SMA is an inherited disease in which the children are not able to build muscle effectively.
This lack of muscle growth will most often affect crawling, walking, head control, as well as swallowing. As the disease progresses it typically affects breathing, swallowing, and coughing.
August is SMA awareness month and we are often asked what we want people to be aware of in regards to SMA. This blog could be 20 times longer but it encompasses the basics we would like everyone to know. It’s not that a person needs to be an expert but if the need arises, having read this information may make a difference.
First – We want people to know the disease exists. SMA = Spinal Muscular Atrophy.
– Most people have never heard of Spinal Muscular Atrophy, including medical professionals (We certainly had not). We want everyone to have heard of the disease. When I say “Spinal Muscular Atrophy” I want people to say “I’ve heard of that” rather than “Gesundheit” because they think I just sneezed.
In order to get people’s attention we must tell them how severe the disease is
– #1 Genetic killer of kids under 2
– 90% of the kids diagnosed with SMA Type 1 don’t live to see their second birthday
Most people have heard of ALS since the Ice Bucket Challenge a couple of years ago, well, the symptoms of SMA are VERY similar to ALS but SMA affects babies instead of adults.
Second – Symptoms and Diagnosis
There are 4 main types of SMA with Type 1 being the most severe. As a general rule the type is dictated by age of onset and furthest milestone reached. The other 3 types would have similar symptoms but less severe.
These are symptoms for a type 1 (Usually diagnosed between 0-6 mnths of age):
– Muscle weakness, limpness in the arms and legs. “floppy baby”
– Most type 1s will never sit on their own and won’t be able to hold their head up
– A weak cry, cough, and swallow
– Their belly will be very active during breathing
– The chest will be narrow and the belly rounded giving the torso a pear shape
– Most will develop a frog-leg position when lying flat on their back
– The tongue often twitches
These are several symptoms but the child may have all or only a few of these.
Third – You can be tested to see if you are a carrier of the disease.
-1 in 40 people carry the gene that causes SMA.
– If you are considering having children it is advisable to be tested. Knowledge is power.
– If anyone in your family is a carrier of SMA (even second or third cousins) your chances of being a carrier increase. If you have a first cousin that is a carrier, your odds increase to 1 in 8. (We are carriers so I hope our family members are paying attention.)
Two carriers having a child present a 25% chance of the child being affected by SMA.
Fourth – HOPE ENDURES
-Newly diagnosed families NEED to know that there are options of care that can extend the child’s life. Despite the staggering statistics there are care options that can (not always) extend the life of even the most severe cases. Our son Jadon is considered a weak type 1 and he turned SEVEN years old this year. That is over three times the prognosis.
This care relies on the help of many machines and a specialized diet. These options may not be right for every family but every family needs to know they exist. Doctors definitely need to know these options exist and offer them to newly diagnosed families. Not just tell the family there is nothing that can be done. Not tell them “Just take your child home and love them.”
Fifth – There is a lot of very promising research.
On August 1, 2016, just days ago a press release stated the following:
|Biogen and Ionis Pharmaceuticals Report Nusinersen Meets Primary Endpoint at Interim Analysis of Phase 3 ENDEAR Study in Infantile-Onset Spinal Muscular Atrophy|
|— Biogen Intends to File Marketing Applications for Nusinersen with Regulatory Authorities in the Coming Months —
— Biogen Exercises Option to Develop and Commercialize Nusinersen Globally —
If Nusinersen goes to market it will be the first treatment for SMA.
There are also other treatments/cures in late phases of human clinical trial.
There is valid HOPE to cure this disease.
Sixth– Newborn Screening
– All newborns are tested for several diseases but SMA currently is not one of them. It should be included and there are many people diligently working to make this possible. It would be beneficial to know an SMA diagnosis as early as possible. Once a cure is discovered this becomes even more critical.
These are the very basics of SMA Awareness.
Check out our Facebook page the entire month of August as we provide more insights into the SMA world. And please, if you have questions, don’t hesitate to ask:www.facebook.com/JadonsHopeFoundation or email us at: JadonsHope@sbcglobal.net.
Learn more here: http://jadonshope.org/index.php?page=learn-about-sma
Newly diagnosed: http://jadonshope.org/index.php?page=newly-diagnosed