We Have A Diagnosis!! - Mothering Forums

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Old 02-07-2008, 01:18 AM - Thread Starter
 
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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.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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Old 02-07-2008, 01:21 AM
 
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That is GREAT that you have a diagnosis, I am very happy for you! I will be thinking of you as you navigate what this means for your family. It is exciting that you can finally really move in the right direction.

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Old 02-07-2008, 01:21 AM
 
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Congratulations and I'm sorry, if that makes sense.
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Old 02-07-2008, 01:23 AM
 
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Wow. What a day. I'm so glad you know. The knowing is always better than not. And it sounds like the known here is something you can manage. I'm sure a lot of emotions are coming. But also a lot of peace and rest.

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Old 02-07-2008, 01:24 AM
 
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I am so happy that you have got the answers you were looking for.
You lil boy is just precious. I just watched your one true media montage.
May peace surround you and your family.
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Old 02-07-2008, 02:58 AM - Thread Starter
 
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Originally Posted by mamaverdi View Post
Congratulations and I'm sorry, if that makes sense.
It does...and thank you

Now I can't sleep...my brain is running rampant wanting to learn everything about it in one night. I think the next several days will be sleepless...

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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Old 02-07-2008, 03:15 AM
 
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It does...and thank you

Now I can't sleep...my brain is running rampant wanting to learn everything about it in one night. I think the next several days will be sleepless...
You have my congrats and a little sadness too. I hope you get some sleep and peace soon too, although I am anxious to see what you learn!

secular classical-ish mama to an incredible 5 year old DS and an amazing 6 year old DD.
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Old 02-07-2008, 10:15 AM - Thread Starter
 
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Well, dh and I stayed up until 1am reading through what the geneticist gave us. Separate at first, then together, and we talked a little bit. We have a lot of talking we need to do still, but it's a start. He's been pretty much in denial for the last 11 months, so this must have hit him hard. He knew nothing about VCFS going into this appt. At least I had researched it beforehand.

Then we went to bed and neither of us could sleep. I remember seeing the clock at 2am, 3am, 3:30am, 3:40... Then I woke up at 5 something and decided to re-set my alarm to give myself more time to sleep (Ha!) and then finally got up at 6:30 to start the day.

So it'll be another caffeine-dependant day for me... joy.

Connor has his lip surgery tomorrow, so tonight will be another night of little to no sleep, followed by a weekend of fussy baby I'm sure.

It's moments like this that I wonder "can I really do this?" But of course the answer is "yes, I can, I am, and I will."

SO...off to make some coffee.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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Old 02-07-2008, 10:39 AM
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I'm glad you have some answers. Connor is lucky to have a persistent mama. Hoping the surgery goes well and you get some sleep soon!
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Old 02-07-2008, 10:46 AM
 
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So glad you've got some answers finally. I know it's hard for your dh especially since he's not been with you in the research journey - I hope he can recover himself quickly and move with you. I know that once my husband recognized the basic things *I* had been seeing all along, we were far better able to communicate and work together.
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Old 02-07-2008, 11:16 AM
 
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I am so glad you guys finally have an answer!!!! and that it's manageable! I have thought lots about you guys in the past and it's nice to know that you'll never have to wonder what's going on again. I bet it takes a huge weight off your shoulders. s
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Old 02-07-2008, 11:35 AM
 
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but said he doesn't have it. We go again in July. I hope we can get a diagnosis too but I think my son is the first of his particular mutation. (Sounds awful to word it like that but I am thinking about when he starts a family and wants to know if he'll pass anything on.)

You have a lot of info to digest!

Sincerely,
Debra
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Old 02-07-2008, 04:52 PM
 
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I'm so glad you finally got an answer! And how incredibly brave and wise you are -- to realize that no one ever wants this for their DC but that you "can" and "are" dealing with it. I'm sure their will continue to be ups and downs as there always are, but it sounds like you are definitely on the right path. Here's a big hug coming your way!

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Old 02-07-2008, 06:16 PM
 
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It's so nice to have answers and good for you for perservering!!!!
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Old 02-07-2008, 09:27 PM - Thread Starter
 
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Today was hard at work...everyone wanted to know, there were so many questions, a few tears, lots of hugs...I wasn't ready for that. This is much more complex than I anticipated. And I had to tell my two bosses personally instead of just telling one girlfriend and letting the word spread, you know? I don't know...it was just...hard...

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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Old 02-07-2008, 09:43 PM
 
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Oh 2boyzmama

And I didn't realize he had surgery tomorrow. Good luck. Speedy healing.
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Old 02-08-2008, 12:23 AM - Thread Starter
 
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Oh 2boyzmama

And I didn't realize he had surgery tomorrow. Good luck. Speedy healing.
Thanks.

Hubby and I went out to dinner and then went to the pet store to play with puppies. A nice way to do something fun for a little while. Connor nursed and slept happily in the sling the whole time. He's SUCH a good baby, always has been.

Tomorrow will be a long day for sure...

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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Old 02-08-2008, 01:19 AM
 
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what good and sad news.

i don't know if this helps but when we got the lo's diagnosis i sent out a huge announcement email to EVERYONE i could think of - it was long, detailed, thorough. that way we didn't have to deal with any questions - any possible question was already answered in the email. and then i took a couple of days to process everything before reading any responses.
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Old 02-08-2008, 01:37 AM
 
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I know this is all new to you, and I do sympathize, but I'm happy for you, and your little boy. It's nice when it's something tangible, something that at least a little bit is known about. I do hope you're not carriers, esp. if you wanted more kids, I'm going through that right now and not liking my options! but at least there are options.

You were right. Gee, guess you can be a pretty brilliant person without an MD after your name!

DD1 7/13/05 DD2 9/20/10
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