r/praderwilli

Hi everyone. I have a background in Clinical Genetics and Healthtech, and I’m trying to better understand what life after rare genetic disease diagnosis actually looks like for patients and families.

On a personal level, my godsister and a close friend both have children with rare genetic diseases, SMA and EB. They live in two different countries and have had very different experiences navigating care, support, funding, school/work adjustments, and all the practical things that come after diagnosis.

I’m hoping to speak with a few patients or family caregivers for a 30min call to learn from real lived experience, especially from people based in the UK and rest of Europe.

This isn’t a survey, app testing, sales pitch or clinical advice.

If you're open to chatting or would like more information, please fill in the form here or DM me.

As a thank you, I can offer a small digital voucher after the call.

Thank you ❤️

I have an adult cousin with PWS, her whole life she’s loved to swim. She’s not very good at it, due to her muscle weakness, but she still enjoys being in the water with a life vest. I was thinking about taking classes to learn how to kayak with a tandem, so that we could spend the day together on some very quiet, small lakes nearby to me.

I’m anticipating that she wouldn’t really move the kayak forward, that I would have to paddle for us both. I don’t think I would even give her a paddle, because I don’t think she could grip it for long - or if she does have one, it would be very lightweight with a way to rest it on the kayak when not in use.

I think this would be nice in some ways because I wouldn’t have to worry about her sneaking off to eat something if we’re in the middle of a lake. I hope she would also find it peaceful or fun and provide a means for good bonding time between us.

Has anything done this before with someone who has PWS? Do you think this is a poor idea for any reason?

Thank you!

Edit - Thank you so much everyone! I feel very encouraged by your comments, I’m excited to learn and get on the water with her :)