Overcoming the Obstacles
Kaytlin was born on February 11, 2012. We did not have a pre-diagnosis of Down syndrome.
Shortly after she was born, she was placed in the NICU because her oxygen levels were low. I will never forget this night for as long as I live. The neonatologist bust through our room (even though the nurse told her not to wake me up because I was finally asleep) and shook me to wake me up. She said, “wake up, wake up, please wake up, this is regarding your daughter. I see a physical trait of Down syndrome in her eyes. We are doing to do chromosome testing.” I woke up my husband (was was sleeping in the bed next to me) and told him the news. We sat there in darkness and cried.
The next day, they took an echocardiogram of her heart and discovered a very large VSD. Only to discover later that she had a VSD, PDA and PFO. Doctors were always very fast and abrupt when telling us the news and then quick to run away.
Kaytlin started having brief spasms that looked like a contraction or arching of the torso with stiffening of the extremities. For a long time, we thought it was related to her horrible reflux that she was diagnosed with at birth. We had many GI tests done (24 hour PH probe study, upper GI study and swallow study) to get to the bottom of Kaytlin’s developmental regression and painful unhappiness.
Things really started to fall apart with Kaytlin. She stopped smiling and laughing. This is something that we kept bringing up to doctors and asking other families at GiGi’s Playhouse how much their children smiled and laughed. We knew something was wrong and we wanted answers. Other areas of development also stopped. She had been rolling, but she had stopped. She was always very grumpy. She was just not responding to anyone. She has many periods of absolute inconsolability and she was so squirmy. We all thought it was due to her horrible reflux.
We kept on going to the doctors. We got answers like she was teething or it’s her horrible reflux and constipation. One doctor even said her episodes looked like muscle spasms and she was growing into her body, or it’s an ear infection. All of which may have been true, but everything was hovering over her underlying diagnosis of ‘infantile spasm’ seizures. She was having clusters of seizures at a time, possibly hundreds of seizures a day.
Kaytlin was still having these periods of jerks, back arching, arm whaling. Her arms and legs would extend and then and her eyes would roll up and over. The spasms would last only a few seconds. They were typically when she’d go down or wake up from a nap. They’d last about 5 minutes (several clusters of these spasm episodes), and happen several times a day. She’d clench and then relax for about 20 second, whimpering in between.
Developmentally, Kaytlin was continuing to regress. She was still not sitting at 10 months. She lacked trunk control and was wobbling and jerking. She was having trouble lifting her head during tummy time. She was almost completely withdrawn. We were so frustrated and all we wanted was for her to be happy!
I showed Kaytlin’s pediatrician the video that I took of Kaytlin having clusters of these jerking spells while she was on the changing table. I told her these jerking episodes were happening a few times a day. That was the pediatrician’s first case of this. She was suspicious because it was the same type of movement over and over again. She picked up the phone and contacted the neurologist at Lurie’s Children’s Hospital to schedule and EEG.
The next morning, during Kaytlin’s EEG, the neurologist came in and told us that Infantile Spasms had been confirmed. I was just so relieved to have an answer. She was admitted to the hospital for a week right around Christmas.
Give the success of ACTH with children with Down syndrome, that was the first line treatment that was decided upon. It’s expensive… very expensive…. $30,000 per 5ml vial expensive. They shipped 1 vial to the hospital on Christmas eve so we could be home for Christmas. Thank you Santa!! After that each vial was shipped to our house (since pharmacies don’t carry this super expensive, refrigeration required drug, it was shipped right from the ACTHAR drug company). ACTH is a daily steroid injection. I was informed that how it works is that is releases cortisol from the adrenal gland, which works to reverse the hypsarrhythmia, which causes the seizures. ACTH is a daily steroid injection.
The nurses at Lurie’s Children’s Hospital taught us how to inject with the needle in her cute little thigh. 🙁 However, they did not teach us how to draw up the medicine. The medicine came pre-measured from the hospital pharmacy and we were told the shots would also be pre-measured for us as well. What a surprise to arrive home at 9pm on Christmas eve to discover we had to measure about 10 precise shots from one tiny 5ml glass vial. In addition, everything had to be converted from Units to MLs. We were quickly on the phone with the Neurology Department as they walked us through each measurement. I will never forget how scared I felt. We had to have a very precise measurement, without air bubbles. That was extremely difficult to do! We had to inject her two times a day for a little over 6 weeks. We practiced giving the shot using oranges at first and also to gain courage. Before we could leave the hospital, we had to show that we could give Kaytlin the injections. They also gave us stool and urine testing kits and showed us how to test Kaytlin’s stool for blood and her urine for glucose as the medication can cause gastrointestinal bleeding and elevation in blood glucose levels (which then end up in the urine) like diabetes. The medication can also cause elevated blood pressure, weight gain and irritability. They forewarned us about the increased hunger and irritability. They also told us about the Cushing syndrome, which is puffiness of the face, as a result of the steroid.
My very brave husband gave Kaytlin her second injection of ACTH. Kaytlin’s seizures have decreased in number and severity, but had not gone away completely at this point. However, she is also starting to progress developmentally. She’s starting to roll more, pick up her head and LAUGH AND SMILE!!! Later she was able to focus on people and things. She then started giggling for the first time and vocalizing for periods of time.
Whatever the odds, Kaytlin continues to succeed. Doctors told me not to breastfeed due to her diagnosis and medical issues. Kaytlin and I are still breastfeeding to this day.
Kaytlin is smiling, laughing and developing more and more every day! Our angel is doing great! We are thrilled with her progress since February. Kevin and I are very blessed to have such a supportive family and we have found some wonderful doctors and therapists who keep Kaytlin progressing and us learning every day. We are blessed to have worked with Dr. Ritacco at Lurie’s Children’s Hospital in Chicago. He saved Kaytlin from the infantile spasms with immediate treatment and care. He gave our daughter back to us and made her come to life!! We couldn’t be more proud of her. We are having so much discovering her new personality!
Before, during and after, GiGi’s Playhouse was there for us every step of the way. I don’t know what we would have done without the continuous love and support from GiGi’s. GiGi’s Playhouse gave us the support and strength that we needed. Positive energy flows through the doors and windows of the Playhouse, like a happy addiction.
Kaytlin has impacted all of our lives. She gives us all something that we were missing in our life. Whether it was grace, courage, strength, leadership or pizzazz or to be fun and spontaneous. Kaytlin’s Down syndrome does not own her, it is a part of her that has made her courageous, beautiful and powerful. She has overcome so much in such a short time and still continues to shine. I thank God every single day that Kaytlin came to us. We are so very lucky to have her. She is an inspiration to us all.
That was very beautiful. You are a wonderful mother and Kevin is a wonderful father. Kaytlin is very lucky to have you as parents. You are rocks and are such wonderful people. I feel honored knowing you all.
Love you, and
I pray for her to keep growing and developing day by day.