This post is sponsored by the National Gaucher Foundation and originally appeared on the National Gaucher Foundation Community Blog.
The Garay family has three children: Diego, 9, Sienna, 5, and Annika, 3. Annika was diagnosed with Gaucher disease six months ago, and Diego was diagnosed shortly after that. Their mother, Ana, shares the impact this diagnosis has had on their family.
What were the events leading up to your children’s diagnosis?
In January of 2015, Annika (1 year old at the time) was at a doctor visit for something completely unrelated, and it was discovered that her 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 Disease Type 1. Since the disease is passed genetically, it was recommended that we test our other two children. The results came back, Sienna (5) was negative but it was discovered that Diego (9) also has the disease.
What has been the biggest challenge for your family since the diagnosis?
One of the biggest challenges has been the adjustment of our family’s lives to our children living with the disease. The drives back and forth to the hospital, the time spent for infusions, dealing with insurance, and trying to keep their spirits up and support them is slowly becoming the new normal. We want them to not feel different or limited because they are living with Gaucher Disease. Annika (now 3) is so young that she will never know any different, but having to explain to Diego that he was sick too was one of the hardest things we have ever had to do. Our hearts ache everyday for our kids, and what they have to endure.
Please describe your care team and the impact they have on your life?
Our children’s care team has been absolutely amazing. Dr. Shirley Abraham was our first hematologist. She was determined to find out what was going on with Annika. Once the bone marrow biopsy was done, she had Dr. Randell Heidenreich, geneticist at UNMH look at our case. He was the one that gave the GD diagnosis. His team was very insightful, answered every question we had and had such a positive outlook on treatment. We left his office confident that our daughter was going to get the best care. We had an insurance switch during this time frame, and we now see Dr. Jeffery Hanrahan, Oncology/Hematology. His team is wonderful. Dr. Hanrahan was very adamant about beginning treatment quickly. He made sure the children had all their labs, scans and cath-ports placed quickly. Our children have a good time during infusions, given the situation. He keeps us updated and in the loop with everything. The pediatric infusion center is a nice environment, they really do everything they can to make the kids comfortable and entertained. They have xboxes, toys, and movies that the kids can choose from.
What are some ways your family manages living with Gaucher disease?
We’re still adjusting to living with GD. It’s been a roller coaster of emotions. It’s only been about six months, and we’re still adjusting. We have Diego visiting with a child psychologist every few weeks to talk about what and how he is feeling. Sienna had a difficult time at first too, there was a lot of attention and focus on the other two when they were first diagnosed. We are doing everything we can to include her in all that is going on, so we also take her along with us to infusions so she can see what it’s all about. I think it has helped her understand…as much as a 5 year old can. We remind our children everyday, that this doesn’t change who they are, what they can do.
What would you tell someone who has just been diagnosed with Gaucher disease?
I think we would tell someone recently diagnosed that it’s going to be ok. It is a life changing diagnosis, so it’s ok to be mad, sad, angry, and every emotion in-between. Feeling all these emotions is totally normal, but things are going to get better. You will adjust, you’ve got to stay positive. You can manage this illness.
Anything else you would like to add?
Our lives are completely different than they were a year ago, when we had never even heard of Gaucher Disease. In fact, all the people we know had never heard of the disease as well. Since the diagnosis, we have done many things to help raise awareness as well as raise funds for the NGF. A couple months ago, we were able to meet some other Gaucher patients as well. There are not many in New Mexico where we live, and not any as young as our children. We are amazed to see how close and friendly the Gaucher community is, there are many amazing people with amazing stories. While I am sure we would all like to be in a different situation, it has been a great resource for information, advice, and conversation that will help us all to keep moving forward.