Monosomy 18q syndrome and cleft palate

[skoi]

Youngest son was recently dx'd with this-- and it explains all of his symptoms wonderfully (except the kidney issues-- but I think that's either his genetics or bad Chinese formula he received as a baby in the orphanage). In one way, it's a huge relief to know that there really is something wrong, and I'm not exaggerating his issues or falling down on the job because he hasn't "caught up" since coming here at three. On the other hand-- I have an incredible feeling of loss (this is normal-- I hope?) that maybe he won't be all I had hoped he would. Not to mention the first thing they said was, "He'll need genetic counseling and should never have biological children."

Anyone have any experience with this syndrome?

Also-- any parents of kids with cleft palate out there? We have two with cleft issues, and are always looking for others.

 

[Deafgrrrl]

Hi Skoi!!!!!
I actually have this syndrome myself. Was googling, and found your post. Most people just think I'm hard of hearing, but its a lot more complicated then that to put it mildly ("Deafgrrrl is your syndrome a hearing loss syndrome?" " Got an hour lady?" LOL) In response to what I know you're going to ask....I am HOH, low muscle tone, clubfeet, dysmorphic features, learning disabilty, intention tremor, thyriod problems, history of seizures and other things I can't remember off the top of my head.
If you haven't found the Chromosome 18 Reasearch and Registry Society yet please join.(I can't post a link b/c this is my first post) ....when I was in high school, they said that only 50 people world wide had this syndrome...we now have about 800 people world wide who have been idenfitied as having this syndrome.
Your child will still be able to live a rich full life. Yes, its hard to find out that your kid will be "different".....but you know what? I know parents who grieve in the same way when they find out that their kid is gay or lesbian...your son still has his own story to write. The good news about 18q- is that the possibilties are still very much open as to acheivement. What symptoms does he have? I do know that kidney issues have been seen in 18q-

 

[skoi]

Sorry have been offline and didn't see your reply.

He has the cleft, mid-facial hypoplasia, hearing loss in left ear, cognitive and speech delays, hand tremors, some issues with kidney.

We knew he was "different" when we adopted him-- we chose to adopt him knowing he had a third degree cleft palate. I think the worry/"disappointment" is more from the reaction of the developmental pediatric staff when she told us-- and the whole, "he shouldn't have biological children." I know everyone doesn't want children, and you don't need children to be complete, but to me, that was like a huge door slamming-- like you can never have that part of a life. Okay-- I'm not crazy about the developmental ped. practice, so maybe that's a part of it, too.

Will go look for the registry and sign up. I didn't realize the number of people with the syndrome-- diagnosed-- was so small.

Thanks again.

 

[rafiki77]

Hello- my nephew and niece have 15q13.3 microdeletion. Welcome to the world of genetics. It's a crazy, mysterious world. Austin and Dakota have Autism, Birth Defects, Cerebral Palsy, Epilepsy, Visual Impairments, Hearing Impairments, Facial dysmorphism and much more. They also have another genetic disorder called Hypohidrotic Ectodermal Dysplasia. If you haven't gotten in touch with "Unique Rare Chromosome Disorder Support Group" I would. It has been very informative for us. There are only 104 people in the world to have what my nephew and niece have. They were the sixth and eighth persons diagnosed. Also the "Chromosome Disorder Outreach" is also a very good place. I hope all goes well for you and your little one.

 

[WheeledTraveler]

As far as the doctor saying your son shouldn't have kids, I'd say that from what I can find looking at info about Monosomy 18 syndrome, the doctor was saying if your son has, he'd probably pass it on. I think he's a little young for that to be a decision made pointblank unless they're positive it would actually harm him. Certainly people with most genetic conditions should get input from a genetic counselor if they want to have kids, but anyone with any sort of medical condition should consult with a doctor at the appropriate time. And whatever the doctor says doesn't necessarily have to be what goes. I know with the genetic condition I have, there are plenty of people who decide they don't want kids because for most people there's at least a 50% inheritance rate. While most actual experts say for the version I have pregnancy is safe, plenty would question the choice of having a kid with the high risk of passing my condition on. Personally, if I reach a point where I am in a relationship where I can provide the stability I want to have for a kid, I'm going to have a kid. This is knowing that there is a slight increased risk of problems for me during pregnancy/birth and that my kid could end up with the same genetic condition to some degree (there's no pattern to severity in inheritance for me).

Eitherway, your son is young and even if right now doctors are saying "don't have kids", who knows what will change in the next 10 years of medical developments. My experience is that doctors give worst case scenarios because even specialists are unlikely to have time to be true experts in everything their specialty covers. Worst case scenarios are what the books talk about. (I have a friend in med school who was told that kids with CP would never walk, talk, would be severely developmentally disabled and are considered a "poor outcome" - that same friend has CP.)

 

[skoi]

WheeledTraveler-- I understand what you're saying. I think part of my problem is that I'm not thrilled with the developmental practice in general, and they just make pronouncements and say things that get under my skin. They kept insisting that he couldn't do the things I said he could academically-- then they tested him and were surprised I was lying. So that sort of got our relationship off all wrong...

I'm just glad to know there is some explanation, rather than a bunch of unrelated issues- which is what people kept telling me when I knew there was something more than an orphanage-related developmental lag and his hearing loss. Not the sort of vindication I wanted, but I guess I got it.

Thanks also for he suggestion to find the appropriate "Unique Rare Chromosome Disorder Support Group" (I love that one). Have found it and will be getting on the registry.