SMA – Every Parent’s Worse Nightmare
Imagine that you have a beautiful baby…a few months later her doctor tells you…
“Your child will not live past the age of two, take her home and love her” “Without 24 hour breathing support your child may not live to see her first birthday.” There is no treatment or Cure”
Before your very eyes your baby’s muscles start to deteriorate, she can no longer swallow so she needs a feeding tube, she doesn’t have enough strength to hold her head up, and she can’t sit, crawl, walk or even breathe on her own. Your precious baby has to endure long hospital stays, procedures and treatments that make your heart melt.
Your world is suddenly turned upside down by Spinal Muscular Atrophy (SMA) – a disease you’ve never even heard of…
Pen and paper, nor the human vocabulary can describe the anguish that SMA Children and their families face on a daily basis. SMA is the #1 Genetic Killer of infants under the age of two; 1 in 40 people UNKNOWINGLY carry the gene that causes SMA yet this disease has not gotten the attention it deserves – but, with your help we will change that.
It’s been five years since we lost our precious Hannah-Rose to SMA at 11 months of age; yet we cannot forget what she taught us. She left us with a mission and a mandate to shed a light on this horrific disease, to help those that are currently battling SMA, and to make the journey better for newly diagnosed families.
Many of Hannah’s friends still battle SMA everyday. They are so beautiful, intelligent and fill their homes with LOVE & JOY; they inspire everyone around them. Their stories need to be heard; so, in honor of all those whose lives have been touched by SMA and in an effort to raise SMA Awareness here are some answers to some questions (from our family’s perspective) about this #1 genetic killer of infants under the age of two:
What is SMA? Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder” SMA affects muscles throughout the body, although the proximal muscles are often most severely affected. Weakness in the legs is generally greater than in the arms. Involvement of respiratory muscles can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and children with SMA are unusually bright and sociable. Children are generally grouped into one of four categories, based on certain key motor function milestones.
How common is SMA? Spinal Muscular Atrophy (SMA) affects approximately 1 in every 6,000 births or 21,667 babies annually. 1 in 40 people unknowingly carry the gene responsible for SMA. There are five Types of SMA:
SMAType 0 Type 0 is the most severe form of SMA. Symptoms can often be seen in the later stages of pregnancy as the fetus is less active than expected. Once born, the infant will have little ability to move and may not be able to breathe and swallow independently. Infants with type 0 SMA often die before the age of 6 months. Doctors believe that some cases of SIDs is actually SMA undiagnosed.
SMA Type I – Also Called Werdnig-Hoffmann Disease – 60% of SMA Diagnosis are Type 1. This is what our Hannah had.
Type I is another severe form of the disease. Symptoms develop within the first six months of life. Infants with SMA type I often have trouble breathing and swallowing. Their muscle tone and strength are extremely poor; they cannot sit up without support and will not meet any motor skills milestones. Their intellect, however, is normal. Most children with type I SMA will die before the age of two.
SMA Type II – Also Called Dubowitz Disease
In children with type II SMA, muscle weakness becomes apparent between the ages of 6 and 12 months. When placed in a sitting position, people with type II SMA can usually maintain the position without support, however they often lose this ability by their mid-teens. People with SMA type II cannot stand or walk without assistance. They have poor muscle tone and strength and their fingers usually tremble uncontrollably. Their intelligence is typically normal or above average.
SMA Type III – Also Called Kugelberg-Welander Disease
Type III SMA is a milder form of the disease. Its symptoms begin sometime between the age of one year and early adulthood. As young children, they may fall repeatedly and have trouble walking down stairs. While their muscles are weaker than normal, people with type III SMA can usually stand and walk without assistance, although they may lose this ability later in life. The legs are often more severely affected than the arms.
SMA Type IV
Type IV is the mildest form of spinal muscular atrophy. With this form of the disease, muscle weakness does not begin until one’s 20s or 30s, or even later. This weakness is often mild to moderate, and the person can still walk and move independently. These individuals may experience mild to moderate tremors and/or twitching. The disease typically does not diminish lifespan. With all types of SMA, there can be difficulties in sleeping and gaining weight. Frequent pneumonia is common. A curvature of the spine and stiff joints are also common. Women with milder forms the disease have been known to give birth to healthy children, although many of the pregnancies had complications.The disease is caused by a shortage in SMN protein, which helps preserve motor neurons. Without it, the neurons cannot pass messages from the brain to the muscles of the body.
How did you learn what afflicted Hannah? Hannah appeared to be perfectly healthy and passed all her newborn screenings. At four months of age she started to choke while drinking her bottles, she seemed to be growing weaker, was not able to hold her head up or move her legs. She was susceptible to colds that led to life threatening respiratory infections.
Is SMA always fatal? Current statistics show that the average lifespan of a child with SMA Type 1, not put on permanent ventilation or “life support” is only 8 months of age, with 80% dying by the age of one, and the others by age two unless permanently ventilated via Trach or Bipap.
Is there anything parents can do to treat it or improve life? Most parents are aggressive about their baby’s care and seek to extend life as long as possible. Type 1 infants require a feeding tube, suction machine, breathing support such as bi-pap or trachea and ventilator, a cough machine, pulse ox, nebulizers and a montage of medical supplies and medications. Parents of SMA children are truly heroes in every sense of the word!
Is a cure in sight? YES! There are several SMA Clinical trials going on now; but, the most promising is the Gene Therapy Program at Nationwide Children’s Hospital in Ohio. Researcher’s there cured laboratory animals of SMA Type 1 and have recently gone into human clinical trial. If all goes well, the cure should get out to the public in two years as the human clinical process takes 2 years.
What do you hope to accomplish with “HOPE for SMA”? We started a nonprofit charity called HOPE for SMA – We exists to FIND, GET and GIVE HOPE to families that are battling this disease by raising awareness, funding and support and ensure that future SMA babies have an opportunity to survive and thrive! For more information on our cause, please visit www.hopeforsma.org.
YOU CAN HELP US SPREAD AWARENESS BY SHARING THIS POST. IT IS OUR SINCERE DESIRE TO ALERT OUR COMMUNITIES ABOUT SMA SO OTHER FAMILIES WILL NOT BE BLINDSIDED BY IT.
In our next post we will share the earliest symptoms of SMA, how to get carrier testing and how to live with HOPE in the face of dealing with a deadly disease. There is always HOPE!
Posted by Julie Prendiz, Hannah-Rose’s Grammie