Erika was born 16 years ago, along with her fraternal twin sister, Jaimie. They joined their 1 year old sister, Alyssa, and 8 year old brother, Brian. Although the pregnancy, and having twins, was a total surprise, it was just a typical pregnancy that went smoothly. The delivery was a c-section that was uneventful. Once we saw our beautiful babies, heard them cry for the first time, counted 10 fingers and toes on each, we put all our fears aside, and thanked God everything was okay and they were perfect! We came home and settled into our hectic, but happy, day-to-day. It wasn’t until 6 months later that our world changed forever.
One night my husband asked me if I noticed that Erika stretched her arms and legs out at the same time. Sure enough, the next morning before I went to work, as I was giving Erika her bottle, she did it … and you could count to 10 and she did it again, and again. It was a reflex, like if you dropped a cat and the arms and legs stiffened. We made an appointment right away at the pediatrician, and had even caught it on video. We didn’t need it though because Erika did it in the exam room right on que for the doctor. We were immediately referred that day to a pediatric neurologist, who told us our beautiful 6 month old had infantile spasms, a type of seizure. Talk about life knocking you over. We never even heard of it, so relied on the doctor as the expert. He started Erika on an experimental drug, which if it worked would have fewer side effects. Needless to say the medicine did not work and we pushed, rather begged, the doctor to try something different. At that point, we had to go into the hospital for Erika to be monitored, and we learned to give her a medication injected into her thigh. Heartbreaking, but a few months later and double in size (weight gain and bloating a side effect), it worked. She had tests done but it all came back showing nothing. We had no answers to our questions as to why.
Over the next year, we traveled to various specialists in Philadelphia, NYC, had numerous tests and MRIs performed, but no one had answers and we found ourselves on a path with no roadmap, just finding our own way. Erika was still delayed with her major milestones and we had a good comparator – her twin sister and sister one year older. We were told by the neurologist that Erika just needed to "catch up" and
“don’t compare siblings”. We started early intervention and Erika was given physical therapy, occupational therapy and speech. Although we never stopped pushing Erika, at one point we never thought she would walk, and then she walked. Never thought she would talk, and then she talked. At 3 years old, she started preschool in the town. Hardest thing is putting your small 3 year old daughter, who isn’t that verbal, on a school bus, trusting that teachers and therapists will treat your little girl the way you do.
When Erika was 3 1/2 years old, we switched neurologists, who did various testing again. This time, 6 months later, after she told us initially everything came back fine; another test came back showing something. I remember the day like it was yesterday, when I spoke to the doctor. I was in VA on a business trip and she told me matter of fact that Erika had a break in her chromosome 15 and had either Angelman Syndrome or Prader Willy, and we needed to see a geneticist. I was hysterical when I called my husband to tell him. We did all types of research on the Internet, and were heartbroken … once again. Turns out when we saw the geneticist that she didn’t have a break in her chromosome 15, but rather an extra piece of chromosome 15 and she had something called Isodicentric 15. Although we were relieved we had an answer, we were also devastated at the same time. Life once again knocked us over. We went back online doing all kinds of research. That’s when we stumbled across a family support group for IDIC15 (now called Dup15q). Lucky for us they were having a conference in Chicago 3 weeks later so we quickly registered. Best thing we ever did. We found we weren’t alone, and found people who had similar experiences. We embarked on a new journey, learning all we can.
Over the past 12 years, knowing what Erika has, we have attended national conferences, attended and hosted regional family gatherings attended and held fundraisers in the hope for a cure. There is an unexplainable connection you feel with the other families of Dup15q children. Our struggles, worries, experiences are all so similar. Our outlook, hope and quest for research and a cure are the same. We see the beauty in our children and appreciate them for who they are, knowing what it takes for our kids to the simplest of things. We will never stop believing, and shed tears when we see our innocent Dup15q children pass away, and worry what is in store for our own child. Erika herself stopped breathing 2 ½ years ago and we had to call 911. She has seizures that we live in constant fear of. She has had 4 broken fingers and a dislocated finger that was misdiagnosed by the hospital because she did not display the ‘typical’ symptoms. She has such a scary high tolerance of pain that she never even cried!
Erika is a happy girl, who has far surpassed our expectations. She laughs, sings … knows words to every song … and can read! She loves everyone she meets, is thoughtful and sees only the good in people. Everyone should see life through her eyes! We are blessed and she amazes us every day.
We will never stop believing that one day there will be a cure!