Stella’s Story: Raising a Daughter With Spinal Muscular Atrophy

Becoming a new parent is always scary. There are plenty of worries and concerns: setting up a nursery, making the right decisions, and of course, the baby’s health. Samantha and Jeremy experienced all of these worries when preparing for the birth of their daughter Stella. In order to do everything they could, they opted for genetic screening. The results weren’t what anybody expected; Stella had spinal muscular atrophy (SMA).

About Spinal Muscular Atrophy

SMA is rare genetic order that is characterized by muscle weakness and degeneration. It affects one in every 10,000 people but can vary in severity from person to person. A mutation in the SMN1 causes this condition, and it causes the loss of motor neurons in the spinal cord and brain stem. Due to this loss, muscles weaken and atrophy, specifically the muscles used for walking, breathing, swallowing, crawling, sitting up, and moving the head. The symptoms of this condition depend on the severity and type of SMA.

Type I is the most severe and is diagnosed after birth. The symptoms of this type include developmental delay, the inability to sit up or move the head, and trouble with breathing and swallowing. Type II is diagnosed in children between six and twelve months old, and they experience trouble with standing and walking. Those who have type III are diagnosed between early childhood and adolescence and cannot walk or climb stairs independently. Type IV occurs in adults over 30 and is the least severe type. People with this form of SMA usually have mild muscle weakness, problems with breathing, twitches, or tremors.

Once these symptoms are noticed, a diagnosis is confirmed through neurological examination and genetic testing. While there is no cure for SMA, there are treatments available. Physical therapy, braces, and surgery can all help to improve movement. Noninvasive respiratory support and tracheostomies can address issues with breathing while gastrostomy can help with eating. Spinraza is the first FDA-approved treatment for SMA, and Zolgensma and Evrysdi have also recently been approved.

Stella’s Story

Stella’s parents wanted to do everything that they possibly could to prepare for her arrival. Samantha’s own mother was adopted, meaning that a lot of her medical history is a mystery. To address this situation, the obstetrician suggested genetic screening to see if she was a carrier for any inherited conditions. To everyone’s surprise, she was.

Samantha carried the mutation responsible for SMA, but that still did not concern the doctor. He told them that their worry should be minimal due to the rarity of SMA and lack of family history on both sides. Even after Stella was born, there didn’t seem to be a reason for concern. She passed every reflex test that she was presented with, and doctors brought up no worries at her newborn follow-up appointments.

Because the family is from Arizona, where SMA is not included in any newborn screening panels, SMA was not brought up until three weeks after birth. One of Stella’s tear ducts became blocked, prompting her parents to take her to the doctor. It was there that the first concerns were voiced.

After watching the doctor test Stella’s reflexes and grow increasingly worried, Samantha informed him that she was a carrier for SMA. Right away, he sent the family to a specialist at the local children’s hospital. It was there that Stella was officially diagnosed with SMA type 1.

Jeremy and Samantha were devastated, immediately worried that they were going to lose their daughter. Doctors wouldn’t even have that conversation, as there are multiple treatment options for SMA currently. The FDA has recently approved a number of drugs, all of which improve quality and length of life.

Now that Stella has undergone treatment for some time, her family is ecstatic to notice the improvements she has made. She has reached a number of developmental milestones and is now a bubbly, energetic toddler. One of her favorite things to do is chase the family dog around in her wheelchair.

Her mother is so proud of her daughter and so excited that she is able to live a happy life. To ensure that Stella loves and accepts herself, she has been finding books with protagonists with wheelchairs, gotten her a doll who also uses a wheelchair and other mobility aids, and connected with other SMA patients and their families.

Looking Forward

Inspired by her daughter’s SMA journey, Samantha and Jeremy have begun to work in advocacy and education. They have connected with a number of patient organizations, who have been able to provide support and resources as well. Cure SMA, the Muscular Dystrophy Association, and other nonprofits have been integral in the family’s journey.

The family also wants to push for the addition of SMA to newborn screening in their home state. Early diagnosis allows for early intervention, which is absolutely necessary for these patients. They are working with other advocates, such as the March of Dimes, to call for this change.

You can read more about their story here.

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