Treating sleep apnea is so complicated for individuals with Myotonic Dystrophy (DM). The treatment also can vary from person to person. Typically DM patients that are diagnosed with sleep apnea are treated just like any other sleep apnea patient. The most typical sleep apnea individual, according to the online Mayo clinic, has excess weight, a thick neck circumference, a narrowed airway, are male, and are older. But for those of us with DM, sleep apnea is caused either by the muscles that won't relax and contract the way that they should (obstructive apnea), or by the brain forgetting to breath (central apnea).
Many years ago, they started my son Warren, on a C-Pap (Constant Positive Air Pressure).This was in 1998. There wasn’t much known about atypical sleep apnea at that time. He couldn’t make it work and would take it off after falling asleep with it on. We worked with him and the machine for many months. I would even sleep at the side of his bed so that I could put the mask back on when he took it off. Since Warren wasn’t successful at using the C-Pap, the doctor put notes in his chart stating that he was “non-compliant”.
These notes of “non-compliant” followed him for many years. Doctors wouldn’t work with him after that because they assumed that he was a behavior problem, not realizing that “non-compliant” had to do with his body’s inability to use the typical sleep apnea treatment, C-Pap. Some doctors don’t realize how important their notes are. But since this doctor wasn’t familiar with either Warren or DM he didn’t take the time to realize that Warren couldn’t help the fact that he couldn’t use C-Pap.
After researching sleep apnea and DM I found a sleep specialist that wrote an article about sleep apnea caused by a neurological disorder. He was in California and we communicated by phone. He stated that those with breathing disorders caused by neurological conditions need a Bi-Pap (Bi-level Positive Air Pressure). With a neurological condition, and especially with DM, the individual doesn’t have the strength to breathe out against the constant air pressure created with a C-Pap. With the coaching of this gentleman I was able to convince a new doctor to give Warren another chance. He hesitantly prescribed a Bi-Pap for Warren. That worked better and Warren used it for many years and he lost the “non-compliant” label but he was still never successful at leaving it on all night. Eventually Michael and Chad were also put on a Bi-Pap.
A couple of years ago when my family was seeing the pulmonologist at the MDA clinic she used a device that can test for CO2 called a Transcutaneous CO2 monitor. After testing our sons she found out that they all retain CO2 (which is poisonous) and therefore qualified for a Trilogy machine. A Trilogy was originally made for individuals who were on a ventilator. The Trilogy turned out to be an excellent device. This was the first device that Warren was successful at leaving on all night.
This Transcutaneous CO2 device (TcPCO2) has changed the way that my family is diagnosed and therefore the way that they are treated. In the past, in order to tell how much CO2 a person was retaining in their system they had to take an arterial blood draw. This is possible but it is more uncomfortable for the patient than a regular blood draw because they have to insert the needle deep into their arm in order to access an artery. My family had never had arterial blood draw ordered. Maybe the doctors weren’t aware of the danger of elevated CO2. The understanding of neurological disorders and sleep issues is improving constantly. But with this new TcPCO2 device the doctor was able to attach a monitor to their forehead and let it accumulate data for about 15 minutes.
Every time that my family members are at the MDA clinic their CO2 levels are monitored with this TcPCO2. Eventually Kent and Andrea were put on the Trilogy due to the testing with the TcPCO2. Kent has adapted very well. But it has been an ongoing struggle for Andrea. Andrea didn’t have the same insurance as the rest of us so she had her sleep study done at a hospital that isn’t a teaching hospital. Andrea was started on a different device than the rest of the family. Andrea was originally put on an AVAP (Average volume-assured pressure). She went back time after time for evaluation. Andrea went through many settings and many masks but still she was unsuccessful.
Andrea’s CO2 levels started to be a little too high so she was prescribed a Trilogy. I thought that would make all of the difference for her. But still she couldn’t tolerate it. Andrea can’t fall asleep with it on. She wears it in the daytime to try to get used to it. Andrea is very compliant and does everything that they suggest but still no success. Andrea is still being seen for her sleep apnea and recently Andrea and the technologist decided that the AVAP had been the most successful for her since she had been able to sleep with it on for two hours one time. So, she no longer has a Trilogy. Andrea owns her AVAP and her insurance will cover supplies for her, but still it sits by the side of her bed and is not used.
If things were the same as they were many years ago Andrea would be labeled as “non-compliant.” I know of many DM individuals that can’t tolerate their breathing device. It concerns me for Andrea because untreated sleep apnea is hard on the heart. But, at this point, I don’t know how to help her. It’s even been suggested that Andrea’s sleep apnea isn’t severe so on some level her body doesn’t find any support from the device so her body continues to resist.
The only thing that I know to do is to keep following up with the neurologist and pulmonologist at her twice yearly MDA clinic visits. Hopefully, eventually, something will be figured out so that she can tolerate it.