Hurler Syndrome is a rare disorder characterized by the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase.
|Facial Features||Thick, coarse facial features with low nasal bridge.|
|Halted growth||Halted growth|
|Claw hand||Claw hand|
|Abnormal bones in the spine||Abnormal bones in the spine|
|Cloudy corneas||Cloudy corneas|
|Progressive mental retardation||Progressive mental retardation|
|Joint disease||Joint disease|
Hi Sarah, I was moved my your post, but sorry I can't answer the question about parents leaving their children. A lot has changed in treatment for Hurlers and things have gotten better. My son Marcus is 23 years old now and was 18 months old when he was diagnosed in 1994 and had a bone marrow transplant. Since then his quality of life has improved but he still has come challenges. He is learning to live on his own, trying to get a job and attend classes. Its a struggle but he is a happy person.
I'm here trying to find information on this because my parents are both carriers. My sister, younger, is a carrier, I had four brothers born afflicted, and I'm not a carrier. I was born in '85, my parent's first baby without Hurler's. They raised my brothers, Michael and Nicholas, but left the two other boys at the hospital. It seems as though the life expectancy has greatly improved, Michael was 6 when he passed away, and Nicholas wasn't yet 2. Was it common for parents to leave their children? My parents won't talk about any of it anymore. I'm sure it's a painful topic. I just wish I could understand more, I guess.
My son is 17 years old and was just diagnosed with Hurler Syndrome 6 weeks ago. He is devastated as are we, his family. He has had multiple health problems since birth and despite all the doctor visits no one knew he had Hurlers. He was seen by a geneticist in Albuquerque in August and finally given a diagnosis.
Hello, I just discovered this site today. Just want to add our story. My son, Marcus, is 16 years old and is 15 years post BMT. He was diagnosed with Hurler's Syndrome back in 1994 when he was 16 months old. His website is www.caringbridge.org/visit/marcusespino. We have been through a lot over the years, but he is doing well, loves high school, texting and talking on his cell phone, hanging out with friends, going to football games, basketball games and the dances. He is a happy go lucky teenager we refer to him as our miracle child. He has had the double knee stapling, pins in both ankles, double hip surgery, both eyes corneal transplant, and most recently, open heart surgery to replace the aortic valve.
My son is 3 and a half and was diagnosed a little over 1 year ago with Hurler Syndrome. He has since had a stem cell transplant (9 mo ago) and is now making the enzyme on his own, but his body is still fighting the transplant (hemalytic anemia) You can follow his story @ www.caringbridge.org/visit/tylerwalker We pray everyday that he fully accepts the transplant until then we just take it one day at a time. Tyler vwasn't diagnosed until he was 2 and a half which is late, but at least he is now getting all the treatments to help him fight this. Please contact me if you want to share.
Hi there, My daughter Fatemah was born July 24th 2009... our children are close in age and although we are currently in the NICU in London ON, we are from Windsor ON.... if you are looking for support let me know inshaAllah ok?
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
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Created by RareshareTeam | Last updated 29 Jul 2018, 08:09 PM
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