IPEX syndrome a rare condition - WRCBtv.com | Chattanooga News, Weather & Sports

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IPEX syndrome a rare condition

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CHATTANOOGA, TN (WRCB) -

Beth Williams, BJ's Mom says, "He started having issues as young as two."

But doctors didn't know what was wrong with BJ. That lead to a lots of testing, doctors visits and frustration for more than 20 years.

BJ Williams, patient says, "I haven't been able to hold down a job, I have to do regular visits, and I get sick often."

Then, BJ's mom learned about a rare condition, one most doctors aren't familiar with. Fewer than 200 people worldwide have been diagnosed with IPEX syndrome.

Dr. Russell Walker with The Allergy Asthma Group says, "IPEX is an acronym for immune dystegulartion, polyendocrinopathy, enteropathy, X-linked syndrome, a genetic disorder carried on the mother's X chromosome."

Dr. Russell Walker has been seeing BJ since he was four. He says this all started with skin problems.

Dr.Russell Walker says, "Then he started having diarrhea, G.I. problems, and then later diabetes."

This disease affects the immune system of males early in their life. Multiple autoimmune disorders develop in the body. That means the immune system malfunctions and attacks the tissues and organs.

Medical experts say there are only 150 to 200 known cases of IPEX syndrome worldwide, and three of those cases including BJ were diagnosed right here in the Tennessee Valley.

Beth Williams says, "As a mom, as a parent we have a hard time watching him struggle through this we want to be able to see him go on with his life like all his friends his age."

But, BJ can't do that right now, and the only treatment is a bone marrow transplant.

Dr. Russell Walker says, "Life expectancy is not that good; the longest they've seen someone live with this disorder without a bone marrow is 31 years old."

BJ's siblings aren't a match, but he's hoping to soon find one, so he can live a normal life without having to worry about constantly being sick.

Cody Williams, BJ's brother, says, "The most important thing is getting a bone marrow transplant and first you have to find a match and that is the most important thing."

Once a match is found BJ will travel to Seattle for the transplant.

BJ Williams says, "I'm just anxious to get it over with."

Click here for more information on how you can donate bone marrow to help find a match.

A GoFundMe page has been set up to help with BJ's medical expenses. Click here to donate.

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