One Diagnosis, Two Journeys: Living with Tuberous Sclerosis Complex
Posted: July 15, 2021 | Word Count: 1,550
Kelley and Cammy have never met. But they share a connection that extends further than the three thousand miles of highway bridging their Seattle and Boston hometowns. They both have a rare genetic condition known as tuberous sclerosis complex (TSC), one that affects nearly 50,000 people living in the U.S.
TSC causes benign tumors to grow in the brain and other vital organs throughout the body, such as the kidneys, heart, eyes, lungs, and skin. It often affects the central nervous system, which can cause a host of issues, ranging from seizures, developmental delays, intellectual disability, and autism. It ranges in severity and its signs and symptoms vary widely, often appearing in children within their first year. Some people who have TSC are able to lead healthy and independent lives, but early diagnosis and proactive intervention, such as seizure management, play a large role in getting them there.
A path toward independence
Kelley was only four weeks old when she had her first seizure that also impaired her awareness. Her neurologist prescribed a medication, but she continued to have four to five seizures a day. Then at her two-month appointment, her mother, Leslie, pointed out a white mark on Kelley’s arm. The doctor put her under a UV light to scan for hypomelanotic macules, small light specks of pigmentation that can be a marker for TSC. Kelley was covered in them. That was the visual cue her doctor needed to help diagnose her.
At the time of Kelley’s diagnosis, information about TSC wasn’t as readily available as it is today. Leslie — a first-time parent — versed herself at the university medical library on clinical trials and existing studies surrounding the disease. It was overwhelming, but she knew she had to understand the science to keep going.
Kelley underwent a series of treatments and surgeries that continued throughout her childhood, adolescence, and into early adulthood to help manage her seizures. There were positive gains, but the seizures always returned.
By Kelley’s early twenties, they were running out of options, so Kelley’s neurologist suggested they investigate cannabidiol (CBD). CBD is a chemical derived from the cannabis plant. At the time, there was no FDA-approved CBD on the market. But Leslie’s doctor had heard about EPIDIOLEX® (cannabidiol) oral solution, a new CBD drug candidate that was undergoing clinical trials. He asked if Leslie was interested in having Kelley participate, warning her of the possible side effects, such as loss of appetite, diarrhea, sleepiness and an impact to liver function. For Leslie, the potential benefits outweighed the risks.
Kelley took part in the trial and after taking EPIDIOLEX, Leslie noticed she had fewer seizures. She did experience a loss of appetite and loose stools, but they were prepared. Leslie credits the surgeries and EPIDIOLEX to reducing her seizures. Because the frequency of her seizures has lessened, Kelley has been able to live a more independent life than Leslie had ever imagined for her daughter, moving into an adult family home recently.
The FDA has since approved EPIDIOLEX to treat seizures associated with three rare and severe seizure disorders, including TSC in patients one year of age and older. To date, it is the only prescription CBD on the market.
The race against time
When Cammy was born, Meghan and her husband Mike were just getting into the groove of having three children. Then at six weeks old, Cammy began having seizures. When the doctor diagnosed Cammy with TSC, he encouraged Meghan and Mike not to research it online so that they didn’t get discouraged. “Our whole lives flashed in front of our eyes,” Meghan says. “All I could think about was how different our lives were going to be.”
After multiple assessments, they were told that managing Cammy’s seizures would be the number one predictor of her development. Their doctor prescribed a medication that helped for a while, but over time her seizures got worse. They tried other medications and treatments, and there would be weeks with no seizure activity but then they would slowly begin again. Meghan constantly felt like they were in a race against time to try and control Cammy’s seizures.
When an EEG detected Cammy suffered 30 seizures in one day, Meghan and Mike were desperate to find her relief. Their doctor recommended EPIDIOLEX along with surgery. Meghan and Mike were hesitant to put a one-year-old through brain surgery and on a CBD medicine, but agreed that they needed to act quickly to try to reduce the seizures. Soon after starting EPIDIOLEX, Meghan noticed the frequency of Cammy’s seizures had reduced. She seemed less tired and glimpses of her personality began to peek through.
The road ahead
Kelley, now 27, lives in an adult family home east of Seattle. Leslie’s thrilled that her daughter has become more independent with fewer seizures and is happy she’s found a community she enjoys being part of. She sees Kelley’s experience as a gift for other families and hopes what she’s learned can help guide them through their own experiences with TSC.
At three, Cammy’s journey is just beginning, but Meghan and Mike have already become trailblazers, carving their own path toward a better future for Cammy, who is now thriving at preschool. Their wish is to provide hope and insight to other families who are newly diagnosed and seeking answers.
Both families have been vocal within the TSC community about their experiences because they know how important it is to hear from others who understand the significance of the diagnosis and where to go for help. They know the road is long, but it can be traversed, with support and the right mindset, one step at a time. For more information on EPIDIOLEX, visit www.EPIDIOLEX.com.
EPIDIOLEX Important Safety Information & Indications
What is the Most Important Information I Should Know About EPIDIOLEX (cannabidiol)?
Do not take if you are allergic to cannabidiol or any of the ingredients in EPIDIOLEX.
EPIDIOLEX may cause liver problems. Your doctor may order blood tests to check your liver before you start taking EPIDIOLEX and during treatment. In some cases, EPIDIOLEX treatment may need to be stopped. Call your doctor right away if you start to have any of these signs and symptoms of liver problems during treatment with EPIDIOLEX:
• loss of appetite, nausea, vomiting
• fever, feeling unwell, unusual tiredness
• yellowing of the skin or the whites of the eyes (jaundice)
• unusual darkening of the urine
• right upper stomach area pain or discomfort
EPIDIOLEX may cause you to feel sleepy, which may get better over time. Other medicines (e.g., clobazam) or alcohol may increase sleepiness. Do not drive, operate heavy machinery, or do other dangerous activities until you know how EPIDIOLEX affects you.
Like other antiepileptic drugs, EPIDIOLEX may cause suicidal thoughts or actions in a very small number of people, about 1 in 500. Call a healthcare provider right away if you have any signs of depression or anxiety, thoughts about suicide or self-harm, feelings of agitation or restlessness, aggression, irritability, or other unusual changes in behavior or mood, especially if they are new, worse, or worry you.
Take EPIDIOLEX exactly as your healthcare provider tells you. Do not stop taking EPIDIOLEX without first talking to your healthcare provider. Stopping a seizure medicine suddenly can cause serious problems.
What Else Should I Know When Taking EPIDIOLEX?
The most common side effects of EPIDIOLEX include increase in liver enzymes, sleepiness, decreased appetite, diarrhea, fever, vomiting, feeling very tired and weak, rash, sleep problems, and infections.
EPIDIOLEX may affect the way other medicines work, and other medicines may affect how EPIDIOLEX works. Do not start or stop other medicines without talking to your healthcare provider. Tell healthcare providers about all the medicines you take, including prescription and over-the-counter medicines, vitamins, herbal supplements, and cannabis-based products.
What Additional Information Applies to Women?
If you are pregnant or plan to become pregnant, EPIDIOLEX may harm your unborn baby. You and your healthcare provider will have to decide if you should take EPIDIOLEX while you are pregnant.
If you become pregnant while taking EPIDIOLEX, talk to your healthcare provider about registering with the North American Antiepileptic Drug Pregnancy Registry (by calling 1-888-233-2334). The purpose of this registry is to collect information about the safety of antiepileptic medicines during pregnancy.
Because many medicines like EPIDIOLEX are passed into breast milk, talk to your healthcare provider about the best way to feed your baby while taking EPIDIOLEX.
What is EPIDIOLEX (cannabidiol)?
EPIDIOLEX is a prescription medicine that is used to treat seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex in patients 1 year of age and older.
It is not known if EPIDIOLEX is safe and effective in children under 1 year of age.
You are encouraged to report side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088. You may also contact Greenwich Biosciences at 1 833-424-6724 (1-833-GBIOSCI).