NGF Ambassador Ilaina Davidson has two young children with Gaucher disease. Rebecca (10) has been on ERT for 8 years and Abby (8) has been receiving treatment for 4 1/2 years.
She, and daughters Rebecca and Abby, share their experiences and perspectives with us in this month’s Ambassador Spotlight.
What were the events leading up to your diagnosis?
Ilaina:
My husband and I underwent genetic testing while we were trying to conceive and it was through that process that we were both identified as being Gaucher carriers. We did some preliminary research, but did not start in earnest until our first daughter’s diagnosis was confirmed. Each daughter was tested directly after birth in the hospital, so we were fortunate to know the diagnosis before they even came home from the hospital; this helped us to try to stay ahead of the disease progression. From there, we were connected with wonderful Gaucher specialists (first we were seeing Dr. William Wilcox, a geneticist who had been at Cedars Sinai Los Angeles; after Dr. Wilcox moved to Emory University, we have been very lucky to be followed by Dr. Derek Wong at UCLA). Both physicians and their respective teams expertly guided us in monitoring the girls and determined when they needed to begin ERT. Each girl had their own timing, with our older daughter starting at 2 years old and our younger starting at 3 years old.
What has been your biggest challenge living with Gaucher disease?
Rebecca:
The biggest challenges have been not being able to go to after school activities or hanging out with friends every other week when I get my treatment.
Abby:
I can’t do certain stuff I really want to do, like a back flip, and I don’t have a lot of time to play every other week.
Also, I have no idea how other people are going to react when they find out that I have Gaucher Disease.
Please describe your care team and the impact they have had on your life?
Rebecca and Abby:
Our care team includes our in-home infusion nurse, Gaucher specialist and his staff, the childlife specialists at the hospital, and the surgeons who put in our ports.
Rebecca:
They are really nice and really patient. They help me even when I’m upset because I don’t want to get my infusion.
Abby:
They are very nice and patient. They help me a lot. They give me medicine so I don’t die.
What is the benefit of having a Gaucher specialist on your care team?
Rebecca and Abby:
So that if I don’t understand something, they can explain it. Also, it helps to have someone who knows about Gaucher disease on our team because then I’m not the only one who knows about it.
What are some ways you are striving to maintain and achieve your optimal health?
Rebecca:
I eat lots of fruits and vegetables. I don’t play tackle sports. I try not to get hit with a ball. And I take my infusions.
Abby:
By not doing the things that I’m not supposed to do, like tackle football. And not getting hit by the ball. Also, taking my medicine and eating healthy food and getting exercise, like walking.
What is one thing you would tell someone who has just been diagnosed with Gaucher disease?
Rebecca and Abby:
It’s not as bad as it sounds. There are upsides, like the nurses and doctors are really nice. Don’t be afraid to tell your friends about it.
Ilaina:
For the newly diagnosed patients and/or parents/family members of someone newly diagnosed, I would encourage them to recognize any feelings that they may experience, because it can be very overwhelming and engender a range of strong feelings. I would then remind them that they are not alone and that there is an amazing community. So, I would strongly recommend that they reach out to others who have gone through this to learn as much as possible and know that they are part of a robust community of people who are thriving.
What does it mean to be an NGF Ambassador?
Rebecca:
To be strong about your disease. Don’t hide it. Being an Ambassador would let me be stronger about my disease because I could talk to people and try to help them and also get to meet other people who have Gaucher too and are doing ERT.
Ilaina:
Being an NGF Ambassador is a tremendous honor, as I have been gifted with the opportunities to talk with and learn from many kind parents and patients who have been on this journey. These experiences have helped me and my family in many ways–logistically with useful information, mentally with reminders to consider all options and have perspective, and emotionally with support and encouragement. So, being an NGF Ambassador means having the invaluable opportunity to try to continue that tradition of reaching out to others, offering information, sharing, listening, and being an active member of a wonderful community. As the NGF has given me and my family the vital gift of HOPE, I am honored to be a part of this organization.
