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Stockbridge family aims to educate on rare disease

 

By Monroe Roark
Special to The Times 

   A Stockbridge family traveled to the nation’s capital this week to increase awareness regarding a little-known but very debilitating disease.

L to r: Joe and Josh Eddings stand behind their parents, Joe and Vaspar. The boys have a rare disorder that affects approximately 500 children and young adults nationwide.  Photo by Monroe Roark

  Their struggle began when Vaspar Eddings noticed that her baby son Joe, now 24 years old, could not keep down his mother’s milk or anything else, even water.  An elasticity test showed severe dehydration and his potassium registered at “cardiac arrest level,” she said.

  Doctors first assumed Joe was diabetic, citing glucose in his urine, but blood tests did not support that theory. Finally a doctor suggested a test for cystinosis, which his mother had never heard of. A tiny piece of Joe’s skin was tested, and it was confirmed.

  A rare metabolic disease that afflicts about 500 children and young adults in the United States and around 2,000 worldwide, cystinosis can be treated but there is no cure. It causes the amino acid cysteine to accumulate and crystallize in the body’s cells, causing organ damage. Kidney failure is a common side effect.

  Vaspar Eddings and her husband Joe began treating little Joe by placing an awful-smelling liquid in his milk every four hours. Meanwhile, she became pregnant and was told she should have an amniocentesis to determine if her unborn child was also afflicted with cystinosis. She declined the procedure because of its own inherent risks, and when Josh was born in early 1991 a portion of the placenta was shipped to California, the only place it could be tested at the time. The test was positive.

  Because cystinosis is so rare, there is no common test to determine if prospective parents might be carriers, unlike sickle cell and other diseases. Vaspar and Joe learned after their sons were born that both of them were carriers of the cystinotic gene.

  “My mom had six kids in all,” said Vaspar Eddings, noting that she is one of four girls. “There were two boys, and both of them died. At the time we didn’t know, but now I think it could have been this [cystinosis].”

  It has been a long and difficult road for young Joe and Josh. Their disease has affected their height, which is noticeable especially when standing next to their six-foot-five father.

  “Kidney disease always affects height, especially if you have it as an infant,” said Vaspar Eddings.

  Both of the boys began walking later than usual, mainly because they developed rickets, a vitamin D deficiency that is a common side effect of cystinosis. For Josh it was more severe, leading eventually to surgery for the implementation of screws in his hip. He wore braces for quite some time and spent part of his middle school years in a wheelchair.

  The family has lived in northern Henry County virtually all of the boys’ lives. Both of them attended Austin Road Middle and Stockbridge High.

  Josh received a kidney transplant in 2004 while in middle school. At the time he was using a wheelchair because “his bones hurt too much to walk,” according to his mother.

  He was actually at “kidney camp” in rural Georgia when the family received word that a matching kidney had been found, and he was rushed to the hospital for the procedure. Joe received a transplanted kidney exactly one year later, also during camp week.

While these procedures help improve quality of life, they are not a cure for cystinosis. Josh’s new kidney gave out after five years and he is now on dialysis, although he is able to do it at home.

  As one might imagine, there are many medications that are required to treat Joe and Josh, and they will be using them for the rest of their lives.

  The trip to Washington is for the Eddings family, along with others from across the country, to meet with members of Congress and let them know the impact that cystinosis has had on their daily lives. Their lobbying efforts could lead to governmental action that would ease that burden a bit.

  Cystagon is perhaps the primary drug used specifically to treat cystinosis, and it must be taken every six hours. Raptor Pharmaceuticals is working with the Food and Drug Administration to get approval of an updated version that can be taken every 12 hours, which would mean a huge positive step in quality of life for patients. It is hoped that this approval could come in April of this year.

  The Eddings family knows only one other family in Georgia affected by cystinosis. The rarity of the disease is compounded by the fact that it is so often misdiagnosed, and getting the word out in Washington and elsewhere could help others get a correct diagnosis sooner, Vaspar Eddings said.

  As for Joe and Josh, they are looking forward to moving on and leading productive adult lives. Joe is getting ready to start barber school at Atlanta Area Tech, while Josh has already participated in computer information specialist and certified nursing assistant programs at ITT.

  For more information on cystinosis, visit www.cystinosisresearch.org.

 

 

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