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How different generations living with SMA can teach one another

Meet Regina and Al. Their friendship and respect for one another all started at a fundraiser before a Phillies baseball game in 2019. “I watched Regina give a beautiful speech at the event about her recently diagnosed son, Shane,” recalled Al. “I thought to myself, ‘My friends at Cure SMA need to meet this amazing mom and get her involved.’”


This topic has 6 replies, 4 voices, and was last updated 11 months, 1 week ago by Michael Morale.

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    • #20451
      Pawel Rawicki
      Participant

      Hey everyone, I am more and more confused and misinformed but maybe here you can give good advice. So, the background story:
      I’m living in Poland (European Union). My son Alex was looking healthy for 3 weeks and then was getting weaker and weaker. Quickly diagnosed with SMA type I and he received 1st dose of Spinraza when he was 37 days old. At this moment he was 100% floppy, no strenght in arms or legs.
      Tomorrow he will be 10 weeks old and 3rd dose of spinraza happened just last week. We can see he regains some motor function but his breathing and swallowing is slightly getting worse.

      Getting to the point: everyone tells us to be grateful for Spinraza but we can’t stop thinking about Zolgensma. There are several reasons for that:
      – slightly better results (as far as I know)
      – one-dose treatment
      – no future problems lumbar punction
      – the stories of parents of young children show that maybe the results could be much better than on spinraza.

      Currently we’re getting spinraza for free (hurray for public health care!). Zolgensma could be approved in EU at the end of 2019 but the beaurocracy will take another months. At least. And still no one is sure how will national health care approach refunding two treatments of SMA. I know that 2,1mln $ is a lot of money but nothing is impossible if you fight for your kids.

      So, the questions:
      In this particular situation, would you advice to switch to Zolgensma? Maybe combining two treatments or in the future replacing spinraza with risdiplam? If yes, how much should we hurry if Alex is already getting Spinraza so he is stabilized?

      Please, share your thoughts. But please don’t write “get advice from your doctor” because doctors here know nothing about Zolgensma and US doctors I feel like they feel uncomfortable suggesting me expensive Zolgensma. So I’m getting no reliable information so far.

       

    • #20452
      Kevin Schaefer
      Keymaster

      Hey Pawel, this is a great question. Thanks for reaching out!

      As an adult with SMA, it’s difficult for me to give clear advice in this situation. Spinraza has worked well for me, and the reality is that Zolgensma probably won’t be available to people my age for quite some time. As such, this drug isn’t on my radar, and I’m content with Spinraza.

      In your case, I think your son would really benefit from Zolgensma. It’s yielded incredible results among infants, and it sounds like your son would be a great candidate for it. My thing would just be making sure that it would be paid for before you make the switch.

      And I totally understand not wanting advice from doctors who have a limited knowledge of SMA. Have you considered though reaching out to doctors in the U.S. who specialize in treating individuals with SMA? Cure SMA would have some good resources for you. Their website is http://www.curesma.org.

      Hope this helps!

    • #20453
      Michael Morale
      Keymaster

      Pawel – My name is Michael Morale, and I’m the Director of Multichannel Content for BioNews Services, the parent company of SMA News Today. I wanted to take a few minutes and try to possibly answer some of your questions and concerns. First, before I began, the ultimate decision to switch from Spinraza to Zolgensma, needs to be made between you and your child’s pediatric neurologist. I’m not sure what the medical situations are in Poland, given the fact that it is a public health care type system, but my recommendation would be the same as what Kevin told you in his response regarding trying to find a doctor that has some working knowledge of both Spinraza and Zolgensma.

      Zolgensma is only approved for infants and toddlers 2 years of age or younger, irregardless of the type of SMA that they have. Like Kevin, I too am on Spinraza. While I haven’t seen a great amount of muscle strength improvement in my arms, I do feel that Spinraza has halted the disease process, because I am not getting any worse. I’m now actively taking physical therapy and we are working on core strengthening exercises to improve not only my core strength, like my abdominal, back, shoulder and neck muscles, it’s also greatly improved my balance while sitting in my wheelchair. My breathing is exponentially better, but I’m not really sure if this is caused from Spinraza or my physical therapy.

      Regarding your son Alex, I understand that he just received his 3rd injection of Spinraza. You need to understand that each person is going to react differently to this treatment. Some infants and toddlers will show more improvement than others, while some, may not show as much improvement in the same amount of time. You had mentioned something about a combination therapy between Spinraza and Zolgensma, but scientists and researchers are finding that this really is not showing any beneficial effects. Zolgensma works by replacing the SMN1 gene, and Spinraza works by repairing the SMN2 gene. These are 2 totally different approaches, because Spinraza is a cellular-based therapy while Zolgensma is the first FDA approved gene therapy.

      Like Kevin stated in his follow-up to your question, Zolgensma is just now going into clinical trials for the intrathecal (IT) delivery for children and young adolescents, and depending how this clinical trial goes, they will start another clinical trial after that, and that will address the same issue regarding the IT delivery, but this will be for adults up to the age of 60 years old. All of this information regarding the last clinical trial is still tentative, because they will not know anything until the first IT clinical trial is completed.

      Your child is still in the age range to possibly qualify for Zolgensma, but based on your healthcare system in Poland, this would be something that you would have to check with the health ministry for your child’s pediatric neurologist. I have quite a few subscribers and followers to my personal YouTube channel who live outside of the US, and I think a few of them even live in Poland. Each country bases their decisions on different criteria, so the only thing that we are allowed to tell you would be to please consult with your child’s pediatric neurologist and see if you can maybe find another doctor that has a better working knowledge of what SMA is and the treatments that are available.

      Please do not quit the Spinraza treatments based on the fact that you would like to get your son on Zolgensma. Just because your son hasn’t seen too many benefits regarding Spinraza at the current time, like I said earlier, it may take a while for his body to start reacting to it. I would keep him on Spinraza as long as possible, until you are assured that he would be able to get Zolgensma. Alex, you and your family are in my prayers. Please keep us informed and let us know if we can help out in any other way.

    • #20455
      DeAnn R
      Keymaster

      I don’t envy needing to make such a difficult decisions. Trust whatever decisions you make will be the right ones as you have the best interest of your son at heart. Completely my opinion (as an adult with SMA), so feel free to take it or leave it. I would certainly keep my baby on Spinraza while still pushing for Zolgensma. Currently in the US Zolgensma is only available for infants & toddlers under 2. As far as I know there are certain tests for antibodies that need to be done as well as a steroid regimen as well. I’m not sure if your country would follow the same guidelines for Zolgensma or how quickly it would be available, but since it targets the root cause I would probably choose Zolgensma if given the option. I’m looking forward to Risdiplam as repeated lumbar punctures are rather difficult. As far as a combination treatment I have heard of families doing it, but I haven’t heard if it’s been beneficial.

      Hugs to you and your family!

    • #20457
      Pawel Rawicki
      Participant

      Thanks a lot for all your input!
      One thing to clarify: there is no chance we stop spinraza unless we decide to switch to Zolgensma and at some point in the future (years in the future) a neurologist will be certain that Alex can stop taking Spinraza. We’re thinking about Zolgensma but maybe the word “switching” was bad choice. It is more about adding Zolgensma.

      There is very little data but to be honest, some of the great stories of children taking spinraza for several years are not really encouraging…

      Our main concern is breathing and swallowing and we know from parents of children on Spinraza (in Europe) that for many of them it is still a problem even after great progress of motor functions. I am aware that real progress comes after 6 doses but I have to decide about Zolgensma earlier than that.

      So, currently we are in the process of making translation of medical documents of Alex. It is great idea to reach out to cureSMA and I think that will be our next move.

      Btw, feel free to join Alex’s support group here (always includes English):
      https://www.facebook.com/groups/westandwithalex/

    • #20475
      Michael Morale
      Keymaster

      Pawel – Cure SMA might be a good place to start, but you will want to make sure that you let them know that you live in Poland. They may be able to direct you on who you should speak to.

      I hope that everything works out for you, and please keep us updated.

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