My daughter is 2.5yrs old and we aren’t planning to take her back to daycare anytime soon. As much as we enjoy her learning social skills from other kids her age, I don’t think it’s worth the risk right now.

My daughter dosed with commercial Zolgensma earlier this week. The process was simple for us, but I think it was due to the road that was paved from other families that fought hard for coverage.

OF course I read his books! 🙂 It has helped me feel better about my daughter’s future and to remember to laugh and just live life!

Thanks for your post! Perhaps I have a dark personality, but I thought your comment was funny so I didn’t think your humor was “dark” 🙂

 

I enjoyed this post. It gives me a lot of hope for my daughter in that there will definitely be things that she will be able to enjoy, “just like any other kid.”

I agree with this post. It’s hard. SMA sucks, despite the great treatments out there. No matter what, my child still has SMA, and will forever have it. We have been told over and over, “If you don’t use it, you lose it,” and I feel like this is correct even with treatment. Because of this phrase, it’s been hard trying to balance letting my… Read more

My Type 2 daughter is 19-months old. She is currently in diapers. She tells me almost every time whether she’s peed or pooped AFTER she’s done it. Her diaper is also dry after her daily nap and she doesn’t need a change at all throughout the night. I wanted to know when is the best time for potty training, and how your parents got you… Read more

How did you get aides for school? I would like to enroll my daughter into an early start program when she turns 3 (assuming that this is an option for her), and I wonder how to get an aide to help her with the physical disabilities. I have heard of some families having a hard time convincing the school that their child is not mentally disabled… Read more

Thanks for sharing this post. I am somewhat in this situation. My daughter is 19-months-old, with Type 2. My son is 7 weeks old, and fortunately, he is a non-carrier. We did not know my daughter had SMA until during my second pregnancy. I had always thought of having 4 children, but my husband wanted only 2. Before my daughter’s diagnosis, he… Read more

I definitely have questions about this. My husband and I plan to move to a bigger home in the near future, and will probably have questions about how to remodel the bathroom. I think ideas I’ve seen from other families that have been helpful are floating sinks and a roll-in shower. I’m assuming having a bath chair or some kind of seating area… Read more

I agree with you. Everyone, SMA or not, is different, and one diet may not work well for you even though it works well for someone else. Since my daughter is still very young, she is not on any special diet, but we are definitely trying to get her to eat high-calorie foods because she’s starting to get so thin!!

Thank you for this tip of grinding up your meat and using Mayo as a binding agent! I think that’s a great idea and I will definitely utilize this for my 19-month-old Type 2 daughter. We currently give her baby food meat that’s store-bought and she eats it well, but I wanted to find a way to give her meat that my husband and I make. Your… Read more

I am anxiously waiting to get my 19-month daughter a Permobil Koala. She trialed the Permobil wheelchairs and felt the Koala was the best one for her. We won’t be expecting the chair until fall or even winter of this year, but I am excited for when it arrives so she can become more mobile during long-distances! But when that happens, it will… Read more

Hello Rachel,

It’s nice to virtually meet you. My daughter is probably one of the few youngest members on this site. She is 19 months old with Type 2. I am honestly here to build relationships with the older SMA population so I can prepare my daughter for the future and learn more about SMA and how it affects daily living. We live in the… Read more

<p style=”text-align: left;”>Zolgensma is provisionally approved by FDA. The company now needs to request approval for market authorization (BLA approval).</p>
https://www.novartis.com/news/media-releases/novartis-highlights-company-transformation-catalyst-rich-pipeline-and-strong-progress-strategy-meet-novartis-management-investor-event

I’ll be attending the conference, So I hope to see you all there. 🙂

Hey Emma,

So I do not have SMA, but my 15-month daughter does. I lurk these forums often. I wanted to let you know that although I do not have SMA, lots of women without SMA experience your menstrual symptoms, to the point where it is very life-draining and very difficult to manage daily activities. You can certainly take the pill every… Read more

Welcome Jennifer! I am a lurker on this forum, as I do not have SMA, but my 15-month daughter was diagnosed a few months ago at 12 months old with Type 2. She never walked, or stand. She can only sit up unassisted. I got here to learn about SMA, to learn about how young and older members of this forum live. I think it’s great to have… Read more

I heard it’s becoming standard care for SMA patients to get a sleep study, BUT that depends on if the pulmonologist thinks its appropriate. My 15-month daughter recently saw a pulmonologist, and after assessing her and asking me questions about her sleep, he does not think she needs a sleep study at this time because her chest x-rays are clear… Read more

It is a struggle for my 15-month daughter to put on weight. About two weeks ago, she was in the 10th percentile in weight for her age. She just wouldn’t gain anything! She was getting longer, but not losing or gaining, and since my husband and I are trying to get her into an upcoming clinical trial in April, my daughter needed to gain weight… Read more

Thank you for this post, it is very helpful. My daughter, bless her heart, she loves kids and babies, and is very talkative. She is only 15-months right now, so honestly all she does is blabs away in Gibberish, but hey, she’s not afraid to tell us her feelings and what’s been going on throughout her day. I hope she continues this when she… Read more

This. Absolutely this post. I just had this conversation recently with my husband. I am currently 30 weeks pregnant with a son, who will not have SMA, and am worried about when this kind of frustration will occur between him and his sister. My husband and I communicate well and we openly express ourselves, and encourage my daughter to do so… Read more

I do not have SMA but I do have a fairly large tattoo on my back that’s colored. If you have any questions about my experience you are welcome to ask! I am sure someone will be able to accommodate you 🙂

Thanks for posting this, as it will make me take a step back to remind myself that my daughter may not need help with EVERYTHING, and even at her age of 14 months, she WANTS to be more independent. My husband and I helped to make a Bumbo Wheelchair for her this past weekend, and when we placed her into the chair for the first time, she seemed… Read more

My daughter is only 14 months old, so there’s no way for me to know if she thinks my husband and I are being overprotective parents. However, my husband and I have been more protective of her than before she was diagnosed. For example, before we knew she had SMA, we encouraged her to be around kids her age/kids in general as much as possible… Read more

I give lots of love for your grandmother…and her name is amazing 😉

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… Read more

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!

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… Read more

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!

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?

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… Read more

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… Read more

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… Read more

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… Read more

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… Read more

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

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

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… Read more

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.

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… Read more

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… Read more

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.… Read more

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… Read more

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… Read more

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… Read more

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,… Read more

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… Read more