chromosome deletion

[kweave]

My 20 month old son was diagnosed w/ 10Q deletion syndrome. From what I understand this particular syndrome is rare. I have search many websites trying to find others w/ the same deletion but I can't find much info. My son has global developmental delays. He has low set ears that fold down a little. His forehhead is large, but doesn't look so different that he gets stares. He is small for his age only 22 lbs. He was full term and had anormal birth rate. He did experience some respitory distress at birth but did fine shortly thereafter. My husband is a special ed teacher and noticed someting was different when our son was 2 wks. old. We didn't persue anything util he was 4 months and couldn't hold his head up well and noticed he was hypotonic. We were referred to a gentic specialist and he was given the diagnosis of 10q del26. I don't know the correct way to writ it but he is missing the 26th band of the long arm of the 10th chromosome. He can't walk or crawl yet. He can roll anywhere he wants to go. He isn't talking just making sounds and babbles at times. He has just started holding his cup and trying to feed himself finger food. He has a sweet disposition but does oject to things he doesn't like. He has a condition called hydroneuphrosis which basically is a reflux of the kidneys. He is doing well with OT. I have 2 questions. 1) Is there any way I can be put in contact with another family facing this same disorder? 2) through some of my research I have found that a deletion of the 10th chromosome has been linked to some cancers and something called cowden's disease. Is this accurate?

[Kevin Kennedy, Ph.D.]

I do not know of an association for families with children who display 10Q Deletion Syndrome, but perhaps some of our readers will offer some suggestion for you. While I was not familiar that children with 10Q DS are more likely to display Cowden Syndrome, the mutated gene responsible for Cowden is associated with occuirrence of malignant tumors. I reliable web site (of which you're probably already aware) re: 10Q DS is:

http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome157.html

[RMalkin]

Hi Kweave:

I came across your post last night in my search for anything I could find on 10q deletion. Our 7 month old grandaughter has been diagnosed with it and, like you, I would be interested in finding or developing some sort of support/knowledge sharing network.

Our grandaughter's facial features are completely normal. In fact, she's quite pretty. That's the good news. She was born with VSD (ventricular septal defect; a 'hole' in her heart) which seems to be closing on it's own. She has strabismus (one eye is cross-eyed, intermittently). She was born with an aspiration (a hole) in her esophagus that allowed formula to go into her lungs instead of her stomach. As a result she wears a hose that goes through one nostril all the way down to her stomach. Her formula is gravity fed through the hose. She's worn this hose for two months now. The aspiration has closed on it's own but she can't take a bottle or solids until she re-develops her swallowing reflex. She's on antibotics to prevent further recurrences of a urinary tract infection caused by kidney reflux. We're not sure where she's at as far as mental development. She was dull at first but once we got all the infections and feeding problems sorted out she seems pretty sharp and aware so we really don't know what we've got in that department. The geneticist wouldn't hazard a guess as to whether or not she would be developmentally disabled or delayed nor to what degree if at all.

But the big thing is the hypotonia. At 7 months she's nowhere near crawling or creeping. It's only been in the last month that she could really hold her head up on her own. The poor thing wants to climb and move. She grunts and groans as she tries to roll or climb - you can see her frustration, it's heartbreaking. She's pretty good with raising her arms and grabbing things although this is pretty new.

Have you researched physical therapy for your boy? If so, do you think it's helped?

Our doctors have assured us that 10q deletion won't affect her normal immune system but one doctor we talked to was concerned about possible kidney scarring and the associated effect on longevity that may have. Have any 'longevity' issues come up for you? Your comment about Cowden's disease caught me completely by surprise so I guess I'd better go research that now.

Please feel free to ask any questions that occur to you - I'll try to offer what we've come up with and hopefully you can do the same for us. We're in northern California and have been taking the baby to Stanford Children's Hospital. How about you?

- Rob Malkin

[kweave]

I'm sorry to hear about your grandaughter. She and my son have some things in common. He has a kidney reflux as well as a small hole in his heart. He had a slight case of strabismus but it corrected on its own. We take him to a kidney specialist (nephrologist) at the Medical College of Georgia. He also sees a pulminologist for his asthma. We have also seen a neurologist there also. This hospital is a 3hr. drive from our home but well worth it.
our son began occupational therapy when he was 5 months old. It has helped tremendously. His pediatrician referred us to an organization called Babies Can't Wait. Some states offer this program so it would be worth checking in to. You should be able to find out from your local Dept. of Human Resources. This program offers supports for disabled children up to age 3. The therapist our son has works for them as well as in our local school system. She comes to our home weekly for 30 min. They usually base the amount of therapy on the need. We are soon going to have a speech evaluation. He has said only a few words and they are very random. He also has trouble chewing solids so we have to feed him soft foods.
Our son is just beginning to show intrest in crawling. He tries so hard but has low muscle tone in his upper body shich hiders so much of his develpoment. He can sit when placed but he prefers to roll to get around.
He has many allergies but we have not yet seen an allergist. He is allergic to wheat, eggs, and milk. He is congested pretty much all the time and gets frequent ear infections.
He also doesn't seem to have a mental disability. He is very alert and has good eye contact. He understands things we ask him. We can ask if he is hungry or if he wants his cup and he will grunt. He yells loudly if he opposes.
It is so nice to find another family going through this. I hope I have been of some help to you.

[dustyb]

Hello I was just searching for info on 10 q deletion and gastric reflux when I came across this group. My son has 10 q deletion syndrome and I belong to several groups. Firstly Unique (www.rarechromo.org) which is based in the UK and they have a great book on rare chromosome disorders and a leaflet dedicated to 10q deletion. Another group I email to as and when I get the time is a yahoo group. You can join them by mailing to:- 10q deletion-***@****. This group is particularly active and has members who regularly mail and share information and I have found it very supportive. My little boy is now 6 years old and remains a constant challange which is why I have come across this group whilst searching for more information. I hope this information is of use to you and hope to see you on the yahoo group soon.

Annette

[RMalkin]

Thanks for your reply, kweave. Especially for the comments about OT. I think we're going to get on that immediately.

Annette, thanks for the sites for 1-q-deletion support; invaluable.

- RMalkin