Family Loses 3 Children Due To A Rare Genetic Disease February 26, 2008
Posted by healthandsurvival in Children's Health, Diseases, Society, Survival, Wellness, medicine.Tags: ACD, alveolar capillary dysplasia, children, disease, family, health, Life, medicine, news, Wellness
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This story was sent to me by a Blog Reader, Mr. Todd Barrish. Thanks Todd for the story! Hopefully we can raise awareness about this tragic disease. It may actually be more common that we think!
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Their story was recently a featured on the front page of the Philadelphia Inquirer titled, “Unspeakable loss, genetic puzzle” and can be found here – http://www.philly.com/philly/news/breaking/15700892.html.
To give you a quick snapshot of the story, in September 2007 Lincoln B. Snyder (son of Craig Snyder and NiCole Robinson Snyder), died at 6 weeks old from the disease called Alveolar Capillary Dysplasia (ACD).
Lincoln is actually the 3rd child that Craig has lost to ACD. When Craig and his first wife lost Rebecca, their first child, they were told that ACD was a ‘mutation’ and they were safe to have a second child. And when Jonathan, their 2nd baby, died from ACD, the geneticists again offered their best theory: ACD must be a recessive condition, so both parents must carry the gene(s).
ACD has only been known to be very rare — with scarcely more than 114 cases documented in medical history — so, the thought that it could ever happen to Craig with someone else was completely out of the question. In fact, Craig and NiCole had one healthy daughter together name Shirley, which seemed to confirm this.
Then came Lincoln . Since Lincoln had ACD, his death has changed what scientists thought they knew about this disease. It now appears that ACD is caused by a dominant gene which only has to be carried by one parent. Therefore, many more children may be dying from it and we just don’t know it. The only way to diagnose ACD is to put lung tissue under a microscope. Since no autopsy is performed on most infants who die, many cases are certainly being misdiagnosed.
Craig and NiCole are now committed to unlocking part of the mystery of ACD and to finding the gene(s) that cause it. They have set up a Foundation with the potential to save other children, and all who love them, from the terrible suffering of this unspeakable disease.
I thought you may be interested in exploring this further, maybe taking a look at their plight. You can check out more info on this at www.3angelsfund.org.
I also lost a daughter to this terrible disease at 12 days old!!! Maison Caylee Bowman passed away on July 18, 2004 and at that time no one even knew what it was. Just read the story in People’s
Mag Issue July 21, 2008, in ref. to Nicole Robinson’s son Lincoln. Please would you respond as I would greatly apppreciate anything
you can send me or any words of encouragement and help me understand this much unheard of disease. Thank you in advance for any help that you can give me. Sincerely, Nichole Bowman