Gambling for treatment: A rare disease profile of tuberous sclerosis

By Marlo Schepper Grolnic

When I was 41 weeks pregnant, after what was supposed to be a routine ultrasound, my OB gave me the shocking news: my baby had a tumor in his heart.

This tumor had a fancy name–a “cardiac rhabdomyoma”–and eventually led to the diagnosis of a neurological disorder called tuberous sclerosis complex (TSC). TSC affects approximately 1 in 6,000 people and causes tumors to grow in the major organs of the body, including the brain, heart, lungs, kidneys, skin and eyes. While the tumors are usually benign, they can grow so large or so numerous as to be fatal if untreated. Most people with TSC develop epilepsy in childhood, and about half are considered mentally retarded. Currently, there is no cure.

Approximately 30 TSC clinics exist in the US, and two of them happen to be in Boston, not far from our home. I soon realized just how lucky we were. It’s rare to find a pediatrician who has even heard of TSC, and infants can go for months with devastating seizures before being properly diagnosed. Many families are forced to travel long distances just to reach the nearest clinic. With a rare disease, having a knowledgeable clinician can make all the difference in effective treatment and care.

My son Eli’s seizures began a week before his first birthday. Even though he was immediately put on medication, we’ve struggled with control the seizures ever since. In addition to the tumor in his heart, he has two tumors in his brain and one in his kidney, all requiring yearly monitoring. Now, at age six, Eli has been through more doctors’ appointments, tests and procedures than I have in my lifetime. While we believe he’s cognitively normal, he struggles with speech and motor delays, as well as generalized anxiety and autism spectrum disorders–all of which are common with TSC.

Adding to the difficulty of finding experienced doctors is the problem of health insurance. I’m fortunate to have insurance though my employer, but even the relentless co-pays can be a burden. Seizure medications can cost hundreds of dollars a month alone, and traveling to a TSC clinic–not to mention the MRIs, CAT scans, ultrasounds and other tests needed once you’re there–can simply be too expensive for uninsured or underinsured families.

In such cases, people often choose to go without care. They hope that when a brain or kidney tumor becomes too large, they’ll recognize the symptoms and take drastic action.

It’s an unfortunate game of chance: a game where who gets treatment, and who risks catastrophe, is simply a matter of luck.

Marlo Schepper Grolnic, of Beverly, MA, is co-Chair of the Tuberous Sclerosis Alliance of New England. To learn more about TSC, please visit www.tsalliance.org. May is National TSC Awareness Month.

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  • http://www.atomiclatina.com Carmen

    Treatment access is the linchpin behind any cure we design for our failing healthcare system. Marlo, you have raised the ante by showing how these failures can impact a family coping with a rare disease among its loved ones. Thank you for sharing Eli’s journey with us.

  • Cristy

    As a parent of a child with TSC, I am very grateful not only for good insurance coverage, but also for insurance reform legislation requiring coverage for those with pre-existing conditions. My son can most likely lead a normal life with appropriate healthcare, if he is not denied insurance as an adult (or faced with prohibitively high premiums).

    • http://flavors.me/collaborativecare Ben Miller

      Cristy – thank you so much for your comment. I appreciate the fact that you brought up one of the most important aspects of the affordable care act the inability of insurance companies to discriminate based on preexisting conditions. Without the appropriate insurance coverage for our families, we would have a very hard time paying for any services regardless of their complexity. This is why the system must change. We need to be able to provide help for any patient who needs it.

  • http://cfha.site-ym.com/?page=CollaboBlog Randall Reitz

    Marlo, Thanks for sharing the story of your troublesome interaction with the health system. As a father of a child with seizures, I know of some of the anxiety you describe.

    More than debating politicians or erudite researchers, it is the stories of people like you who will affect change in the healthcare system.

    Best regards,
    Randall

    • http://www.tsalliance.org Marlo Schepper Grolnic

      Thank you, Randall. As I’m sure you realized, I only just scratched the surface of what it’s like to live with a child who has seizures. I’m just grateful for the opportunity to share the enormous difficulties that many of our families face.

      Regards,
      Marlo

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