Annika and Diego's Gaucher Disease

In January of 2015, it was discovered that Annika's spleen was enlarged.  Over a years time there were multiple scans and blood tests done to determine why this was happening, as well as a reason for her having low platelet counts and anemia.  All tests were inconclusive. In January of 2016, the last resort was a bone marrow biopsy, where it was revealed that Annika has Gaucher (pronuounced Go-Shay) disesase, a rare genetic disease.  

At the beginning of this year, we had never heard of Gaucher Disease, until three year old Annika was diagnosed with Gaucher Disease Type 1.  This is a disease where fatty substances (sphingolipids) accumulate in bone marrow and certain organs.  If not treated it can cause intense pain and even cause bones to fracture.  While the disease is treatable, there is no cure.  

The past months since the diagnosis have been a whirlwind of uncertainty, but we are feeling much better now that there is a plan for treatment.  Being that this disease is rare, it is extremely expensive to treat.
Luckily, we have gained assistance paying for the treatment itself from Genzyme (the company that makes the enzyme) but they will not cover the costs of all other doctor/specialist visits, copayment, labs, scans, MRIs, X-rays, etc.

Annika is one of 13 known cases in the state of New Mexico, and she is also the youngest.  She is going to have to endure a lifetime of biweekly treatments, where she will be hooked up for a few hours to receive enzyme infusions through a port that was sugically installed in her chest.

Being that this disease is passed genetically, it was recommended that we test our other two children.  The results came back, 4 year old Sienna was negative but it was discovered that 9 year old Diego also has the disease.  Diego had the surgery for the placement of a port-cath in his chest and began treatment for the disease in May of 2016.  
 
The Garay family would like to ask for your assistance in setting aside some funds to help cover these additional costs.  We are also pledging to donate 20% of all donations to the National Gaucher Foundation, an organization dedicated to the cause, treatment, and a search for a cure.  We have been in contact with the foundation since diagnosis where they are providing us assitance from a Gaucher specialist, as well as providing us a mentor as an opportunity to share experiences, stories, and resources related to the disease.

Thank you all for your time, thoughts, and prayers for Diego, Annika, and our family.

For more information about the National Gaucher Foundation please visit www. gaucherdisease.org