Wednesday, July 17, 2013

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?


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