For Ann, being a mother has meant walking beside her daughter through the unpredictable world of Ring Chromosome 20 syndrome. From the first signs to today, their journey reflects the patience, strength and love they have for each other.
As we mark Epilepsy Awareness Month in the United States, Ann’s story reminds us that behind every diagnosis is a family, holding on to hope and inspiring others to do the same.

The time spent with my daughter Becca, who lives with Ring 20, has covered a wide scope of emotions; we have experienced immense joy as well as extreme sadness and every other emotion in between, as mother and daughter.

For the first seven and a half years of her life, my daughter was strong, athletic, active, and shy. She was a fierce competitor in soccer and swimming, winning many awards for her athletic accomplishments.

Then in the spring of 1988, things began to change. We started noticing moments where our daughter began to lose focus during soccer games or while swimming. At the time, we had no idea what was happening until we realised they were the first signs of what we now know, decades later, is epilepsy caused by Ring 20 syndrome.

A prolonged diagnostic odyssey

Between 1988 and 1989, doctors tested for diabetes and asthma and ran EEGs all with no answers. We knew that physical activity induced the symptoms and so my husband was able to get a stationary bike into the EEG room and during that test, she had a seizure. That moment confirmed the diagnosis of epilepsy, which they termed atypical partial complex seizures. I always said that ‘atypical’ was the most important word in her diagnosis. It was not until 24 years later that a karyotype test was ordered and we discovered her “atypical” seizures were caused by Ring 20 when Becca was thirty-two years of age.

Treatment ‘trials and tribulations’

The years that followed were filled with medication trials, endless side effects of nausea and hallucinations as well as moments of hope and disappointment. Becca opted to try every new drug that came on the market and our lives revolved around administering doses, noting any changes or symptoms. There was often a need to devote extra attention to nurturing and bolstering Becca’s self-worth due to depression during these times.

We also tried a special Ketogenic Diet, but it was too restrictive and deeply affected our family. It included minute portions of strange food combinations. Eventually, the best combination of medications was found to be Depakote (Valproate) and Trileptal (Oxcarbazepine). Despite all she has gone through, and is going through, Becca is strong and always perseveres through hard challenges.

Growing up and independence

High school in the mid-1990s was hard. While Becca’s friends gained independence and learned how to drive, she often felt alone and isolated. After graduating, she attended a two-year vocational school in Pennsylvania, three hours away, her first experience living away from home. It allowed her to grow and when she returned, we were grateful to have her home safe, supported by people who understand her diagnosis. Those same people are a great support system for us as I can share anything with them.

We have learned what brings her comfort; the calm presence of our dogs and her sessions at a therapeutic horse farm, where she rides her favourite horse, Betty. These moments bring her peace that no medicine can and are all part of who Becca is.

Over the years, Becca has taught me more patience, strength, and appreciation for life’s small joys than anyone on earth. With her endless knowledge of nature and animals, she has opened my eyes to the wonder I once did not stop to enjoy earlier.

My thanks and hopes

After more than 50 years of marriage, my husband has been my best support; we are truly blessed for our daughter’s courage and for the love that carries us through each challenge.

This Epilepsy Awareness Month I hope for more research and understanding, so that one day people living with Ring 20 can be rid of daily seizures that hinder them from being all they are capable of being.