Rezultati pretraživanja
  1. 26. sij
  2. 17. sij

    This is probably one of the worst things about this horrible disorder. Johnny was so happy to talk to his nanny, his emotion caused a seizure, listening to him trying to laugh while the rest of him is paralysed is heart breaking 💔

  3. 15. sij

    Great article highlighting the work of one of my favorite scientists!

  4. 13. sij
  5. 16. pro 2019.
  6. 13. pro 2019.

    My family tried tried to help and support a little boy with a disorder we knew NOTHING about and fact of the matter is my family with the help of some amazing people had to raise £2000 to get my nephew tested in the USA which gave us a diagnosis of within 6 weeks.

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  7. 1. pro 2019.
  8. 2 hashbrowns for breakfast before we go see the Dr, someones excited... about the hashbrowns not the Dr 😂

  9. Literally he could not be happier 💙

  10. 14. lis 2019.

    I've been watching the show on (fascinating look at cases from the column written by ) and now I'm looking up abstracts on and other rare disease genes to be presented at ...

  11. 13. ruj 2019.

    : Journal of and Techniques : Primary and Metastatic Dissipate - Understanding and Intervention. : Divya Khaitan and Nagendra Ningaraj. Link:

  12. Here it is, midnight on a Wednesday night/Thursday morning, and I’m all up in my feelings watching on Netflix. Seeing these families with kids with mutations meet for the first time 💛 Hearing little Kamiyah say “he has them [paralysis episodes] too??” 💛😭

  13. 5. ruj 2019.

    Johnny is 1 of 37 known people WORLDWIDE to have the mutation, it has taken 2 long years to get these answers which we had to go USA to get. We are looking for anyone in the UK that may have the same thing. Please RT and help my family and this brave little boy.💙

  14. 2. ruj 2019.

    Get in touch with this parent if you know someone in the UK diagnosed with

  15. 23. kol 2019.

    Literally thought Johnny was the only person in the world, thank you and for opening up the KCNMA1 world to us. Get his results in 10 days after 2 years of tests

  16. 13. ruj 2018.
  17. 13. ruj 2018.

    A few weeks ago, Dr. Lisa Sanders shared information about a UDN participant in her column, Diagnosis. This week, she shares the genetic diagnosis: a single variant in the KCNMA1 gene. Full story:

  18. 16. svi 2017.
  19. Anyone else out there with a kiddo?

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