Adam, now 11 years old, was diagnosed with Centronuclear Myopathy (CNM – genetic form unknown) at around 1 year of age. This is a story of our family’s journey to find the best respiratory health for him.
Early years (RSV risks, sleep assessment, lung development, chest ROM)
Adam had a normal birth, with no breathing difficulties. Shortly after, when he was diagnosed with CNM, he had a sleep study to rule out disturbed breathing at night. It is very common for even typical people to have decreased breathing function while sleeping or lying down. Difficulties become even more pronounced in people with muscle disorders and so most people with a muscle disorder have their nighttime breathing checked out. You can read more about this in the medical article, “Assessment of Sleep-Disordered Breathing in Pediatric Neuromuscular Disease” by Sherri L. Katz.1 One way to measure nighttime breathing is in a hospital setting. The patient is hooked up to monitors that can measure oxygen, carbon dioxide, and more while they sleep. This can also be done in the home setting if you can find a provider who is willing/able to do this. Luckily, our respiratory care provider has a machine that can measure Adam’s oxygen and carbon dioxide in the comfort of his own room. Adam’s sleep study in infancy was normal, thankfully.
After it became clear that Adam had some kind of muscle disorder, but even before his final diagnosis, our pediatrician knew that he was at risk for significant complications from a respiratory syncytial virus infection (RSV). At around 9 months of age, Adam started taking a monthly injection of Synagis in order to prevent RSV. The drug Synagis (palivizumab) is used for the prevention of RSV disease in children younger than 24 months who are at high risk for serious RSV disease. Adam got these injections during cold and flu season up until 2 years of age.
Adam’s toddler years were marked by frequent colds and respiratory illnesses. We managed them by using the Cough Assist machine, manually assisted cough, chest PT and medications.
Respiratory infections or head colds in general make life very challenging for our family. We try our best to prevent Adam from getting infections. We avoid public places that are frequented by children during cold and flu season (e.g. video arcades and children’s museums, where everything is touched by multiple children). Family and friends know to stay away if they are sick. During the cold and flu season all play-dates are accompanied by a question as to whether or not the friend is healthy (no coughs or runny noses). We have trained Adam in proper hand-washing. We let him pick out his favorite soaps and make towels and sinks easy to reach to encourage him to wash frequently and thoroughly. We also train common visitors and caregivers in handwashing (e.g. Grandparents, visiting cousins). The first thing we do when we come inside the house after being out (especially Adam and especially after school) is wash our hands. We frequently clean commonly touched items in our home like keyboards, remote controls, light switches and other such surfaces. We have very little control over surfaces and exposure at school, however. Despite all these precautions, Adam still gets sick.
We found it very helpful to write down our “Sick protocol” and share it with our school nursing team. It includes a checklist. The checklist is very helpful, especially when there are long periods between illnesses and we may forget helpful things that we have done in the past. We also made a “respiratory illness” bin that includes the checklist and essentials that we only use during those periods (e.g. chest percussor, pulse oximeter and nebulizer). Since sick times are high-stress and likely low-sleep times in our house, these simple steps can help make for easier management during respiratory illness.
Strategies for airway clearance during acute infections include frequent use of the Cough Assist, manually assisted coughing, and occasionally, the use of inhaled medications. We also learned to blow the nose using the Cough Assist, which is a fantastic thing!! (See video for a demonstration)
Since a child’s lungs are developing even up until age 8, we knew that it was important to get full lung expansion. This allows for range of motion (stretching) of the airways and the chest wall. We did this using either a manual resuscitator (e.g. Ambu bag with a mouthpiece and a one-way valve) or with the Cough Assist machine. This range of motion on a daily basis helped to encourage normal development and growth of the lungs. (See video for demonstration) You can read more about cough augmentation equipment in the medical article, “Equipment Options for Cough Augmentation, Ventilation, and Noninvasive Interfaces in Neuromuscular Respiratory Management” by Louis J. Boitano.2
During a chest x-ray to rule out a lung infection at around age 4, Adam was diagnosed with mild scoliosis (curvature of the spine). We began to monitor this regularly with a pediatric orthopedic spine surgeon.
Shortly after starting kindergarten, Adam started waking up 3-6+ times per night. We tried many things to try to stop this challenging behavior. Our pediatrician felt that it was developmental, related to separation issues with the start of kindergarten. We tried many behavioral techniques and nothing worked. We had a repeat sleep study in the comfort of our own home that showed that Adam was having nighttime hypoventilation (inadequate breathing). The report showed that Adam’s CO2 levels were rising at night. The body has a natural defense when CO2 rises at night – it wakes itself up. I think that this change was due to his scoliosis. It was then when we decided to start giving Adam nighttime intermittent positive pressure ventilator support using a nasal facemask with an LTV 950 ventilator. (See video for demonstration). This is also referred to as non-invasive ventilation because it is not used with a tracheotomy.
This is not to be confused with Bi-PAP. Adam’s doctor felt that he did not want Adam breathing out against pressure so there is no pressure during exhalation (therefore not Bi-PAP). It took Adam a good 6 months to adjust to the ventilator. We ended up making many adaptations to his headgear. (See video for adaptations). You can read more about this in the medical article, “Initiating Noninvasive Management of Respiratory Insufficiency in Neuromuscular Disease” by Joshua O. Benditt.3
After careful consideration, Adam had a feeding tube placed at age 8. Having the feeding tube greatly improved his caloric intake, growth, nutrition, and hydration. In fact, since the placement of the tube, Adam has not had a chest infection in 2 years! With the tube, we are better able to maintain hydration and calories during head colds as well as administer medications. I believe that the feeding tube has had a major positive impact on his respiratory health.
As the years passed, Adam’s scoliosis worsened. We chose a protocol of nighttime bracing with a Providence brace. The brace does a fantastic job of correcting Adam’s curve to be very straight for 9+ hours every night. The benefit of wearing the brace at night means he does not have to be bothered with a brace during the day, and we know he gets the ventilator support while he has it on. The downside of the brace is that although it corrects his spine very well, the continued forces for hours each day have resulted in changes in his chest wall. We can now see that the force of the brace is pressing his ribs in a downward fashion. For right now, his breathing capacity keeps improving and this protocol seems to be working. As he grows more and potentially has more progression of his curve, we will reassess our options.
As frequent air travelers, we have found that Adam needs breathing support during flights. We have had no problems with using his vent during flights.
Anyway, I hope that by sharing our journey we can help some way with yours. Wishing you all the best of respiratory health!