About Chelsea

Chelsea was born a seemingly healthy baby girl. She didn’t cry when she was first born, but appeared healthy and vigorous otherwise. She left the hospital with a clean bill of health after two days.

Her first few months of life appeared happy and healthy. She smiled and visually tracked objects on time. She slept through the night by a few months old. She hardly ever cried. I would often have to wake her for her daytime feedings.

Things took a drastic change at her 7 month well baby check up. She had lost nearly a pound from her previous visit a month before. Concerns were raised over her floppy muscle tone and lab work was ordered. She was also referred to a neurologist.

We saw her first specialist two months later. The neurologist also noted she was floppy and ordered more lab work. There was nothing in her results to indicate anything sinister, so we continued with well baby check-ups and a 6 month follow-up with the neurologist.

As the weeks passed, she never gained those much anticipated milestones. She seemed happy, however. There didn’t seem like there could be anything wrong with her, she was so complacent and easygoing.

At 18 months, she had her first MRI, which showed mild gliosis, scarring of the white matter in her brain. Her neurologist’s opinion was that her condition was ‘static’, Chelsea had suffered some insult to her central nervous system, and she should catch up by leaps and bounds. This never happened. As she passed 2 years old, the neurologist changed his opinion about her condition. Chelsea had a few mild lab abnormalities that pointed to mitochondrial disease. We had also heard of Rett Syndrome from the internet, but were told she lacked the common features of the condition.

Read More

From the age of 2 1/2 to 3 1/2, our world drastically changed. First we learned she had a form of dysphagia (swallow dysfunction) called severe silent aspiration. She underwent a muscle and skin biopsy to test for mitochondrial diseases. Around the same time, her father and I were concerned over night time screaming fits Chelsea was having. This prompted her neurologist to run an EEG, which indicated seizure activity. Chelsea started phenobarbitol immediately.

Her health went downhill from there. Her aspiration became very evident, and within a few months developed aspiration pneumonia. After her second bout in six weeks, Chelsea had a gastronomy tube and nissen fundoplication done. She also left the hospital with oxygen, suction machine, and a pulseOximeter to monitor her blood oxygen level. She began to see more specialists. Her calories had to be closely monitored due to excessive weight gain post g-tube. She was eventually cut to 600 per day.

Her epilepsy was minor for the first two years. Episodes were identified where she would get glassy eyed and flap her arms, but she never lost consciousness. In late 2001, her seizures drastically changed. They were much stronger, with stiffening, loss of consciousness, and clustering. Less than two months later, she lost a tooth that ended up in her lungs. This wasn’t realized until eight weeks later, when she ended up in the ER in status epilepticus. She was having back-to-back seizures and not coming out of them in between. Now she was having full blown convulsions that often had to be stopped with valium.

The next few years were very difficult. Her seizures worsened to multiple clusters a week. Her biopsy results were inconclusive, but her neurologist firmly believed she had a mitochondrial disease. He told us there was no cure, no treatment, and the outlook was very poor.

We decided to pursue a second opinion through Shriner’s Hospital in Chicago. Chelsea began seeing a neurologist there twice a year. He was not convinced Chelsea had a mitochondrial disease, and continued testing her for just about anything. He eventually tested her for Rett Syndrome. Six weeks later, he called to tell us Chelsea had one of the gene mutations that causes Rett’s. Chelsea was 7 1/2 years old at this time.

Her diagnosis wasn’t the only big change going on at this time. Earlier in the year, she began seeing a new local neurologist due to retirement. She was also in the process of being weaned off phenobarbitol. Suddenly we had a child who was awake all the time, and best of all, she began to take more of an interest in her environment. Ironically, she also began to display some classic Rett behavior, including handwringing.

Chelsea’s health has gradually improved as she has gotten older. She continues to be prone to aspiration and infections, but not nearly as frequent as when she was younger. Her seizures are under better control with two medications.  She developed a cough-variant asthma as a result of her early aspiration episodes, and tends to over produce mucous. This is kept under control with a strict pulmonary routine, including chest pt, nebulized medications and use of a cough assist machine.

In late summer of 2005, Chelsea was asked to participate in a special program called The Ride of Their Lives. Chelsea would be paired with an experienced athlete to compete in the Reed’s Lake Triathlon. She would ride in an inflatable kayak for the swim, and a Chariot for the bike and run. She had such a great time and it was such a wonderful experience for her that she was asked to participate again the following year. That year she was paired with an older athlete who so inspired Jeff, her Dad, that he began training for the next year.

So in 2007,  Jeff and Chelsea began to participate in racing events together. They ran the Reed’s Lake 10 k and triathlon. Jeff also did the 25 k Riverbank Run on his own. In 2008, they increased their events to 3 triathlons, plus the 10 k again. Chelsea enjoys these events tremendously, and give her a great sense of pride. She also enjoys the special time she gets to spend with Dad.