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The importance of newborn screening for SMA

Rory and Carolyn met in seminary, fell in love, and got married. They decided to hold off on starting their own family while they settled into their first jobs in North Dakota. After a few years, they moved to Minnesota, where Rory accepted a job as a minister, and Carolyn enrolled in a hospital chaplain residency program. At the time, they did not know how important the decision to move would be for their future family. When they moved, neither North Dakota nor Minnesota had SMA on their newborn screening panel. It wasn’t until March 2018 that Minnesota adopted and implemented newborn screening for SMA, and then several months later, in 2018, Rory and Carolyn’s only son Edan was born.


This topic has 13 replies, 4 voices, and was last updated 3 weeks, 1 day ago by Kip Troendle.

  • Author
    Posts
    • #24440
      DeAnn R
      Keymaster

      Many, including myself, are anxiously awaiting the approval of risdiplam by the FDA. My guess is the announcement will come sometime near Labor Day. Maybe sooner? Although it’s not available yet, I know many are getting it through the EAP. If you are we’d love to hear from you! What was the process like? Are the results what you expected? Any side effects? Give us the scoop!

    • #24464
      Kip Troendle
      Participant

      I was just approved and will be receiving my risdiplam 08/11.  I can maybe leave my progress here?

    • #24469
      DeAnn R
      Keymaster

      Exciting! What did it take to get approved?

    • #24470
      Alyssa Silva
      Keymaster

      How exciting Kip! Looking forward to hearing about your progress.

    • #24473
      Kip Troendle
      Participant

      My doctor contacted me with the invitation to see her at the University of Iowa, where I then went through minor testing (blood, EKG, urine sample, etc.).  After my test results were reviewed, I was contacted by Accredo Pharmacy.  They thoroughly went through side effects and my instructions from taking risdiplam, to storing the medicine, to returning the emptied bottles.  I weigh 96 lbs. and will be taking 5 mg. daily in liquid format.

    • #24474
      Robert Stump
      Participant

      I have been fighting with my neurologist at OSU since March to try to get me on it, but it’s like pulling teeth with him.  First of all he had never heard of the EAP, and even after I explained what it was and gave him the contact another few months went by and he then claimed that it is a much lengthier process to be approved than expected.  So, I called the contact information myself on the EAP website, and they assured me that if the doctor gives them what they need, it only takes 2 weeks after that for the doctor to receive the medication for me.  So I got back with him and explained that this is ridiculous to have waited so long and have gotten absolutely nowhere, and now he is just ignoring me.  I would go to the effort of trying to change doctors, but with Risdiplam’s imminent approval it doesn’t seem worth it.  I just hope he doesn’t try to delay me actually getting on this stuff AFTER the FDA signs off on it!  Shhh…

      And, I don’t care about naming names, my doctor is Bakri H Elsheikh, MD.  Does anyone else have any knowledge or contact with him that is a different experience than me?  I just started going to him about 3 years ago after not stepping foot in an MD clinic for over 25 years, and that is who I was assigned to after Children’s Hospital in Columbus told me I was too old 🙂  I actually have not been impressed with him for any stint of these 3 years, but I did not expect him to purposefully deny me treatment.

    • #24564
      Kip Troendle
      Participant

      I started my Risdiplam 08/13.  The taste is very easy to tolerate.  The first 3 days, my stomach became slightly nauseous when eating food.  No diarrhea, just soft BM.  I had a very minor headache and I seemed a bit agitated.  That might have been from being nervous about taking the new medicine.  One other thing… I enjoy sitting in the sun about 15-20 minutes each day.  On my 2nd day of medicine, one side of my face got sun burnt and very hot feeling and puffed up, which I know the medicine contributed to.  It’s feeling better this morning.  So, I honestly believe I can tolerate this medicine and I’ll be able to continue.

    • #24568
      Alyssa Silva
      Keymaster

      Thanks for sharing that with us Kip. So happy to see you started! Just out of curiosity, why do you think Evrysdi interfered with your sunburn? Is exposure to the sun a side effect?

    • #24577
      Kip Troendle
      Participant

      I didn’t read sun exposure being a problem.  I notified my doctor about it, though.  I’m staying out of the sun until I’m completely “normal”.  Then I’ll give it another try with a little sun.

    • #24578
      DeAnn R
      Keymaster

      Thanks for the update Kip. It’s nice to hear from actual people, not just study data. I felt like after Spinraza I was more sensitive to sun than usual. Last summer I actually blistered and that’s unusual for me. Not sure if it’s listed as a side effect or not. Keep us posted!

    • #24720
      Kip Troendle
      Participant

      Update time!  I’ve been taking Risdiplam (Evrysdi) now for 21 days.  Are you sitting down?  LOL!  I’m noticing a change!!!  It started about 10 days after the first dose, mom brought my supper into my room and she went back to the kitchen to make her plate.  It took her longer than normal, but by the time she arrived back with her plate, I was 80% done with my supper and still going at it with full force.  Mom looked at me with large eyes and said, “Hungy, huh?”.  We didn’t say anymore, but every night since, it’s been the same.  Normally, I get 50% done and request mom’s help in finishing.

      My arms feel slightly stronger (very slightly), but just as importantly, I am less fatigued during the end of the day.  I am able to lift my 8 oz. paper cup of coffee in the morning (Yahoo!!) without needing help.  Granted my cup is 3/4 full, but I feel so grateful not needing help.

      Talking longer without my neck muscles getting tired, is also worth reporting!  Riding in my modified van and being able to take corners without my head flopping over, is another observation.  My lungs have less ‘junk’ in the mornings, indicating better lung/diaphragm movement during sleep?  I’m still doing OT twice a week, and my therapist noticed we are making minor advances!  Can this all REALLY be happening??  It is!

      I am nauseous only a tiny bit, but I do get some diarrhea on the days I sit on the commode.  I’m hoping that gets better.

      When I started taking this medicine, I honestly wasn’t very optimistic.  If it kept me stable, I would have considered that a victory.  My parents and doctor were so excited to get me on this, I just had to try it.  What a surprise I was gifted!  I see my doctor next week, at which time I’ll share with her my observations as well.  🙂

    • #24721
      DeAnn R
      Keymaster

      Thanks for the update Kip! I love hearing about the little (but huge) victories. The digestive issues make me hesitant about switching, but glad to hear they haven’t been too severe. I gained weight on Spinraza, so be careful with the extra intake. Just keep it healthy I guess. Any cravings for protein? That was a big thing I heard when Spinraza came out.

    • #24722
      Alyssa Silva
      Keymaster

      Kip, that’s so great!! I can’t remember if you have already told us, but were you on Spinraza prior to this? Also what type of SMA do you have, if you don’t mind me asking?

    • #24725
      Kip Troendle
      Participant

      I have Type 2.  I was not on Spinraza before; or ever.  My appetite is better, at times.  Then other times, I don’t feel like eating as much.  I have been taking Miralax now for many years.  I’m going to start backing off on my dosage.

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