Spinal muscular atrophy (SMA) is a disease that causes muscles to weaken and atrophy. There are different types, some of which are diagnosed at birth and some that are diagnosed later in life, but many people with the condition have it from a very young age.

SMA is a challenging condition to live with. It&rsquo;s also a challenging condition for caregivers. And caregiving can be especially challenging as a person with SMA transitions from childhood to adolescence to young adulthood.

If you find yourself struggling to keep up with your evolving role as a caregiver, the following strategies may help.

Keep up with change 
SMA is a lifelong condition, and the needs of a person with SMA will change over time. Likewise, a caregiver will find that their role will change&mdash;and sometimes change quickly. Being a freshman in high school and being a freshman in college are separated by only four or five years&mdash;but it is a period of rapid growth and development.

How do you keep up with change? Open lines of communication are important. While people with SMA have unique challenges and concerns, they also face the same challenges and concerns as any other young person. Don&rsquo;t lose sight of the normal experience of growing up. Recognize a person&rsquo;s needs, such as a greater need for privacy. Foster independence, such as encouraging a person to take a greater role in their own healthcare. Encourage good health, including exercise, eating well, and avoiding things like alcohol, smoking, and recreational drug use.

Also discuss your needs, and how to work together to support each other. For a young person living with SMA, being a source of support and encouragement for someone else can help foster a sense of independence.

And remember that you do not have to do this alone. Counselors, therapists, educators, and healthcare providers are there to help. And sometimes a young person may have an easier time talking to someone outside their family.

Recognize caregiver burnout 
Caregiving is not easy, and caregiver burnout is very real. Caregiver burnout refers to feeling exhausted physically, mentally, and emotionally. Some signs and symptoms of caregiver burnout include:

<ul>
	<li>Skipping meals</li>
	<li>Feeling hopeless, restless, or anxious</li>
	<li>Avoiding phone calls with friends or frequently cancelling plans</li>
	<li>Difficulty going to sleep or staying asleep</li>
	<li>Physical aches and pains</li>
	<li>Feeling resentment toward the person for whom you&rsquo;re caring</li>
	<li>Difficulty concentrating on tasks and chores</li>
</ul>

Remember, in order to provide the best care for someone else, you need to be taking care of yourself. Because things like nutrition and overall health are important to someone living with SMA, by taking care of yourself, you will be setting a good example.

Be proactive against stress 
It&rsquo;s important to recognize when you&rsquo;re stressed and need a break. It&rsquo;s even more beneficial to be proactive about reducing stress. Some ways to counteract stress include:

<ul>
	<li>Taking a day off to do something you enjoy&mdash;going for a hike, going to see a movie, meeting up with friends.</li>
	<li>Indulging every now and then, whether it is a dessert or a day at a spa.</li>
	<li>Working with a mental health professional&mdash;do not underestimate how helpful counseling and therapy can be.</li>
	<li>Getting enough sleep&mdash;consider turning off electronics an hour before bedtime and going to sleep at the same time every night.</li>
	<li>Staying organized and scheduling time to relax each day.</li>
	<li>Joining a support group for caregivers, where you can connect with other people who understand the experience.</li>
	<li>Also consider hiring a professional caregiver to handle some of the day-to-day responsibilities&mdash;and give you back some time and energy. There are apps and services that can connect you with professional caregivers (CareLinx by Sharecare is one example).</li>
</ul>

Remember that you are not superhuman. Ask other family members for help, and don&rsquo;t be afraid to reach out to healthcare providers if you need guidance. Remember, you won&rsquo;t be able to care for your loved one if you don&rsquo;t take care of yourself.

Caregiving for A Young Adult with SMA

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Spinal muscular atrophy (SMA) is the name given to a collection of rare genetic disorders that affect motor neurons. Motor neurons are located in the brain stem and spinal cord and enable the nervous system to communicate with muscles.

In order to remain healthy and function normally, motor neurons depend on a protein called survival motor neuron (SMN) protein. When a person has SMA, levels of this protein are too low, which disrupts communication between the nervous system and muscles. When muscles do not receive signals, muscle tissue weakens, shrinks, and atrophies.

SMA typically affects muscles in the upper back, upper arms, upper legs, and trunk, though it can affect muscles that control things like breathing and swallowing.

There is no cure for spinal muscular atrophy&mdash;SMA is a lifelong condition that requires ongoing management. Treatment focuses on managing symptoms, preventing complications, and slowing the progression of muscular atrophy.

Below is a look at how people with SMA and their healthcare providers approach treatment.

Individualized treatment 
There are different types of SMA, most of which begin in childhood (though some occur later in life). The specific symptoms, the severity of those symptoms, and the progression of the disorder are different for each person. Accordingly, treatment varies from person to person, taking into account individual symptoms, needs, and goals.

Medications 
Physicians have been documenting cases of SMA since the 1890s and identified the genetic mutations that cause SMA in the 1990s. However, the first medication to treat SMA did not become available until 2016. This medication was administered with an injection into the fluid around the spinal cord and works by increasing the production of the SMN protein.

Since the first medication because available, several more medications have become available. These include a gene therapy that is administered to children under the age of 2 who have infantile-onset SMA and an oral medication that also works by increasing SMN protein production.

Additional treatment options are being researched and may become available in the future. You may want to talk to your healthcare providers about the possibility of joining a clinical trial.

Physical therapy and occupational therapy 
Physical activity is an important part of SMA. Physical therapy and occupational therapy can help slow the progression of the disorder and improve the quality of life for people with SMA.

Physical therapy or physiotherapy usually focuses on strengthening and stretching exercises designed to help improve muscle function, mobility, and circulation. Occupational therapy may focus on the use of assistive devices (such as braces, splits, or standers), changes around the home, or changes to how a person approaches a certain task, with a goal of making everyday life easier.

People with SMA may work with their healthcare providers to identify and address challenges, such as difficulties with things like speech, breathing, swallowing, and nutrition.

Remember, living with SMA is a different experience for everyone. If you or a loved one is living with SMA, your best sources of information about the condition and treatment options are your healthcare providers.

Medically reviewed in April 2021.

Sources: 
National Institute of Neurological Disorders and Stroke. &quot;Spinal Muscular Atrophy Fact Sheet.&quot; 
Muscular Dystrophy Association. &quot;Spinal Muscular Atrophy.&quot; 
MedlinePlus. &quot;Spinal Muscular Atrophy.&quot; 
Helena Chaytow, Yu-Ting Huang, Thomas H. Gillingwater, and Kiterie M. E. Faller. &quot;The role of survival motor neuron protein (SMN) in protein homeostasis.&quot; Cellular and Molecular Life Sciences, 2018. Vol. 75, No. 21. 
Cleveland Clinic. &quot;Spinal Muscular Atrophy (SMA).&quot; 
Stephen J. Kolb and John T. Kissel. &quot;Spinal Muscular Atrophy: A Timely Review.&quot; Archives of Neurology, 2011. Vol. 68, No. 8. 
Laura Joszt. &quot;Improved Treatment Options for SMA Present New Opportunities, Challenges.&quot; AJMC. September 25, 2020. 
Drugs.com. &quot;Medications for Spinal Muscular Atrophy.&quot; 
National Library of Medicine. &quot;Risdiplam.&quot; 
U.S. Food &amp; Drug Administration. &quot;FDA Approves Oral Treatment for Spinal Muscular Atrophy.&quot; August 7, 2020. 
Columbia University Department of Neurology Spinal Muscular Atrophy Clinical Research Center. &quot;Living with SMA.&quot; 
SMA News Today. &quot;Physiotherapy for Spinal Muscular Atrophy.&quot; 
My SMA Team. &quot;Occupational Therapy for SMA.&quot; 
Northwestern Medicine. &quot;Treatments for Spinal Muscular Atrophy.&quot; 
SMA News Today. &quot;Speech Therapy in Spinal Muscular Atrophy.&quot; 
SMA News Today. &quot;Spinal Muscular Atrophy: Chewing and Swallowing Problems.&quot; 
Spinal Muscular Atrophy UK. &quot;Diet and Spinal Muscular Atrophy.&quot;

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So that's a question I get a lot by anxious parents who are typically expecting and know that their unborn child has a congenital heart defect from an echocardiogram that was obtained during routine pregnancy examination. It's very worrisome to them of course, a lot of anxiety and a lot of guilt, what I typically say to them is simply, you have been unlucky. 

There's no known cause for congenital heart defects or for the genetic background of congenital heart effect, we don't really know which genes have been switched on or off, that cause congenital heart defect, there is a lot of research ongoing and it's not the glass of wine that you have had during your pregnancy, it's not the cigarette you've had during pregnancy, although you should not smoke again, but it is not really these factors that some woman may have had a glass of wine before even knowing she was pregnant, that so, it's not that. 

It is again an unknown factor, and it's just as I said bad luck. The chances of having a child with congenital heart disease is about 1%, for, 0.8% to be precise for the general population. 
  

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