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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