Sisters Reflect on Growing up Together with SMA

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Heather and Jessica Tomko

Sisters often share – clothes, friends, hobbies, a bedroom. Heather and Jessica Tomko share SMA.

Heather, 33, of Pittsburgh, was diagnosed with SMA Type 2 when she was one year old, and when her younger sister Jessica, 32, started showing the same delays with sitting and crawling as a baby, it was presumed that she had SMA as well.

No one else in their family had ever been diagnosed with SMA, so it was quite a shock. But for the Tomko sisters, who have no other siblings, SMA was just a fact of life.

“It is special looking back on it now,” said Heather, “but growing up it was just normal. I think it helped to normalize our own experiences because we always saw another example of someone who was just like us.”

They also had typical sibling fights, with Heather falling into the role of the bossy older sister and Jessica doing the irksome things younger sisters do.

But they were also incredibly close, because although Jessica and Heather were fortunate to have had a supportive friend group – cultivated through access to a mainstream education, extracurriculars and social activities – no one could possibly understand the challenges one another faced better than her sister.

Heather and Jessica Tomko as children

Finding Chosen Family

It wasn’t until adulthood, and the advent of social media, that the Tomko sisters started making deep and meaningful connections with others who shared many of these same struggles.

Finding the online SMA community – and the disability community at large – unlocked a knowledge base brimming with advice on everything from wheelchair-friendly restaurants to navigating the health care system, including finding the right doctor. That last part came in particularly handy when the sisters decided to switch providers in order to be more proactive about their treatment options.

Now, the Tomko sisters have thousands of highly knowledgeable people to lean on for questions and support, rather than just one another.

Most importantly, though, these online communities became a beacon of identity and self-acceptance.

Although the sisters found their disability normalized by the reality of growing up with a sibling who shares the same rare disease, connecting with the broader community brought external perspectives that they didn’t even realize they were lacking.

“For me, finding that community full of cool, amazing people has really helped me go from acknowledging my disability to not only accepting but embracing it as an integral part of me,” Heather said. “Identity is a tricky thing to be accepting of. Having that community around me is a huge help.”

“There’s something validating about seeing and hearing these experiences reflected in people you haven’t grown up with – that you haven’t known since you were born – that helps you understand your own experiences a little bit better as well,” Jessica added.

Social media has also given the Tomko sisters a platform to show the rest of the world that living with SMA can be fashionable and full of joy. It has even become a means to voice the need for greater accessibility, stronger support services and better disability representation in the media.

Adulthood Brings Another Change

In 2020, when Evrysdi® (risdiplam), was first approved by the U.S. Food and Drug Administration, it was big news for the Tomko sisters. Evrysdi is approved to treat SMA in adults and children of all ages.

The Tomko sisters both have scoliosis, treated with rods fused to their spines, and neither woman had expected there would be a treatment for SMA available to them within their lifetimes. They had long accepted the notion that progressive muscle loss was inevitable.

Now, there was an oral medication they could take at home to start treating their SMA.

Heather and Jessica Tomko as adults“I had lived for so many years knowing that at some point I would lose the ability and the strength that I have now,” Heather said. “Knowing that there was something out there that might help me maintain the muscle function that I have, it was like a weight had been lifted off my shoulders that I didn’t even know was there.”

The Tomko sisters immediately set to work on finding a new neurologist — specifically someone with experience treating SMA in adults — to discuss the benefits and risks of starting Evrysdi. Heather began taking Evrysdi last April, at the age of 32, and Jessica started a few months later, at age 31. Being adults, they take 5mg of the liquid medicine orally each morning.

Looking Forward and Looking Back

With untreated Type 2 SMA, progression is slow and subtle. Lost skills may only become apparent when looking back months or years later.

And because progression varies from person to person, there’s no precise benchmarking of when certain skills may be lost, so there’s always a degree of uncertainty about what life will look like at any stage in the future.

“That’s good because it doesn’t put you into a box, but there are also certain anxieties that come with not knowing what will happen,” Jessica said.

The sisters have been taking Evrysdi for about a year at this point and continue to be proactive about their SMA treatment plan.

“Right now, I feel like I’m not allowing the progression of the disease to go unchecked,” Heather said.

Heather and Jessica Tomko as kids

 

What is Evrysdi?

Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in children and adults.

Important Safety Information

  • Before taking Evrysdi, tell your healthcare provider about all of your medical conditions, including if you:
    • are pregnant or plan to become pregnant, as Evrysdi may harm your unborn baby. Ask your healthcare provider for advice before taking this medicine
    • are a woman who can become pregnant:
      • Before you start your treatment with Evrysdi, your healthcare provider may test you for pregnancy
      • Talk to your healthcare provider about birth control methods that may be right for you. Use birth control while on treatment and for at least 1 month after stopping Evrysdi
    • are an adult male. Evrysdi may affect a man’s ability to have children (fertility). Ask a healthcare provider for advice before taking this medicine
    • are breastfeeding or plan to breastfeed. It is not known if Evrysdi passes into breast milk and may harm your baby
  • Tell your healthcare provider about all the medicines you take
  • You should receive Evrysdi from the pharmacy as a liquid. If the medicine in the bottle is a powder, do not use it. Contact your pharmacist for a replacement
  • Avoid getting Evrysdi on your skin or in your eyes. If Evrysdi gets on your skin, wash the area with soap and water. If Evrysdi gets in your eyes, rinse your eyes with water
  • The most common side effects of Evrysdi include:
    • For later-onset SMA:
      • fever
      • diarrhea
      • rash
    • For infantile-onset SMA:
      • fever
      • diarrhea
      • rash
      • runny nose, sneezing and sore throat (upper respiratory infection)
      • lung infection (lower respiratory infection)
      • constipation
      • vomiting
      • cough

These are not all of the possible side effects of Evrysdi. For more information on the risk and benefits profile of Evrysdi, ask your healthcare provider or pharmacist.

You may report side effects to the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Genentech at 1-888-835-2555.

Please see full Prescribing Information for additional Important Safety Information.