I’ve been struggling with how to begin this blog post for a couple months now. So I thought I’d try something a little different. To open, I asked Sophea if there was anything she wanted to include in our blog and my social butterfly was excited to participate:
“I feel very overwhelmed with all of the appointments after learning I have muscular dystrophy. I am 60% excited for my [spinal fusion] surgery and 40% nervous. I am excited because it will help my back, I will get to miss school for 6 weeks, and I will probably get a little taller. I am nervous because of the pain and if something goes wrong, but mostly the pain.” -Sophea, 13yo
We learned Sophea’s diagnosis of Sepn1 (previously referred to as RSMD – rigid spine muscular dystrophy) in October. We had Adylaede tested shortly after. In December, we had confirmation that Adylaede also has Sepn1/RSMD. Since, having the diagnosis, I am surprised how differently they are treated, even by health professionals that have followed Adylaede and Sophea since birth. At first, I was saddened by this since nothing had changed with my girls- their symptoms were the same before and after the words Muscular Dystrophy became a part of their charts. But now, maybe I understand this a little more.
In the past, I reminded myself many times that choosing to forego further genetic testing was better for Sophea. She was tired of being poked and prodded and we had the assurance of her neurologist that a diagnosis wouldn’t change her course of treatment. More than likely, what we saw was what we got. Her hypotonia wouldn’t magically get better, and it shouldn’t get worse. It wasn’t until summer of 2017 that we noticed a decline in Sophea’s health, and made the decision to do genetic blood work. Even before we received the genetic results, we decided to make all of the appointments we [thought we] needed.
Initially after receiving the results to Sophea’s testing, I felt relieved. I was told it could possibly take years and years and many, many tests and even then we may never find a diagnosis or cause for her hypotonia; we were pretty fortunate to have results in one round of blood work. I also felt relieved to finally have a place where we fit- where we “belonged.” I had watched Sophea struggle for years, trying to keep up with her able-bodied peers, yet we felt like we didn’t quite fit in with the disability label either. We almost felt like frauds, claiming a disability we didn’t have a name for. While their disability isn’t entirely invisible, it can go unnoticed. We have occasionally been on the receiving end of comments from strangers offering their opinions on where we should or shouldn’t park, or making sure we were aware that Sophea was too big for that “baby” stroller, or commenting directly to Sophea that she shouldn’t be making her mother push her around – she should get up and walk and let her younger brother use the stroller, or suggesting that I teach my child to use the big swings at the park instead of “hogging” the baby swings clearly intended for infants, ect… Although the diagnosis will not change strangers’ observations, nor would I offer their diagnosis as an explanation to a brazen stranger, it may change my internal dialog. Perhaps, it will make it easier to tell myself that my tiny girl deserves to enjoy some simple pleasures that other children of equal age may take for granted, such as swinging at the park – even if it means that we “hog” the baby swing for a whole 15 minutes.
I was almost positive Adylaede’s diagnosis would be exactly the same as Sophea’s.
I was prepared for it.
Or so I thought.
When I received Adylaede’s confirmed diagnosis, I had a completely different reaction than when I received Sophea’s. I had already done all the research the internet had to offer on Sepn1, which isn’t much, as with any rare disease. I knew that with Sepn1, patients typically remain ambulatory until the later years of their life; the progression is much slower than more typical forms of Muscular Dystrophy. With Sepn1, the patient’s respiratory function needs to be closely monitored by a pulmonologist with yearly sleep studies. I also learned that Sepn1 patients have a rigid spine that generally leads to early onset scoliosis. The diagnosis made sense for Sophea – all of her current symptoms suddenly fitting into a box enrobed with a label of Sepn1. I was already scheduling appointments for Adylaede with the assumption that her diagnosis would match Sophea’s. See, I was prepared. However, after leaving the neurologists office, while sitting in the driver’s seat of my van, holding Adylaede’s genetic testing results in my hand, the emotional weight of the diagnosis was just too heavy on my shoulders and I began to sob. I felt exhaustively overwhelmed; completely unprepared for what lies ahead. I’ve witnessed Sophea have to adapt to a multitude of things over the years. More recently observing her struggle with her respiratory health while simultaneously preparing for her spinal fusion surgery has been one of the hardest things, knowing there is nothing I can do to take her worries and fears away. This is a glimpse into Adylaede’s not so far off future.
Adylaede showing off her wires at her first sleep study.
Only, with Adylaede I can be more prepared than I was with Sophea. Once I realized that, a new feeling rushed over me – Guilt. Shame. Remorse. None of these words seem worthy of describing how I feel, knowing I failed my responsibility as Sophea’s mother immensely by not obtaining a diagnosis sooner. Maybe then, she wouldn’t have suffered night time respiratory failure at all. Perhaps, her lung capacity wouldn’t have been nearly as affected either.
With such a heavy weight looming over me, I searched for a support group for Sepn1 and I was so grateful when I found an established group on social media. It has been helpful to have the support and knowledge of adults, and other parents with children living with the same diagnosis as my girls. It has been incredibly informative. One of the very first things suggested, was to watch a video about CMD (Congenital Muscular Dystrophy) and respiratory care. The video was an hour and a half long, but it took me 2 days to watch it. I took 3 pages of notes! As I absorbed all the information I was given, I felt completely prepared for our next pulmonologist appointment. I admit, I assumed getting proper treatment would be easy, now that I understood what my girls needed. It definitely wasn’t.
As with any rare disease, many health professionals aren’t familiar with Sepn1. However, with encouragement from the Sepn1 group, I was prepared to describe everything I learned about this rare form of CMD to Adylaede and Sophea’s pulmonologist. That did not go as well as I had hoped. The pulmonologist chuckled at my preparedness when she saw my notes on the CMD respiratory care, but she appreciated that I brought separate binders for each girl, filled to capacity with their health records. The pulmonologist ended up spending 4 hours with my girls! She took notes of their full medical histories. She ordered PFTs (pulmonary function tests) before and after giving the girls an albuterol inhaler and was shocked when their numbers didn’t increase beyond 3%. She drew their blood herself, using freezy spray to ease the girls’ fear of needles. Her bedside manor was fabulous and she had a special touch in how she communicated with both Adylaede and Sophea. She made them laugh, and helped them feel comfortable in her office.
When she asked about Sophea’s health history, I told her about our experience with the previous pulmonologist when Sophea had her first sleep study completed in August. I shared that even though the doctors flagged her study as URGENT, no one contacted me with the results, which lead me to believe everything was normal. I explained that in October, while at another appointment within the medical center, I asked about Sophea’s sleep study results. The doctor told me she had *severe obstructive sleep apnea; her study showed 1 apnea, 172 hypoapeans. At that point the pulmonologist ordered the titration sleep study and once that was completed, her cPap machine was ordered. We receive her cPap machine on December 4th, four months after the initial sleep study showing that Sophea was in night time respiratory failure. Sophea described that she has been having a difficult time exhaling against the pressure with the cPap. I tried to validate Sophea by explaining to the pulmonologist that Sepn1 patients have a weak diaphragm and usually a biPap is recommended because they need 2 different pressures: a higher pressure for inhalation and a lower pressure for exhalation. The pulmonologist told us that in order for a biPap to be prescribed Sophea’s oxygen levels needed to be under 90% for more than 50% of the night. Her level was under 90% for “only” 46% of the night, but she offered to lower the continuous pressure of the cPap. That was an offer, we did not accept.
(*rarely do patients with CMD have obstructive sleep apnea, it is usually misinterpreted by well meaning pulmonologists with little understanding of the disease.)
When I was reviewing Adylaede’s health history of desaturations with the pulmonologist, I was trying to explain that this also may have been due to diaphragm weakness. I suggested the possibility that if she had a bipap early on, she may not have needed the supplemental oxygen. In researching, I learned that by giving patients with CMD supplemental oxygen, the body recognizes it has enough oxygen so the brain tells the diaphragm it doesn’t need to do the work. I relayed that the first recommendation is to try a biPap machine. That alone may correct the patient’s oxygen levels, but if the CMD patient is continuing to have desaturations, then they could add the supplemental oxygen along with the biPap. The pulmonologist scoffed at that, stating that using oxygen is always the first thing that any doctor would do when they had a patient with oxygen levels dropping as low as Adylaede’s had. Despite what I learned, she suggested that Adylaede was probably a candidate for at home oxygen therapy while she sleeps and also when she is sick.
I was trying so hard to share what I had learned so far about Sepn1, but it was apparent to me that I was being unsuccessful. After that, I sat quietly, politely answering any questions the pulm had. She was extremely kind. And I do believe she was well meaning in her attempt to help my girls, even if she wasn’t quite sure how. Desperate to do something, she sent them home on the inhalers even though, she had the PFTs proving they were ineffective. Overall, I felt that the pulmonologist was very sweet. However, leaving her office, I was discouraged because I felt like I would never find the treatment my girls desperately needed. I was also disappointed because I liked the way this pulmonologist interacted with my girls. …if she were only willing to listen and learn.
After sharing our experience at the pulmonologists office, Dani, our new friend from the Sepn1 support group suggested seeing a pulmonologist at CHOP that was very familiar with CMD. The problem was trying to get my girls fit into his schedule before Sophea’s surgery on April 9th. After, several emails and phone calls from their neurologist, myself, and very persuasive CMD friends, we got an appointment! Their appointment was just a few days ago on Tuesday, Feb 27. The CHOP pulmonologist was very knowledgeable, and shared my urgency in getting proper respiratory care for Sophea and Adylaede. It was so refreshing! Unfortunately, the sleep center CHOP uses, is scheduling out 3 months. But because the pulmonologist recognized how essential it is for Sophea to be established on a biPap before surgery, he is planning to admit them to the main hospital overnight to titrate their biPaps there. The best part – the biPaps will be ordered ahead of time. They will use them for the titration, then we will get to take them home immediately. NO four month wait, this time!
The CHOP pulmonologist also noted that Sophea’s lung capacity had decreased to the point she can no longer take a deep breath. (I’m holding on to a lot of guilt about that too. If I’d only tested her sooner, maybe I would have recognized the need for respiratory care, and this could have been prevented. I am sincerely trying to move into a more positive, focus-on-the-present, let’s do the best with what we now know, but it’s so hard! When I see her suffering to take a deep breath, the “what if’s” persist.) To help with her lung capacity, The CHOP pulmonologist is suggesting we use a cough-assist machine. Cough-assist machines are most often used to help clear the lungs of secretions that may lead to pneumonia or bronchitis, but it could potentially help with her lung capacity as well. If it doesn’t help reverse some of the damage, it should at least help keep it from progressing further.
I am very relieved that we only live 2 hours away from the pulmonologist so familiar with CMD / Sepn1 , even though appointments there make for one very long, exhausting day! But I’m excited that we are finally receiving the best treatment available for my girls.
*To follow Dani’s journey with Sepn1 – click here —> mydystrophia.com
Because this blog post is probably the longest most boring one to date and may leave you feeling like I’m suggesting that everyday of our life is dreadful- since I tend to mainly write about our struggles, I’m including a few random photos to cheer you up at the end! Enjoy and thanks for reading.