During what turned out to be her last week of life, Olivia was diagnosed with congenital Spinal Muscular Atrophy (SMA).

Congenital Spinal Muscular Atrophy is the rarest form of SMA. It’s often not even referenced in SMA literature or advocacy sites, and it’s prognosis is even worse than SMA Type 1. To complicate matters for Olivia and our family, she had what is referred to as “non-5q” SMA. While similar in it’s clinical picture, Olivia’s condition was not caused by a deletion or mutation in the SMN1 gene. This made diagnosing her condition more difficult, and will certainly play a factor in later family planning.

But ultimately, no matter how you arrive there, a diagnosis of SMA is a diagnosis of SMA, and any type of SMA is heartbreaking.

What is SMA?

Spinal muscular atrophy (SMA) is a disease that affects the motor nerve cells in the spinal cord.

It is a motor neuron disease (MND). This is a group of progressive neurological disorders that destroy motor neurons, the cells that control essential voluntary muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain are transmitted to nerve cells in the brain stem and spinal cord and from them to muscles. When there are disruptions in the signals between the motor neurons and the muscle, the muscles do not work properly. They begin to weaken, and over time waste away (atrophy).

Spinal Muscular Atrophy (SMA) is the number one genetic cause of death for infants.

What is congenital SMA?

Congenital SMA simply means that it is present at birth, rather than presenting itself later in life. Babies with congenital SMA often exhibit contractures of the joints, spinal curvature, deformities of the chest wall, difficulties breathing, abnormally small jaw, and upper eyelid droop (ptosis).

What are the other types of SMA?

There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved. CureSMA.org does a great job summarizing the four primary types of SMA.

Where can I learn more about SMA?

Our family is still incredibly new to the world of SMA, and we are by no means experts on the subjects. There are wonderful organizations that have been dedicated to SMA advocacy for years, and can provide you with more information on the disease itself, how it is diagnosed, carrier testing, and so on. Although they don’t reference congenital SMA or non-5q varieties often, both CureSMA.org and TheGSF.org are easy to read, thorough sites.