The face of Rett Syndrome

Every day, 3-year-old Morgan Kaelin’s life consists of some form of therapy, lots of medications and feedings through a tube in her stomach. Oh - and watching her favorite show, Mickey Mouse Clubhouse, on TV. For the many things in her world that are so out of the ordinary for such a young child, things like getting excited when your favorite cartoon comes on make Morgan seem so . . . ordinary. But her life is anything but ordinary. In June 2012, Morgan’s parents - Deidre and Mark Kaelin - got the phone call that their little girl had been diagnosed with Rett Syndrome. She is one of only 25 children with the disease in the state of Nebraska, and one of only 5,000 - 6,000 cases nationwide. Morgan was born Sept. 1, 2009, seemingly a healthy baby girl. But her mom says when she was just 3-months-old, Morgan got very sick and spent a week in the hospital. After that it just seemed to be a series of sickness throughout the entire first year of her life. Deidre says by the time Morgan was 5 or 6-months-old, she began to notice that her daughter showed no interest in attempting to crawl. “She would sit up just fine about anywhere you put her, but she wouldn’t even try to crawl,” Deidre recalls. She says that was the first sign that began to get her concerned. It seemed as if the little girl was always getting sick - if someone came around with any kind of bug, Morgan caught it. The doctor thought perhaps it was her heart, so on her first birthday Morgan had her first EKG. Though a slight heart rhythm was found, it was determined not to be the cause of the problems she was experiencing. Morgan was then sent to Omaha to see a pediatrician. That doctor discovered that she was having issues with her depth of perception and suggested that may be the reason Morgan didn’t try to crawl or walk. So her parents got her glasses, but her condition did not improve. The pediatrician then recommended the couple take Morgan to see a pulmonologist, thinking she may have some kind of auto-immune disorder. A battery of tests was run, with no answers. They went to the developmental clinic at Children’s Hospital where Morgan was poked and prodded by a number of various specialists, and no one seemed to be able to figure out what was going on with her. Finally, in April 2012, Deidre took her daughter to see a neurologist and he suggested testing for Rett Syndrome - just to eliminate it from the list. Unfortunately, the test didn’t eliminate it - and the couple finally had the answer as to what was wrong with their little girl. Rett Syndrome is almost always found in girls. It is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Rett Syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. However, Deidre says Morgan’s case is a little different than most. Rather than the typical deletion of the gene found in most cases, Morgan has a duplication of the gene. Rett syndrome is a developmental disorder. It is not a degenerative disorder. It causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. Most, if not all of these are issues Morgan and her parents deal with every day. Prior to her diagnosis she had undergone two scopes trying to determine why she wasn’t gaining weight and growing like she should be. She suffered from severe acid reflux, and last December she underwent surgery and a G-button was put in. That is now her source for feeding and taking her medications. Typically, girls with Rett Syndrome display stereotyped hand movements, such as wringing. Unlike most girls with the disease, Morgan doesn’t like her hands together. Instead, she taps with one hand and usually puts the other in her mouth - and it is always the same hand. The right one taps, the left one in her mouth. It is also common for Rett Syndrome patients to suffer from seizures - which Morgan does. Deidre says Morgan generally has three or four seizures a day, which is down from what it was before starting her on the med she now takes for it. Because of all the seizure activity in her brain, Morgan doesn’t sleep well or for long periods of time. She gets up early, and usually just wants to watch TV for awhile. She gets her first dose of medication at 6:30 or 7 a.m., and is given medication several times throughout the day. Her days also consist of bath time, naps, play time and therapy four times a week. The occupational therapist comes to the house once a week, Mary Ross with McMeen Physical Therapy comes twice a week, and the speech therapist/early childhood educator comes once a week. Morgan also gets visits from another occupational therapist twice a month. On top of all that, Deidre takes Morgan to Omaha every 2-3 months for check ups. She sees the neurologist every three months, and has an EKG to check her heart and an EEG to monitor her seizure activity every six months. As one can imagine, the expenses for the traveling, doctor visits, and everything else adds up quickly. Friends and family members hosted a benefit for the family last October to help with these expenses, and Mary Ross said her office also wanted to do something to help. Special “Team Morgan” T-shirts were made up for the benefit, so Ross decided to use them to promote awareness for the disease and generate donations for the family. Everyone is encouraged to purchase a “Team Morgan” T-shirt (which can be done by stopping at McMeen Physical Therapy in Broken Bow) and wear it with your jeans for casual Fridays. Businesses are encouraged to set out a casual Friday money can in their business and employees put money in the can to wear their T-shirt and jeans to work that day. Anyone who would just like to make a donation to the family can do that as well at McMeen Physical Therapy. Morgan has two siblings - Chayse, 5, and Gage, 17. Though Deidre says Morgan loves her sister and brother, Chayse is a typical rambunctious 5-year-old, and Morgan - being sensitive to loud noise - prefers to go to her room when Chayse gets home from school. Though she only speaks two words now, momma and hi, Deidre says Morgan can definitely communicate what she wants. “If she wants me to change the channel on the TV, she will look at the remote then look at the TV,” says Deidre. “And when she hears her sister coming home from school, she just rolls her eyes then looks toward her room.” Deidre says many people have the misconception that girls with Rett Syndrome are mentally retarded. That is not the case. She says Morgan is able to understand, she is just not able to verbalize her thoughts. “If you just watch her expressions closely, you can tell what she wants,” says her mom. Rett Syndrome presents many challenges - in Morgan’s case Deidre says the main challenges are her seizures and Parkinson-like symptoms. However, with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. And love is clearly one thing this little girl is not lacking.