To about HIDS & home from NIH

[Guest guest]

Hi , My son has HIDS. We just came from NIH. Dr Kastner

said there are roughly 200 cases worldwide and NIH is researching

10. Clay is one of them. Most of what you described could fit

Clay. He also has vomitting & diarrhea with each episode. He use to

fever almost everyday til he was put on pred. We are trying to find

alternatives since pred should not be used for long term. As soon as

he went off Naprosyen(sp) and pred fevering started again almost

daily. While we were there we met Dr Simon which is a rock star

in the HIDS communtiy. She has done some amazing research with

HIDS. I look forward to working with her in the future. Clay is in

the middle of severity. For most cases Enbrel has worked well for

them. We are going to try another route. We will let everyone know

how that goes.

Fran is amazing. Joe is a cutie pie, so smart. I hope all of you get

the chance to meet them. I enjoyed visiting with her.

Kathe is so strong and graceful. Issaac is a doll. It is amazing

how much our children and us all endure but yet we talk about the

illness like- " what is the best way to cook pasta? " We were all so

matter a fact. Fran is a wealth of knowledge. I feel lucky to have

met them.

, my son never had a LP to rule on HIDS. He was genetically

tested and had urine test. HIDS has a melovate kinase deficiency.

Clays mutation are H380R and V203A. Dr DeGuzman used GeneDX center

for the DNA test and a lab out of Oregon for the melovate testing

(urine). Any question, I don't mind answering. I could write a book

of the adventure (as most of us could) but if there is something I

could help narrow down let me know.

Tammy, mother of Clay 4 HIDS

[Guest Anne]

Hi Tammy, I hope clay is keeping well. My son also has HIDS and with only 4 recorded cases in the U.K,(and only 2 in Scotland where I live) his consultant knows very little about his condition. Can you tell me who NIH are, I am interested in the research they are doing. I have also found very little information on the Internet, have you managed to find any useful information?

Ben has been ill since birth and it has taken me 6 years of fighting with GP,s to get him diagnosed. with treatment just starting a few months ago I am keen to get as much information as I can.

Anne