Article from University of Minnesota
Hurler Syndrome (also known as Mucopolysaccharidosis type 1H)
Affecting one in 100,000 people, Hurler syndrome is a rare genetic disorder where the enzyme (alpha-L-iduronidase), which normally breaks down the mucopolysaccharides dermatan and heparin sulphate, is missing. These mucopolysaccharides build up in all tissues in the body causing progressive deterioration and eventual death. The disease was first described in 1919 in Germany by Dr. Gertrud Hurler.
Hurler syndrome babies often develop normally during the first year, but as the storage material (mucopolysaccharides) start to build up, the symptoms begin to appear. Early symptoms include frequent colds and ear infections. Hurler children will, without therapy, experience profound mental retardation, coarse facial features and excessive hair growth, vision problems (due to clouded cornea), and severe heart problems (as the coronary arteries narrow and the heart valves thicken). Other symptoms may include carpal tunnel syndrome, curvature of the spine, frequent runny nose, hernias, and hearing loss. Most patients die between age five and ten years of age of heart failure.
Because Hurler syndrome is genetic, it is difficult to cure. Current approaches to Hurler syndrome include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children (Hurler can be detected with amniocentesis early in the second trimester). For Hurler syndrome patients, a variety of treatments have been tried. The goal of treatment is to get the missing enzyme into the body. While the enzyme is now FDA-approved and available, studies have shown this doesn’t move into the brain well enough to prevent the neurologic aspects of the disease.
To introduce alpha-L-iduronidase into the body, both gene therapy and blood, marrow or cord blood transplants are being explored. In gene therapy, researchers use a virus to place the gene that produces alpha-L-iduronindase into the patient’s cells. Transplants are performed to provide cells producing enzyme through the growth of normal, healthy blood cells. These blood cells appear to provide enzyme to other cells of the brain, preserving neurologic function. However, the enzyme does not appear to penetrate into the brain. Following successful transplant, patients do not suffer cardiac deterioration, and the accumulated mucopolysaccharides in the liver, lungs, and marrow slowly disappear. Vision and hearing generally improve post transplant, as well. Though the mental retardation does not progress, the patient’s IQ will typically stabilize. Thus the most successful transplants are those that are performed as soon as possible after diagnosis. Transplants performed after age two have disappointing results, because a BMT cannot repair the considerable amount of damage already done.
Because older patients and those with prior lung problems do particularly poorly with transplant, the use of enzyme therapy prior to transplantation may be advantageous. The University of Minnesota has pioneered a study to test the use of enzyme prior to transplant, which is currently enrolling patients.
About me: This page is dedicated to Brinley and to the fight for a cure for Hurler Syndrome.
For those having trouble opening the blogs please visit www.caringbridge.org/visit/brinleycraig or www.brinleycraig.blogspot.com
Who I'd like to meet: Brinley has an account at the Mainsource Bank in Madison, IN. You can also donate there. You have to mention Trampus or Amanda Craig and 'For the Benefit of Brinley'. Thank you again for donating!
I am so very sorry to hear about your loss. May God comfort you in your time of sorrow and know that he is in a better place. God bless you and your family
I am so so sorry for your loss I cant imagine the pain you are going through!! Words cant bring him back I just want you to know I have been reading every post, and I have cried and prayed for Brinley and your family!! God bless your strength and he will always be in your hearts and there with you all the time!! My thoughts and prayers are with you deeply!!!
I know sorry is not much at a time like this, but it's the only thing I know to say. I'm so sorry for your loss- I cannot imagine going through the loss of a child. My thoughts are with you all.
MY GRANDAUGHTER HAD A STEM CELL TRANSPLANT 4 HURLUR SHES DOING GREAT. ITS BEEN 10 MONTHS SINCE THAT HAPPENED N WE HAD TO PUT ALL OUR TRUST IN GOD. SHE HAS HER PAGE SO U COULD SEE HOW SHE IS DOING. ITS A BIG MOUNTAIN U HAVE TO CLIMB BUT WITH GODS HELP IT WILL MOVE. GOD BLESS BRINLY N HIS FAMILYY.
Hey Craig family! We have not forgotten about you. Several people have asked me about an address so they can send you cards and stuff. Calista misses Lily a lot. Call me or email me if you get time! Thinking about all of you!!!
HAPPY BIRTHDAY BABY BRINLEY!! It is really great to hear how good he is doing!! Hang in there Mandy B,all of you,the girls,and Trampus too,you can do this!!!
I am tryin to get a charity together in Texas to help yall out. I know this is tough and Ive never meet Brinley, But Mandy I've known you my whole life! I have put the word out To plenty of places and hope to hear back soon on how to get you guys the money or supplys you need, Everything I get will go to you. I'll keep you updated on Charity For Brinley Texas style! Love you guys and am gonna do the best i can to help!
