Don't Know Yet

[Elizabeth]

Isaac had his first appointment with the geneticist this morning. We didn't really learn a lot, other than that he is a HUGE baby! At 10 weeks, he is 15 lbs, 6 oz. He is right about 24 inches, which is what they measured him at 3 weeks ago, so I am not sure that that is entirely accurate...and his head is 38.75 cm.

Anyway, the Drs that we met with seem fairly certain that his case is syndromic...they just aren't sure what the syndrome (or syndromes) might be. They are leaning toward Crouzans AND either Pfeiffer or Jackson-Weiss (which I can find very little about) but until bloodwork comes back, they won't know anything for sure.

The only "symptoms" they found besides skull/facial deformities were that his right 4th toe overlaps his 5th toe, he has deep line indentations in both feet, his chest is very narrow, and his nipples are uneven.

So, now we wait 4-6 weeks to find out the results of the testing, because they are sending it to a lab in Oklahoma where they will do a more in-depth study on it than usual because of the severity of his synostosis.

Also, I am trying to get ahold of the neurosurgeon to find out why his surgery is scheduled for January when she initially told us that she wanted to do surgery before Thanksgiving.

So much going on! I know you've all been there, but THIS IS SO STRESSFUL!

Elizabeth

[charliesmummy]

Im sorry your going through this with Isaac but it sound's as though you are on the right track & will soon get the answers you need. Whatever the outcome you still have the most adorable little boy. My thought's are with you xx

[mommysbudbud]

Any mention about his thumbs? How about his big toe?
I have to go back to my paperwork for my son because I always get the numbers mixed up, but either Crouzons is 50% not detectable and Pfeiffers is not 65% detectable, or the other way around. I can find the paperwork if you want to know for sure.
My son has been diagnosed with 'these' syndromes, the doctors lean towards Pfeiffers but appearance wise, he looks like a child with Crouzons. He has been through genetic testing 4 times and all have come back negative.
Sadly, their is no doudt at all that your child has a syndrome, the multi-cranio automatically puts him in that category. Which means, he will need several surgeries before he reaches his later teen age years. PLEASE find a good craniofacial team, NOT just a plastic surgeon. When dealing with a syndrome like this...TRUST ME when I say that a team is the only way to go. You need someone who has dealt with these syndromes before.
Please email me if you would like, I have a ton of information for you regarding Crouzons and Pfeiffers and can get you a great deal of support. I can probably find you families in your area. You are not alone!!!
Please check out CCAkids.com also.
Mommysbudbud@yahoo.com
Mom to Cole (2 yrs old with Crouzons-Pfeiffer Syndrome)

[mommysbudbud]

I meant to ask you about his palate, is it high?
Toes, on my son's left foot...his 5th toe is a little longer then the 4th one.
Every child is different.
Take care, Dawn

[Elizabeth]

The geneticist didn't mention his palate, but it is definitely higher than Hannah's was...

His thumbs and big toes are fine...just the 4the toe on his right foot overlaps the 5th. (who would have guessed that would be a problem??)

We do have a very experienced team...A great ns and ps, plus they work directly with the geneticist and several other doctors. In fact, on Mondays in their office they have a "craniofacial clinic" where all they deal with is these craniofacial disorders. I feel blessed to live where we do because we are less than an hour from Riley Children's Hospital, which is a GREAT place!!

Thanks, everyone, for your support!

Elizabeth

[mommysbudbud]

My son's cranio team also has a Craniofacial Clinic but once a month. That is when all of the doctors get together, I always have a list of questions.
The concern for the high palate is that the nasal passages are smaller. Breathing issues. How are his eyes? Are they prominent? Can he close them all the way when he sleeps? If not, their is a special drop you can put in them. We had to do that for my son, until he had his orbital advancement at 6 months old.

I am glad that you have a great cranio team. I have heard so many stories about plastic surgeons operating on children with these syndromes thinking that they knew what they were doing. Being a syndrome is not like having one craniosynostosis. It is much more complicated.

If you have any questions about these syndromes, please let me know. I would love to help.
Dawn

[jenniferh]

Elizabeth,

It sounds like you are really on top of things in the midst of this stressfull time. What a great mom you are and Isaac is so lucky to have you. I know waiting is hard. We will be thinking about you