A Family’s Journey: Discovering Ectodermal Dysplasia Together
February is Ectodermal Dysplasia Awareness Month - Rachael Dyke
From never having heard of this rare condition, to a family of four members now diagnosed, and more on the pathway to diagnosis in just four years.
A Personal Revelation: Understanding My Health Through ED
For me knowing so many of my life long health issues could be attributed to Ectodermal Dysplasia (ED) has helped my mental health a lot. My physical health isn’t as good as I’d like right now, but I have good support in place. I have finally, at almost 40 years old, stopped berating myself for having weird teeth, thin hair and nails that never, ever grow.
Finding Hope:
For my children, we needed to have a diagnosis to access the right support. Alice is one of the 10% or so of people with short stature (dwarfism) as part of her ED, so we went a very roundabout way to her diagnosis.
Alfred hasn’t got the short stature, but he has had more respiratory issues than any seven year old should have to go through. If it hadn’t been for a lack of childcare, meaning he had to come to Alice’s genetics appointment with us, we wouldn’t have even tried for a diagnosis for him.
The other person photographed is my amazing Daddio. He has had little niggles, and some bigger issues, but nothing that anyone could define – then at almost 70 years old had it confirmed he likely has the same variant as myself, and The Mini Dykes.
We all have “Ectodermal Dysplasia – Type Unknown”. This unfortunately means some people don’t believe it is real. It simply means the genetic coding “defect” hasn’t been identified for our type yet. The symptoms and issues are VERY real.
The Power of Support: How Family, Friends, and Medical Teams Helped Us
We are ENORMOUSLY grateful to so many people for their help on our ED Journey. Firstly our families, friends, and the kids’ brilliant school, The Evelina Children’s Hospital and their Lead Consultants at DVH….. But a MASSIVE THANKS goes to The ED Society, without the support, kindness, hand-holding, and advice they give us, we wouldn’t be where we are now.
If anyone feels inclined to find out more, or to donate to their wonderful charity, please visit: https://edsociety.co.uk/what-is-ed/symptoms-of-ed/
