Many updates to share today – 3 weeks ago, Maggie got diagnosed with a very rare genetic condition called MPS-1 (mucopolysaccharidoses type 1). It’s also known as Hurler syndrome, and thankfully does not actually make children hurl. But it does cause a long list of other horrible symptoms and without treatment it’s fatal by age 10. It’s caused by a mutation (actually 2 mutations, since autosomal recessive) in a gene that codes for a certain enzyme that breaks down a large sugar/protein substance (glycosaminoglycans or “GAGs”, for you medical folk), which can accumulate and cause lots of problems if not broken down. I will spare you the details – the wikipedia article is not for the faint of heart.
There are a few treatments – most intuitively is IV enzyme replacement treatment, but that doesn’t get into the brain, so the babies with the severe form like Maggie still have progressive cognitive dysfunction. So, to prevent this, treatment takes a rather inelegant approach of wiping out her own stem cells and replacing them with stem cells that make the enzyme in need, which then travel to the brain and break down the “GAGs” and prevent the cognitive loss – this is otherwise known as a stem cell transplant. It is a terrible and risky procedure requiring 2 months in the hospital and many more months of isolation and precautions. It involves chemotherapy, lots of immunosupression, and then a usually anti-climatic infusion of new stem cells (from umbilical cord blood from an unrelated donor, in her case). It will be a hard year, and after that she will continue to have challenges of being post-transplant, plus the MPS complications of orthopedic issues are not adequated fixed with transplant. A long road, to say the least. But she remains cognitively intact currently and we are planning to keep her that way.
So she is getting admitted to Duke for a transplant in the next couple of weeks – date still TBD. In the meantime, we are enjoying our normal lives for a little while longer and looking forward to celebrating Maggie, our MPS warrior, on the other side of transplant. I promise to update the blog frequently to keep everyone updated – we are very fortunate to have so much support in all aspects of our lives and already are so thankful for all the help.