The time finally came.
We’ve spent a lot of time after our diagnosis reading up about SMA. What is the science behind it? Can it be treated? If so, how and where? A lot of our research kept leading us to Nationwide Children’s Hospital in Columbus, OH.
Wait, Nationwide? The blue squared car insurance company? Yes, in fact. Nationwide Insurance, also of Columbus, is parent to the Nationwide Foundation, which in 2007 provided $50 million in funding to Children’s Hospital of Columbus. The hospital was appropriately renamed in recognition of this huge gift.
Regardless of it’s name (or location), there was one reason that we wanted to get on the appointment books ASAP: clinical trials and treatments. Nationwide has its own Spinal Muscular Atrophy Clinic that was jointly created with Ohio State University. We read a lot about Ohio State’s Dr. John Kissel and his SMA research into treatments that increase SMN2 production and others that replace SMN1 via gene therapy. There haven’t been any active clinical trials that Alexander has been eligible for up to this point, but we felt it was vital for him to be seen by experts.
Back at home in West Virginia, there aren’t many options for us when it comes to doctors. Add to that the lack of specialists, specifically pediatric specialist, compounded with no active SMA specialists and you can understand why we were compelled to explore outside of the state. We are very thankful for the doctors available to us locally. We are lucky to have doctors serve patients in our rural state while presumably having less opportunity compared to other places. Having said that, we MUST advocate for Alexander. This means we MUST do everything we can to make sure that he gets the best treatment we can get for him. If it is within our means to have him be seen by experts in SMA, experts conducting research into treatments, then we have to get him there.
The mountains of West Virginia don’t look quite like this. Alexander and his brothers were in awe of the tall buildings. We are usually hugged by mountains, not seeing too far into the horizon. This was different, you could see great distances, with open landscapes and flat, visible lines where the sky meets earth. This exaggerated the tall buildings for us in downtown.
We made our trip the night before our visit. We were told that the orientation visit could take 4 hours or more. 4 hours?! That sounded intense. In retrospect, our past experiences spending hours in waiting rooms anxious for our number to be called tainted our expectations for this visit. It is worth mentioning that we brought along Owen (7) and Ethan (6) and were very concerned with our ability to keep them entertained while we spent time soaking up every ounce of knowledge from the SMA specialists.
We’ve never been to a children’s hospital like this. Alexanders first Pediatric Neurologist was housed in the Charleston Women’s and Children’s Hospital in Charleston (CAMC). We then saw specialists at Ruby Memorial in Morgantown. CAMC is a nice hospital, but this felt different.
This looks like a museum!
In fact, Nationwide Children’s hospital is a world different than any hospital we have ever stepped foot in. It was fun and exciting. The walls were adorned with many murals of varied trees, butterflies, and birds that could have been from the pages of a children’s book. There were large wooden sculptures of various creatures. Our son Owen even commented as we walked down the halls, “This looks like a museum!” It wasn’t scary or intimidating. There were huge decorated Christmas trees around every corner. The hospital had various resources for families throughout, and at every turn there was always someone willing to help or offer assistance. I think the colorful walls, glittery floors, and kind folks were a nice distraction for Alex. Alexander has already gained a disdain for hospitals and doctor’s offices. He’s been quite the lab rat this year, especially when were desperate for answers.
The SMA Clinic
Our appointment was at 2PM, but we arrived early so we could check big brothers into the Clubhouse in a different part of the hospital. The Clubhouse is place for siblings to play while patients and parents attend to appointments and treatments. They can be dropped off in hour and a half stretches of time, getting checked out for 30 minute intervals for snacks and drinks.
The older boys had a lot of fun at the Clubhouse. They built Legos, colored, and played with toys. We were given a beeper in case we were needed while away. It looked like the same beeper given to medical staff; felt so important carrying it around! It is a pretty great system.
After dropping Owen and Ethan off, we headed back to the MDA clinic for our appointment. You start in the exam room, with each specialist taking turns to come to you when your ready. There is no running from suite to suite or building to building to meet with each specialist (or in our case previously, town to town!). At one point we even had two specialists in the room talking to us and to each other about Alex at one time. I cannot say how amazing it is to have doctors actually be able to communicate wih each other, without us having to be the ones relaying information!
We had several professionals meet with us at our appointment, including a Neuromuscular doctor, Pulmonologist, Complex Care Pediatrician, Muscular Dystrophy Association (MDA) representative, Social Worker, Occupational Therapist and Physical Therapist. The Social Worker and MDA reps were helpful in giving us information on resources that we could possibly apply for, for Alexander. As of this moment, we don’t receive any assistance in any form for him other than equipment from the Birth to 3 program (an early intervention program that gives him weekly physical and occupational therapy).
The Neuromuscular doctor probably spent the most amount of time with us. She talked about the mechanisms of the disease and how/why it progresses. She talked about a couple of treatments that are in the trial phase at the moment, and how they work. You could tell that she was very passionate about SMA research. It was such a stark difference from seeing doctors who have only treated a handful of kids with SMA in their entire career, to seeing a doctor who is a researcher working on treatments. Possibly one of the most exciting things that came from the Neuromuscular doctor was that they are already preparing at Nationwide in anticipation of the FDA approving Nusinersen. While we don’t yet know if Nusinersen will be approved for all SMA types (Alex is type II), it is exciting to know that in the next 6 months, Alex could possibly get treatment at Nationwide if the FDA approves it!!
Nusinersen is a spinal injection that has to be given 3 times in the first month, and then once every three months after that, indefinitely. This drug is not a cure, but it does stop the progression of the disease. This gives us much hope for Alex’s future. One of the therapists examined Alex and noticed his muscles in his mouth/throat (palate) seem to be weakening. She said his tongue had a twitch and the way he was speaking indicated weaker muscles. This is something we have to be mindful of and keep watch closely, because progressive muscle weakening is what eventually causes SMA kids to choke and aspirate while eating and drinking.
The Pulmonologist got us a referral in for a sleep study. He wants to make sure Alex is getting enough oxygen while he sleeps. Many SMA kids need a bipap at night and it is something we may have to look into. He also is ordering a cough assist for Alexander. A cough assist “helps to clear secretions from the lungs by helping you with your breathing. When you breathe in (inspiration), the machine gives you air (positive pressure) to help expand your lungs.” (Cure SMA).
Fun side note: all of the doctors will be at the SMA conference…
The complex care pediatrician talked with us about Alex’s size, which he is happy with currently. He talked about giving Miralax proactively and said we would see him for any issue that isn’t Neuromuscular or Pulmo related. Fun side note: all of the doctors will be at the SMA conference we are going to in June (I can’t remember which, but one is actually a speaker). We will return to Nationwide in six months to meet with our team of doctors, and also sometime before then to do the sleep study. We are so happy we made the choice to take Alex to the SMA clinic. It finally feels like we have Alexander in the best hands possible, that we are doing all we can on his behalf.