Below are some the most frequent questions and problems that we are seeing within the Type 1 community. We have compiled a guide based on the evidence from the newly Published Standards of Care, AA diet website and other documents or protocols that are used within the community.
*** This is not a substitute for medical advice. All information is gathered from recent documents and you should always consult with your team ***
- You should not have oxygen.
Children / adults with SMA do not have a problem oxygenating their bodies. SMA causes weakness of the inspiratory and expiratory muscles, therefore both those muscles need to be supported. Oxygen does not do this. Oxygen will make their oxygen saturation good but it will be covering up a more serious problem. Oxygen when used by itself leads to respiratory weakness and sometimes dependency.
- You should not use Cpap (continious pressure)
SMA causes weakness of the inspiratory and expiratory muscles, therefore both those muscles need to be supported. Cpap does not provide the 2 pressures hence it does not fully support the persons with SMA.
- You need Bipap (Bi – level pressure)
Bipap is used in SMA as it provides both the inspiratory and expiratory pressure. This allows the person to have full respiratory support. Using Bipap has many benefits for a person with SMA:
- Greater respiratory strength.
- Allows them to rest therefore having more energy throughout the course of the day.
- Help keeps the lungs inflated.
- Supports the person through illnesses.
- Helps to provide the chest with sufficient chest rise to help prevent the classic “bell shaped” chest.
- Can help stop night sweating
It is important to remember that Spinraza and other drugs are a treatment, they are not a
cure. Children with Type 1 SMA still require respiratory support to maintain full health and it is better to be proactive to prevent a respiratory problem than it is to reactive.
- You need Cough assist.
Cough assist is a device which helps to simulate a cough. People with SMA can have trouble coughing, especially type 1s. When unwell it can be very tiring to cough so the machine supports this by coughing for you, clearing your lungs. It is used as part of daily airway clearance to help maintain healthy lungs. This is used as young as 3 months old In SMA children.
- You need a suction machine
You will need a suction machine to be able to do effective airway clearance during chest physiotherapy. They are one of the most important pieces of equipment during illness as extra secretions are produced and they will need to have help to keep them clear and the secretions from going to their chest.
- You need to do chest Physiotherapy
This should be done at least morning and night when well. This is important to help clear your child and keep their chest healthy and secretions from settling in their lungs. When unwell this should be done at least every 4 hours during waking hours and sometimes overnight depending on the severity of the illness. Your respiratory physio will be able to teach you chest percussions.
- Morphine should not be used.
Morphine is a opioid, this means that it suppresses the respiratory drive. When a person is intubated this can be used for a short period of time but the person should always be off morphine at least 24 hours prior to extubation. This should never be used on a person who is using Bipap. When weakness is already present in the respiratory drive it is dangerous to suppress it further. Morphine is used for surgeries in the stronger types.
- Extubation protocols should be followed.
When a person is extubated too early there is a risk that the person will go into respiratory failure and need to be intubated again. Extubation protocols are there to prevent this from happening by ensuring that the person is 100% ready to be extubated. The protocols are as follows:
- Secretions baseline .
- Chest X-ray baseline.
- No respiratory suppressants for at least 24 hours.
- No illness present.
- In room air (no oxygen)
They should also be extubated to Bipap (NIV), on a nasal mask to maintain respiratory support. Extubation should be performed laying down with a respiratory physio present to do airway clearance techniques after the tube is removed.
- You should not fast more than 4- 6 hours.
Taken from the Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Spinal muscular atrophy patients are particularly vulnerable to catabolic and fasting states. Patients with severe muscle wasting from any disorder, including spinal muscular atrophy, are more likely to develop hypoglycaemia in the setting of fasting. A number of case series and individual case reports have documented secondary mitochondrial dysfunction and abnormalities of mitochondrial fatty acid oxidation in spinal muscular atrophy patients. Significant abnormalities are most likely in non – sitters and sitters, increasing their vulnerability for metabolic decompensation in the setting of a catabolic state. Thus, it is necessary to avoid prolonged fasting, particularly in the setting of acute illness, in all spinal muscular atrophy patients. Nutritional intake should be optimised to meet full caloric needs within 4 to 6 hours after an admission for acute illness, via enteral feeding, parenteral feeding, or a combined approach as necessary. Prompt postoperative caloric supplementation is recommended to avoid muscle catabolism, particularly in a child with reduced fat store. If enteral intake is not imminent, then intravenous caloric feeding should be considered. ( Taken from AA diet website).
- Type 1s should NEVER use a Full face mask
A full face mask covers the nose and the mouth of the child. These are used to obtain maximum pressures if there is a respiratory problem. These should never be used on a child with Type 1 because there is a very big risk of aspiration. A type 1 child has a weakened swallow putting the child at risk of the secretions going into the lungs if they can not expel these via their mouths. Using a full face mask can cause collapse of the lungs through secretions entering them. The seal of the mask would have to be broken constantly for suctioning. Also if the child were to vomit there is a very big risk of it being blown back down. A mask that covers ONLY the nose of the child should be used to keep the child safe.
- Dairy is a no go in Type 1s.
More and more research is being done into the dietary needs of a Type 1 child. Evidence shows that in most people (non SMA also) that diary produces the amount of mucus. This should be avoided in children with Type 1. There has been anecdotal evidence to show that Type 1 children maintain better strength when an Amino Acid formula is used instead of one that uses diary. Diary consists of long chain proteins, these take quite a lot of work for a child with SMA to digest hence using a Amino acids (short chain protein) more energy is conserved. High fat formulas have shown within the community to make children with Type 1 very weak and causes them to vomit.
- Saturation monitors should be used
Saturation monitors monitor your Childs oxygen levels and heart rate. They can be supplied by your local team but often parents are told that they do not need one. Although number watching is not advised and you should go by the whole clinical appearance of the child, they are also a very good tool to know what your Childs baseline numbers are. Overnight monitoring is very important as it allows the parents peace of mind when they are sleeping that if there were a problem they would be awakened by the alarms that you set. Also during illness it is highly important to monitor how your child is doing and coping with that illness.
- Spinal jackets are needed
Before the days of Spinraza, Type 1 children would hardly be able to sit upright due to the lack of muscles and the inability to manage their secretions. Now children with Type 1 are progressing with Spinraza and they are sitting up and using power chairs. It is highly important for a child with Type 1 to have a spinal jacket so they can sit upright and go in standers without compromising their spine. Scoliosis will be more common in Type 1 children more now than ever so using a a jacket will help to prevent that.
- Regular Physiotherapy and stretches should be performed
Stretches are very important and most parents will do these daily. They help to keep the joints flexible and reduce the risk of contracture’s . Your Physiotherapist can show you what needs to be done. Physiotherapy should be done at least once a week by yourself under the instructions of your team or by your child’s therapist. It is so important to remember that Spinraza Is a treatment and not a cure. You need to work on building your child’s strength up safely as without working with your child the progression seen will be minimal.