Medical Issues, please help...

[Guest guest]

Hi all,

I am posting on behalf a friend with a 13 yo boy with Down syndrome. Any

help is greatly appreciated.

Kind Regards,

mom to Bridget, 18, ds, in MI

Over the last two months, we have had weird medical symptoms that seem to be

independent of one another but all came on at the same time. I have been

referred to Specialists to help with each symptom, but no one to address all

issues overall:

* Impacted dandruff that causes his scalp to bleed and he is loosing

hair (we now have a special oil and shampoo that appears to be helping and

his thyroid levels are normal).

* Hands and feet are turning purple during periods of stress and

coldness (we now know its Reynaud's Disease and not his heart)

* He began to have head ticks (think Tourette's Syndrome and you will

picture what I mean). These ticks start around 5pm each evening and his

eyes go independent of one another when it happens. He may have up to 20

ticks in one hour. I don't know what these are yet. The Dr had me video

tape them so they can assess if they are true ticks or mini seizures.

* He has had a tendency towards choking for about 9 years now and for

all of this time we thought that it was attributed to low muscle tone and

the difficulty moving food from front to back when eating. It was not

uncommon for it to take 1 hour for him to eat dinner. This all changed when

we had to call 911 twice in one week because he couldn't dislodge the food.

o So the Peds Dr referred us to a Gastro Dr who ordered a barium

swallow that showed normal (except the transfer of food which was slow).

They never even saw the mass in his throat

o The Gastro Dr. then ordered a esophageal scope test and immediately

put us on a liquid diet. During the initial scope they found what they

thought were tumors in his throat and couldn't complete the scope that day.

They scheduled another scope the following day and determined that he had a

large mass in his throat (about the size of an adult thumb nail) and a

stricture in his esophagus. They also did a nuclear scan to determine what

the mass was. They didn't know if it was a tumor, extra tonsil or a part of

his thyroid. They referred us to an ENT to do the operation to remove the

mass ASAP. So far all the biopsies have come back normal for GERD, cancer

and Celiac.

o The ENT removed the mass, but didn't feel comfortable addressing his

esophagus issue since it would require a feeding tube, ICU, etc. They

determined the mass was an extra tonsil and removed the mass from his

throat. They did not touch his other tonsils since the recoup time would be

7 days for a child his age. They also cleaned his ears and mentioned that

he has been clinically deaf for about 6 mos in his left ear. We were then

referred to a Peds Surgeon to address his esophagus.

o The Peds Surgeon used words like " rare and undocumented " - which

never makes anyone feel good. They consulted Children's Hospital to do

another scope test and determined that His esophagus did not have a

stricture, but that the upper part is narrowed and malformed. It normally

takes them approx 3 mins to get into an esophagus and it took them 15 mins

to get into his. They performed a dilation of the esophagus and are going

to see if it helps. They also said he is having esophageal spasms and has

an esophageal motility issue.

o We wont know any more with regards to next steps until next week.

We are just now getting back to normal, soft food and he has lost 10 lbs

(which is a lot for his little frame). Next step options include: another

dilation to the esophagus or the cutting of the narrowing to see if there is

an improvement.

I have found that skin issues, Reynaud's Disease and esophagus issues are

all symptoms of Scleroderma, but I haven't had a chance to ask the Dr about

all of this yet. I find it extremely weird that all these symptoms have

started right about the same time. None of these symptoms can be traced

back to DS in anything I have read so far.

We are over the edge with all sensory input. He won't tolerate clothes

after the late afternoon (which makes dinner time a little awkward, lol)

walks around with a terry cloth towel against his head with an ice pack in

it, etc. I'm hoping that we can get him back on track very soon.

Any input or experience, no matter how strange would be appreciated.