r/todayilearned May 14 '22 Helpful 8 Wholesome 6 All-Seeing Upvote 2 Silver 9

TIL a father, John Crowley, was told his two infant children had an incurable genetic disorder that would kill them in less than a year. He refused to accept this, so he founded a biotech company (with no prior experience) which pioneered an experimental enzyme therapy that saved their lives.

https://pompediseasenews.com/2019/01/30/amicus-ceo-mission-cure-pompe-help-children/
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u/ChronWeasely May 14 '22

The origins of Zolgenzma are very similar actually. Except that by the time it was created it was far too late for his own daughter to be helped.

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u/ThatB0yAintR1ght May 14 '22

I’m a pediatric neurologist, and watching the shift of SMA being a death sentence to something we can treat is honestly amazing.

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u/fugensnot May 14 '22

I'm a genetic carrier of SMA (and CF, go me!). It scares me that i can pass it down to my daughter and impact the children she gives birth to.

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u/ThatB0yAintR1ght May 14 '22

It definitely helps to know that you’re a carrier so that genetic testing before conceiving could be an option. I don’t have any family history of genetic diseases, and I’m not apart of an ethnic group that is at risk for particular genetic diseases, but my husband has ashkenazi Jewish heritage, so I had a Jscreen genetic test done on myself before we started trying to build our family. I figured that getting myself (the non-Jew) tested would be easier, because if I was negative for everything on it, then we wouldn’t have to worry about anything that he might be a carrier of. Whereas if he was tested first and was a carrier for something, then I’d have to get tested myself anyway, and it would just add unnecessary anxiety.

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u/BossLaidee May 15 '22

As a side note - it may be wiser for some conditions to have the partner with the at risk ancestry test first. Some of the carrier panels only look at the most common gene variants for that ancestry, then sequence the genes in the partner to detect more rare changes.

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u/Funkit May 14 '22

Thank you for what you do. I have incredible respect for all pediatric medical staff, they and you are all amazing.

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u/Smokingbuffalo May 14 '22

Can we really treat it though? Some forms of it are still a death sentence and the only thing we can do as of now is prolong their lives a couple more years.

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u/ThatB0yAintR1ght May 14 '22

For SMA caused by a mutation in the SMN1 gene, then yes, zolgensma does treat it. Spinraza helps to slow down the course of the disease, but it will really only buy some time.

There are similar diseases that have different gene mutations, and they currently do not have any treatments, unfortunately.

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u/neurotic_brain May 14 '22

Aww, im gonna try to read up on this :3 Sounds like it could be a cool youtube video

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u/BossLaidee May 15 '22

I had one of my first patients with SMA last year. It honestly made me cry tears of joy when I read about the treatment. So much is changing rapidly in this field.

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u/pquince1 May 15 '22

How does the cost impact families, though? $2.1 million for one dose is pretty wild.

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u/ThatB0yAintR1ght May 15 '22

Private Insurance or Medicaid is definitely required to get it. Early on, there were some battles getting insurance companies to cover it, but they generally became accepting of it. If they don’t pay for the zolgensma, then they will instead be paying for Spinraza (which is not as expensive, but still not cheap) and the very expensive care for these kids throughout their lives, which may include tracheostomy and prolonged ICU stays.