LOVE EVERY ONE. PROMOTING AN ALL INCLUSIVE WORLD. SPREADING AWARENESS OF SPINAL MUSCULAR ATROPHY (SMA), FUNDING RESEARCH AND SUPPORTING CHILDREN AND FAMILIES AFFECTED BY CHILDHOOD DISEASES AND DISORDERS.
Therapies are very important with individuals with SMA. Physical, Occupational and Speech therapy are part of Leo's daily routine. He works on stretching and maintaining range of motion, strengthening, oral therapy, communication with his EyeGaze Device and more. He also has an Early Interevtionist that helps coordinate the above and helps us and Leo with other needs. As a PT myself, I am obviously a huge believer in its' importance and place. However, like many things it is often a balance. Respiratory function always takes priority. I am also a huge believer in life therapy, including trips to the zoo park and seeing friends.
Most SMA families will tell you their houses are full of equipment and supplies. Standers, special seating systems, angel arms, braces, power chairs and wheelchairs to name a few!
Staying connected to a pulse ox and heart rate monitor can give you a great deal of information. It is important to know these numbers during emergency situations. They give information about airway blockage, when to initiate CPR and when recovery is starting.
This machine also gives great information on a daily basis. SMA specialists like for oxygen levels to be maintained at 95% or above. It is important to know if your child's oxygen levels are lower than this. Knowing this information can lead to proactive treatments that can prevent emergency situations. Heart rate if elevated can be an early sign of (among many things) illness, teething, work of breathing, digestive issues ect.
SMA includes weakening and atrophy of muscles required to eat. When Leo was born he was able to nurse very well. I will never forget the last time we shared this special bond. He ended up in the hospital Christmas Day when he was just shy of 2 months old. He was never able to nurse or take a bottle after this. His swallow had weakened to the point where the risk for aspiration with subsequent pneumonia was too high. For this reason he now has a g-tube. It connects directly to his stomach and all of his nutrients are fed to him through this. He must be hooked up to his feeding pump 22 hours a day so he is continuously “eating” via his g-tube. Leo gets a special amino acid based formula, breast milk (thanks to amazing donors) and grape juice. As with other babies, as he gets older his diet will continue to get more complex. Many children get fresh fruit and veggies juiced or pureed through their feeding pumps.
Losing his ability to swallow has also made Leo unable to manage his secretions. One of the machines you may have seen is a suction machine. This machine is critical to Leo’s care. He requires constant suctioning to maintain an unobstructed airway. It is not uncommon for Leo to get choked up on his own secretions causing dramatic drops in oxygen levels and heart rate. It can be very scary at times, but Leo always comes out of this with a smile like nothing happened. This is also why you see Leo lying flat, and with his head to the side. This helps secretions run to the side, instead of down his airway. This also makes holding Leo very difficult. It is one of the toughest things we deal with on a daily basis, the fact that we can not just scoop him up and comfort him when he is upset or scared. Like every other situation, we adjust and find our own ways to comfort him and each other. We go horizontal, and love to snuggle him while lying down! And his best buddy Wyatt loves that Leo is always right at eye level. As Leo has gotten older, he has become much better at managing his secretions and we have been able to hold him for much longer periods and he even sits up with special head, trunk and seating support.
The muscles we use to breathe are also weakened from SMA. The muscles in between the ribs, the intercostal muscles, are weakened to the point that a baby with SMA will use their diaphragm (a much stronger muscle) to breathe. This is hard work! Most babies with type 1 SMA would benefit from breathing support at night starting at a very young age. When sleeping, the muscles used to breathe are more relaxed. When these muscles are already weakened, the breaths become very shallow. This can result in a drop in oxygen levels and an increase in carbon dioxide (hypoventilation). Non-invasive support using a ventilator machine can be extremely effective in helping provide support. This machine uses a mask that covers the baby’s nose, and provides additional respiratory support by forcing air into the lungs. This allows the baby to receive a higher volume of air, and also helps keep the lungs more expanded during exhalation. A BiPAP can also be lifesaving during times of illness.
This is one reason we always talk about how hard Leo works. It is very hard work for him to just breathe. When Leo is sleeping on his BiPAP he gets to rest. It has a set rate of breaths that it delivers to Leo. His belly relaxes and his chest expands. We are so grateful to have this piece of equipment. Leo would not be with us at this time if he did not have this particular machine. For the most part he only needs this while sleeping , however there have been several times when he had to be put on his BiPAP when awake for different reasons in order to keep his oxygen levels up. His body must get adequate rest, or he can go into respiratory distress. We always tell Leo that he only has one rule, and that is to get some rest !!!!
A CRUCIAL element of using a ventilator as a bipap (i.e. non invasive, with a mask) is to have correct settings. Unfortunately many pulomonologists are not familiar with SMA and do not know proper protocol. Using this machine with improper settings can not only be of no benefit, but can actually be HARMING a baby with SMA. We recommend any newly diagnosed family to do their research. There are published clinical trials that state proper protocols and age appropriate settings. Get in touch with a specialist. Reach out to other families.
The muscles that give us the ability to cough are also weakened with SMA. Many individuals benefit from a Cough Assist machine. This machine works by applying positive pressure into the airways to fill the lungs with air and then rapidly shifts to negative pressure to pull the air out of the lungs. The rapid change in pressure simulates a cough. This helps clear the lungs of secretions. The pressure exerted is measured in cmH2O. Leo’s is set at 40. Meaning the pressures he receives is equal to a column of water of 40 cm in height at 4°C at the standard accelerations of gravity. It is quite forceful, but equally effective.
Leo has a treatment using this machine every morning and evening, and often requires an additional treatment during the day. When sick this treatment can increase to every 2-4 hours. Prior to using the machine we pat Leo with a small mask over all areas of his lungs in different positions to help loosen secretions. (Wagon rides on a gravel driveway help with this as well!) Leo feels much better and can breath easier following a treatment. This machine is also critical in emergency situations. Individuals can develop a mucous plug that can totally block the airways. Suctioning alone may not be able to remove the plug, and emergency coughing with this machine can be live saving.
Currently there is no cure for SMA, BUT there are treatment/care options.
1. Non-invasive Care- this includes chest physiotherapy, cough assist and BiPAP.
2. Invasive Care- this includes a tracheostomy with ventilator support.
3. Palliative Care-this is when the parent would choose that the above options are not right for their child. It is often termed a “comfort care” approach in which alternative treatments such as oxygen and medication are used to keep the baby comfortable. The majority will not live past 1 year.
This does not mean that there aren’t gray areas, and it certainly doesn’t mean once one path is chosen you no longer have choices or options for another. We have had many difficult decisions to make. We are doing a Non-invasive approach with Leo, but we believe that there are no wrong decisions. They are all horrible, and we are all doing what we think is best for our baby. And what is best could change. We have learned to have more patience when trying to reach a decision. We are very aware that more difficult decisions are likely to come our way, but there is no reason to stress over them now. We just pray that God will continue to guide us along his path he has chosen for us and Leo.
With treatment, quality of life and life expectancy can be prolonged. We do not know how long or have research documented statistics, but there are some individuals with Type 1 are in their teens.