[krystal]

Thanks for your post. I think it’s a little outrageous that the comments on the petition came from people who did not appear to understand the difficulties, time, and money it took to make Spinraza approved in the US. However, there are parents that, when thrown into a stressful situation, may take something they first hear and run with it without knowing all of the facts. It is true that SMA is a degenerative disease, but it is not sudden and abrupt with Type II. I have read about many families who are acting like their child with SMA is on the verge of death in order to get signatures for approval or money. I understand that they are probably just concerned for their child, but I agree that there are other ways to go about this.

As a mother whose infant was recently diagnosed about one month ago, I certainly feel the concerns Zahra’s parents have, and there’s many parents who have a newly diagnosed baby that will hear words such as “Get Spinraza yesterday” and run with it, without taking a step back to learn about the disease, gather more information about alternative treatments, and then deciding the best option for their child. Don’t get me wrong–Spinraza is great, and we are fortunate to have it now, but I agree with DeAnn: Spinraza is not so life-changing that you can’t live without it. There are many people with SMA that have been around without any drug treatment and have lived/are living a fulfilling life.

I hope the parents know what Spinraza will do for their child, and that it is not a cure. As for me, I am doing everything I can to get my daughter into the AVXS-101 trial, but by no means do I believe it is going to get rid of SMA. There’s just not enough data to confirm this. Prior to ANY treatment, I had to do my research. I needed to better understand the disease my daughter has. I spoke with doctors, nurses, clinical coordinators, Google, library databases, Facebook groups, CureSMA, and more, and I discussed my findings with close friends and family. I think every parent should learn about their child’s disease so they can make informed decisions to better provide and care for them.

[krystal]

The shutdown may delay the enrollment date for AVXS-101 trials that are supposed to open in April. Reaching out to clinical coordinators to see if I can find a definitive answer. Thanks DeAnn for the updates!

[krystal]

Update: The geneticist called yesterday and said my son DOES NOT HAVE SMA. What was interesting to note is that my son actually has 3 copies of SMN1, 1 copy from me and 2 from my husband. The geneticist then explains that although my husband tested negative, the fact that our son has 3 SMN1 copies, confirm that my husband actually has 2 copies of SMN1 on one chromosome, and 0 copies on the other. This means my husband is actually a carrier.

Crazy genetics!

[krystal]

Hello, Todd. I’m sure I’ll have many questions for you regarding my daughter’s growth with SMA, as she is just a bit younger than your son and she also has Type 2. Welcome!

[krystal]

My daughter received her care package a day or two after Christmas, and while I was ecstatic by the happiness my daughter was showing as I pulled out the toys one by one from the box, I was crying tears of joy on the inside. My husband and I couldn’t believe the abundance of toys and what made it even better were the little notes sent by CureSMA that mentioned how this toy or that toy could be helpful for children with SMA. My daughter is 13 months old, and the care package included:

stack & count cups, a magnetic doodle pad, sketch pads, Twistables crayons, security blanket, hand-made quilt, medical fleece ease sheepskin, a white stuffed bear, ice gel teether keys, a snail balloon, soft stacking blocks that also came with soft balls, Sisu positioner pillow, toy mobile phone, an Octopus bath toy, a CureSMA mini flag, 2 CureSMA bracelets, wooden puzzle vehicle shape sorter (hope that makes sense!), Playfoam balls, a bubble wand, Walkie Chalk, Goodnight Moon mini board book, baby doll rattle, and more.

The toys range in age from 0 months to 3 years. So there are toys here that, once she gets older, she will be able to get her hands on. We are very thankful for the organization!!

Happy New Year!

[krystal]

Thank you so much for your response. I agree that clinical trials are just “chance” and they can be delayed and/or cancelled. This is part of the anxiety I feel when determining whether to start Spinraza or wait for a possible opportunity. At this point, we ARE in the process of getting Spinraza on board, so I feel like I’m doing something rather than sitting around twiddling my thumbs. My family and I are working hard on her physical therapy, seeking out further resources to keep her functioning optimally for the trial. I hope for the best.

Have a happy new year! And thank you, I am trying my best to enjoy my second pregnancy. 🙂

[krystal]

Happy Holidays, and thank you and everyone on this forum for the warm welcome. I look forward to getting to know everyone here.

[krystal]

Thanks for sharing this. My daughter is 13-months old and has type 2, but these tips/suggestions will also benefit her as well.

[krystal]

I lived a sheltered life as a child, and was very restricted when it came to watching TV. I did not get to watch a Charlie Brown Christmas, or Frosty the Snowman, or other Holiday movies/specials. Now that I have a daughter, I am EXCITED to watch all of the Disney movies, holiday movies, and more, as she grows up and gets older. I always enjoyed family movies when I got to watch them, so I’m sure it’ll be blast for me–I mean her–to watch the movies with me 🙂

[krystal]

My daughter loves to…flip the pages of the book over and over and over. She pays attention to our reading for about 30 seconds before wanting to flip the page. She babbles during story time. We try to read her a book every single day.

[krystal]

Thanks for the quick response, Kevin.

Currently, my daughter has a pediatrician, physical therapist, and neurologist (who is signing off and referring my daughter to another neurologist at the MDA center that specializes in SMA). Once we go to the MDA center, I’m sure we can discuss treatment options that will include Spinraza. We aren’t seeing a pulmonologist yet, although I’m sure someone will want to evaluate her baseline? Or will that only be the case if she shows any difficulties breathing?

And as far as I’m aware, our daughter does not aspirate her food or fluids, and enjoys drinking out of water bottles and regular cups. If she sees you eating something, she looks at you with a face that says, “…you gon give me some of that?” So although she eats small amounts, she eats frequently.

Thanks for your link, I will definitely get started on those now! I do feel better knowing that there are others with SMA 2 who have a strong quality life, and although it’s just a little different from someone like me, I feel happier and hopeful that my daughter will be able to live to the fullest.

[krystal]

I would love to go, but it just depends on a lot of things, such as finances and the health of my family. I was even considering going to the conference on my own, depending on the circumstances, to network and learn. Do you think I would still  benefit from going to the conference with just me and my daughter?

[krystal]

Good morning and happy new year Jenny!

Thank you so much for your input, as it provided great information to consider. Thank you also for noting that your progression was pretty much halted between 1-3. I understand everyone is different, but it is hopeful to learn more and more from other Type 2’s and their experiences. It gives me more of an incentive to ensure my daughter stays especially healthy during these next few months.

[krystal]

I am a first-time mother, and also pregnant with my second, so I definitely feel like I’ve been on a roller coaster of emotions, going from being positive to be a carrier, to having my husband be negative to be a carrier, to having a positive of having the disease in my daughter, and so much more. I feel like I’ve been through so much in a short time, but I feel very grateful for all of the available resources out there and the information I have gathered so far. It honestly has been a life changing experience, and I will continue to grow and love on my daughter while punching SMA in the face. SMA messed with the wrong mama.

[krystal]

Thanks for your response. I do think it’s crazy how things occur in this world, and am very glad that your son was able to get into the STRONG study that same day that you were about to get dosed with Spinraza.

It is a tough choice for sure. I know Spinraza works, but the mechanism of action is different for Spinraza vs AVXS-101. AVXS-101 is gene therapy, and I would much rather give her the missing SMN1 gene than slow down the progression of SMA with Spinraza. My husband and I did get the process started with Spinraza, since it takes a while, so we have a little bit of time before we make a final decision of what to go with. It’s been a struggle for me every day to figure out the best option for my daughter.

[krystal]

Yes, it is absolutely insane to find out my daughter had SMA, though to be honest, I had a gut feeling because she was definitely showing signs. I am glad for all the support here and the resources out there to help my daughter. I am pregnant again, yes, and just did an amniocentesis yesterday. It’ll take 2 weeks to find out if this baby boy will have the disease. If the results come back and the unborn child has SMA, thoughts have been to keep the baby anyway. I will definitely update everyone on results of the amnio.

[krystal]

Hi Halsey,

We are currently waiting for a pulmonologist to call us to schedule an appointment. I agree that we need to find out if she needs to get a sleepy study done, and to see how well she’s breathing. This particular pulmonologist has worked with SMA patients, so I am confident my daughter will be in good care.

And yes, my husband and I have to constantly remind ourselves that our daughter is just a baby and we need to make her exercises fun for her as well as for us. We want it to be a game for her, to play with her, and to have her enjoy her life to the fullest. Thank you for the warm welcome.

[krystal]

Thanks. I am starting the process for Spinraza, just in case we see a decline with her sooner rather than later. Since it’ll take about a month, I hope that my daughter’s function is maintained for these 3 months, and it’ll also give us about a month to decide if we want to go ahead and dose with Spinraza or wait for the gene therapy trial. I prefer the trial, but there’s so many ifs, ands, and buts. I’m reaching out to a research coordinator for the study to find out if there’s any way to get her screened earlier.

[krystal]

I wish I could switch over, but according to this clinical trial for Zolgensma, they want the infant to not be on drug therapy of any kind for 2 years. Here is the link to the clinical trial: https://clinicaltrials.gov/ct2/show/NCT03381729?cond=spinal+muscular+atrophy&cntry=US&age=0&rank=28

I am in the process to get Spinraza, since it’ll take hopefully a month or less for approval. That’ll give us some time to continue thinking about whether to wait for the study or to go ahead and give Spinraza. I would rather opt for gene therapy, but the wait will be about 3 months MAYBE, if everything goes well with the study. And on top of that, I need to make sure my daughter is eligible for the study. She appears to be, but not sure on her lab work that she will have to do. I am contacting the research coordinator to see if there’s any possible way to get screened sooner than March for the study. I will definitely keep everyone updated.

[krystal]

I am currently trying to start the process for Spinraza, since it’ll take about a month to get approved. However, the clinical trial is in April, which is only a little more than 3 months away. I am willing to wait 3 months for gene therapy vs Spinraza, but I want to get Spinraza approved and ready to go just in case she declines during this wait. I also don’t want to find out that we are not eligible for the study and then have to wait an additional month before drug treatment.

I am currently trying to get in contact with the research coordinator to see if there’s any possible way to get screened sooner than March for the study. I hope for the best!!!

[krystal]

Fortunately, the clinical trial I’m referring to is for Type 2, and that from the looks of the description, she currently meets requirements. I also spoke with a neurologist who says they can get my daughter into the study in April in the Dallas area if all goes well and she remains eligible.

Here is the link to the trial: https://clinicaltrials.gov/ct2/show/NCT03381729?cond=spinal+muscular+atrophy&cntry=US&age=0&rank=28

[krystal]

Here is the link to the clinical trial: https://clinicaltrials.gov/ct2/show/NCT03381729?cond=spinal+muscular+atrophy&cntry=US&age=0&rank=28

I have spoken with my daughter’s neurologist as well as some research coordinators from different sites regarding this study. This study is for patients with zero copies of SMN1 and 3 copies of SMN2, and after reading through the inclusion criteria and verifying with other research sites here in Dallas, Boson, Chicago, California, and more, they have told me that my daughter is congruent with the inclusion criteria. Unfortunately, enrollment period for this cohort is completed, and the next opening is HOPEFULLY April 2019, if all goes well after dosing the first 3 patients.

The only thing I am not sure of, is that during their screening, they need the patient to do a blood test for Anti-AAV9 to see if she is eligible. I notified the neurologist, who gave me a number to contact and see if independent testing can be ordered, so that I’m not wasting my time waiting for 4 months only to find out she has the antibodies to make her ineligible, when she could’ve had her first few doses of Spinraza by then.

The neurologist advised me, however, that if we treat her with Spinraza now, then my daughter will not be eligible for the Zolgensma trial, because another requirement is that the baby has not been treated with any drug therapy for 2 years.

So this is my current dilemma. I am scared to wait 4 months, but I would prefer to try the gene therapy first instead of Spinraza. At the same time, I don’t even know if she will remain eligible in 4 months, I don’t know if the trial will still be good to go by April, and I am afraid of seeing regression. I’m assuming the speed of regression is individualized?

I did reach out to the neurologist just now, who said she can start us on the process to get spinraza (since it takes a month), just in case we see regression before the 4 months.

[krystal]

Hi Ryan,

My husband and I are waiting for a call to schedule appointments to see a pulmonologist, cardiologist, and orthopedist. I was just telling my husband that we should probably get an otoscope to routinely check for ear infections, a pulse ox for night time and when she’s sick, and I already have a stethoscope and thermometer to ensure her lungs stay clear and monitor temp.

And thanks for mentioning the temporary need for tube feedings. It certainly is scary, even if it’s not permanent. Your post does help me feel easier about that possibility.

Thank you so much for the welcome!!

[krystal]

DeAnn, thanks for your post. I have also heard from my daughter’s neurologist that they are fitting patients for power wheels as early as 18 months, and they learned VERY quickly how to move around and absolutely loved it. For the near future, they plan on a manual wheelchair for her.

We had our first appointment with the neurologist that is an SMA expert and we are now awaiting calls to schedule appointsments for a swallow study, a pulmonologist, cardiologist (for a quick eval on if she has any arrythmias), and orthotics. The doc wants me to move from physical therapy once a week to twice a week, and to move from home therapy to outpatient once flu season is over next year. No need for OT at this time.

My husband and I are trying hard to balance the exercises we do with allowing her to be a baby and to just play. It is hard and frightening to potentially see a regression in her…

*Hugs* Thanks for the warm welcome.