Life With My Angel

We are so very blessed that Hunter's Hope was able to let us use this wheelchair until hers comes in! It helps her sit up high and see everything! Now, we just have to find a different car b/c we can't get it into mine!

Krabbe and MLD are both caused by lack of an enzyme. Bone marrow transplants have been successful in stopping the progression of Krabbe and MLD, and there are also new therapies for delivering the enzyme to children with MLD, but they are only successful if they are done BEFORE ANY SYMPTOMS of the disease appear. Which means, the only children eligible for treatment are those who have had a sibling die from the disease, or who are lucky enough to live in a state with newborn screening for the disease.

Newborn screening varies from state to state. If a baby is born today with Krabbes in New York, he or she will have the option to have a bone marrow transplant, and instead of dying before his/her 2nd birthday, will most likely walk into kindergarten in a classroom for typically developing children. If that same baby is born in Arkansas instead, he or she will go home, and the parents will be told in a few months that their baby has a horrible disease, and they will have to watch him or her suffer and most likely die by the age of 14 months. It's not fair.

The incidence of these diseases individually is 1 in 100,000, but the incidence of lysosomal storage disease is 1 in 5,000. They aren't seen passed down in families, you don't even know you are a carrier until you have an affected child. In some cases, you may have several healthy children, and then a child who is affected, as there is only a 25% chance of passing it to your children if both parents are carriers.

With Eden, there is nothing we could have done differently. She had symptoms from the day I met her, and a bone marrow transplant would have killed her. But I know now that any other children God blesses me with in the future need to be tested for these diseases at birth, or however old they are when they are placed in my arms. While the infantile forms of these diseases are the worst and most urgent for immediate treatment, there are juvenile and even adult forms that don't show up until later in life. They are slower progressing, but still bad news.

Here are two sites with more information on newborn screening:

http://www.evanoskyfoundation.org/7083/index.html

www.huntershope.org

And here's a little more info on lysosomal storage diseases:

http://en.wikipedia.org/wiki/Lysosomal_storage_disease