This summer we hosted our 16 year old friend from France; I will refer to her as “A”. It is always an exciting time for our family when we host. We generally, go all over the upper East Coast, exploring a little bit more than we typically would. We took A to see New York City, Washington DC, Harpers Ferry WV, Lancaster, local markets, Ocean City and Assateague. It is usually a fun-filled exhausting-in-the-best-way summer! As enjoyable as it was, it also made me a little sad. My 12 year old, Sophea, chose to miss out on many of these activities to avoid the inevitable fatigue that would follow her if she’d gone. She opted to stay home with a friend. I missed her terribly. And my heart was breaking at all the opportunities Sophea was missing simply because she knew she wouldn’t be able to walk the distances it would require of her. In past years, we had put her in an infant stroller but obviously it was getting too difficult to push; the infant strollers are not made for sizes bigger than a toddler. Adylaede had the advantage of being small enough to be carried in a toddler tula to avoid the walks and fatigue that followed.
*We had already gone to the assisted device clinic and both girls were approved for a medical stroller in June, but we were still waiting for them to arrive.
Sophea did go to OCMD and Assateague with us. We decided to make this a mini-vacation as opposed to a day-cation like the rest of our trips with A, so we stayed for 3 nights. In the hotel, Sophea bunked with A. On the first morning, A informed us that Sophea had a difficult time breathing and it was serious enough for even her to be concerned. So immediately upon returning from the beach, I scheduled Sophea for a sleep study. And lots of other appointments.
Sophea had her biyearly follow-up with her neurologist, which led us to decide on more detailed genetic testing. We had done basic genetic testing before, when she was around 4 or 5, just checking to make sure she had all her chromosomes in the correct order and none were deleted and/or duplicated. All was normal. We chose not to do further genetic testing at that point, deciding that her hypotonia was likely caused from the difficult birth. Adylaede was born approximately 8 years after Sophea; it wasn’t until Adylaede was born with hypotonia, much like Sophea, that we suspected it could be genetic. We had Sophea’s genetic blood work completed on August 29th, of this year, and we were told it could take up to 3 months to learn the results.
Sophea was scheduled for the soonest available sleep study, August 24th. At the sleep center, they explained that several doctors read the sleep study results, and we should expect to get a call with the results in about 2 weeks. We never received a call, so I assumed everything was fine. Also, I wasn’t sure which doctors read the results and who I could call get the results, so we waited. Besides if there were any concerns, the doctor would have called me. At least that’s what I thought.
Sophea was scheduled for a pulmonology appointment because she was having a very difficult time taking a deep breath, even while she was sitting and relaxing. I had a suspicion that her kyphosis was affecting her lung capacity. Her pulmonologist appointment was October 10th. While we were there, I asked if he had any results on her sleep study done in August. He looked up the results and shared that her sleep study showed that she had severe obstructive sleep apnea. The pulmonologist really accentuated the word “severe”. I asked if he thought her spine could be the cause, he didn’t seem to think that would be the cause, but he sent us for a chest xray that afternoon to ease my concerns. He scheduled her for a pulmonary function test and also for an ENT appointment because he thought maybe her adenoids were partially to blame. I informed him that she had had a tonsillectomy and an adenoidectomy when she was younger, but he said it wasn’t uncommon for them to grow back.
She had the pulmonary function test scheduled for October 17th.
Her ENT appointment was scheduled for October 19th. The ENT saw no adenoids and thought she had ample nasal passages with plenty of room to breathe.
A follow up with the pulmonologist was scheduled for January 16th. The doctor said he would go over the results with me then. 3 months to wait for results; I should mention that all of the doctors we use are affiliated in the same network with the exception of her neurologist. (So I didn’t understand why it should take 3 months to receive the results?)
Immediately following Sophea’s pulmonologist appointment on Oct 10th, we had a neurology follow-up for Adylaede at another office. Sophea had to tag along to Adylaede’s appointment because I did not have enough time to run her back to school between appointments. Our neurologist had gotten the results of Sophea’s genetic testing just days before and decided to go over them with us at Adylaede’s appointment. For some reason, I wasn’t expecting them to find anything, not because I didn’t believe it was genetic, but because sometimes it takes years of blood work and genetic testing to actually narrow down the correct gene to break down.
The neurologist related that Sophea had a SEPn1 gene mutation (SEPn1 congenital myopathy) which is a form of muscular dystrophy. In short, it isn’t as progressive as a more common form of CMD, but it is slowly progressive. It is known to affect joint mobility, and known for a rigged spine often leading to kyphosis, scoliosis, and/or lordosis at a rapid rate. It is also known to affect the lungs and around the preteen age, children often end up with lung weakness, shortness of breath and sleep apnea. Studies have shown that if they use non invasive ventilation at night (such as cPap or biPap), it can be beneficial by slowing the negative progression of the lungs, but the sooner they use the machine, the better. Remember, how I said the pulmonologist had us waiting 3 months for results?! After we had already waited 2 months for the results of her sleep study.
The following day, I signed up for a patient health portal to email the pulmonologist. Once I was on the health portal, I realized that I could view recent test results. What?! Yay! Her sleep study was labeled as SEVERE (yes, in caps) sleep apnea and had a note on it that it was URGENT for the doctors to schedule us for the next appointment. And still we waited almost 2 months to hear the results from a doctor.
Her chest xray showed that her lung capacity was being affected; she had hypoinflated lungs.
Later, I read that her pulmonary function test showed that she had muscle weakness of her lungs and it was consistent with restrictive lung disease.
With all of this information at my fingertips, I realized the urgency of Sophea’s lungs and knew I could not wait until January to schedule her next appointment. I scheduled her orthopaedic/spine appointment at Shriner’s in Philadelphia for Dec 7th; it is highly likely that Sophea will need surgery on her spine. We are very nervous about this, mostly because we have no idea what to expect. We don’t know the process, the recovery time, the way they handle pain management for a 12 year old, if it will be one surgery or multiple. December 7th seems like a long time to wait to learn what to expect.
I also emailed and emailed the pulmonologist through the patient portal until I finally got a response, other than “I’ll forward this to the correct department.” A wonderful nurse called me back within a half hour of my last email. She validated my concerns and had an appointment scheduled with the sleep center doctor by the end of that afternoon!
Sophea’s sleep center appointment was scheduled on October 31st. The doctor informed us that severe sleep apnea is classified by 10 apnea episodes per hour. Sophea had on average 21 apneas per hour. WOAH! Basically, she stops breathing at least once every 3 minutes! He validated my concerns of urgency, and we had a sleep study scheduled for the very next night to fit her for a cPAP or biPAP. He told us it could take several weeks to have the report read and the machine at our doorstep. So, now we wait. (Aaaannnd I check the patient portal daily to see if the results are there!)
In the meantime, we will have Adylaede tested for the same gene mutation as soon as we get the lab slips in the mail. It has already been approved by her insurance.
P.S. Adylaede’s dental appointment was October 16th, in the midst of learning all of these things about my beautiful Sophea. Those plates were just asking to be dropped; the tears were willing themselves out! The teeth gave me a good excuse to cry because I know, I will forever miss this smile.