Hannah will be 8 months old soon, and we have been dealing with her medical issues since her second day of life. She was about 2 months old once we started dealing with specialists who tested her for everything under the son.
However, it wasn’t until we met with her first genetics doctor that we realized the possible gravity of her condition. He had mentioned taking a skin biopsy to test for lysosomal storage diseases, specifically Gaucher’s Disease and Niemann Pick type C. We didn’t think it was Gaucher’s Disease at first because one of her initial tests showed her only as a carrier and with a moderately low enzyme activity level (not severely low). We later learned this test was wrong.
However, since November 12th, the day of the skin biopsy, I have been researching and trying to find information on Hannah’s disease possibilities nonstop. Not a day had gone by where I didn’t spend most of the night looking up something. Google should have been my homepage! I will admit, there were days I became almost obsessive about trying to find something out there that would cure my daughter.
The most difficult part of all of this is that her disease, Gaucher’s Disease type 2 or type 3, is so incredibly rare. There are no mailing lists or community boards for this disease. I’ve only been able to find about a dozen families in the U.S. with children with this disease, of which only 5 children are still living with it. There is a research foundation for this disease, but it is so horribly difficult to get in contact with him — I have been trying for almost a month to see how active they really are!
It is a very lonely life, fighting a very rare disease like this.
So, I have resorted to creating my own support system. Not just with the handful of GD2 and GD3 families that I have been able to find, but with others as well from similar storage diseases. Even though the disease process may be completely different, the feelings and some of the symptoms are very similar. Since blogging about our fight, I have met so many wonderful and supportive people out there, most who have no experience with rare diseases, but have been there for me when I needed to share.
I’m not giving up though. Even though Hannah may have an incredibly rare disease, creating awareness for her disease and sharing her story is bringing so many wonderful people to our fight for her life.
Look at her face. She is worth every effort!
You can read more about our fight for Hannah’s life at LittleMissHannah.com (my nickname for her!)