My 12-year-old daughter was diagnosed with Fabry disease in spring 2019. Because she’s relatively new to having Fabry, I thought it’d be interesting to collect her thoughts on life with a rare disease.
Me: What were your thoughts upon receiving your Fabry diagnosis?
Daughter: I was not surprised because you had been diagnosed years ago. I was a little scared of some unknowns and not knowing all the details surrounding the disease. It made me feel a little special with the attention and the many doctor appointments, but at the same time it can be annoying and overwhelming. It’s a little scary knowing that there is something wrong with my body.
M: Do you have any thoughts on the treatment?
D: I’m scared of needles so that makes me unsure about starting treatments but maybe I would get used to the needles with needing infusions every other week. I would possibly miss school, which is good and bad. I would be glad to not need to go to school but I don’t want to get behind in my work. I could watch TV during treatment so that would be nice, and I could see Miss Melissa — [the medical assistant at the office where infusions are administered].
M: Do you have any peers with Fabry disease?
D: I have a cousin with Fabry who is being treated for it. It was nice to meet others my age at Fabry Camp last year who also have the disease.
M: What was your camp experience like?
D: It gave me a better understanding of how the disease works and what is happening inside my body. I loved meeting others my age who have Fabry and the feeling of community with others who share the same experience with the disease. It helped me to see that even though I don’t want to start treatment, there are others my age receiving treatment so it makes it not so scary.
M: How do you think treatment would affect your life?
D: It would probably be good. My doctors say my organs are healthy; getting treatment would hopefully keep it that way. Also, maybe I would get over my fear of needles.
M: Do you have any strong dislikes or frustrations with having this disease?
D: I’m not mad or frustrated with having Fabry but I don’t like getting pains in my feet with heat and exercise. I mostly just take it as it comes.
M: Have you found any positives to having Fabry?
D: I got to go to camp last year and have a fantastic time. I got to meet Ms. Melissa at the infusion office and play UNO with her. I am thankful for many family members who also have Fabry so I don’t feel so alone and also that there is treatment available. I’m also thankful for my mom, who knows what it’s like to have pains in her feet so she understands and can help me.
Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Fabry disease.
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