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Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
Tuesday, November 24, 2015
Her first question after we introduced ourselves was, "How important is it for you to have a diagnosis? How much do you need to have one for him?"
It caused me to stop and consider. What is the right answer she's looking for? What do I really feel? How do I even express it? I answer truthfully. "If searching for answers isn't going to get us anywhere then we don't want to do it. We don't want to waste your time, or our time, and we don't want to put Rhys through more trauma. We just want to know if he has something so that we can help him out in school or when he's older."
The doctor nodded encouragement. She seemed to understand what I was trying to say.
Our goal is to see how we can support Rhys and bridge that delayment gap. But if Specialists don't think there is any reason to continue searching then I guess we'd have to be happy with all that we know now. The Developmental Pediatrician we saw at the Fraser Developmental Clinic said that we had done a good job with getting answers for Rhys and that we had exhausted a lot of routes, and that we shouldn't feel that we needed to look further. I think that she meant to be encouraging but we didn't cancel our appointment with the Specialist at TIDE BC.
TIDE BC is the research team based out of BC Children's Hospital that our regular pediatrician referred us to. (mentioned HERE) I was excited to see them; it sounded promising. They focus on treating and preventing Intellectual Disabilities (ID) through diet and/or drugs. They work alongside the Genetics department at BCCH as well. I couldn't help but feel somewhat hopeful that they'd be able to help us out. Even though I knew that the chances of them even finding anything wasn't high. But hope is an amazing thing.
We hadn't heard from Genetics yet, at the time of this appointment, but I admitted that it must mean that there was nothing to mention. We aren't upset about that. There's no need to bring us in on nothing, plus it saves us an hour drive in to BCCH, paying for parking, finding childcare, and the drive back home. We can appreciate that. The Specialist at TIDE BC had most of our test results in her file and she confirmed that they were were 'negative' or 'normal'. (no surprise)
Our appointment was short. I was advised by a friend who'd been to TIDE already, as well as the printed handout the clinical nurse gave me, that we'd have questions to answer (mostly background info---stuff we answer at every doctor's appointment, which is frustrating.), they'd do a check on Rhys and we'd be send for a bunch of lab work. (yay) However, it didn't end up that way. Instead, the doctor recognized that we had done so many genetic tests already and that there wasn't much else for them to do. Instead, after a brief look over Rhys, she asked if she could refer us to another group. They are called CAUSES, another clinic based out of BCCH.
This group is still in it's testing phase, but showing lost of promise and answers. They work with Genetics as well, but the biggest and best part of them is that instead of doing multiple tests (which we already have done a boatload), they do only one. Yep. One giant DNA test. Bam! That's it! So no more going back and doing "one more test" and no doctor saying, 'maybe we can look for this..." How awesome is that? It's a huge test and answers our feelings towards wasting anyone's time and/or putting Rhys through more poking and trauma (he already is a huge handful to get labwork done as it is)
I found this about CAUSES on the Genome British Columbia site:
About the CAUSES Clinic
The CAUSES Clinic will provide advanced DNA testing, clinical interpretation, genetic counselling, and personalized recommendations for treatment for children with complex, undiagnosed medical
conditions. There are more than 7,000 known genetic disorders, and the CAUSES Clinic will test for all of these using one genomic test. If advanced DNA testing identifies a child with a treatable condition, then treatment can be started earlier. For some children, this will be life-changing. Obtaining the right treatment earlier will help prevent medical complications and save lives. The CAUSES Clinic is made possible by a $3-million commitment from Mining for Miracles through BC Children’s Hospital Foundation and is supported by the Provincial Health Services Authority and the University of British Columbia. The CAUSES Clinic will ensure that BC Children’s Hospital remains a centre of excellence providing outstanding care to the children and families of British Columbia.
The CAUSES Clinic will:
The doctor told us that this testing has a 30% rate of discovery. Which is encouraging to hear. That's a lot of families who have gotten answers. But that does mean that 70% of patients don't have anything in the end. She needed us to understand that the results may not yield anything. But I said that even a "normal" is an answer. Isn't it? Having no genetic problems is actually an important piece of our search to know. It'll be definitive, at least.
CAUSES has a fast response time too. Apparently they take only about 2-3 weeks to decide (as a group with all the Specialists) if you are a good candidate for their program. So maybe we'll hear soon if this is something we'll be searching further. If the decide to look into Rhys' case, apparently they'll contact our Specialist at TIDE, who will then contact the Genetics Counsellor, who will then contact us to set up an appointment date. It's all so run-around-ish, but I was told it also happens sooner than typical.
The funny thing is that a few days after our appointment at TIDE BC, we got a call from the Genetics department. The doctor didn't find anything in his tests, but he'd like to recommend us to a different group for further testing! When I talked to the Doctor's Assistant (I'm not actually too sure who she was, to be honest), I told her about TIDE and CAUSES and she said that was the group that our doctor wanted to send us to! How interesting! I asked what the criteria was for this---what about Rhys was it that made him want to go further? She said that the doctor feels that even though the tests are coming back normal or fine that there may be something else going on with him. So it wasn't necessarily that Rhys was a "special case", but that he's worth looking further into. That was actually good for me to hear. (It's not all in my head!) There's something there, but what? We're short of answers, but maybe there are still options.
It caused me to stop and consider. What is the right answer she's looking for? What do I really feel? How do I even express it? I answer truthfully. "If searching for answers isn't going to get us anywhere then we don't want to do it. We don't want to waste your time, or our time, and we don't want to put Rhys through more trauma. We just want to know if he has something so that we can help him out in school or when he's older."
The doctor nodded encouragement. She seemed to understand what I was trying to say.
Our goal is to see how we can support Rhys and bridge that delayment gap. But if Specialists don't think there is any reason to continue searching then I guess we'd have to be happy with all that we know now. The Developmental Pediatrician we saw at the Fraser Developmental Clinic said that we had done a good job with getting answers for Rhys and that we had exhausted a lot of routes, and that we shouldn't feel that we needed to look further. I think that she meant to be encouraging but we didn't cancel our appointment with the Specialist at TIDE BC.
TIDE BC is the research team based out of BC Children's Hospital that our regular pediatrician referred us to. (mentioned HERE) I was excited to see them; it sounded promising. They focus on treating and preventing Intellectual Disabilities (ID) through diet and/or drugs. They work alongside the Genetics department at BCCH as well. I couldn't help but feel somewhat hopeful that they'd be able to help us out. Even though I knew that the chances of them even finding anything wasn't high. But hope is an amazing thing.
We hadn't heard from Genetics yet, at the time of this appointment, but I admitted that it must mean that there was nothing to mention. We aren't upset about that. There's no need to bring us in on nothing, plus it saves us an hour drive in to BCCH, paying for parking, finding childcare, and the drive back home. We can appreciate that. The Specialist at TIDE BC had most of our test results in her file and she confirmed that they were were 'negative' or 'normal'. (no surprise)
Our appointment was short. I was advised by a friend who'd been to TIDE already, as well as the printed handout the clinical nurse gave me, that we'd have questions to answer (mostly background info---stuff we answer at every doctor's appointment, which is frustrating.), they'd do a check on Rhys and we'd be send for a bunch of lab work. (yay) However, it didn't end up that way. Instead, the doctor recognized that we had done so many genetic tests already and that there wasn't much else for them to do. Instead, after a brief look over Rhys, she asked if she could refer us to another group. They are called CAUSES, another clinic based out of BCCH.
This group is still in it's testing phase, but showing lost of promise and answers. They work with Genetics as well, but the biggest and best part of them is that instead of doing multiple tests (which we already have done a boatload), they do only one. Yep. One giant DNA test. Bam! That's it! So no more going back and doing "one more test" and no doctor saying, 'maybe we can look for this..." How awesome is that? It's a huge test and answers our feelings towards wasting anyone's time and/or putting Rhys through more poking and trauma (he already is a huge handful to get labwork done as it is)
I found this about CAUSES on the Genome British Columbia site:
About the CAUSES Clinic
The CAUSES Clinic will provide advanced DNA testing, clinical interpretation, genetic counselling, and personalized recommendations for treatment for children with complex, undiagnosed medical
conditions. There are more than 7,000 known genetic disorders, and the CAUSES Clinic will test for all of these using one genomic test. If advanced DNA testing identifies a child with a treatable condition, then treatment can be started earlier. For some children, this will be life-changing. Obtaining the right treatment earlier will help prevent medical complications and save lives. The CAUSES Clinic is made possible by a $3-million commitment from Mining for Miracles through BC Children’s Hospital Foundation and is supported by the Provincial Health Services Authority and the University of British Columbia. The CAUSES Clinic will ensure that BC Children’s Hospital remains a centre of excellence providing outstanding care to the children and families of British Columbia.
The CAUSES Clinic will:
- Test at least 500 children and family members within the next three years to identify illnesses that would previously have gone undiagnosed;
- Provide genetic counselling, interpretation of complex testing results, and personalized treatment recommendations for children who receive a diagnosis from the Clinic’s advanced DNA testing;
- Help reduce the number of invasive tests – such as biopsies, biochemical tests, expensive single gene tests, or MRI scans often requiring sedation– needed to obtain a diagnosis for children. This is expected to reduce the average number of tests per child required for a diagnosis from 10 or more to one, resulting in significant savings for both families and the health-care system;
- Help prevent medical complications. In cases where advanced DNA testing identifies a treatable condition in a child, then treatment can be started immediately. Obtaining the right treatment earlier will help prevent medical complications and save lives;
- Partner with BC Children’s Hospital BioBank to store biological samples donated by patients, which will contribute to significant research discoveries.
The doctor told us that this testing has a 30% rate of discovery. Which is encouraging to hear. That's a lot of families who have gotten answers. But that does mean that 70% of patients don't have anything in the end. She needed us to understand that the results may not yield anything. But I said that even a "normal" is an answer. Isn't it? Having no genetic problems is actually an important piece of our search to know. It'll be definitive, at least.
CAUSES has a fast response time too. Apparently they take only about 2-3 weeks to decide (as a group with all the Specialists) if you are a good candidate for their program. So maybe we'll hear soon if this is something we'll be searching further. If the decide to look into Rhys' case, apparently they'll contact our Specialist at TIDE, who will then contact the Genetics Counsellor, who will then contact us to set up an appointment date. It's all so run-around-ish, but I was told it also happens sooner than typical.
The funny thing is that a few days after our appointment at TIDE BC, we got a call from the Genetics department. The doctor didn't find anything in his tests, but he'd like to recommend us to a different group for further testing! When I talked to the Doctor's Assistant (I'm not actually too sure who she was, to be honest), I told her about TIDE and CAUSES and she said that was the group that our doctor wanted to send us to! How interesting! I asked what the criteria was for this---what about Rhys was it that made him want to go further? She said that the doctor feels that even though the tests are coming back normal or fine that there may be something else going on with him. So it wasn't necessarily that Rhys was a "special case", but that he's worth looking further into. That was actually good for me to hear. (It's not all in my head!) There's something there, but what? We're short of answers, but maybe there are still options.
Friday, August 7, 2015
** Oops, a day late. We had a busy Thursday!
Welcome back to Thankful Thursday, a feature started by Louise at Talk Nerdy to Me, where we look back over our week and remember our blessings. It is so good to see all that has happened, especially if you have had a particularly tough week. Being grateful is good for the soul. Here are just a few things that I am thankful for...
1. Long Weekends
It was BC Day on Monday, which meant a long weekend. What's not to like? My Hunny took Friday off as well, giving us four days with him, which is always great!
2. BBQs
We spent our long weekend hosting a BBQ with some friends on Saturday; the kids splashed and played in the pool, and the adults sat around talking. It was nice getting to know a few of our friends better and for the kids to get together with friends again!
On Sunday, a friend of my Hunny's invited us over to their house for a BBQ. They have a large property out in Chilliwack where they breed rabbits and raise many other animals (chickens, ducks, pheasants) It was such a great evening getting to know them and see their "petting zoo"! The boys had a lot of fun playing with their kids too!
3. New brakes
The brakes on the van suddenly started squealing over the weekend, which meant having to pull it off the road so that Hunny could fix them. I am so thankful that not only does he know how to do this, but that he had time to, and that he also was teaching Bryn necessary skills as well!
Yay for new brakes and for safe driving and a Hunny that is incredibly helpful!
4. Adventure Park
The kids and I were at BCCH for a quick appointment, so I thought that maybe we could make a fun afternoon of it and go somewhere different and fun. Upon the advice of my sister in law, we ended up at the Terra Nova Adventure Park in Richmond. I'd seen pictures of this place before and was impressed. The kids were so excited! It's a nice park full of fun structures to climb on, plus two huge slides and a zip line! I'll blog about it soon!
5. Holter Monitors
Kai had to have a 24 hour Holter Monitor put on (which is why we were at BC Children's Hospital) since it had been several years since his last one. (he's only done it once, when he was about 2 years old. I'm pretty sure we stayed overnight at BCCH then as they started him on medication as well, and wanted to monitor him for possible reactions.) Everything was going great, until it stopped working at 5:30pm, for no apparent reason, just after the clinic closed. We had to travel back to the hospital the next morning, where they fitted a new one on him. I am so thankful that it wasn't too busy and they were able to fit us in immediately and get it done quickly, and without being upset or impatient with us! I'm also thankful that the kids were in good spirits and polite and the short-visit-but-long-trip wasn't too bad!
We returned the Holter Monitor this afternoon. Phew! Three days of driving back and forth to Vancouver is tiring! I am thankful for safety in driving and no traffic problems. I am also thankful that Kai didn't have any heart issues or symptoms to note of. We have his follow up appointment in two weeks, along with his annual ECHO and Ekg.
6. Skills
I am so proud of Rhys for being able to climb up the three stories on the rope ladder to get to the top of the slide. He's not afraid of heights apparently, which is great since a few of us are in this family! He's also getting better at climbing; I'm so pleased! He's always been delayed with his gross motor skills, so learning to climb and on ropes is something that has taken some time to learn! How wonderful to see him go up several times, even at his own speed!
7. lab work finally done!
Rhys had some blood tests done in February that the Genetics dept requested (remember when we let the kids skip school?) but they called us in June to say that one of the tests was done wrong! You've got to be kidding! They mailed us more requisition forms (with better instructions) and so when we were at BCCH this week, I got the proper blood work done. I am so thankful that we could do it there, since he freaks out and screams and cries. They are so good at dealing with kids! (go figure! I am also thankful that it is finally finished. Hopefully it won't take too long to hear results and get us back in for an appointment.
8. Painting Talent
Aunty Jenn (my SIL) took an evening painting class and has been slowly teaching the cuzzies how to paint as well! First she had Abi over and then Rhys later in the week, and will get to the others at a later date (if they are interested) With the work they are coming home with, I'd say that she is a good teacher! And my kids are talented!
9. visits to my parents
The kids and I took a trip to Chilliwack to visit my parents since it felt like it had been a while! I love that, even though they aren't living near us (it's an hour drive on the freeway) they are still very much a part of our lives!
10. true forgiveness
"God bases his forgiveness on himself and his forgiving character, not on the quality of your confession" Edward Welch (Heart of the Matter)
So thankful for this wisdom and truth.
So that's my week in a nutshell. How about you? What are you thankful for?
Saturday, June 27, 2015
I got the phone call I was hoping for yesterday!
I have been trying for almost two years now to have Rhys assessed at Sunny Hill, which is a program for children with developmental delays and/or on the autism spectrum. He just turned 7, but still is at a 4 yr old level in a lot of things and we have been trying to find some answers for a while now. Well, they finally called!
I talked to a woman who was working on our file and she was really nice and helpful. She asked me a bunch of questions on my concerns, plus the typical "how does he do with this...?" type of ones. She is going to set us up with a developmental pediatrician, a physiotherapist, a psychologist (or psychiatrist, I can't recall), a speech therapist and a social worker! (The social worker is what is the scary word. It's the fears of what the name means, right? In the news, it is a Social worker that takes kids away from families! But I was told that she was there to advocate for him and to show us how to...more like a case worker!)
Yay! I'm not too sure when these appointments will be made, but I'm hoping soon! Having specialists assess him could mean an eventual diagnosis, or at least something to help him from falling farther behind. He needs help in school, but not 100% of the time, so it's difficult!
I have been trying for almost two years now to have Rhys assessed at Sunny Hill, which is a program for children with developmental delays and/or on the autism spectrum. He just turned 7, but still is at a 4 yr old level in a lot of things and we have been trying to find some answers for a while now. Well, they finally called!
I talked to a woman who was working on our file and she was really nice and helpful. She asked me a bunch of questions on my concerns, plus the typical "how does he do with this...?" type of ones. She is going to set us up with a developmental pediatrician, a physiotherapist, a psychologist (or psychiatrist, I can't recall), a speech therapist and a social worker! (The social worker is what is the scary word. It's the fears of what the name means, right? In the news, it is a Social worker that takes kids away from families! But I was told that she was there to advocate for him and to show us how to...more like a case worker!)
Yay! I'm not too sure when these appointments will be made, but I'm hoping soon! Having specialists assess him could mean an eventual diagnosis, or at least something to help him from falling farther behind. He needs help in school, but not 100% of the time, so it's difficult!
The other news is that we got a letter in the mail letting us know of
an appointment for assessment at the Biochemical Diseases Clinic at BCCH. That was out of nowhere! I hadn't heard of this place, until it was pointed out to me that it was TIDE BC, the clinic we were hoping to get him into!! They work alongside the genetics department in efforts to "prevent and treat intellectual
disability", using diet or medication. (I prefer the term "delayment" as
it doesn't sound so scary to me as ID!) I'm excited about this
appointment, even though it's not til October.
It's the start of something good. The start of some important steps! It's hard not to feel hopeful, so for now I am going to be thankful and celebrate!
It's the start of something good. The start of some important steps! It's hard not to feel hopeful, so for now I am going to be thankful and celebrate!
Sunday, May 3, 2015
We fired our paediatrician this year. Her ruining our referral for an assessment at Sunnyhill did it for us. When we approached our initial appointment with the new paediatrician last month, I tried to gather up all the necessary information so he could be caught up on Rhys. I didn't want to have to go through tons of paperwork or do unnecessary testing that would put us back by several months. I already feel we are behind! So I got my Rhys Binder together and went through my last notes to see what would be the most important to mention. I never know if I will have to spend the time trying to convince the doctor of our need for further assessment or if our words will be enough.
Prior to the appointment, I asked Rhys' teacher and the SEA in the classroom if they could put together a letter for us to give to the pediatrician. It was handed to me on the last day of classes before Spring Break and put together with help from the Special Education Coordinator. It was an interesting letter. Most of it I already knew about, but some threw me off, and some parts made me actually laugh out loud.
It mentioned how he "presents physically, socially, and academically as being younger than his kindergarten peers", specifically pointing out that he can do and say things that "are innapropriate or that his peers find odd." (he does not understand personal space, and likes to dance and hit his bottom---that makes me laugh, but it's uncomfortable to people.) His speech is still very unclear and he is learning at a slower pace than his classmates.
There was a noted incident where the class did a skipping activity and he couldn't do it and he fell. The ability to skip is a skill that he has only gained last year in preschool, so he has not mastered it yet; he is still working on his balance. It was pointed out that his reaction time to break his fall is slow, so when he stumbles, the fall can be quite hard. I hadn't thought of that before, but it makes sense. It explains all of the times he's cried and cried over a "simple" fall--it may not have been so simple for him.
What made me laugh was when his preschool teacher described him as "oddly optimistic". What does that mean? I guess he can be a bit more enthusiastic than necessary.
What frustrated me was the I have two pages of how Rhys is different than his peers and is struggling, yet no teacher or SEA has talked to me directly about it. I have tried to open up a dialog with them though, but things haven't gone far. Yet I read: "the challenges in these areas are directly effecting his progress academically and his ability to interact socially with peers in a meaningful way." So why are they not meeting with me about it? Why have they not brought up ideas or suggestions? Why have they not done their own assessment?
Just before Christmas break, his teacher mentioned about him "falling through the cracks." How true that is. He is behind in many areas, but he doesn't need an aide in the classroom all of the time, yet he does need more one-on-one attention. I can see how he misses out when they don't know where he fits.
When we met with the new pediatrician, he used those same words. That it seemed that Rhys was "falling through the cracks." He is gaining skills, but behind in many, but not so far behind that he obviously needs help. It's hard for me. I hate to think that instead of Rhys getting the help he needs, he may be seen as disruptive or a troublemaker by the teachers when he gets older.
Our new pediatrician is going to talk to Sunnyhill and see about us getting an assesment done, but he wasn't too sure if there was a cut-off age. I didn't see one online, so I hope there isn't. It would seem so unfair if they didn't accept his case, since we were on that wait list at age five and still in preschool, and it was the old pediatrician's fault we weren't anymore. It also would seem strange to have an age limit since some of these delayments come out more in the first years of school. Hopefully we will hear something soon.
He also mentioned a group called TIDE BC. They are out of BCCH and work along with Genetics. The goal is to see if therapy would help offset some delayments in children, decrease that gap, and maybe increase some skills. A lot of it went over my head during our appointment, but when I looked them up online, I felt some hope and excitement. Wouldn't it be wonderful if this team of researchers and specialists were able to find some sort of treatment that would help Rhys? We haven't heard from Genetics yet though, regarding any test results, so I don't know if they even found anything or were even able to get anything from the bloodtests. (I can only assume that silence means that there is nothing to discuss.) The doctor wasn't even sure if we would be a good candidate for TIDE BC, but hopefully someone will find our case interesting enough to work on!
It's hard when you have teachers and doctors telling you that your child is falling through the cracks and getting further behind but they can't seem to do anything about it. It's frustrating and disheartening. But I am trying to be hopeful that we will get somewhere with this new pediatrician. I know that there are options out there, at least.
Prior to the appointment, I asked Rhys' teacher and the SEA in the classroom if they could put together a letter for us to give to the pediatrician. It was handed to me on the last day of classes before Spring Break and put together with help from the Special Education Coordinator. It was an interesting letter. Most of it I already knew about, but some threw me off, and some parts made me actually laugh out loud.
It mentioned how he "presents physically, socially, and academically as being younger than his kindergarten peers", specifically pointing out that he can do and say things that "are innapropriate or that his peers find odd." (he does not understand personal space, and likes to dance and hit his bottom---that makes me laugh, but it's uncomfortable to people.) His speech is still very unclear and he is learning at a slower pace than his classmates.
There was a noted incident where the class did a skipping activity and he couldn't do it and he fell. The ability to skip is a skill that he has only gained last year in preschool, so he has not mastered it yet; he is still working on his balance. It was pointed out that his reaction time to break his fall is slow, so when he stumbles, the fall can be quite hard. I hadn't thought of that before, but it makes sense. It explains all of the times he's cried and cried over a "simple" fall--it may not have been so simple for him.
What made me laugh was when his preschool teacher described him as "oddly optimistic". What does that mean? I guess he can be a bit more enthusiastic than necessary.
What frustrated me was the I have two pages of how Rhys is different than his peers and is struggling, yet no teacher or SEA has talked to me directly about it. I have tried to open up a dialog with them though, but things haven't gone far. Yet I read: "the challenges in these areas are directly effecting his progress academically and his ability to interact socially with peers in a meaningful way." So why are they not meeting with me about it? Why have they not brought up ideas or suggestions? Why have they not done their own assessment?
Just before Christmas break, his teacher mentioned about him "falling through the cracks." How true that is. He is behind in many areas, but he doesn't need an aide in the classroom all of the time, yet he does need more one-on-one attention. I can see how he misses out when they don't know where he fits.
When we met with the new pediatrician, he used those same words. That it seemed that Rhys was "falling through the cracks." He is gaining skills, but behind in many, but not so far behind that he obviously needs help. It's hard for me. I hate to think that instead of Rhys getting the help he needs, he may be seen as disruptive or a troublemaker by the teachers when he gets older.
Our new pediatrician is going to talk to Sunnyhill and see about us getting an assesment done, but he wasn't too sure if there was a cut-off age. I didn't see one online, so I hope there isn't. It would seem so unfair if they didn't accept his case, since we were on that wait list at age five and still in preschool, and it was the old pediatrician's fault we weren't anymore. It also would seem strange to have an age limit since some of these delayments come out more in the first years of school. Hopefully we will hear something soon.
He also mentioned a group called TIDE BC. They are out of BCCH and work along with Genetics. The goal is to see if therapy would help offset some delayments in children, decrease that gap, and maybe increase some skills. A lot of it went over my head during our appointment, but when I looked them up online, I felt some hope and excitement. Wouldn't it be wonderful if this team of researchers and specialists were able to find some sort of treatment that would help Rhys? We haven't heard from Genetics yet though, regarding any test results, so I don't know if they even found anything or were even able to get anything from the bloodtests. (I can only assume that silence means that there is nothing to discuss.) The doctor wasn't even sure if we would be a good candidate for TIDE BC, but hopefully someone will find our case interesting enough to work on!
It's hard when you have teachers and doctors telling you that your child is falling through the cracks and getting further behind but they can't seem to do anything about it. It's frustrating and disheartening. But I am trying to be hopeful that we will get somewhere with this new pediatrician. I know that there are options out there, at least.
Tuesday, February 24, 2015
I am fast beginning to realize that this is the year of appointments.
This week we have a Breathing Test for Abi. That should be interesting. I'm curious as to what will show up and what the specialist will suggest or say about her lung function.
We have her ENT appt booked for May. Yay! She has struggled a lot this winter with her tonsils and asthma and so I am happy to have this addressed. Especially when every doctor we saw (her own, plus two at the medical clinic) mentioned how Huge her tonsils were, so much so that our own doctor said that they were "almost kissing"! That can't be right!
We are finally seeing a new pediatrician for Rhys! I am so excited about that! We have actually seen this doctor before, when Bryn was a baby and struggling with reflux. This doctor also, incidentally, was the one on call when I brought Rhys into the ER at one month old and very very sick, and he's the one who did all sorts of tests on him (including spinal tap) to determine why he was having apnea spells. That was a scary visit! But this upcoming visit next month will be better! I'm looking forward to seeing a new doctor and hopefully getting something sorted out for Rhys. I hate having this Mommy Gut tell me something isn't "right" with my boy, but also having him "well enough" that I need to explain and justify myself.
For Kai, we got confirmation for his annual cardiology appointments in August, which is nice. I hate having to call BCCH to get our appointments booked. It is such a hassel and the receptionist never calls you back! The doctor also has his 24-Hr Holter Monitor booked, as well as an exercise test, which shall be interesting.
Of course, we also have our usual dental visits (I'm not looking forward to an upcoming one) and an annual eye appointment next month as well. But those are normal. Hopefully our "un normal" ones will give us good answers though. And for that I have hope and slight anticipation!
This week we have a Breathing Test for Abi. That should be interesting. I'm curious as to what will show up and what the specialist will suggest or say about her lung function.
We have her ENT appt booked for May. Yay! She has struggled a lot this winter with her tonsils and asthma and so I am happy to have this addressed. Especially when every doctor we saw (her own, plus two at the medical clinic) mentioned how Huge her tonsils were, so much so that our own doctor said that they were "almost kissing"! That can't be right!
We are finally seeing a new pediatrician for Rhys! I am so excited about that! We have actually seen this doctor before, when Bryn was a baby and struggling with reflux. This doctor also, incidentally, was the one on call when I brought Rhys into the ER at one month old and very very sick, and he's the one who did all sorts of tests on him (including spinal tap) to determine why he was having apnea spells. That was a scary visit! But this upcoming visit next month will be better! I'm looking forward to seeing a new doctor and hopefully getting something sorted out for Rhys. I hate having this Mommy Gut tell me something isn't "right" with my boy, but also having him "well enough" that I need to explain and justify myself.
For Kai, we got confirmation for his annual cardiology appointments in August, which is nice. I hate having to call BCCH to get our appointments booked. It is such a hassel and the receptionist never calls you back! The doctor also has his 24-Hr Holter Monitor booked, as well as an exercise test, which shall be interesting.
Of course, we also have our usual dental visits (I'm not looking forward to an upcoming one) and an annual eye appointment next month as well. But those are normal. Hopefully our "un normal" ones will give us good answers though. And for that I have hope and slight anticipation!
Thursday, January 22, 2015
I let my kids skip school earlier this week! It was actually their Father's idea! I know, how unusual for him, but he thought it would be something fun to do. Our annual membership to the Vancouver Aquarium was coming to an end and so why not take one last trip downtown? He took the day off of work and we planned to surprise the kids in the morning.
Our first plan of action was to not set our alarms, but to sleep in. Of course, this is my husband, who doesn't know how to sleep in, but that just meant that we could plan it more accurately. He got out of the shower and woke me up and then rushed into the room, yelling at the kids that we were late, we slept in, let's get moving, we have no time for breakfast, let's go! I was surprised at how calmly the kids were, and how much they didn't grumble!
Our ruse was to say that we had to head into Surrey to drop off Hunny at the skytrain station. That was just so they didn't question why we were going the opposite direction of their school. But then, we stopped at the SMH Outpatient building so that we could FINALLY get Rhys' bloodwork done. (Remember our Genetics apt and the tests that he wanted to do way back in the summer? It has taken us this long to do it. First, the phlebotomist' couldn't figure out what one test was and was waiting to hear back from the doctor. Then we had to fast for one of them. Then Rhys didn't do well and had his vein collapse during one test. And then we just plain forgot over time. *blush* But we have finally done it. And hopefully it is all good and we will get answers next month!) I went in with him while Hunny took the kids for a quick breakfast, grabbing us something as well (Rhys had to fast for one of them, so we just made everyone wait on breakfast to make it easier!) It was after we got picked up from the Centre that we told the kids the news! They actually responded not as excitedly as we were hoping! Instead, they talked about how they already guessed something was up! haha. We have astute children! Having their Father and I so calm about being "late" probably threw them off. They also guessed since I "forgot" to make them all lunches for school and suddenly Hunny had some course to go to for the day that they hadn't heard of!
It was a fun morning trying to be sneaky!
The Rainforest section. I like this part. It's so humid inside though, but I like being warm, and I like how you see other animals other than just aquatic ones. There are Marmosets, tree frogs, ducks, sloths, parrots and these macaws to name a few. I obviously have toddlers because I was thinking of all the Baby Marmosets and Blue Macaws that Dora and Diego have rescued or helped out or seen in their Nick Jr. shows!
Jellies! They fascinate me! I love the jellyfish section. I didn't realize there were so many different varieties!
Rhys found a different type of "fish" in this tank! By coming early in the morning, and on a school day, we got to watch some tanks be cleaned. We also weren't trying to keep track of kids or find spots to see through crowds. It was nice!
I love the Tropical section where you can see some sharks and the sea turtle! Thanks to the movie Little Nemo, now every time I see the sea turtle, I have to say "Duuuude!" (the kids don't get it!) This tank is huge and very busy!
Little Nemos!!! The Clownfish were Eden's favourite.
We had a great day at the Aquarium. Since it wasn't busy (two or three classes arrived by lunchtime, or at least we were all in the same place at that time) we got to watch the Beluga show and the Dolphin show. We had never been able to see those before due to crowds, so it was so neat! I had no idea that dolphins could swim so fast! I love seeing all of the tricks that the dolphins and belugas had learned to do. I'm not a big "fish" person, but it must be amazing to work with these animals!
It was worth it to skip school!
Our first plan of action was to not set our alarms, but to sleep in. Of course, this is my husband, who doesn't know how to sleep in, but that just meant that we could plan it more accurately. He got out of the shower and woke me up and then rushed into the room, yelling at the kids that we were late, we slept in, let's get moving, we have no time for breakfast, let's go! I was surprised at how calmly the kids were, and how much they didn't grumble!
Our ruse was to say that we had to head into Surrey to drop off Hunny at the skytrain station. That was just so they didn't question why we were going the opposite direction of their school. But then, we stopped at the SMH Outpatient building so that we could FINALLY get Rhys' bloodwork done. (Remember our Genetics apt and the tests that he wanted to do way back in the summer? It has taken us this long to do it. First, the phlebotomist' couldn't figure out what one test was and was waiting to hear back from the doctor. Then we had to fast for one of them. Then Rhys didn't do well and had his vein collapse during one test. And then we just plain forgot over time. *blush* But we have finally done it. And hopefully it is all good and we will get answers next month!) I went in with him while Hunny took the kids for a quick breakfast, grabbing us something as well (Rhys had to fast for one of them, so we just made everyone wait on breakfast to make it easier!) It was after we got picked up from the Centre that we told the kids the news! They actually responded not as excitedly as we were hoping! Instead, they talked about how they already guessed something was up! haha. We have astute children! Having their Father and I so calm about being "late" probably threw them off. They also guessed since I "forgot" to make them all lunches for school and suddenly Hunny had some course to go to for the day that they hadn't heard of!
It was a fun morning trying to be sneaky!
The Rainforest section. I like this part. It's so humid inside though, but I like being warm, and I like how you see other animals other than just aquatic ones. There are Marmosets, tree frogs, ducks, sloths, parrots and these macaws to name a few. I obviously have toddlers because I was thinking of all the Baby Marmosets and Blue Macaws that Dora and Diego have rescued or helped out or seen in their Nick Jr. shows!
Jellies! They fascinate me! I love the jellyfish section. I didn't realize there were so many different varieties!
Rhys found a different type of "fish" in this tank! By coming early in the morning, and on a school day, we got to watch some tanks be cleaned. We also weren't trying to keep track of kids or find spots to see through crowds. It was nice!
I love the Tropical section where you can see some sharks and the sea turtle! Thanks to the movie Little Nemo, now every time I see the sea turtle, I have to say "Duuuude!" (the kids don't get it!) This tank is huge and very busy!
Little Nemos!!! The Clownfish were Eden's favourite.
We had a great day at the Aquarium. Since it wasn't busy (two or three classes arrived by lunchtime, or at least we were all in the same place at that time) we got to watch the Beluga show and the Dolphin show. We had never been able to see those before due to crowds, so it was so neat! I had no idea that dolphins could swim so fast! I love seeing all of the tricks that the dolphins and belugas had learned to do. I'm not a big "fish" person, but it must be amazing to work with these animals!
It was worth it to skip school!
Monday, October 6, 2014
We finally received the report from the Centre for Child Development's Communication Therapy that Rhys had earlier this year. We only saw Rina for a few months, just enough time to get the testing done and work on a few things. It almost seemed useless to me, since we didn't get to work on anything long enough, but having this report done is a good start, and I was able to pass along a copy to the school.
The report shouldn't have been a surprise, but it still hits me hard when I see it in print at how my child is behind, or not deemed "typical" or "normal".
The summery states that his receptive language (understanding) is "low average", and he has "mild delay" for expressive language, and "moderately delayed" for speech sounds. However, his non-verbal communication is age appropriate, and has appropriate eye contact, and plays well with a good imagination. His CT noted that he is a visual learner and benefits with a lot of warnings leading up to transitions, since he struggles with changes. (such as a game ending or having to leave somewhere.)
The break-down of his scores was sad to see. The average Standard Score is between 85-115 and he was evaluated with 3 out of 4 under that. The Scaled Score average is 7-13 and he scored 3 out of 7, with 1 being borderline, below that. The average Percentile is 16th-85th and his results show that 6 out of 11 fall below. This was for the Clinical Evaluation of Language Fundamentals, such as sentence structure, expressive vocabulary, concepts and following directions, word classes-receptive and expressive, core language and language content.
The good news is this: he is very social and has a great imagination and does love to talk. And I remind myself that he is doing so well in school! He is loving kindergarten! When I see all of the steps he has taken, and how much he has grown in just a year, I can't help but feel excited and relieved. So far his delays haven't kept him from anything in school, and that makes me happy.
*****
We also received an assessment from the Genetics Dept from our appointment in August. It was a detailed report explaining the physical examination (he is in the 15th percentile for height and head circumference, and 3rd to 15th for weight), and it sounds that everything is normal and healthy, thankfully. It also listed his prior investigations as being normal or unremarkable (head CT scan, chromosome analysis, urine). The big news we were waiting for was written at the end as the doctor's impressions: "Rhys is a young man with developmental problems and dysmorphic features that are not pathognomonic of a genetic syndrome known to me." Which is what we were expecting. That there wasn't anything obvious. We are still waiting for the results of his blood tests.
****
I have talked to my doctor a few times regarding our referral to Sunny Hill, which wasn't completed and therefore our file was closed before it could even be opened. It was the doctor who sent in the referral, but it was the pediatrician that was supposed to give me forms to fill out (she didn't). Apparently, the referral department at Sunny Hill tried to contact the pediatrician several times to get the information needed, but she never returned their calls. *sigh* I am so frustrated with her! My doctor is going to see if sending her a letter on our behalf will help get the pediatrician working for us, but I don't know. I would love to avoid seeing her altogether, but maybe I have to just be strong and go in and get that referral done!
So that is what we are at. Now you know too.
The report shouldn't have been a surprise, but it still hits me hard when I see it in print at how my child is behind, or not deemed "typical" or "normal".
The summery states that his receptive language (understanding) is "low average", and he has "mild delay" for expressive language, and "moderately delayed" for speech sounds. However, his non-verbal communication is age appropriate, and has appropriate eye contact, and plays well with a good imagination. His CT noted that he is a visual learner and benefits with a lot of warnings leading up to transitions, since he struggles with changes. (such as a game ending or having to leave somewhere.)
The break-down of his scores was sad to see. The average Standard Score is between 85-115 and he was evaluated with 3 out of 4 under that. The Scaled Score average is 7-13 and he scored 3 out of 7, with 1 being borderline, below that. The average Percentile is 16th-85th and his results show that 6 out of 11 fall below. This was for the Clinical Evaluation of Language Fundamentals, such as sentence structure, expressive vocabulary, concepts and following directions, word classes-receptive and expressive, core language and language content.
The good news is this: he is very social and has a great imagination and does love to talk. And I remind myself that he is doing so well in school! He is loving kindergarten! When I see all of the steps he has taken, and how much he has grown in just a year, I can't help but feel excited and relieved. So far his delays haven't kept him from anything in school, and that makes me happy.
*****
We also received an assessment from the Genetics Dept from our appointment in August. It was a detailed report explaining the physical examination (he is in the 15th percentile for height and head circumference, and 3rd to 15th for weight), and it sounds that everything is normal and healthy, thankfully. It also listed his prior investigations as being normal or unremarkable (head CT scan, chromosome analysis, urine). The big news we were waiting for was written at the end as the doctor's impressions: "Rhys is a young man with developmental problems and dysmorphic features that are not pathognomonic of a genetic syndrome known to me." Which is what we were expecting. That there wasn't anything obvious. We are still waiting for the results of his blood tests.
****
I have talked to my doctor a few times regarding our referral to Sunny Hill, which wasn't completed and therefore our file was closed before it could even be opened. It was the doctor who sent in the referral, but it was the pediatrician that was supposed to give me forms to fill out (she didn't). Apparently, the referral department at Sunny Hill tried to contact the pediatrician several times to get the information needed, but she never returned their calls. *sigh* I am so frustrated with her! My doctor is going to see if sending her a letter on our behalf will help get the pediatrician working for us, but I don't know. I would love to avoid seeing her altogether, but maybe I have to just be strong and go in and get that referral done!
So that is what we are at. Now you know too.
Friday, August 22, 2014
We made it to Rhys' Genetics appointment. Yep, our time has finally come! I was so happy that Hunny took an extra day off of work to attend as well, since I was a bundle of nerves. (even though I knew I didn't have to be) And I am grateful for two sisters who stepped in to watch the kids for us so we didn't need to drag them along to the Specialist as well. (that would've upped my stress level. Having the pressure to keep kids still and quiet at appointments is a tough one.) We weren't too sure how long everything would take, but we had to predict that it would be, at the very least, a three hour day. One hour to drive in to BC Children's Hospital, one hour for the appointment and then one hour to drive home. Of course, there was the thought of the appointment not being on time (our cardiology appointments never are at BCCH!) and then time spent at the Lab if we have tests to do, and then would we hit rush hour traffic? Somehow, your whole day is spent just for one simple appointment!
We weren't too sure what to expect, so I brought along my "Rhys Binder". It contains paperwork from his visits with Infant Development Program (now called Sources), as well as his Speech Therapy notes, and all of his ASQs and Gessell Developmental Assessments (I was so relieved when I finally found his last one, done at 39 months old, just before he was dismissed from the IDP...that is, three years and three months, for those who, like me, don't understand when people use months after a year old!) as well as the medical notes from when he was at BCCH and Genetics at a month old, and the photocopy of the questionnaire
form they wanted me to fill out for this new appointment. I am trying hard to be thorough, and organized so I can be a better advocate for him.
Our appointment was rather unexciting! The doctor was good. I liked him. He has a trustworthy demeanor, and was patient, quiet and slow; he didn't rush anything. (although, at first, I was wishing he'd move along and get to the heart of our visit!) He started out with reminding us that genetics and science can only explain so much. He said how a diagnosis would only give us something to fill in the blanks ("he has ___") and to give a label for the schools to deal with. He mentioned that we shouldn't put a "ceiling" on R (or any child, for that matter) and that teaching, training, encouragement and patience would get good results, no matter the diagnosis.
We nodded and agreed, and explained that we just wanted to know if there was a reason for his delayment. The doctor suggested that we get an assessment done at Sunny Hill (which deals with rehabilitation for children with disabilities, delayments and autism)....we were supposed to be on the wait list, but we haven't heard anything in a while.
The doctor sat quietly a lot and I wasn't too sure what to say or offer when there was a silence. Was he waiting for us to talk? Or was he using the time to study Rhys quietly? Or pondering different solutions? The Genetics Counselor talked even less! In fact, I wasn't even aware that's who she was until we were home and I looked at her business card! I found that the difficult part of the appointment. Should we have said more?
He did say that there was a test that he could run, as well as two other tests that hadn't been done before the could be done as well. (Chromosomal Microarray, Sterol Pattern and Plasma Amino Acids...whatever they mean) The results take 8 weeks and they'll call us when they're in. We weren't able to do his lab tests at the hospital though, since they are fasting ones...and Rhys was eating fishy crackers as we waited! Oops. So I'll have to take him to the local lab for the blood test, which I am not looking forward to. They are good there, and gentle, but it will take a few of them to help with it as R kicks and cries. As awesome as they are at BCCH with drawing blood (since they are used to dealing with young patients), I am not taking an hour drive to see them just for a test.
Doctor Boerkoel did say that since R hasn't lost any skills, but is gaining them, (albeit slowly), that he only has mild symptoms, and that is a good thing. He did mention how R has "soft features" and is "elfish". (which is what we've heard from his pediatrician too. ...I think he's just plain cute!) But nothing that is glaringly obvious. I mentioned his areas of weakness (gross motor, speech, and some behavioral immaturity) and the tests for Williams Syndrome and for Fragile X , but he said his features weren't "hard" like they are with those. Both of those have tough and hard physical features....the long face, or full lips, or upturned nose.... I have always thought of Rhys as being "delicate looking", and admit that the one factor in making me second guess WS or FXS was that he didn't have it so obvious in looks. My husband did see the words Noonan Syndrome written in the file, but I had crossed that off my list because of the same thought: R didn't fit those obvious physical features. But who knows? I don't know what the note said. Maybe it was crossed off for them as well?
We weren't too sure what to expect, so I brought along my "Rhys Binder". It contains paperwork from his visits with Infant Development Program (now called Sources), as well as his Speech Therapy notes, and all of his ASQs and Gessell Developmental Assessments (I was so relieved when I finally found his last one, done at 39 months old, just before he was dismissed from the IDP...that is, three years and three months, for those who, like me, don't understand when people use months after a year old!) as well as the medical notes from when he was at BCCH and Genetics at a month old, and the photocopy of the questionnaire
form they wanted me to fill out for this new appointment. I am trying hard to be thorough, and organized so I can be a better advocate for him.
Our appointment was rather unexciting! The doctor was good. I liked him. He has a trustworthy demeanor, and was patient, quiet and slow; he didn't rush anything. (although, at first, I was wishing he'd move along and get to the heart of our visit!) He started out with reminding us that genetics and science can only explain so much. He said how a diagnosis would only give us something to fill in the blanks ("he has ___") and to give a label for the schools to deal with. He mentioned that we shouldn't put a "ceiling" on R (or any child, for that matter) and that teaching, training, encouragement and patience would get good results, no matter the diagnosis.
We nodded and agreed, and explained that we just wanted to know if there was a reason for his delayment. The doctor suggested that we get an assessment done at Sunny Hill (which deals with rehabilitation for children with disabilities, delayments and autism)....we were supposed to be on the wait list, but we haven't heard anything in a while.
The doctor was the Clinical Professor of Genetics, and the woman who was with him taking notes who I thought was his assistant was actually the Genetics Counselor. While Rhys coloured pictures, they studied him,
and then the doctor measured him (his hand length, finger length, distance between
eyes/pupils, length of forehead, size of ears, size of head...) and tested his flexibility (in
arms and hands: how far could he hyper extend them), listened to his heart and
lungs, checked over his legs and reflexes, and chest and placement of his nipples, and his back and spine, even peeked down his pants at his
bottom and front, and checked his feet. I *think* everything sounded okay with
the exam, but maybe there were some comments on his feet??? I'm not too
sure!
The doctor sat quietly a lot and I wasn't too sure what to say or offer when there was a silence. Was he waiting for us to talk? Or was he using the time to study Rhys quietly? Or pondering different solutions? The Genetics Counselor talked even less! In fact, I wasn't even aware that's who she was until we were home and I looked at her business card! I found that the difficult part of the appointment. Should we have said more?
He did say that there was a test that he could run, as well as two other tests that hadn't been done before the could be done as well. (Chromosomal Microarray, Sterol Pattern and Plasma Amino Acids...whatever they mean) The results take 8 weeks and they'll call us when they're in. We weren't able to do his lab tests at the hospital though, since they are fasting ones...and Rhys was eating fishy crackers as we waited! Oops. So I'll have to take him to the local lab for the blood test, which I am not looking forward to. They are good there, and gentle, but it will take a few of them to help with it as R kicks and cries. As awesome as they are at BCCH with drawing blood (since they are used to dealing with young patients), I am not taking an hour drive to see them just for a test.
Doctor Boerkoel did say that since R hasn't lost any skills, but is gaining them, (albeit slowly), that he only has mild symptoms, and that is a good thing. He did mention how R has "soft features" and is "elfish". (which is what we've heard from his pediatrician too. ...I think he's just plain cute!) But nothing that is glaringly obvious. I mentioned his areas of weakness (gross motor, speech, and some behavioral immaturity) and the tests for Williams Syndrome and for Fragile X , but he said his features weren't "hard" like they are with those. Both of those have tough and hard physical features....the long face, or full lips, or upturned nose.... I have always thought of Rhys as being "delicate looking", and admit that the one factor in making me second guess WS or FXS was that he didn't have it so obvious in looks. My husband did see the words Noonan Syndrome written in the file, but I had crossed that off my list because of the same thought: R didn't fit those obvious physical features. But who knows? I don't know what the note said. Maybe it was crossed off for them as well?
So that is it. We didn't go over family history or the questionnaire, and I didn't have any
questions for them and they didn't look at my binder! We left with blood test forms and no clear idea where we were headed with everything. We aren't anywhere ahead of where we were before, but it was nice to have a specialist not see anything "obvious" in Rhys, and it was good to have him tell us that whatever we discover, he only has a "mild case". But it still is difficult to leave without any solid idea of what to do. I really wasn't expecting to have all these answers, but I guess deep down I had hoped we'd have something. But instead we are left with just waiting again.
Next step is to see where we are at with the waiting list for an assessment at Sunny Hill, get those tests done, and just wait.
Next step is to see where we are at with the waiting list for an assessment at Sunny Hill, get those tests done, and just wait.
Tuesday, July 8, 2014
We finally got the call!
BCCH Genetics called to set up an appointment for Rhys! We were on the waiting list for 15 months. I was told that the doctor has been "out of the country a lot", but we have a date set in August.
It should be an interesting appointment; I'm not too sure what to expect. I imagine that they will go over our history, and they will likely ask all of the questions they asked me to fill out in his referral last year April. Then they will probably want to do some tests and I will have to somehow get bloodwork done on him. (oh joys)
At this point, I am not expecting that they will find anything. That is, they won't find something unusual and non-family-history stuff. I am not expecting to find a genetic reason for his delayment. But I feel we should have this done just to put it at rest.
The whole thing is obviously on my mind though, as I had such a strange dream the other night with Rhys and Genetic testing. Rhys was standing at the end of a building, I think it was a cafeteria or something. He was playing and I was keeping my eye on him as he was in his own little world of digging. When I looked over, there was an older man with him and he had squirted something into this circular plastic dish. He commented to me, "He's really small." I nodded. "Yes, he is," I replied good naturedly. It's an odd statement that you're never too sure if there is a correct way to respond. The man repeated himself with more inflection in his tone. He wanted to get his message across. "He's really small." I nodded again with a thin smile. "Yes," I again agreed. That's when I realized this man was doing some sort of genetic test. I watched him seal the halves of the dish and then start to pump a level at the top. It made the liquids inside spin fast like one of those salad spinners. I watched the whole scene wondering how I felt and what I should do. Should I say something? Stop him? I was curious about his test, but I also wanted to wait for the professionals to carry out their own testing. So I kept quiet as I pondered my move.
Then I thought about how this strange man was able to get some DNA sample from my son and I somehow learned that he had Rhys pee into a cup for him! Well, that's when I lost it! I was so incredibly angry that some stranger asked my son to do that; something that we would consider private and innapropriate. I grabbed that dish and I started to yell at this man, "how dare you! you can't do that! you're not even a Geneticist!" By then we were in the cafeteria and he was now working behind the counter as a cook, and he was looking at me blank faced and his co workers stopped and stared and didn't know what to say or do! It was so strange. I remember wondering about the results and if I would be able to decifer them if the test was done, and then I wondered what kind of person was that interested in Genetics that they would want to conduct their own tests!
My Hunny thinks that I have strange dreams.
I don't think this means anything, I just thought it funny how it played out in my dreams!
We see the Genetics Doctor in one month.
BCCH Genetics called to set up an appointment for Rhys! We were on the waiting list for 15 months. I was told that the doctor has been "out of the country a lot", but we have a date set in August.
It should be an interesting appointment; I'm not too sure what to expect. I imagine that they will go over our history, and they will likely ask all of the questions they asked me to fill out in his referral last year April. Then they will probably want to do some tests and I will have to somehow get bloodwork done on him. (oh joys)
At this point, I am not expecting that they will find anything. That is, they won't find something unusual and non-family-history stuff. I am not expecting to find a genetic reason for his delayment. But I feel we should have this done just to put it at rest.
The whole thing is obviously on my mind though, as I had such a strange dream the other night with Rhys and Genetic testing. Rhys was standing at the end of a building, I think it was a cafeteria or something. He was playing and I was keeping my eye on him as he was in his own little world of digging. When I looked over, there was an older man with him and he had squirted something into this circular plastic dish. He commented to me, "He's really small." I nodded. "Yes, he is," I replied good naturedly. It's an odd statement that you're never too sure if there is a correct way to respond. The man repeated himself with more inflection in his tone. He wanted to get his message across. "He's really small." I nodded again with a thin smile. "Yes," I again agreed. That's when I realized this man was doing some sort of genetic test. I watched him seal the halves of the dish and then start to pump a level at the top. It made the liquids inside spin fast like one of those salad spinners. I watched the whole scene wondering how I felt and what I should do. Should I say something? Stop him? I was curious about his test, but I also wanted to wait for the professionals to carry out their own testing. So I kept quiet as I pondered my move.
Then I thought about how this strange man was able to get some DNA sample from my son and I somehow learned that he had Rhys pee into a cup for him! Well, that's when I lost it! I was so incredibly angry that some stranger asked my son to do that; something that we would consider private and innapropriate. I grabbed that dish and I started to yell at this man, "how dare you! you can't do that! you're not even a Geneticist!" By then we were in the cafeteria and he was now working behind the counter as a cook, and he was looking at me blank faced and his co workers stopped and stared and didn't know what to say or do! It was so strange. I remember wondering about the results and if I would be able to decifer them if the test was done, and then I wondered what kind of person was that interested in Genetics that they would want to conduct their own tests!
My Hunny thinks that I have strange dreams.
I don't think this means anything, I just thought it funny how it played out in my dreams!
We see the Genetics Doctor in one month.
Friday, July 5, 2013
So, we've been seeing Dr T monthly since December. She's our crazy pediatrician. While I had a lot of apprehension in seeing her again, I have to admit that it hasn't been too bad lately. Other than her habit of looking over his file while we sit in her office and wait; that's *slightly* annoying. And that she doesn't explain anything to me; that's incredibly frustrating. But, I mean, in a general comparison to how she was 8 years ago. She's not as bad as that. She's asked for a lot of blood work to be done on Rhys, but not nearly as many strange (and unnecessary) tests as we did for Kai (like the 72 hour stool collection. Wow, that was fun!) I just wish that she'd be open and informative with me. It's tough leaving her office with more paperwork and not knowing what she was looking for or testing. Like in January. I looked over the form for the lab and felt ill when I read her words: slight dysmorphic features, triangular facies, ftt, pointy insisors (like mom), possible Williams Syndrome?
I was wondering WT?
Triangular facies? Slight dysmorphic features? What the heck do those mean? Well, of course I had to go to Dr Google to figure it out! Just so you know, "facies" is a medical term, so if you do your own search you will only find medical pages as a result. (which is great if you can read those!) If you google, 'triangular face', you'll get results on how to decide on a haircut or glasses for that shape. So those got me no where! Dysmorphic features just means that something isn't symmetrical or "normal". It could be the eyes, or ears (one lower than the other, etc) or mouth. It really is vague.
So what is "wrong" with Rhys' face? I don't know. He looks "different", but it's not obvious to me. I can't pinpoint it. He has epicanthal eyes (which is common in Down's Syndrome and Asians, but can happen in preemies as well), which is where the inner corner of the eye has a bit of a fold. It could mean a genetic abnormality, or it could mean nothing. Bryn, also a preemie, and Eden, not a preemie, have it as well. It's not too noticeable on any of the three, I think. So what does that mean? Rhys also has large ears, but so does my Opa, so I assume that's where it comes from! So I don't know if any of this means anything at all.
I spend most of my January learning up on Williams Syndrome. I read blogs, I read articles, I lamented on the poor Canadian site, I watched youtube videos on it and I could see how Dr T thought it could be a possibility. It consumed me. And frightened me. As well as fascinated me. Williams Syndrome is a genetic condition that can result in heart problems, developmental delays, and learning disabilities. Despite that, those with WS have great verbal skills (although many do start out needing ST as a young child), incredible social personalities and a talent for music. Those with WS also have a similar physical appearance, which are a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin and puffiness around the eyes. Some blue-eyed children can have a lacy "starburst" pattern in their iris.
When I read up on it and saw the photos of those with WS, I noticed that he didn't have all the obvious physical features (such as full lips and upturned nose), but there were other symptoms that he did (puffy eyes, small chin, social) and that made it difficult for me. I went between thinking he had it to being unsure.
In February, we found out that the FISH test came back normal. No Williams Syndrome. And as much as I was relieved, I was also sad. It's not that I wanted him to have a rare genetic condition (only 1 in 10, 000 have it) but if he did we'd at least have an answer and could move on. I just wanted to find something so that we'd move on to a specialist and not have to see Dr T anymore! But instead, we were back to wondering. Plus, the more I read about WS, the more I loved those with it. They are endearing and friendly and so happy. They made friends wtih every one and no one (literally) was a stranger (which can be scary for parents to deal with). Sweet sweet people.
February also got us a new pediatrician, since Dr T was on holidays. A Dr Jekyl. I'm serious! You'd think she would've changed her name or something; imagine all the jokes at her expense! :p But I loved her instantly! She was just filling in for the week though and didn't have her own practice (phooey). She was friendly and actually explained things; actually talked to me. Wow. Imagine that!
According to all the blood tests done in January, Rhys' iron was normal, he's not anemic, his protein levels, liver, thyroid and blood vessels are all normal. He doesn't have celiac either (something I didn't they were testing for). We were still waiting on the karyotype results though. Oh, and Dr T was looking a Fragile X. And we may get referred to Genetics. And Dr J would put in a referral to the Centre for Child Development preschool (which is a huge centre for children with severe developmental disabilities that is literally down the street from our old house) It was a busy and helpful visit!
In March, the karyotype results still weren't in. I didn't know what answers it would give us, or if it would even help at all, but it was something to cling to. In April, we found out that the one test that I was waiting for wasn't even done! She didn't end up requesting it! grr. Fragile X is diagnosed by a simple blood test, by lookng for the FMR-1 gene.
*sigh*
More blood tests. More waiting. If God is trying to teach me patience, it's a slow process. I'm trying to learn to be okay with everything, and to trust in His timing, and to wait for it to fall together. I had a few friends remind me that having a diagnosis doesn't change Rhys, having a title doesn't make him any different, he's still the same Rhys we love. And that's true. But I wasn't looking for a 'new Rhys'. I love him the way he is now. I just wanted to know what we are dealing with, so I can get the help he needs, if he does need it. I'm trying to learn patience as we wait for information to come in. Whatever happens, whatever they find or don't find, I am confident that God knit Rhys together with intention and love, and he is perfect in His sight. And in mine too.
I was wondering WT?
Triangular facies? Slight dysmorphic features? What the heck do those mean? Well, of course I had to go to Dr Google to figure it out! Just so you know, "facies" is a medical term, so if you do your own search you will only find medical pages as a result. (which is great if you can read those!) If you google, 'triangular face', you'll get results on how to decide on a haircut or glasses for that shape. So those got me no where! Dysmorphic features just means that something isn't symmetrical or "normal". It could be the eyes, or ears (one lower than the other, etc) or mouth. It really is vague.
So what is "wrong" with Rhys' face? I don't know. He looks "different", but it's not obvious to me. I can't pinpoint it. He has epicanthal eyes (which is common in Down's Syndrome and Asians, but can happen in preemies as well), which is where the inner corner of the eye has a bit of a fold. It could mean a genetic abnormality, or it could mean nothing. Bryn, also a preemie, and Eden, not a preemie, have it as well. It's not too noticeable on any of the three, I think. So what does that mean? Rhys also has large ears, but so does my Opa, so I assume that's where it comes from! So I don't know if any of this means anything at all.
I spend most of my January learning up on Williams Syndrome. I read blogs, I read articles, I lamented on the poor Canadian site, I watched youtube videos on it and I could see how Dr T thought it could be a possibility. It consumed me. And frightened me. As well as fascinated me. Williams Syndrome is a genetic condition that can result in heart problems, developmental delays, and learning disabilities. Despite that, those with WS have great verbal skills (although many do start out needing ST as a young child), incredible social personalities and a talent for music. Those with WS also have a similar physical appearance, which are a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin and puffiness around the eyes. Some blue-eyed children can have a lacy "starburst" pattern in their iris.
When I read up on it and saw the photos of those with WS, I noticed that he didn't have all the obvious physical features (such as full lips and upturned nose), but there were other symptoms that he did (puffy eyes, small chin, social) and that made it difficult for me. I went between thinking he had it to being unsure.
In February, we found out that the FISH test came back normal. No Williams Syndrome. And as much as I was relieved, I was also sad. It's not that I wanted him to have a rare genetic condition (only 1 in 10, 000 have it) but if he did we'd at least have an answer and could move on. I just wanted to find something so that we'd move on to a specialist and not have to see Dr T anymore! But instead, we were back to wondering. Plus, the more I read about WS, the more I loved those with it. They are endearing and friendly and so happy. They made friends wtih every one and no one (literally) was a stranger (which can be scary for parents to deal with). Sweet sweet people.
February also got us a new pediatrician, since Dr T was on holidays. A Dr Jekyl. I'm serious! You'd think she would've changed her name or something; imagine all the jokes at her expense! :p But I loved her instantly! She was just filling in for the week though and didn't have her own practice (phooey). She was friendly and actually explained things; actually talked to me. Wow. Imagine that!
According to all the blood tests done in January, Rhys' iron was normal, he's not anemic, his protein levels, liver, thyroid and blood vessels are all normal. He doesn't have celiac either (something I didn't they were testing for). We were still waiting on the karyotype results though. Oh, and Dr T was looking a Fragile X. And we may get referred to Genetics. And Dr J would put in a referral to the Centre for Child Development preschool (which is a huge centre for children with severe developmental disabilities that is literally down the street from our old house) It was a busy and helpful visit!
In March, the karyotype results still weren't in. I didn't know what answers it would give us, or if it would even help at all, but it was something to cling to. In April, we found out that the one test that I was waiting for wasn't even done! She didn't end up requesting it! grr. Fragile X is diagnosed by a simple blood test, by lookng for the FMR-1 gene.
*sigh*
More blood tests. More waiting. If God is trying to teach me patience, it's a slow process. I'm trying to learn to be okay with everything, and to trust in His timing, and to wait for it to fall together. I had a few friends remind me that having a diagnosis doesn't change Rhys, having a title doesn't make him any different, he's still the same Rhys we love. And that's true. But I wasn't looking for a 'new Rhys'. I love him the way he is now. I just wanted to know what we are dealing with, so I can get the help he needs, if he does need it. I'm trying to learn patience as we wait for information to come in. Whatever happens, whatever they find or don't find, I am confident that God knit Rhys together with intention and love, and he is perfect in His sight. And in mine too.
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