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Home » Neurological Disorders » Living with a Rare, Neurological, and Misunderstood Disease

Myla Speer is your typical 7-year-old girl — full of life, living life to the fullest; she does not let anything get in her way, regardless of the challenges she has faced in her seven short years.

Karen Ball

CEO, The Sturge-Weber Foundation

“Your recurring gift helps SWS patients and their families with programs and support, making their lives better.”

Myla was born with a port-wine birthmark on her forehead that the family was told would fade in time. However, at 8 months old, Myla was diagnosed with a rare, devastating, and life-threatening disease called Sturge-Weber syndrome (SWS).

“Myla lights up every room; she has an infectious attitude and spunky personality that everyone wants to be around,” said Molly, Myla’s mother.

About Sturge-Weber syndrome

SWS is a congenital, non-familial, rare disease caused by a mutation in the GNAQ gene. The disease is characterized by a facial port-wine birthmark and neurological abnormalities. SWS can affect the eye with glaucoma, endocrine, and organ systems and cause developmental delays. Each case of SWS is unique and presents itself differently from individual to individual.

Signs and symptoms

The most visible symptom is the birthmark, which is caused by small blood vessels near the skin’s surface becoming enlarged. These birthmarks are initially flat and often appear on the face — usually on the forehead, temple, or eyelid. Most often, the birthmark appears on one side of the face, however, it can appear on both sides.

In addition to its appearance, the birthmark can seriously affect the neurocognitive abilities of individuals with SWS, and that is the most important symptom of the disease. Due to the formation and growth of these blood capillaries under the skin, SWS can affect one or both sides of the brain and impair blood flow in the brain. The loss of blood flow can cause stroke-like episodes, often involving temporary muscle weakness on one side of the body (sometimes both sides), vision problems, seizures, and intense headaches.

Individuals with SWS have varying levels of cognitive function from individual to individual. For example, some individuals have learning disabilities with problems focusing, similar to attention-deficit/hyperactivity disorder.

In addition to birthmarks and seizures, glaucoma typically develops either in infancy or early adulthood and can cause vision impairment. In some affected infants, the pressure can become so great that the eyeballs appear enlarged and bulging.

Myla’s case

Myla’s most devastating symptom is the seizures. She has a cluster of seizures around the same time each month — usually three to four seizures in a week. As noted with seizures and individuals with SWS, they are stroke-like, with her left side not functioning properly.

Unfortunately, medications do not help her manage the seizures. So, Myla fights through them, like she does when facing any challenge. She tries to walk through them and ultimately waits for them to pass, which usually takes 15-20 minutes. Sometimes, she has multiple seizures in the same day. Over her lifetime, Myla has experienced more than 50 seizures.

Unfortunately, the only way to permanently eradicate the seizures is brain surgery, and Myla’s doctor is afraid that surgery will change her life completely; surgery is uncertain, and the changes could be irreversible. Her doctor’s recommendation is to not move forward with surgery and manage the seizures as they occur. He doesn’t feel like surgery is the right choice for her.

The Speer family

The importance of continued research

The most important thing people can do to help those affected by SWS is to support continued research and continue raising awareness about the need for research and funding to support the research that is underway.

There is so much early-stage preclinical research being done, but there needs to be more money raised to advance the research into clinical trials. In 2013, the Sturge-Weber Foundation (SWF) supported the discovery of the GNAQ gene, which identified the cause of SWS. However, for an effective treatment to be developed, more research must be completed.

How you can help

Over the past six years, Myla’s parents, Thomas and Molly, have raised more than $80,000 for the SWF in honor of Myla by hosting the Myla’s Mission for Sturge-Weber Research and Awareness 5K and UTV/Jeep ride. The Speer family started the fundraiser to raise awareness for SWS, which benefits the SWF. However, they became so connected to the community and the people who supported them when they learned of Myla’s diagnosis that they knew they had to do something more. Since then, they have become staunch advocates for SWS patients, doing whatever they can to raise funds for the SWF.

If you want to help, you don’t have to organize a fundraiser or raise a lot of money. Any amount of money will help the organization advance research, even $10 a month is helpful!

Below are four reasons to donate to the SWF:

  1. Your recurring gift helps patients and families with programs and support, making their lives better.
  2. You are helping us drive research to find a cure and stop SWS in its tracks.
  3. Your donation will help launch and support learning programs, such as Warrior University, mental health chats, and educational mini-summits.
  4. As a rare disease, we must work extra hard for government grants. The bulk of our funding comes from individuals like you.

Click here to learn more Learn about the SWF.
You can also donate by texting SWFUNITED to 53-555.

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