“If I were to share any words of advice, it would be to let your own experience, rather than a medical label, determine what your life’s limitations and potentials are going to be. Build on your personal strengths, determination and faith — or encourage your child to do so.” Jerry Ferro – Person living with SMA http://mda.org/disease/spinal-muscular-atrophy/living-with
The quote above captures the amazing courage, strength and persistence that is so common among children, teens and adults who live with Spinal Muscular Atrophy (SMA) and the family and professional caregivers who support them. To celebrate National Spinal Muscular Atrophy Awareness Month, I decided to review recent research, social media posts, and advocacy sites to better understand core drivers for quality of life and positive outcomes for people living with SMA and their family caregivers.
About Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy (SMA) refers to a group of genetic conditions that cause muscle weakness and atrophy in children and adults. “Atrophy” means that the mass and size of muscles is reduced. This can also be described as muscle “wasting.” Motor nerves in the spinal cord control the muscles that are used for breathing, crawling, walking, head and neck control, and swallowing. With SMA, damaged motor nerves cause muscles to weaken and atrophy.
SMA Type I – Also called Werdnig-Hoffmann Disease
Symptoms begin: within months of birth
Symptoms – A child struggles to:
- sit without support
- eat and swallow
SMA Type II – Also called Juvenile, Intermediate or Chronic SMA
Symptoms begin: between 6 and 18 months after birth.
Symptoms – A child can usually sit without support and may be able to stand or walk with help. A child struggles to:
- crawl or walk on their own
- breathe on their own
SMA Type III – Also called Wolhlfart-Kugelberg-Welander disease or mild SMA
Symptoms begin: after 18 months of age or as late as adolescence. Symptoms often progress into adulthood.
Symptoms – Children can stand alone and walk, but may struggle with:
- getting up from a sitting position
- tremor in fingers
- respiratory infections
Children with SMA Type III usually remain mobile well into adulthood.
It is important to note that SMA does not affect intelligence. People with SMA are very much aware of their condition and how it is impacting their lives and the lives of others.
In 2007, the Spinal Muscular Atrophy Standard of Care Committee developed the first consensus guideline for SMA diagnosis and treatment. SMA Advocates for families have developed a Family Guide to help clients and families to understand and advocate for best practice treatment. To learn more, click here: http://mda.org/publications/spinal-muscular-atrophy-care-guidelines
SMA clinical trials can also be found at: http://clinicaltrials.gov/ct2/results?term=spinal+muscular+atrophy&Search=Search
A Strong Desire for Independence
The inspiring opening quote from Jerry Ferro captures a core insight that has surfaced throughout my research – people living with SMA and their parents / family caregivers have an unrelenting desire to move forward, remain independent, enjoy life / school / work / hobbies and reach their full potential.
A common concern for people with SMA and their families is how to balance the desire to stay active / mobile with concerns about falls and injury. Some adolescents and adults also express fear that they will not be able to get up after falling. These are real concerns that need to be discussed.
The good news is that there are many innovative tools and resources that can help people with SMA to adjust to symptoms and fight back. One innovative approach is aquatic therapy, which has been shown to improve outcomes while reducing fall risk and anxiety. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260050/pdf/nihms346277.pdf
SMA “Move Forward” Action Plan and Toolkit
SMA researchers and advocacy leaders stress the importance of planning for today and the future. The following “Move Forward” Action Plan and Toolkit can help. Share this Action Plan with your care team and ask if there are other things you can do to fight SMA.
- Surround yourself with an expert SMA care team. Your team should include a:
- Primary Care Provider
- Nurse/Nurse practitioner
- Social worker
- Intensivist (An intensive care doctor)
- Genetic counselor
- Physical therapist
- Occupational therapist
- Speech therapist
- Click here for a directory of expert SMA healthcare providers near you
- Develop your Action Plan. Effective treatment approaches can include:
- Physical and Occupational Therapy:
- Eating healthy foods:
- Adaptive equipment:
- Home Care and Modification:
- Assistive Technology
- Peer-to-Peer Learning and Spinal Muscular Atrophy Support. The following links can help you to connect with other people who are living with SMA.
- Discussion Boards:
- Mentoring Programs
- Counseling – coping with emotions
- Funding sources
Tools and Resources for Healthcare Providers
We also want to recognize healthcare providers who provide expert care and support for those living with SMA. See the links below for innovative professional SMA tools and resources. FightSMA offers a tremendous directory of additional tools and resources for people living with SMA, family caregivers and healthcare providers- http://www.fightsma.org/sma-guidebook/spinal-muscular-atrophy-resources-publications. Links to other tools are listed below.
- http://www.apta.org/search.aspx?q=spinal muscular atrophy
It is common to feel helpless when living with a chronic condition like SMA. Advocacy organizations offer a great opportunity to fight back through research, donations, volunteerism, special events, and public policy. The following organizations fight every day for people living with SMA. Get involved!
We hope that this blog validates the many challenges faced by people living with SMA. We also hope that the tools and resources shared here play some role in improving quality of life for all who fight SMA every day.
For more information, please review our Spinal Muscular Atrophy Resources.