Today was the big day...the appointment with the genetics counselor and developmental pediatrician for Connor's microarray test results. I've been simultaneously dreading and anxiously awaiting this appt.
They walked in and the dev ped said "we wanted to sit down and talk to you because Connor's test showed something unexpected." My heart sunk in that moment and I physically felt...flattened?? I'm not sure if that's the right descriptor. She said "it showed he has velocardiofacial syndrome." I said "oh, that's what I WAS expecting." She said "you were? Well then you're two steps ahead of me."
What a relief!! I mean not a relief that he has a syndrome, because that means that this is a forever thing, not cureable or something he can grow out of. But it's a relief to finally have a reason behind all his problems, and it's a relief that it's THIS syndrome, because it is typically very manageable once you know what you're dealing with. It's very possible he'll live what most people would define as a normal life.
Now that we have this diagnosis, my husband and I both have to be tested as well as our other son. Connor also now has several new referrals to other specialists because they have to rule out other things commonly associated with VCFS. They drew a lot of labs today for immune function, calcium levels, hormone levels, etc. We have a referral to a cardiologist, and depending on the immune test results we'll get a referral to an infectious disease specialist. Speech therapy will be our biggest focus now, and we can relax a bit with the physical therapy (gross motor delays are common and usually resolve spontaneously by age 3-4 regardless of doing or not doing physical therapy, but speech therapy is a biggie)
They discussed delaying the two surgeries he has coming up (he has a lip repair on Friday and ear surgery on the 22nd) until his immune studies come back and he meets with the cardiologist. But he so far has no signs of any cardiac issues and those two surgeries are very necessary (as in impacting his ability to eat/swallow) so they decided that any possible risk was outweighed by the benefits.
SO...big appointment...overall good news, as good as it could have been I guess. I of course am sad that my baby really does have a chromosomal syndrome. No parent ever wants that for their child. BUT, I'm relieved that we got a diagnosis and that it's a well-known disorder with management available to us.
I'm sure I"ll have a lot of emotions to work through in the coming weeks as this all settles in. I've literally dreamed about this day, about sitting down with the dr for the formal diagnosis, about how I would react...so now I have to let it sink in that it was REAL this time, that he really DOES have a syndrome, that there really IS NO cure, that this WILL be lifelong. But at least now I know what the future will likely hold for him. No more guessing games. No more forcing the drs to take my kid seriously.
And here's some encouragement to all you mamas...the drs have all told me for 11 months that there was nothing wrong with him. It was only through my continued insistence and personal research and refusal to be ignored that we got to this diagnosis. Moms know. I wish drs would get that. It finally paid off for us...I pray it will for all the other undiagnosed kids on this board.
s to all of you.