unexpected outcome and our first IEP

I met with the Learning Assistance Coordinator at the school and she had bad news for us. Unfortunately the assessment report from Fraser Developmental Centre wasn't enough. First, they didn't receive it in time to apply for school support (which needs to be done by the end  of September to  register with the Ministry of Education) and the short report they got didn't have enough info on it. Second, upon receiving the full report, the LAC and SEC (Special Education Coordinator) went over it carefully and they aren't able to apply for extra help for him when it comes time in February 2016 either (the second time schools can apply).

So no Aide for Rhys.

At least for now.

The wording that I struggled with they did as well. ("You may wish to identify him as having....") The big issue they had with the diagnosis of Complex Developmental Behavioral Disorder (CDBC) is that Rhys doesn't completely fit that description either. He does not have any behavioral problems. That is, no aggression, or self harm, or class disruptions ,etc. And that Behavior is an important part of CDBC. So they didn't feel that they could properly label him that way. Even though as I was told they really wished they could.

*sigh*

To say I felt disappointed would just slightly address my feelings. I felt it was a step back after our gains lately. And I was worried about Rhys not getting the help that he needed. But I have been assurred by the LAC that while Rhys may not have an Aide, he will always have an  IEP. And they will always have him placed in a classroom where there is already an Aide, who is able to help him as needed. That encouraged me.

Despite that set back, I do not feel that Rhys will "fall into the cracks" like it felt last year.  He has such a wonderful teacher (who R and I both love) and the same Aide in the class as last year (who I've been talking with) He also has this report from Sunnyhill and they can't ignore that. But the truth is that Rhys really is doing well. Yes, he is about 1-2 years behind in a lot of ways, but he just needs direction, and he doesn't need that all of the time. So I understand the confliction in this decision.

When I met with the Learning Assistance Coordinator and his teacher last week for our first IEP meeting (Independant Education Plan) I had a bit of nerves. I wasn't too sure what to expect. And it's funny how despite not knowing for sure, you can always end up feeling as though you weren't really expecting the outcome in the end. The meeting was different than I thought it would be. We started with his strengths (which I think is always a good place to begin) and then his needs, and then delved into the many categories where he needed help. With each heading (Communication, Social/Emotional, Acedemic, Physical/Independance) we discussed areas that he needed to strengthen and the LAC gave us solutions on how to meet those concerns. It really wasn't a surprise, really. Nothing was said that I didn't already know, and thankfully most I had already discussed with the Learning Assisstance Coordinator so it felt more like an 'official recap' for the records. So un-climatic!

I am going to see Rhys' pediatrician and see if he would qualify for more help elsewhere, as we agree that Speech Therapy and/or Occupational Therapy would benefit him. As his teacher said, learning disabilities don't separate kids too much, but something they see will eventually set him apart, such as his inability to run properly or do simple things like skip. Maybe there is a program that we can get Rhys into that's locally run and doesn't cost a lot.

I really do think this year will be a good one, though. We are making small steps. He is in the right school, and placed in the perfect classroom, and he is loved by many.

Another Specialist, Another Group

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:

• 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.

What we've been waiting over a year for: R's Assessment

It has been almost two months since we had Rhys assessed at Sunnyhill. Or rather, it was done at the Fraser Developmental Clinic in New Wesminster. When we were sent there I was unclear if FDC was a part of Sunnyhill or contracted out and if we went there due to a shorter drive distance or due to S being so busy. But whatever the reason, I was very pleased with our experience. The Fraser Developmental Clinic has a very professional and caring staff of specialists (plus a friendly and fun receptionist). We were there for 8 sessions over a 5 day period. Most were interviews with Hunny and myself, some were just with Rhys, which was hard at first. To not be in the room with him, that is. Other than school (or a birthday party or Sunday school), I have always been with him, being his voice and advocate. And here, he had to see a few doctors without me in the room. It took me a bit to get used to. Handing your child off to people you don't know, whether they are professionals or not, takes a lot of trust.

At the end of our sessions, we met with all of the Specialists for a conference to discuss the results. (minus Rhys) We met with the Developmental Pediatrician, Psychologist, Speech-Language Pathologist, Clinical Social Worker, Occupational Therapist, and a Case Manager. I was so nervous! What if they said nothing was wrong? What if they mentioned something that I hadn't thought of or mentally prepared myself for? Would I cry? (I thought I would, so I brought tissues in my pocket, just in case!)

The conference was, to be honest, quite anti-climatic. They didn't say anything that we didn't know or observe on our own. But they give us a few names.
-Verbal Learning Disability
-Written Output Learning Disability
-Math Learning Disability
-Reading Learning Disability
-Communication Disorder (more info on that HERE)

That's a lot of Disabilities and Disorders. Which is sad.

 First off, they started by reminding us of what a sweet boy he is (we know!) and how friendly and caring he is, and what a fun gentle spirit he has. (we agree!) The Psychologist talked the most, but she, and the Speech Pathologist and Occupational Therapist gave the most info. But really they were all so helpful. The diagnosis they were able to give us were "verbal learning disability" (he has never been good with verbal and has a poor memory, and learns better visually) and "communication/language disorder." So no surprise there. They did not say that we needed to get him therapy somewhere (although, if it worked for our family, they'd suggest ST) but they were going to "Strongly Recommend school support" to our principal. That was an answer I was really looking for! I don't know what exactly that will mean, or what the school can/will provide for us, but I am hopeful.


They mentioned how this is a life-long disability, and how he'll have a hard time in school due to it (academically speaking he'll struggle with concepts, especially since most are verbal, like math and reading) but he has other gifts (he is good with fine motor and loves to draw) and they gave us some tips. His "executive functioning" was below average. That made me sad.

 The Developmental Pediatrician said that we will probably never know why he is the way he is, but it looks like we have had every test or procedure done and we have done a good job. The Social Worker (who turned out to be not as helpful as we were hoping or expecting) said that it is probably something passed down in our families (we both had fathers with speech delayment as young boys); she may be correct. They did rule out it being from the True Knot in his cord discovered after his birth, since he doesn't have severe developmental issues. (it was good to put that at rest in my mind) But despite those comments, we have not cancelled our appointments with Genetics!

These titles should be able to get him the help in school that he needs. This means that we'll get to join the many who have an IEP for their child --something that I hadn't thought of before. I'm not too sure when that'll happen or what it really means, but I am apprehensive as I've heard so many discouraging stories of parents being in tears or frustrated at the IEP meetings since their child's needs aren't really being met. I'm nervous about that. But I'm trying not to think too far ahead.

Another title mentioned was Complex Developmental Behavioral Condition (CDBC), which is baffling me. There is very little information about it online. A lot of clinical pages, or ones on getting referred to have it diagnosed, but I'd like personal stuff, like blogs and pages on people it really effects. (which is one of the main reasons why I blog about Rhys'  issues... I know that he isn't the only one out there, and maybe someone else will read this and find comfort and support. Hang in there, Stranger! *fist bump*)  The other confusing part is how it was presented to us. They mentioned it briefly during the conference, so I was hoping more would be said in the full report. Instead it was added as an extra, saying that the school "may wish to identify R as having CDBC according to the Ministry of Education.....and recommend additional support in the classroom under this diagnosis."

What does that mean???

I'm not too sure what to do with this information. Does he have CDBC or not? Is it a diagnosis or isn't it? Don't the Specialists need to diagnose it not the school? Maybe it will help the school in receiving funding for his care and support, but what does it mean for Rhys? Isn't this name a bit more important than all of his learning disabilities? After all, that is an actual name...something that makes sense. It sounds impressive. It says something's going on. It has a label that I can explain to others.  Yet it also doesn't explain much at all.

After waiting for a good two years for this assessment, I'm finding it not as bomb-shell-useful as I'd hoped. I wanted answers, ...and I got some. But I also got more questions! This isn't really the end, but more of a beginning.

I think I'm going to have to meet with our own pediatrician for more answers. But for now this is a start. A partial diagnosis.  I'm happy that along with the really long full report, the specialists at least gave some recommendations for us, which appear to be very helpful. (They also included an extra report for us to give to the school.)


I remember being told by many friends that doing an assessment or having a label or diagnosis won't change Rhys. They seemed to say it to deter us from searching for something that may not matter. And they were right.

These names don't change him. But they help him. And that's a good thing.

recovering

This is just a gentle reminder to myself, and to anyone else with chronic pain and illness.

I understand.

Some days will be rough and you'll be on the couch resting, trying to breathe, and that's ok. Don't beat yourself up. Some people will understand (hopefully you've surrounded yourself with more of those people) and some won't (hopefully you've disregarded their words and realize they are from those who just don't get it.)  


Good days will come again!

step one, check!

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! 

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!

the diagnosis we already knew about.

Just an update on Abi and her health:

Abi had been diagnosed with asthma!

I know!  Crazy isn't it?  

I got a phone call from the doctor saying that she wanted to see her to go over test results, so we booked her in on a Friday morning, letting her miss some school. I couldn't remember any recent tests that she had done. Except there was that Respiratory one, but that was over a month ago! When we got in, the doctor had the results on the breathing test: she wanted to let us know that her asthma has been confirmed!

Abi and I were quite bewildered:  we didn't realize that her having asthma was under question!

Apparently before it was only "borderline".  Curious.  After the asthma attack that almost killed her, and the small attacks she gets even after we've eliminated her typical allergens, we had just assumed.  Silly us.

Well now we know.

Phew. I'm so glad that she skipped her morning classes for that bombshell!

someone slap a label on that kid!

It's funny how you spend so much effort as a teenager making sure no one labels you (unless if you were in the 'Popular' crowd, then maybe you liked that label) When you head into parenthood, you try to do everything right for your child so that no labels stick on them either. Labels are a bad thing, after all. They often identify you to a group, and most of the time, we want to blend in, and not stand out as being associated in a crowd.

I spent my teens hot headed (shall I say a bit Fiery?) and stubborn; disassociating from certain groups. I wasn't Popular or Athletic, nor was I a Skater. I wore the label Weird with pride, sometimes with indifference. I wasn't loud, but I was confident. I had enthusiasm and hyperactivity, yet was quiet enough to be a compassionate friend and listener. I didn't fit the stereotypical teenager seen in movies or on tv, or in books or on the news. And I was proud of that. Although I sometimes felt the need to fit in somewhere; a desire to be a part of a recognized group.  (As an adult, I now see that my small knit friends was the perfect group all on its own; we didn't fit the typical labels.  I see how there were more of Us in that average-but-awesome group than Them with the groups!)

We always seem to fight labels as if they are a negative thing, but I'm entering into a new territory that makes me question the aversion.  Especially with World Autism Awareness Day last month (April 2) and our own searches for an answer to Rhys' delayment.  Autism is one of the most recognized disorder out there right now and effects 1 in 68 children, according to online searches. (I came across a magazine article written in 2011 that said the stats were 1 in 100 children. Wow. Quite the change in 3 years!) It is not contained to a certain geographic region or race and effects so many lives that the UN has declared a National day of recognition for it.

I think it's great that there is so much going into support to help families deal with the complex issues they face with Autism. And it's great to see walks and fundraisers for more research so that the help is there.  But it is on a day like that day that it makes me wish Rhys was Austistic.

Now, dont get me wrong. I do not wish any type of disease or imparement or illness or stigma on any of my children. But I do wish I had an answer for him. And autism would be an "easy" one.  It would mean knowing how to deal. It would mean having a plan. It would mean getting the support he needs. It would be a start to the next phase of life, but at least that phase has a huge community of doctors, supporters, therapists, and even celebrities all who understand and deal with the same things you deal with. And that label gets you in the door.

I have looked into the  Austism Spectrum but Rhys just doesn't fit that many criteria; and I keep looking every few months. I do those at-home tests online, but it doesn't all add up. And I've had his preschood teacher and his doctor and pediatrician all say that he doesn't fit the label. Which is a good thing. But also a frustrating thing.

Currently, he is a label-less boy who is falling through the cracks.

As I wait for something to pop up for him, I find my other son seeking a label as well.  I was talking to my friend about the teacher thinking that Kai may have ADHD, and my surprise at him fitting some of the symptoms. She looked concerned and replied with a shake of her head, "Oh, you don't want to put him on medication!"

I understood her thinking. It can seem that doctors and teachers want to medicate and subdue our children. Especially our boys. And it's not something that I want to do either, but after talking with the school SEA Co-ordinator, and seeing how Kai is at home, I can't help but feel that I'd accept medicating him if it will help!

If slapping a label on him gets him the help he needs, then I'm all for it! Please, give us a name! I am learning that without a name, schools can't seem to do anything, and doctor's don't know what to do. We need that label to move forward.  I'll take an "easy" and friendly, well-known one (like Austism and ADHD). I'll even go for a complex one that is misunderstood. I just want something.

And to think that one day I would be desiring a label for my child! We don't want to let a name hold him back, but use it as a way to understand and learn. And to move forward. 

It helps get you through the door.

Confirmation

We finally got our confirmation letter that Rhys will be seen by the Complex Developmental and Behavioural Conditions Program (CDBC) at Sunnyhill!

I may have cried a bit when I read the letter!

We don't have a date yet and I don't know how long the wait is, since I have to mail in our consent forms first (so that they may inquire with anyone else who has worked with Rhys in the past).  I also have to track down any forms from recent doctor and specialist tests and visits to send along. But this is a start!

Falling Through the Cracks

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.

just breathe (wordless wednesday)

ETA: (ok, so that wasn't very "wordless". oops.)

a new angle

A few weeks ago, my husband and I were called in for an appoitment with Kai's teacher. That's never a good feeling! She has been really concerned with his school work and behaviour, saying that he has missed a lot of school and isn't completing work. We had talked to her about this in the Fall, but we thought things had gotten better.  She is worried that his schoolwork is failing due to health issues as he's falling asleep in class and is basically a zombie and not seeming to take in any information.  

We have troubles with him at home with getting to bed on time, generally listening to us at all really, with doing any time of chore or task. He also has NEVER been bothered with consequences, which makes things difficult. He'll throw a temper tantrum at first (and, yes, he is 11yrs old), but be stubborn enough that he won't be bothered by it later. We have been struggling with finding a way to deal with him, but everything seems to turn into a fight. It's been rough.

Other than the usual stuff that we already knew about...his teacher mentioned something that completely surprised me. She wondered if he has ADHD! The funny thing is that my husband agreed it was a possiblity. I'm not saying that it is NOT possible...I was just so surprised as it had never crossed my mind before! However, I looked online and found the list of symptoms on the Mayo Clinic site and was surprised at how much of a possibility it is!

 Attention-deficit/hyperactivity disorder (ADHD) has been called attention-deficit disorder (ADD) in the past. But ADHD is now the preferred term because it describes both of the primary features of this condition: inattention and hyperactive-impulsive behavior.
Signs and symptoms of ADHD may include:

• Difficulty paying attention
• Frequently daydreaming
• Difficulty following through on instructions and apparently not listening
• Frequently has problems organizing tasks or activities
• Frequently forgetful and loses needed items, such as books, pencils or toys
• Frequently fails to finish schoolwork, chores or other tasks
• Easily distracted
• Frequently fidgets or squirms
• Difficulty remaining seated and seemly in constant motion
• Excessively talkative
• Frequently interrupts or intrudes on others' conversations or games
• Frequently has trouble waiting for his or her turn

( see here for more information:  )

In our meeting, the teacher had also included the school Special Needs Coordinator, who deals with ADHD students. We had never met her before, or even knew her name, and she hadn't met with Kai before this meeting either, but the teacher thought it would be good to bring her in just for an assessment.  We were fine with that because this problem was starting to become something bigger than we had thought it would be. While we didn't know he was having this much trouble in class (his teacher said that one week he was such a "zombie" that she didn't even know if he even learned or listened to a thing that whole five days, and thought it may have been a write off in terms of usefulness. Wow. Harsh. Bigger that we thought.)  we did know that he was becoming more difficult at home. So many late nights, so much frustration and anger and temper tantrums, and so much arguing and causing fights. He made car rides so stressful! And we were at our wits end with what to do for him, but knowing something had to change!

At the end of our appointment, the SN gave us a questionaire to fill out. One for us and one for his teacher. And, just like in filling out one for Rhys and his special needs, I found it hard. You have to sit there and focus on all the possible negative qualities your child has, and it is tough on a mommy heart. Some of the questions were surprising, such as "has your child ever stolen when confronting others (ie mugging, purse snatching, armed robbery)?" or "Has your child ever assaulted anyone sexually?" Those made me nervous and I was wondering, 'are you sure this is a school questionnaire and not something the police needs to know of?' eep!  You had to give your answers in numbers (0: not true/never all the way to 3: very true/frequently) A lot of them weren't too hard to answer, but a few had me not quite seeing it as my husband did, so we had to discuss them. The easy ones were "does your child blurt out answers before the question is completed?" or "annoys others on purpose" or "is the last to be picked for teams and games." or "is a poor speller" (that seemed strange to me, as if spelling had anything to do with behavioural issues) or "become irritable when anxious?"  (We haven't noticed any anxiety)  

The hardest for me were the last three questions:  does your child's problem seriously effect school work and grades? friendships? home life?

The questionairre also gave a place for us to write down what we thought were his strengths, but after focusing on negative things, it's hard to get into that mind set.  My husband said that he has "good mechanical aptitude". I laughed. That sounds so clinical. Who even knows what that means? I mean, other than my mechanically minded hudband!  We added it anyways.

So now we wait. I'm not too sure what will happen next, but I guess we will hear from the SN Coordinator and maybe do further testing.

Until then, we are trying what we can at home. We are being more strict in his bedtime and are giving him Melatonin to help him sleep.  I have never been one to believe in giving medications on a long term basis (other than ones that are medically needed, such as my thyroid pills and the ones Kai takes for his cardiomyopathy, of course) but we thought this was needed. Especially since it seemed no matter what time we send him to bed at, he was still staying up late and struggling to fall asleep and struggling during the day time. Sleep was one of the concerns his teacher brought up, so we knew we had to address it. 

We were amazed at how it changed him almost immediately! He was suddenly a happier boy! He wasn't fighting much with his siblings anymore and he was helping out in the family and it was just a shock!  I greeted him with a "hello" one morning and he responded "good morning!" cheerfully!  I blinked and wondered who this boy was!  Sometimes change is good!

Even his teacher has noticed! When she asked him about it, he said that his parents were making him take melatonin, and so she asked what he thought about it, to which he replied that it "felt like his brain was awake now"! Wow. What does that say?

I'm not too sure what will happen next, but I guess we are starting a new journey with him. One that has been needed to be addressed for a few years now. I'm apprehensive and nervous, but also hopeful. Maybe this could be the answer to our worries!

Assessment Reports and updates

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.

Genetics

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 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.

we finally got the call!

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.

doctor updates

Good news!!! 

  Rhys saw the pediatrician last week and in the past two months, he has gained 2lbs in weight and 4cm (apx 1.57 in.) in height! Woohoo! 

  I knew he had grown and I could see that he was eating more, but it was so nice to have the doctors see it too! You can also see it starting to climb on his growth chart now. (he's still in the bottom 3% for weight, but it's increasing at least.) He has finally outgrown his 3T clothes and is into 4T to size 5!!! YAY! We see the pediatrician again in two months. (his regular one will be back from maternity leave then so she'll see his growth too! I'm not excited about her being back---so soon? shouldn't you stay at home and bond with your newborn?---but I do want her to see how he is growing as well)

  Speaking of his appointment, there was nothing new. They really don't know what to suggest for him, so we don't need to come back for two months again. They like to point out several times, "so we're just waiting for Genetics then..."

  I have made an appointment for Rhys with the Dietician at the end of the month as well, just so she can see how much he has grown too! Yes, I am only going for that! She can see things are better and she can close his file and we can stop those silly meetings. I'm sorry, I know that their job is important and it's always good to know proper healthy eating, but every time I have had to see one for myself or a child, it is the same lecture each time: these are the food groups, this is Canada's guide, this is what you should aim for, what are you eating each day? Argh! I do not have a problem with knowing the guide (doesn't everyone? I mean, it's listed in doctor's offices, hospitals, grocery stores...) it's that I have some troubles implementing it all into my diet, apparently. We eat a lot of veggies, so that's not the issue. Maybe we need to cut back on the dairy? or starches, yeah, probably that. But considering our typical diet, I think we eat well enough. (although I really do need to exercise restraint more and cut out the cookies. I love cookies. And most sweet things. Phooey) Anyways...I think that a dietician would be more helpful if they could suggest meal plans or snack ideas. But have you noticed what they do suggest? It's never anything you eat! Increase my quinoa? (which I know is pronounced KEEN-wah, but I still have to say Kwah-NO-ah!!!) Hummus? Chick peas? I don't eat those now! *frown* I guess I should start.... 

  moving along....

I will be happy to have that behind me!

*******************************

  Kai finally got in for his annual cardiology appointment at the beginning of the month.  Hunny took him into BCCH. I think we were both a little bit nervous about me driving in by myself again, which I was a *bit* bothered by (after all, I had been doing this for 8 years, I could handle it on my own) but I was also looking forward to having someone else do it.  Of course, having Hunny go was not at all like what I have to deal with; when I go in, I have to take several other children in with me and try to keep them occupied at the same time. (typically two younger siblings, but sometimes I've had to bring them all in if his apt fell on a no-school day.) It's stressful. I don't like it. I really really don't like it. But I was nice (which also irked me about me!) and I stayed home with R and E and picked up the kids from school and such while he went with Kai.

  I have to admit that I wished that I went in as well and got a babysitter for the Youngers. I don't like missing all the information! I have so many questions that I want answered, and I need to know what the doctor meant when he said certain things, and I wish I had something else to go on other than my husband's memory! Maybe I need to learn to let go a bit, but it's hard! I have been the primary caregiver and I feel left out of the loop just by missing one appointment!

  The good news is that his heart is still the same. He's growing. His heart is still pumping well. But that's also the bad news, right? Nothing has changed; his heart hasn't gotten any smaller. Yet, Kai is still healthy and active and Dr H is really happy.

  He said something interesting though about the origins of his heart enlargement. He has said that we may never know for sure what caused it to happen, but the idea so far has been that it was a virus that attacked it, but no tests have been able to confirm anything. At this appointment, he mentioned that it was possible that this happened in utero. And that shocked me and made me feel ill. Not because I felt any guilt. I knew that if this happened to him as he was growing and being knit inside my womb that it wasn't anything I did (because I recall my pregnancy was pretty easy, other than the nausea and fatigue, of course. And I don't smoke or drink or anything dangerous) It was the general feeling of fear and sorrow that I had. See, my younger brother died as a newborn from an undeveloped heart, and to think that my own son could've had an undetected heart condition while still in me was too close to home and it made me ache. It still does. I can't explain why. The two aren't even connected; they have two different conditions, but in my head I was fearful of those what ifs..... what if they were connected? what if it was worse for Kai? what if they caught it on the 20-week scan, when they specifically look at the heart? what if he was sicker? what if we lose him too?  And the fear is almost too much for me to take.  

  But it's all so silly! Why worry about things that didn't happen? I'm not even getting bothered about things that have occurred, but am feeling anxiety over the ones that could've, as in past tense! That doesn't even make any sense! I should let it go. Why fear over things that happened in the past?

  Fear is such a strange and silly thing.

  There is this quote in a book that I just finished that makes me laugh: "She picks sheer nonsense out of the air and panics over it."   (from the book "The Vanishing Sculptor", also titled "The Dragons of Chiril" by Donita K. Paul. page 205.  EXCELLENT series!!! But be sure to read the "DragonKeeper Chronicles first. Those ones are wonderful.)  It sounds like me right now, doesn't it? Maybe that's why I liked it so much! 

  So I'm trying to let things Just Be. 

  Rhys is good and so is Kai. And that makes me happy. More than happy; relieved, pleased. Maybe at peace too?

doctors, labels and not smart football players

I had a some-what funny conversation with my Dad a week or so ago. He had popped by since he was in the area and visited for half an hour. It was a nice surprise!  He was mentioning that he needed to do a blood test before his doctors appointment that week. I said I had to do a test on Rhys before his appointment next week as well. My Dad wanted to know why he needed to go to the pediatrician, so I said it was because he's delayed and we wanted to know why. His response was "So what? Some kids are not as smart as others."  Uhm....ok. Thanks Dad, that's great.  "He can play football. They're not very smart!" *snicker* Ok, good to know!

Yeah. My Dad comes from Old School thinking.

I think it's great that he can be so accepting that my son may not be as "smart as others", but this isn't about his intellegence, it's about his being behind by a few years. (as Hunny put it.) For me it's about finding out if there is anything we can do for Rhys, and if there is, let's do it now please!

We don't live like our parents did--where handicapped children were just the "retarded sibling" who couldn't do anything and had no chance. Today we have more resources available. And I'd like to use what I can to get Rhys as caught up as possible!

I wasn't offended or hurt by my Dad's comment. I did appreciate that he was so nonchalant about the whole thing and that it wouldn't be a big deal if Rhys were special needs in the end. But it did make me shake my head. I guess it's a good thing I've got 4 other "smart" children! LOL *smile*

It's hard to explain to family and friends who just don't see it as we do. Sure, R is immature, but so what, right?  Maybe they're being kind and making excuses is easier for them. But I made excuses too. It wasn't until I pulled all of his old medical notes and such earlier that I was faced with it. Rhys was at a 30-36ms range when he was 40ms old, according to a Gessel Developmental Stage quiz. (that's 2 1/2-3yrs when he was 3 1/2) I kept saying what everyone else said, "he'll get it one day", or "he has older siblings who help him", and "he's a boy!" But finally I had to stop and realize that he HADN'T caught up. And I don't know if he will or not. He may always be immature, but then finally "get it". I don't know. But as a parent, I need to know what are the expectations. When he screeches at me and wails "nooooo!" at every answer he doesn't want to hear or seem to understand, is this something that I need to correct or is it something that comes with his undiagnosed issue?

In May, Dr T added another label to Rhys' chart. She didn't tell me, of course. I just saw that it was written on the requisition for bloodwork. She wrote that he was FTT (failure to thrive. ugh I hate that title) and GDD. That one made me stop.  I had been looking at Global Developmental Delay for some time, but I had always shrugged it off that I didn't think he was. He could do more than what was listed, I was sure! But then I found this list on Kids Growth, and my heart hurt.

A Global Developmental Delay is a  general term used to describe a condition that occurs during the developmental period of a child's life (birth to age 18).

  

Common signs may include:

• delayed acquisition of milestones: the child is late in sitting up, crawling, walking
• limited reasoning or conceptual abilities
• fine/gross motor difficulties
• poor social skills/judgment
• aggressive behaviour as a coping skill
• communication problems

But since she didn't mention this to me at all, I don't know what to do. What does it mean? What should I be doing? ARGH!

********

This week we had our monthly visit with Dr T, except that it wasn't her, it was her locum; she's off having her 3rd child.  This doctor came from the Children's hospital and had an agreeable disposition which I liked and trusted.  I don't know if I'll see him again though, since he gave us a month off for our next appointment! We don't go back until September! Woohoo! (see, I told you  they are running out of things to do for him!)  The doctor wants me to contact the Centre for Child Development again to make sure we are on the wait list for preschool, just to keep our name out there and to confirm with them that he is attending preschool and not kindergarten.  But I feel torn about this.  See, as much as it would maybe be good to be at the Centre, it just does not fit in with scheduling. The Olders attend school in Langley, and the Centre is in the complete opposite direction in Surrey. There is no possible way I could make it for the morning class, or make it to pick up the Olders from school on time if R were in the afternoon class. Which is why we decided to go with the preschool that is at the school the Olders attend. But I struggled with the thoughts that if we truly were interested in Rhys' best, we'd make it work for him to go to the preschool at the Centre (if we were to get a spot, that is)...oh the Mommy Guilt!

At first, Dr N wanted me to contact the Speech Therapist about getting him back in for a consult. They saw him last in December and said that he was doing fine and that we could take the winter off. They'd contact us again in March. Except they didn't, and I didn't call them either since we were busy with Dr T and he was speaking so much better. (and, frankly I was annoyed with them!) But now he is five and I don't know if he's "graduated" from their program or not, or could he go back since technically he isn't registered at any school for the Fall? (you leave Speech once you start school, so you either graduate and are now at par with your peers, or you seek private ST, which is what we had to do for Kai.) They should've contacted us again since he was turning five and starting kindergarten age, as they like to work hardest on the older kids in the spring. But I'm sure if I call them, they'll make it out to be me who should've called them. *sigh* So I wasn't looking forward to that. But then Dr N decided to not have me call the ST, but to call the Centre. I'm trying to decide which one I'd rather do!

Regarding his stool test, everything is normal. Yay. Not too sure what that means regarding his elevated IgE, but I'm not going to worry about it. So far everything is coming back normal. Which is great in that he's not unhealthy, but it's sad in that we don't have anything else to go on.

*********
In other good news, I FINALLY got a hold of Kai's cardiology reception!  I had only been trying to contact them since the end of May! I had left so many messages on their machine; I was starting to get rather ticked off! I had our doctor fax in our referral to see the cardiologist (and I know that would've been done that afternoon, as her receptionist, Theresa, is good!) and so I was just waiting for a date for our appointment.  Except, things got even more frustrating.

Kai needed refills on his prescriptions. (he's taking Ramipril and Carvedilol currently) but when I called our pharmacy, his one medication had expired! Oh great! So I added that to my message on the cardiologist machine! Two days later. the pharmacist called me to say that they couldn't refill it because our cardiologist was on holidays, and oh, it was time for Kai to go back in for his annual checkup! I admit that I was a *bit* annoyed at the pharmacist for informing me of that, as if it were my fault he hadn't been in and that his prescription expired!  I let her know, somewhat tersely, that I was aware and I had been trying to call since May and hadn't heard back from the doctor's office despite all my messages!  The pharmacist's response was that maybe I needed to go in to the walk-in clinic for a prescription renewal. *sigh*

I did get him an appointment with our regular doctor instead of having to go see someone at a clinic and needing to go over all the little details, ugh!  But then two days after that, the pharmacist called me to let me know that one of the cardiologist's associates approved our medication, yay! Oh! And that afternoon, I finally got a hold of the receptionist! And I was nice and polite and didn't tell her how frustrated I was at her never calling me back! Instead I let her book the appointment for next month (when Dr H is back) in her cheery voice! So at least that is done!!!

Closing the Door

In April, we found out that the test that I was waiting for, the results that I was obssessing over, wasn't even done! Dr T hasn't didn't even request it! Imagine my frustration! :(  So I had to take Rhys back in for more bloodwork, and she had a lot of tests being done! There was a good 8 or 9 vials of blood needed! It was pretty bad!

I didn't tell Rhys beforehand that we were doing blood tests (I did tell him that we were doing "tests", I just didn't clarify how or what type), but he figured it out when we were at the lab, so he shrieked and squirmed. The lab tech (I can never remember what to call them.) had him wrapped up in a tight blanket, while I held his legs down and another woman held his arm, yet he still managed to move around enough to pop the vein! :( The poor boy! At least he was still enough for the attempt on his other arm, but silently crying. I felt bad, but the phlebotomist (that's just weird to say!) commended me for being so calm and relaxed during it, when most parents would be freaking out, so that made me feel better! Rhys was absolutely fine when it was done too!

Fragile X is determined by a simple blood test, looking for the FMR-1 gene. Such a simple thing, and it was taking so long to find out.  If you're like me, you may have heard of the term, but didn't know anything about it. Let me save you some time searching: Fragile X is the most common inherited form of mental impairment. It is caused by a damaged gene, the X chromosome. Due to boys having two X chromosomes, it effects them more severely, whereas a girl only has 1 and only show a few symptoms. According to the Fragile X Canada (lovely, easily read site too) it states:

       
"Fragile X syndrome can present itself in a variety of ways and in varying degrees. Some individuals experience significant challenges, while the impact on others is so minor they may never be diagnosed.

Symptoms can include:

• Intellectual impairment to varying degrees
• Delayed and abnormal speech
• Attention deficit hyperactivity disorder
• Anxiety and unstable moods
• Autism in 20-25% of people
• Long face, large ears, flat feet
• Hyperextensible joints, especially fingers
• Seizures (epilepsy) in about 25% of people
  
  The effect on boys tends to be more severe. Most boys have mental impairment and have some symptoms of autism.  Girls generally exhibit a milder form of Fragile X because they have two X chromosomes — one that works properly and one that doesn’t. As a result, females are able to produce enough of the FMRP (Fragile X mental retardation protein) to fill most of the body's needs, but not all. Autism is less common in girls and only one-third to one-half of girls have significant intellectual impairment. The rest have either normal IQ or learning disabilities."

Rhys has a few of the symptoms, but I still wasn't too sure. I thought that it was highly possible and was just waiting for that phone call. I read that it could take 6-8 weeks to get a diagnosis, so I just waited. And waited. And searched online. And read blogs. (some really great ones I loved to read are: A Day At A Time, by a mother with an older son and younger daughter with FXS, and   AwareneXs, about a boy with FXS. Please do check them out to learn more about this Syndrome and these wonderful children.)   Sometimes I think that we'll find nothing and that everything will come back negative. But  instead of filling me with hope, I am filled with dread. My "Mommy Gut" tells me that there is something....but what? The waiting and searching makes me nervous.

I found a whole bunch of Rhys' old paperwork (or most of it)...his past assessments, apts with IDP, Speech Therapy notes, everything I could find....and put it all into a binder. Even old journal entries on him, like detailed doctor instructions, etc at the hospital, but in my words and memory, plus my thoughts. Anything with info on his development. I was proud of myself for putting it all together! (finally a finished project!) And even Dr T was impressed and copied a few of my pages for her own file. *pats self on back* I was quite sad to read old doctor's notes, though. I had completely forgotten that when he was at BCCH at 3 weeks old they also did some genetic tests on him!  I read over their final assessment letter that was CCd to us in 2010 and was felt a rush of emotions; sad, surprised, worn. (again concerns about his "dysmorphic features") But if their tests didn't show anything abnormal then, why would tests done now help?

But Dr T sent a referral for us to see Genetics at BC Children's Hospital again. We got a form letter saying that there was a 12-month wait list to be seen, but if I filled their forms it would help. Good grief!  It's 5 pages on the pregnancy, what I feel are concerns, family history on both sides...tons of tough questions. I struggled with some of it. Some I can't quite answer because I can't remember, such as "when could he feed using a spoon? or scribble a picture?" Uhm, I don't know. I think those were at normal times. But I remember he couldn't walk until a week before his 2nd birthday, and he couldn't put 2 words together until he was 3 1/2 years old.  I had to fill out any concerns I had about his eyes, skin, throat/neck, heart, blood, lungs, endocrine system, bones...etc. and that was hard too. I don't know if I am "concerned" about these things, but I wrote down anything I could think about that may help, like that he has eczema, prone to spontaneous nosebleeds, weak muscles, hypospadius, constipation... *sigh* It is so hard writing out things like this. How do you look at your child and try to pick apart all the things that may be "wrong" with him? And then list them? It's heartbreaking. The question that took me the longest to answer was this one: "What does your child have the most difficulty with?"

I don't know what he struggles with. I honestly did not know how to answer that one. He is delayed. He acts younger than he should. His abilities are lower than typical. But the "most difficult"???  I finally filled it in similar to the very next question, which was: "Does your child have any behavioural difficulties? No? Yes? please describe..."  I said that he is impulsive and doesn't understand consequences. He lacks comprehension and understanding in simple instructions. His behaviour is immature and can be difficult on others as he can get hyper and doesn't understand what is acceptable or proper.

It is hard to write down all the things that make him different; to make a list up of all the things that aren't "right".  But I finally finished the form and will photocopy it for my own binder before mailing it. Maybe we'll get in sooner than later.

At our appointment with the pediatrician in June, we got a few test results back. Everything is coming back normal or negative. Which is good. His IgA, IgM are good, but she wants to do a stool test because his IgE was elevated. (those are all things that effect his Aunt, so she is often sick. It's complicated.)  ---yay, a stool sample, I'm so excited!  I'm glad that nothing is looking obvious so far. He appears healthy according to his blood!

A few times, Dr T mentioned how we were "waiting for genetics".  I think she's at a bit of a loss for what to do next. That's the feeling I got in May as well. She has sent him for all of the obvious tests and everything is looking normal and she's not too sure what else to do. Finally, I asked about the Fragile X test. I wasn't expecting anything, since it had only been 5 weeks, but I was hoping. She nonchalantly told me, "oh, that's negative too!" I wonder if she was even going to tell me if I hadn't asked! I'm happy the results are in so soon, but I'm frustrated at how she shrugged it off! I have only been *slightly* obsessed with FXS since February!!!  And, the thing is, I was really sure this could be it!

So I feel like a door has been closed on that. And that's a good thing. But also a sad thing.  If it's not that, then what?