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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 13 replies, 6 voices, and was last updated 1 year, 6 months ago by DeAnn R.

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    • #16186
      Krystal
      Participant

      Hello everyone. My husband and I are nurses and we live in Texas, Dallas area. I am pregnant with our second child. Long story short, I am positive to be a carrier for SMA, while my husband is negative. But our daughter is positive (I swear to you…my husband is the father!). The genetic counselor explained the possibilities of our daughter getting the disease even though my husband tested negative. I am getting an amniocentesis done this week for this second baby, which is a baby boy, to determine if he is positive for SMA. I am 18 weeks currently.

      My daughter is a 13-months old and can sit unassisted for 30 minutes or more, for the most part (once she falls over, she cannot get back up unless we prompt her and remind her to use her hands and lift her head. Her coordination is not very good). She can lift her arms above her head for a short time, and then becomes a brat and doesn’t want to lift them anymore. She can bear weight on her legs and stand for 1-3 seconds–my husband says on a good day she can stand for 5 seconds before buckling her knees in. She can move her head very well, and can look down, but she prefers to lift her chin up while trying to pick up things off the floor. She does not appear to have any trouble breathing during the day or night. She is teething and loves to bite into food so crunchy foods that can easily dissolve are appealing to her (like rice puffs, cheerios). She doesn’t eat as much as as a normal baby her age, but she tries and we have discovered that she eats better and more when we feed her all day. She’s a snacker.

      These symptoms appear to be significant with Type 2, from what I’ve been told. She does not have the SMN1 gene and 3 copies of SMN2.

      Currently, we are awaiting for one of the MDA centers to call and schedule an appointment for my daughter. In the meantime, we have been instructed by a neurologist to continue with physical therapy and keep up with her nutrition, and that’s it. No special diet at this time, no further therapies right now. My husband and I do physical therapy with her every single day and she sees a chiropractor 2x a month. She goes to daycare 3x a week for social development. She’s a talker–OMG she’s a talker. I absolutely love and am thankful for the fact that her cognition will remain unaffected.

      Is there anything else we need to do for our daughter at this time? I have already contacted CureSMA and MDA.org for more information. I have already asked for permission to join SMA groups on Facebook. What are things we need to prepare for, in regards to her future? How to modify our home? When should we buy an electric wheelchair? Or is a manual wheelchair better for her? Will she eventually have problems with breathing or does that just depend? How fast is the regression for SMA Type 2, or is that individualized? Am I thinking too far ahead? Is Spinraza really that “great”? I am aware of Avexis/AVXS-101/Zolgensmasdflkasdflsd (sp? lol you know what I mean), but it is to my understanding that it is currently awaiting FDA-approval for Type 1 only at this time.

      Sorry for the long post and I greatly apologize for any dumb questions. I am honestly scared and overwhelmed but I feel so much better knowing what my daughter has as opposed to when we were anxiously awaiting results from my husband’s genetic test. It was way worse not knowing what was going on with my daughter, and now I know it’s SMA. Now it’s time for me to do whatever I can to help her. So I came onto this forum to learn about all of your experiences with SMA, all and any information/resources you may have that will help my daughter. I also want to connect with other families and hopefully be able to give back to the organizations that are feverishly trying to help find a cure and raise awareness of SMA and advocate.

      I look forward to getting to know everyone!

    • #16189
      Kevin Schaefer
      Keymaster

      Thanks for posting Kyrie. You’re asking all of the right questions and taking the right steps. It is very overwhelming at first, and there are no easy answers. There is however a lot of hope, and things to look forward to.

      I’m an adult with type 2, and I would say your daughter is doing pretty well. Physical therapy is a great step, and it’s also good to hear that you’re seeing a neurologist. Have you talked with this neurologist about Spinraza? It certainly does do wonders, and your daughter would definitely be eligible. If you’re in contact with Cure SMA that’s a good step.

      As far as diets, I’ve always been on a normal one. The only time I did a feeding tube was when I was hospitalized as a kid. If she’s chewing and swallowing fine, she should be fine to eat normal foods.

      Regarding your questions about progression and your daughter’s future, I’d encourage you to read my columns here: https://smanewstoday.com/category/embracing-my-inner-alien-a-column-by-kevin-schaefer/. I write about how I’ve managed to have a strong quality of life, even before I started Spinraza. SMA is overwhelming, but both myself and tons of others out there who live with it are still living our lives to the fullest. Your daughter has a ton of potential.

      Thanks again for being open. We’re here to help any way we can.

    • #16192
      Krystal
      Participant

      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.

    • #16193
      DeAnn R
      Keymaster

      Welcome!  I’m sure it’s completely overwhelming.  I can only imagine what my parents went through when they learned I had SMA type 2 when I was just about 2.  Genetic screening has much improved, my Mom had to argue with the doctor that there was even an issue.  I’m 39 now and can tell you your daughter can have a happy fulfilling life as can your upcoming baby (congratulations!) regardless of SMA.  I too have 0 SMN1 and 3 SMN2.

      None of your questions are dumb.  As far as an electric wheelchair it was a game changer for me.  I didn’t get one until I was 7, but they’re allowing them much younger these days.  I just spoke to a young lady who started learning to drive one at a year and a half and got her first electric chair at 3 years old.  I would certainly check into it for her.

      Diet can be tricky with SMA.  Some parents suggest a feeding tube right from the get go to supplement nutrition, however I didn’t get one until I had swallowing issues as an adult.  I’m glad I didn’t get one sooner, but it’s a personal decision.  If you’re ever concerned about swallowing you can request a swallow study.  Another thing about diet is that it can be difficult for kiddos to digest fats and complex proteins because it takes so much energy to do so.  Because of this a lot of parents lean towards an AA diet.  I can’t tell you much about it though other than it’s geared towards more elemental foods that are more easily broken down.  I’ve heard breast milk is well tolerated, but a lot of the formulas have way too much fat.  It’s also been helpful for some to have several small meals and snacks throughout the day instead of just a few big meals.  That way there’s a more constant energy source and you don’t have to worry about burning muscle instead of fat.  I’ve heard someone with SMA shouldn’t go more than 4 hrs without food.  Personally I don’t follow that advice.  Of course you should discuss this all with a doctor or nutritionist before making changes.  Preferably one who has experience with SMA.

      As far as respiratory issues it sounds like your daughter is quite strong.  It still might be a good idea to talk to a pulmonologist. It wouldn’t hurt to have a cough assist or nebulizer on standby for when she’s sick, they would be the ones to get you set up with that.  They might even recommend a sleep study.  Many SMAers use bi-pap at night.  I never have, but I can see where it could be beneficial.

      Staying healthy is important.  When we get sick it usually hits us hard.  Good hand washing and trying to avoid others who are ill is important.  I’m pro vaccine, so if you are as well make sure the whole family has had their flu shots.  Not the nasal mist though.

      Spinraza is another personal choice. In my opinion it is something you should consider for your daughter.  The earlier the better.  SMA doesn’t get better on its own and it’s progressive.  I couldn’t fathom where I’d be today if it was available when I was diagnosed.  Although there are ongoing trials for Zolgensma, the only one up for FDA approval is for infants type 1.  That approval isn’t expected until May, so I don’t know how long it will take for further approvals.  Young children have seen great results with Spinraza.  Maybe if your baby is diagnosed with SMA Zolgensma would be an option?

      As far as advice, most importantly treat your daughter as you would any child.  A positive attitude is so important.  Focus on what she can do instead of what she can’t.  I know you said Texas, so what I’m about to say doesn’t apply completely but shows how grateful I am to my parents for going the extra mile.  When it was too cold and I couldn’t play outside my Mom would bring in a cake pan of snow so I could build snowmen with an ice cream scoop.  They bought me a pair of ice skates so I could sit on a chair and they would slide me around on the ice as I swung my feet pretending I could skate.  I took swimming lessons and piano class even though I couldn’t do it as well as the other kids.  All of those experiences shape us, so don’t limit yourselves.  It will be hard at times but will be joyful more often if you make the best of it.

      Hugs!  Sorry for the lengthy response.

      • #16222
        Krystal
        Participant

        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.

    • #16197
      Ryan Berhar
      Keymaster

      Welcome, Kyrie! I’m 22, and have SMA type 2. I can assure you that none of your questions are dumb, but they’re difficult to answer, as SMA varies so greatly from individual to individual. I’ve often said that there should be more than three types, because even people within the same type are so different. That said, I’ll give you the best advice I can based on my own experience.

      I would say that getting on Spinraza should be your number one priority. It is far more effective for younger patients. At a minimum, your daughter’s symptoms will not progress—which is absolutely enormous— and she also has a solid chance of getting stronger. Therefore, the following issues should be much less severe.

      Starting at about age three, I had respiratory issues galore. I had pneumonia on basically a bi-annual basis. This was largely due to the curve of my spine causing my left lung to easily collapse. Even though your daughter seems to be doing okay in this regard, I’d get on top of it. You don’t want to get blindsided by respiratory issues like my family was. See a pulmonologist, and get an oximeter to monitor her oxygen.

      Nutrition varies more than anything else I’d say. I got a feeding tube at age six, and I can pretty much assure you I wouldn’t be here today without it. I get tube fed a formula called Tolerex every night.  If I don’t receive enough Tolerex, I am more susceptible to something called metabolic acidosis, which is a chemical imbalance that causes horrible stomach problems. It has actually almost killed me a couple times. I don’t think everyone with SMA is affected by it, but it’s definitely something to be aware of. It’s by far the worst thing I’ve dealt with.  Regarding nutrition in general, I believe everyone needs to assess their own needs. I reject any “one size fits all” nutrition plans, because, as you’ve seen in this thread alone, Kevin and  DeAnn are different than me. I also want to let you know that feeding tubes are extremely minor. It seems that people are often scared to get one, but they’re not a big deal at all.

      At age nine, I got a spinal fusion surgery. It’s a major surgery, but it worked wonders for my long-term health. It straightened my spine, so the respiratory issues I mentioned earlier became non existent.

      I don’t want to make this comment super long, so I’ll leave it at that. I’m more than happy to answer any further questions. God bless.

       

      • #16223
        Krystal
        Participant

        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!!

    • #16198
      Halsey Blocher
      Participant

      Hi Kyrie! I’m a 21 year old type 1. You’re questions are all great and it’s great that you’re asking them! Your daughter is young so she would be very likely to benifit from Spinraza. It’s something you should definitely educate yourselves about and discuss. While it sounds like your daughter isn’t having any trouble breathing, I would still encourage you to meet with a pulmonologist. It would be best if you could meet one who specializes in SMA. Even if she is doing well, you’ll still want to monitor it so you can stay on top of any problems that arise. I got my feeding tube at the age of 13. At that point it became too difficult to eat enough by mouth so we began supplementing with the tube. Aside from that, I eat whatever I feel like. You’ll have to decide for yourselves, and possibly with your daughter depending on how old she is when it begins to be discussed, when the right time is to get a tube if at all. What DeAnn said about treating her like a normal child is perfect. Always encourage her and make sure she is included. Support her, love her, and fight for her. Remember that she and you will have good days and bad days. Never give up on her. If there’s ever anything you need, any of us here would be happy to help however we can.

      • #16257
        Krystal
        Participant

        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.

    • #16215
      Adnan Hafizovic
      Participant

      Hi Kyre I have type 3. You are good example how nobody knows which child would have some illness.You said that you are again pregnant,what say doctors,would that child have SMA?And what you will do if that unborn child has SMA?

      • #16258
        Krystal
        Participant

        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.

    • #16519
      Krystal
      Participant

      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!

      • #16520
        Kevin Schaefer
        Keymaster

        Genetics are crazy! I have two older siblings who are unaffected, and I know other families in the same boat. It really just varies.

        Glad your son is unaffected! I know that’s a big relief. Hope you and your family are doing well.

    • #16521
      DeAnn R
      Keymaster

      Thanks for the update. One less thing to worry about! Really intetesting on the genetics aspect. I’ve had SMA my entire life and I still learned something new.

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