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

What is Tourette’s syndrome?

How to Help Others Understand the Challenges of AHP

Ask the Experts: Hereditary Angioedema Treatments

Will Genomics Lead to Designer Medication?

What Does Precision Medicine Mean?

What Is Epigenomics?

How Is Genomics Being Used to Classify Disease?

How Does Genomics Result in Better Treatment?

How Does Genomics Help Guide Precision Medicine?

Neurofibromatosis (NF) is a rare genetic disorder caused by mutations to tumor suppressing genes. The most common form of NF is neurofibromatosis type 1 (NF1). One of the characteristic manifestations of NF1 are benign nerve tumors called neurofibromas.

Plexiform neurofibromas are neurofibromas that involve multiple nerves. They are larger than typical neurofibromas&mdash;in some cases, very large&mdash;and can grow into surrounding connective tissues and skin folds. Plexiform neurofibromas often affect children and are sometimes present at birth. They can continue to grow throughout a person&rsquo;s life and can pose a significant risk to a person&rsquo;s health.

What causes pNFs? 
Plexiform neurofibromas are a possible outcome of having NF1, which is a genetic mutation that can be inherited or occur spontaneously. This genetic mutation impacts the body&rsquo;s ability to make a tumor suppressor protein that regulates the life/death cycle of cells. NF1 affects different people in different ways, and the severity of symptoms can vary from person to person. An estimated 30 percent of people with NF1 have one or more pNFs. This percentage may be higher because not all pNFs cause symptoms and some may go unnoticed.

What are the signs and symptoms of pNF? 
Plexiform neurofibromas are sometimes described as bulging and looking or feeling like a &ldquo;bag of worms&rdquo; beneath the skin. They can cause a range of symptoms, depending on where in the body they are located and the size.

What parts of the body can be impacted by pNFs? 
They can develop just about anywhere in the body&mdash;the eye socket, face, limbs, back, chest, abdomen, and groin are common locations.

What are the potential complications of pNF? 
These tumors can pose a serious risk to a person&rsquo;s health. When they grow large in size, pNFs can put pressure on surrounding structures in the body. This can disrupt the normal functioning of the body and its organs, causing pain and disability. PNFs that are located in the face or head can cause disfigurement. While benign, in some cases neurofibromas can become malignant, and pNFs are more likely to become malignant than smaller neurofibromas.

Even without the presence of a pNF, NF1 is associated with a number of complications, including abnormalities in physical and cognitive development, and an increased risk of other types of tumors.

What is the treatment for NF1 and pNF? 
There is no cure for NF1. Treatment for NF1 and pNF will depend on a number of factors including a patient&rsquo;s age and overall health, and the size and location of the tumor or tumors. Surgery to remove problematic tumors is used in many cases. Chemotherapy and radiation therapy are also used in some cases.

Monitoring the disease through regular appointments with a healthcare provider is an important aspect of treatment.&nbsp;At these appointments, talk to your family&#39;s healthcare provider about what treatment options are available. Because the nerve tumors caused by neurofibromatosis can cause pain, pain management is also a focus of treatment for many patients, and physical therapy and orthopedic devices may help improve mobility issues that have resulted from NF1 or pNF.



Sources: 
National Organization for Rare Disorders. &quot;Neurofibromatosis 1.&quot; 
Mayo Clinic. &quot;Peripheral nerve tumors.&quot; 
Tchernev G, Chokoeva AA, Patterson JW, Bakardzhiev I, Wollina U, Tana C. &quot;Plexiform Neurofibroma: A Case Report.&quot; Medicine (Baltimore) 2016. Vol. 95, No. 6. 
Mayo Clinic. &quot;Neurofibromatosis.&quot; 
Radiopaedia. &quot;Plexiform neurofibroma.&quot; 
Washington University Physicians Neurofibromatosis (NF) Center. &quot;Nerve Tumors.&quot; 
Children&#39;s National. &quot;Pediatric Plexiform Neurofibromas.&quot; 
Neurofibromatosis Therapeutic Acceleration Program (NTAP). &quot;NF1 and Plexiform Neurofibromas.&quot; 
Khajavi M, Khoshsirat S, Ahangarnazari L, Majdinasab N. &quot;A brief report of plexiform neurofibroma.&quot; Current Problems in Cancer, January 2019. Vol. 42, No. 2. 
National Institute of Neurological Disorder and Stroke. &quot;Neurofibromatosis Fact Sheet.&quot; 
Duke Health. &quot;Neurofibromatosis.&quot;

5 Answers About NF and Plexiform Neurofibromas

Why Use Human Cells for Trials Rather than Human Beings?

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. 
  

Dr. Emile Bacha - Why are some children born with congenital heart defects?

We are looking for abnormality, and then you match that abnormality with a condition, and likewise match that abnormality with a resolution that has the highest probability for success in medicine, since there is significant amount of waste in healthcare system. By being more targeted in your approach, you are less likely to encounter waste and more likely to have a positive outcome. 

Therefore understanding the genome and what's driving a particular condition is really what we are focused on. 
  

Genetic disorders and birth defects