- Trichothiodystrophy
- Interviews
Michelle's interview
How did all start?
Started with flickering eyes and noticeable developmental delay
Do you already have a diagnosis? How long did it take you to get it?
Yes, diagnosis took just over 1year.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Neurology, optomology, dermatology, audiology, speech, language and physiotherapy.
All of the above have been crucial.
What has been the most useful thing for you so far?
Understanding and gaining information. Connecting with other families.
What have been your biggest difficulties?
Avoiding extreme sun. Learning skills that don't come naturally.
How has your social and family environment reacted? Have your social or family relationships changed?
Socially we are indoors more, go to indoor events or go out earlier or later in the day.
What things have you stopped doing?
Being outdoors for longer periods of time. Stopped going to hotter climates on holiday.
What do you think about the future?
Take each day as it comes.
So far, which years have been the best years in your life? What have you done during them?
Lots of fundraising and going to nursery. I've learned social skills, can sit on my own, bum shuffle and im learning how to stand.
What would you like to do if you didn’t have your condition?
I've never known anything different.
If you had to describe your life in a sentence, what would it be?
Happy, funny and full of music.
Finally, what advice would you give to a person in a similar situation?
Use plenty of sunscreen, get an app to track the uv levels. Talk to people. Be as happy as you can x
