Sydney Fights Epilepsia Partialis Continua; Families United Through NIH Undiagnosed Diseases Program

Sidney is diagnosed with Epilepsia Partialis Continua (EPC)

Life couldn’t have been more perfect. My husband and I had great jobs, we bought a house in the country and we had two healthy twins, a boy and a girl. We moved to our house when the twins were two-years old – life was good!

A year later, life as we knew it would never be the same. Shortly after the twins turned three, our daughter, Sydney, started having seizures which turned into a constant twitch that started in her face and quickly spread over her entire body. At a follow-up visit with her neurologist, the twitching was diagnosed as Epilepsia Partialis Continua (EPC). Our physician suggested starting IV medications to try and control the seizures and Sydney was admitted to the hospital immediately.

After a week of numerous medications that did not work, her doctor wanted to try a 48-hour drug induced coma to let her brain “reset” with hope the EPC would stop. During that week of trying medications, Sydney came down with the flu from other patients on the floor.  In addition, since the medication was given at a higher dose than required, the coma lasted six days instead of two.

Little did we know, the flu attacked her lungs shortly after being intubated for the coma. Having the flu while being intubated resulted in Sydney being put on life support for 16 very long days. Life seemed to be spinning out of control. We came close to losing her twice during the 16 days. All of the odds were against her.

Sydney beat those odds and proved her doctors wrong.  Yet, she developed a life threatening Deep Vein Thrombosis (DVT) blood clot from a central line amidst her fight. Sydney was severely deconditioned from being in a hospital bed for such a long time. She went through three weeks of intense inpatient rehab before coming home 87 days later from what was supposed to be just a follow-up visit. She gained back everything she had lost, from learning to eating to walking.

Once Sydney was home, within a few months, she began regressing. It was determined, her seizure medication was given at an extremely high dose and turned her into a complete vegetable the following year. She lost everything she had gained back in rehab. Our fight was not only to figure out the seizures, but also how to deal with the numerous complications.

Even during the darkest days where we almost lost Sydney to every little set-back, we never lost hope.

Hope is all we ever had. Sydney has stumped doctors from several institutions. After numerous tests that have come back normal, they have no idea what is wrong with her or how to treat it. During this time, we felt so alone.  We have been fighting a battle that even the doctors can not make sense of her symptoms.

Then, we found another little girl with the same symptoms through an article on CNN and the NY Times about the Undiagnosed Disease Program at the National Institutes of Health. We are no longer alone. Now we are sharing hope across the miles from the East coast to the West coast.

Hope that they can figure out what is happening to our little girls. As soon as we found this little girl and her family, we knew more children had to be out there fighting the same battle.

That is when Syd’s Kids formed to try and spread awareness and never lose sight of hope.  We are hoping that if we find enough children with the same symptoms it will point to a clue as to what is causing this and hopefully a successful treatment.

Hope is a powerful thing.  Each day is a challenge and all you can do is never lose sight of hope.  We do not know what monster has taken over our girls.  We do not know how much time we have since there is no diagnosis.  We do not know what we are going to face from day-to-day.

All we do know is that another family knows what it is like to live in our shoes.  That in itself strengthens our hope and gives us strength to keep on fighting for our daughters, that some day they will figure this mystery out.

Carrie Marko