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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Also called HAE, hereditary angioedema is a genetic disorder that causes episodes of severe swelling. These episodes commonly involve swelling of the hands, feet, face, genitals, the intestinal wall, and the airways.

The majority of HAE attacks are unpredictable&mdash;they do not follow a pattern and, most of the time, are not preceded by an identifiable trigger. HAE episodes vary from person to person, and from episode to episode.

There is no cure for HAE and preventing episodes is a key focus of treatment. Preventive therapies&mdash;medications that prevent attacks and lessen the severity of symptoms&mdash;are something that anyone with HAE should discuss with a healthcare provider.

In addition to preventive medications, it is also important to avoid triggers&mdash;things that can cause an HAE attack.

One known trigger is stress. Stress is defined as a factor that causes tension in the mind or body. Stress can be physical, or it can be caused by mental and emotional factors. Both physical and mental/emotional stress can trigger an HAE attack.

Physical stress 
Events that put the body under physical stress can trigger an HAE episode. This includes physical exertion, injuries, and infections.

Physical exertion can be the result of vigorous exercise like heavy weightlifting, or a chore like shoveling snow.

Patients have also reported swelling in the hands and feet following activities like prolonged writing, typing, and standing.

Infections and illnesses have also been reported as HAE episode triggers, and the World Allergy Organization (WAO) recommends receiving an annual influenza vaccine, commonly known as a flu shot, as part of a management plan for HAE.

Trauma and injuries&mdash;for example, pinching your fingers in a door or cutting a finger while chopping vegetables&mdash;have also been documented to trigger HAE episodes.

Medical procedures that cause trauma, such as dental work or surgery, can also be triggers. People with HAE are typically prescribed a preventive therapy before medical procedures like dental work and surgery.

Mental and emotional stress 
Mental and emotional stress can also act as catalysts HAE episodes. In one study, published by Orphanet Journal of Rare Diseases, mental stress was named as the leading cause of HAE attacks that affected the abdomen.

There are many causes of mental and emotional stress. Work. Relationships. Family. Finances. School. Both good and bad events can be a source of mental stress. Losing a job is stressful, but so is starting a new job or getting a promotion. A breakup can be stressful, but so can planning a wedding.

HAE is also a condition that can cause significant amounts of stress in a person&rsquo;s life&mdash;the unpredictable nature of the condition, as well as the temporary debilitating nature of attacks, can make a person feel like they do not have control over their life.

Reducing stress 
There are a number of steps you can take to reduce and manage stress, whatever the cause. These include:

<ul>
	<li>Finding support from others. Having a friend or loved one to talk to about what you are experiencing can help you manage stress. You can also try finding a support group for people with HAE.</li>
	<li>Practicing self-care. Eating well, staying physically active, maintaining a routine, and making time for activities that are important to you are all things that can help you feel less stressed and more in control.</li>
	<li>Practicing mindfulness. Activities like yoga and meditation have been shown to help manage stress.</li>
</ul>

Working with a healthcare provider should be the priority for anyone managing HAE. Keep regular appointments with a healthcare provider experienced in treating HAE to discuss symptoms, episodes, treatment, stress, preparing for emergencies, and anything else related to managing the condition.

How Stress Affects Hereditary Angioedema

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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