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.