Meet Lucy Thompson! She has a rare condition called Zellweger Syndrome, but that doesn't stop her from being the bright, energetic girl she is! Today, I conducted an interview with Lucy's mother, Mrs. McManus, and we talked more about Lucy's condition and how it has impacted her family.
1. To start off, can you tell me a little bit about your child (her name, age, more about Zellweger Syndrome, etc)?
Lucy Thompson is one and a half years old and has a rare genetic disorder called Zellweger Syndrome, which is a degenerative disease that can affect many parts of the body but mainly the liver, kidneys, and heart and brain development. A lot of children die within their first year and some may live into early childhood and adulthood depending on how severe his or her condition is. As of now, there is no cure for Zellweger Syndrome and her life is limited due to this. We are lucky that Lucy is doing amazingly at the moment.
Lucy also has hypotonia, which is a mild permanent hearing loss, and she wears glasses to help her vision. Ever since I learned about Lucy's diagnosis, I promised to give Lucy the life she deserved and to enjoy every day I have with her. She is always smiling and has the most infectious laugh! She brightens up our darkest days and we just take it one day at a time!
2. What are some major challenges with having Zellweger Syndrome?
One of the major challenges is fearing the unknown. We will never know what the future holds for Lucy. I am terrified of what this disease will do to her body, and I hope some day there will be a cure.
3. How did you find out about Lucy diagnosis, and what was your reaction? Did the doctors who diagnose Lucy ever hear about Zellweger Syndrome before?
When we got Lucy’s diagnosis, my partner Kris and I were brought into a small room and we were told about Lucy's life limiting condition and that we should go home and enjoy our time with her. The tears streamed from my face, and I couldn’t stop crying. As first time parents, we were trying to cope with Lucy's diagnosis the best we could. Zellweger is so rare that the doctors and her pediatrician only went by what the Internet said. Now, we just take it one day at a time.
4. What is your Lucy's day to day life like and how has it been impacted by your child’s diagnosis (for example, therapy, medicine, etc)? We have appointments all the time whether it’s physio, check ups, or overnight hospital stays - it's just our new normal now. Fortunately, Lucy is currently not on many medications.
5. Are there any medical treatments Lucy follows?
Since there is no cure for Zellweger Syndrome, Lucy goes for overnight stays in the hospital every 3 to 4 months to check her blood sugars and to get bloodwork done.
6. Has Lucy's diagnosis affected the way she learns? Lucy is still very young so she is not in school yet. Since her overall development is delayed, it takes her longer to process things.
7. What would surprise people the most about Lucy? I think from hearing about Lucy’s diagnosis and the fact that she’s not walking or talking yet, people think she is worse than what she actually is. She has her own way of getting around and interacting with others, and it is just a little different from what other people may think!
8. What does Lucy like to do for fun?
Lucy loves music and is currently a big fan of baby shark! She also loves playing with anything that lights up and makes loud noises.
9. What is the most important thing for someone to understand about Lucy's condition? Don’t judge Lucy for her condition, and give her a chance to do things at her pace.
10. Has Lucy's diagnosis affected your job?
Absolutely. I used to be a hairdresser, but after having Lucy, I took an extra leave. When I found out about Lucy’s diagnosis, I made the decision to not go back and spend as much time as I could with my daughter. I am now Lucy’s caretaker and I enjoy every moment of it.
11. If you or Lucy could tell the world one thing, what would it be? This can happen to anyone. Everyone should educate themselves about their underlying genetics before having children. Also, it is so important to not compare your child to other children because no child is the same.