To start with, we'd like to thank everyone for your support during our struggle....
You see Dani has a very rare genetic disorder call Hurler's Syndrome or MPS I. Its part of a group of storage disorders called Lysosomal Storage Disorders.
Her particular illness stems from her genetic code that is missing a necessary enzyme that breaks down materials in the cells of her brain, heart, liver, skeleton, etc. Its a degenerative illness that over time and left untreated can claim a life typically by ages 5-12. The materials that are broken down collect in the brain and cause eventual mental retardation, in the eyes causing blindness, deafness, cardiomyopathy, liver failure, carpal tunnel syndrome, scoliosis, joint stiffness, and dysmorphic facial features.
There is a treatment called Enzyme Replacement Therapy that is available to her which will improve her cardiomyopathy and enlarged liver, but it does not break the blood/brain barrier so her mental condition will continue to degenerate over time with the eventualities mentioned above.
However with Bone Marrow or Stem Cell treatments there is success in Hurler's patients with relation to the mental capacities on top of all the benefits of ERT. Although this is a risky procedure it can not only prolong her life, oldest living is early 20's, it can help her grow and mature to the point that she can function in society, which includes her two young brothers Gabe and Ethan, grandparents, aunts, uncles, cousins, etc.
Unfortunately, the insurance company has determined at this time that a bone marrow transplant is against THEIR policy. We are currently appealing their decision and hope to have further updates as soon as possible.