Marlena’s Story

Marlena Elizabeth was born on April 13, 1999. She was a beautiful baby.  Shortly after birth, she experienced hypothermia and difficulty sucking. Little did I know that these were the first signs that her development wasn’t normal. She was a very quiet, happy baby that drooled all the time and had poor head control. Shortly before 7 months of age while in a doctor’s office, she displayed a rare and devastating seizure called infantile spasms. She was sent immediately to a hospital for evaluation.

Several weeks later after receiving permission from the NORD, she was able to start daily ACTH steroid injections and within days her spasms stopped. She had to receive injections for 2 months and was in and out of the hospital daily for monitoring. Marlena was fortunate, as only 10% of patients respond to ACTH. Her neurologist stated that most babies with infantile spasms are profoundly impaired and may never walk or talk. Infantile spasms is often a sign of a chromosome disorder and in this case, blood work confirmed Marlena had a duplication of a small piece of genetic material. She had a disorder called idic(15), one type of dup15q syndrome.  Our lives changed forever. No longer was it just getting her to daycare and attending all her brother’s activities, she now had OT,  PT, speech therapy, early intervention, medication and a multitude of doctor appointments.

 

Marlena’s development  was delayed. She walked on her second birthday. She said her first words around 4 years of age and hasn’t stopped talking since. She has been in special education with therapies and fast forward many years, she can read, type and has mastered the iPad. She is currently practicing job skills at school and loves to shred, type and of course, talk on a phone.Marlena is my  hero, as she has had more medical tests, lab work, and has been to more specialists than any person I know.  Despite that, she takes all this in stride. She has a love of people. She must know your name and remembers it. She has incredible empathy for others and loves to help people.  She enjoys her family and her dog.  In her free time, she likes to hang out with her friends including Riley, Emilie, and Ella – all of whom have dup15q syndrome – and her friends at Vittum Park. Despite the challenging symptoms of dup15q syndrome, she has won over 100 Special Olympic medals and participates in Special Gifts Theatre productions. She attends a private school for people with autism.

 

Marlena is best noted for her high energy level. She is often impulsive, yet  has a very social, hyper verbal and engaging personality.  Her afflictions are severe anxiety, sensory disorder, autism, ADHD, developmental delay and seizures. Unfortunately, 4 months ago, very difficult to treat seizures returned. She has been in and out of  hospitals and doctor’s offices since. She had been seizure free since 2009.  As a result of seizure medication , she has regressed, is not as social, not as hyper, not the Marlena we have come to know and love. Despite medication, she still has seizures and with seizures comes the worry of sudden death, especially since her seizures primarily occur in her sleep.

 

My hope is that with more research and a better understanding of her condition, dup15q syndrome, new interventions will be discovered to make everyday struggles, including seizures, non-existent. I have so many dreams for her and with your help, I know we can help some of them come true! Soon after her diagnosis, I was welcomed by an amazing community of others with children and family members with idic(15).  Dup15q Alliance is a lifeline to families and is the only organization working with doctors and scientists to further understanding and treatments specifically for dup15q syndrome.