What is SMA
Information of SMA Disease
How to take care of patients
Our first reaction when the doctors told us we could take our child home was "Home?"! How could they expect us to go home with a child whom we had brought in "well", and now they are sending us home with a child who has a life-threatening disease? It is hard to accept that with so many modern medical advances there are currently no drug therapies or surgery to cure the Spinal Muscular Atrophy diseases.
Type I ( and some Type II )
While most children diagnosed with Type I are still infants, there are a myriad of things that can be done to assist in their cognitive and emotional health.
Using balloons and feathers as toys makes for wonderful stimulation and allows them that feeling of independence and accomplishment. Reaching games are a form of physical therapy that can be very helpful. Instructions in range of motion and other physical therapist are important no matter how young the child. Your physical therapist can also suggest ideal seating systems that will be most helpful in the comfort and maximum mobility of your child.
Getting in touch with a respiratory therapist is very important especially so you can be instructed in CPT (chest physiotherapy). CPT is a means of clearing the lungs of accumulated mucus, by using a series of procedures to assist in coughing. Saliva can settle in the nasopharynx causing a faint gurgling sound. Often the secretions or mucus cannot be cleared with these noninvasive measures and the use of a suction machine may be necessary. Blowing raspberries, bubbles, or anything that encourages respiratory strength.
Water therapy can also be very helpful as the buoyancy of the water allows movement of the arms and legs that may otherwise not be there. Be sure that the water temperature is at least 90° and that the child's head does not go under the water or into the water. You must watch so that the child has no possibility of aspirating (getting fluid into their lungs).
Aspirating can also become a problem with children when eating. Sometimes the child may even aspirate his/her own secretions.
As this becomes a problem, loss of weight may also be noted and assistive feeding may be necessary. Two possible options are:
Naso Gastric Tube: which is a tube inserted through the nose which goes directly into the stomach.
Gastric Tube: is a more permanent option. It is a surgical procedure to insert a tube or button directly into the stomach.
Although many doctors may try to persuade you of the necessity of a general anesthetic, this procedure can be done with a local anesthetic and an intravenous (IV) sedation drip.
It will be necessary to monitor respiratory distress by measuring the level of oxygen and to determine if oxygen from an outside source is necessary. The tool used to measure this is called a Biox-oximeter. This is a small clip which is usually placed on the patients index finger to determine the oxygen saturation.
To help the child with breathing, a ventilator can be used. There are several possibilities when considering ventilation.
1. Negative Pressure Ventilation
Negative Pressure Ventilation can be achieved by placing the patient in a Port-A-Lung. This is a much smaller version of the old fashioned Iron Lung. It works by using external ventilation to create negative pressure to set the rate of breathing.
2. Bi-Pap (Biphasic Positive Airway Pressure)
This ventilation unit uses a nasal mask with a cap, which fits over the head to hold it in place over the nose. A small hose is attached that feeds oxygen. This unit allows maximum inspiration and expiration. A small alarm is also attached to detect for leaks.
For long term ventilation, a tracheotomy is usually performed. There may however be other options available. Consult your physicians and respiratory therapists or contact FAMILIES OF SMA for literature.
It is important to understand your rights when it comes to making life-sustaining decisions for your child. Be sure that both parents discuss their feelings about this very delicate topic. It is a decision that cannot be made lightly and all options should be covered. Talking to a counselor in the department of social services at your hospital may be helpful. Once your decision has been reached, be sure that you put it in writing, and that all necessary medical personal and family members are aware of your wishes. This is your decision, one you have reached with great care, and anguish, and under no circumstances should you allow others to judge you or place their values upon you.
You are never alone. Families of SMA is always just a phone call away.
Type II ( and some Type III)
Raising a child with SMA should be no different than raising a child who is not affected. Do as many things as possible that are age appropriate. Many times this means making adaptations. It is very important that children with SMA are assisted in reaching their utmost potential. This includes getting the child upright at the earliest possible age.
Standing is important in the development of all children. It allows for better respiratory function, greater bowel function, and encourages greater mobility. Getting your child in an upright child position can sometimes take pushing on the part of the parent to encourage the physician to write a prescription for standing aids. There are several options to consider when choosing the appropriate standing aid. Among them are a standing frame and a parapodium. For added mobility and independence, a standing wheelchair is ideal. A child as young as 13 months can use this. Bracing is also an option. Reciprocating Gait Orthosis (RGO's) have been found to work for children with Type II, and these children have been able to take some steps.
The use of a light weight manual wheelchair can be an exciting addition for the SMA child. It can provide mobility, independence and a taste of adventure, while still allowing them to use some of their own strength. However, it should be understood that for true independence and mobility, a power wheelchair is necessary.
Scoliosis (curvature of the spine) occurs at some point in most children with SMA Type I and II and some Type III. The degree of the scoliosis will be a factor in deciding how to treat it. Because scoliosis can restrict breathing and pulmonary function, necessary precautions should be taken early. Among these options are custom seating systems, seating aids and a body jacket. Spinal fusion may need to be considered.
If your child is having continuous upper respiratory infections you may want to inquire about an IPPB (Intermitten Positive Pressure Breathing) machine. The IPPB may assist with respiratory function and help prevent the lungs from becoming stiff. IPPB is also helpful in eliminating secretions. Using an Incentive Spirometer daily allows you to measure lung capacity. When volumes are low, it usually indicates an increase in mucus and/or a cold developing.
Diet as with any growing child is very important. Your child's diet deserves careful consideration. Excessive weight can make mobility more difficult. Contact with your physician and a nutritionist is very important in this aspect of maintenance.
Because children with Type III walk at some point unassisted, it is important that they are monitored so that any difficulty may be detected at an early stage. The use of a walker and bracing may become necessary. The use of a light weight manual wheelchair may be considered for distance as well as an electric scooter or other motorized chair. Physical and occupational therapists should be consulted. Diet should also be watched.
Type IV (Adult Onset)
As an adult, you are aware of your weaknesses and limitations. You should work together with your physician, physical and occupational therapist to work out the best possible program for you. As with Types I, II and III, diet and nutrition are an important factor in your well being. It is important to keep your body and mind healthy.
The diagnosis of Spinal Muscular Atrophy can be a frightening prospect, but it can also be looked on as a gift. Unfortunately in life, it seems to take something tragic or earth shattering to make us open our eyes to the joys of today. Having a child with SMA or being an adult with SMA gives life a different perspective. We become more aware of the simple pleasures, the seasons, the smiles, the tears.。
We become grateful for the simple things, getting a glass of water, taking a step, breathing.
We learn to accept diversity and challenges with a new found enthusiasm and drive and we learn how many people there are who truly care.