Spinraza och Zolgensma – en kombinationsbehandling vid spinal muskel atrofi

Grace är 13 månader gammal och är ett av de sällsynta barnen som har fått både läkemedel Spinraza och Zolgensma. En kombinationsbehandling kan vara den hemliga nyckeln i behandlingen av SMA, som de flesta SMA-experter länge förutsagt skulle vara en viktig och goda strategi.

Grace gör här är ett mirakel – även med att ta emot behandling ”senare” än det bästa fallet inom några veckor från födseln.

Grace blir starkare, så stark att hon nu kan sitta upprätt och driva sin rullstol

Utan tidig behandling
Barn med SMA typ 1 i denna ålder kan inte sitta upprätt, behöver stöd vid andning. Du kommer aldrig någonsin att driva dig en rullstol – och många överlever inte så länge!

#Off Label Behandling vid SMA Zolgensma och Spinraza #Bumbo rullstol

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This is Grace. At four-months-old her family could see she and her twin sister were not meeting the same milestones. After Grace was diagnosed with SMA Type 1 they immediately sought out SMA specialists, traveling from Illinois to Wisconsin, and within a week Grace received her first dose of Spinraza, the first FDA-approved treatment for SMA. She has continued Spinraza treatments with four additional doses. Then at 10-months-old, with the help of an SMA specialist who advocated for compassionate use on her behalf, Grace received gene therapy, the one-time treatment we directly funded that is currently making its final steps through the FDA approval process. Grace is now 13-months-old and is the rare child to have received both Spinraza and Zolgensma – a combination therapy, which most SMA experts have long predicted would be an important strategy for many. What Grace is doing here is a miracle — (even with receiving treatment “later” than the best case scenario of within weeks of birth). Typically, without treatment, a child with SMA Type 1 at this age requires breathing and feeding support, is not able to sit up, and will never push themselves in a wheelchair — and many do not survive this long! There is still work to be done, specifically educating doctors at every level, getting all states/countries to implement newborn screening for earliest treatment interventions, and helping all families gain immediate access to treatment. But a child born today has a dramatically different future than previously when there was “no treatment” and “nothing you can do.” SMA is now a changed disease!!!✨And this was made possible because of so many parents and researchers who NEVER GIVE UP.✨ . #mynevergiveup #wedidthistogether #thisissma

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Until those day, was my kiss of death been stronger than those of the devil. I like to ride through hellfire with him ,when I come out victorious afterwards. I'm strong and proud rheumatoid arthritis warrior Följ mig, tack! Liz - Fotoblogg Spelblogg

2 reaktioner till “Spinraza och Zolgensma – en kombinationsbehandling vid spinal muskel atrofi”

  1. 💪👏👍 Great progress , awesome.

    I see the future secured for these patients. OffLabel was then as today the possibility to stop diseases.Best example is rheumatology, it is a role model. Many patients are treated with drugs that come from cancer medicine.

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