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Hurler Syndrome

What is Hurler Syndrome?

Hurler Syndrome is a rare disorder characterized by the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase.

 

Hurler Syndrome is a rare disorder characterized by the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase.
Acknowledgement of Hurler Syndrome has not been added yet.
1.3http://www.orpha.net
Synonyms for Hurler Syndrome has not been added yet.
Cause of Hurler Syndrome has not been added yet.
There are several symptoms that affect people with Hurler Syndrome.
Name Description
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
Deafness Deafness
Joint disease Joint disease
Diagnosis is often made through clinical examination and urine tests.
Diagnostic tests of Hurler Syndrome has not been added yet
Enzyme replacement therapy helps the body make alpha-L-iduronidase. Bone Marrow Transplant
Prognosis of Hurler Syndrome has not been added yet.
Tips or Suggestions of Hurler Syndrome has not been added yet.
References of Hurler Syndrome has not been added yet.
Hi, Guys! I'm Sarah. Created by Leelismom2
Last updated 12 Apr 2016, 04:20 AM

Posted by marcusdad
12 Apr 2016, 04:20 AM

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.

Posted by Leelismom2
11 Apr 2016, 11:38 PM

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.

Length of life for these children Created by Fatemah
Last updated 10 Oct 2013, 08:19 AM

Posted by Nathansmom
10 Oct 2013, 08:19 AM

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.

Posted by marcusdad
4 Feb 2010, 07:26 AM

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.

Posted by tlwalker72
23 Jan 2010, 01:51 AM

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.

View Full Thread (9 more posts)
lalal8!!! Created by Fatemah
Last updated 9 Sep 2009, 02:47 AM

Posted by Fatemah
9 Sep 2009, 02:47 AM

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?

Ontario Canada? Created by Fatemah
Last updated 7 Sep 2009, 05:39 PM

Posted by Fatemah
7 Sep 2009, 05:39 PM

I was wondering if there was anyone on here who lives near us in London, Ontario (Canada)... I would love to meet up with other mothers if possible.... thankyou so much....

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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.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

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.

Visit sanfordresearch.org/CoRDS to enroll.

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I have a son with Hurler's ...
I am a grandmother of a 19 ...
I am a mother of a 14year o...
I have had Hurlers Syndrome...
My brother, 5 years younger...
i had niece and nephew who ...
My name is Cheryl and my gr...
Grandma to four, including ...
My son was 23 years old and...
I live in Hollister Calif. ...
My son Tyler was diagnosed ...
I am a Pediatric Case Manag...
I am the Grandma of an ador...
I am working as a social wo...
My God daughter died of Hur...
My son Bogdan (born in May,...
Hi my name is Amanda Marsh,...
Happily married to my husba...

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Hi, Guys! I'm Sarah.

Created by Leelismom2 | Last updated 12 Apr 2016, 04:20 AM

Length of life for these children

Created by Fatemah | Last updated 10 Oct 2013, 08:19 AM

lalal8!!!

Created by Fatemah | Last updated 9 Sep 2009, 02:47 AM

Ontario Canada?

Created by Fatemah | Last updated 7 Sep 2009, 05:39 PM


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