A friend, sadly no longer with us, had this experience with his beautiful daughter Tilly & #SCN8A. He eventually found other parents around the world & set up https://www.scn8a.co.uk/what-is-scn8a. It’s a different genetic syndrome but maybe reaching out could help your friend. It meant the world to Ben.
I don't want to derail this or infer equivalence but the NHS's reaction isn't a surprise to anyone with Long COVID. You're on your own with Tired All The Time as the diagnosis.
I've worked with many children with challenges and the resilience of their parents astounds me.
...Richard that I have some (technical) experience in setting up discussion forums for special interest groups.
Some people prefer to use WhatsApp, Facebook, etc. But if he needs more functionality than they offer, please send him my way. I'd love to help if I can.
All of our children have ASC as well as some rare immune system challenges (& damage) that took years to diagnose. There are times when our marriage is pushed to breaking point. We try to remember we are not enemies & together we are stronger. Finding time as a couple was key to staying together.
Heartbreaking as it is,I was taken by Richards positivity. He also highlights that we can do better as a society in taking care of those that need it. We find money for all sorts of rubbish but not the important stuff.
My daughter has a rare genetic condition, when she was diagnosed 8 years ago there were only 41 documented cases, it's a very lonely world to navigate. Especially when it's just a string of numbers and letters, no medical professional has ever heard of it. I'm thankful to some of the people who have
Been in her life, in particular her Speech and language therapist, she was involved on and off from 18mo up in 19years, without the SALTs I really would have been on my own.
There are so many things that people just don't see, like having to be at Glenfield hospital at 8am on a weekday, when you don't drive and public transport takes 2+ hours but not possible at that time of day so you have to find someone to have the day off work to take you. I'd walk to the ends of
Beautiful, sad and accurate. When I had Long Covid, friends simply melted away after a few months. I don't know them but I wish them all the very best.
We found out our teen daughter has a congenital whole body condition this year and it feels like the bottom has fallen out of our world, and everything you thought was real about the future isn't. I'd be happy to talk to your friend. It is indeed a lonely place.
For families of children with rare genetic conditions, genetic alliance https://geneticalliance.org.uk is a excellent place to start. It's an umbrella organisation that brings together over 200 charities working in this space.
I've been doing some work with childhood tumor trust (https://www.childhoodtumourtrust.org.uk) , which also is something that a lot of people are unaware of.
It may be worth Richard getting in touch with Rare Revolution. They promote awareness for rare diseases.
Much of this chimes with our experience of having a wonderful child with Down Syndrome (albeit much more common so more support and information out there) always happy to talk to families now we’re a few years down the journey
My youngest daughter was diagnosed with a mutation of the arid1b protein so I am not in exactly the same position as his family but similar. It’s so tough but has moments of love & happiness that other parents will never experience. My recommendation is fight & fight & get all the help you can.
A beautiful piece - thank you for sharing Richard's story. For families in a similar situation, the UNIQUE support group is a fantastic resource and publishes family friendly information for many rare chromosomal and single gene disorders, including GRIN2B: https://rarechromo.org/
As I tell our medical students, common things are common, but *rare* things are even more common (collectively, since there are so many of them). You're more likely to have a #rareDisease than any one of the vast majority of "common" diseases. Research, diagnostics, treatment & support are crucial.
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I don't want to derail this or infer equivalence but the NHS's reaction isn't a surprise to anyone with Long COVID. You're on your own with Tired All The Time as the diagnosis.
I've worked with many children with challenges and the resilience of their parents astounds me.
Please pass on to..
Some people prefer to use WhatsApp, Facebook, etc. But if he needs more functionality than they offer, please send him my way. I'd love to help if I can.
It may be worth Richard getting in touch with Rare Revolution. They promote awareness for rare diseases.