We didn’t realize it then, but our journey with Rett Syndrome began on my 33rd birthday. Tori Leigh Krauskopf was born on the 21st of February, 1998. Another 10 or so minutes and she wouldn’t have been the best birthday present I have ever received. She is the youngest of our three daughters and arrived after a pretty difficult miscarriage the year before.
The whole family was so excited to welcome her! The older girls helped us pick out her name and were looking forward to the fun of a new baby. She was such a good baby! She slept 5 hours at a time from the day I brought her home from the hospital. She was rarely upset and was content to shuttle around to all her sister’s softball games and cheerleading competitions. I did have a moment of panic shortly after her birth when I read an article about a famous football coach who finally added a baby boy to his crew after 4 daughters. His only son was a content baby, much like Tori, and he wound up being diagnosed with Down Syndrome. I ran into her crib and intently searched her face for tell-tale signs of Down Syndrome. After that little scare, we settled into a normal, or so I thought… life, but if I’m being honest my mother’s intuition never let me completely let go of the feeling something was wrong.
For the first 14-16 months, things went well. I was concerned about her not crawling or walking as quickly as her sisters, but her Pediatrician just waved my concerns away. She told me Tori just had too many mamas! She crawled and walked at the latest possible time within the “normal” parameters. Speech did not come as quickly as it did for her sisters either and when it did, she struggled to make her mouth mimic the words I said. She said Mama, Dada, and “boos goos” (Blue’s Clues) on a regular basis, but we would hear other words once, then never again.
Around this time Tori started having horrible, screaming fits. She would cry and lash out at you if you tried to console her. She would pull her own hair out and thrash about on the floor. The more you tried to distract her, the worse it got. These fits happened everywhere. When one would happen in a public place, I always told my friends, “I bet every woman in here just took TWO birth control pills!” She quit responding to her name and stopped maintaining eye contact. I’ve been a first-grade teacher now for 33 years, so I knew something was wrong. We thought for the longest time it was Autism.
We started making the rounds with neurologists and specialists. We received services from our local early childhood interventionists and when she turned three we started receiving services from the public school. No one would give us a diagnosis. We started traveling 3 and a half hours from our home to Houston to see a doctor that was considered to be one of the top neurologists in the country. On our second visit, he took a bunch of blocks, threw them on the floor, and watched as Tori picked them up and put them in her mouth. He then turned to us and said, “It can’t be Rett Syndrome, she uses her hands too well.” Our visit went downhill fast from there. I knew she wasn’t developing normally, but I needed some answers. I needed a label, mainly so insurance would help out, but also so I would have a name for this monster that was taking our baby away. We got in an argument, so he sent me to see their staff psychologist. She gave me a book to read called “After the Tears: Dealing with your child’s Disability”. When we left her office, I shoved the book at my husband and said through gritted teeth, “I don’t want to read THAT book! I want to read “After the Anger: Dealing with Pompous A** Doctors!”
At the end of the visit, he agreed to do blood tests to “rule out’ Rett Syndrome and Angelman Syndrome. The only person who was surprised when we received the official results was him. I never spoke to him or darkened his door again. He had his nurse call with the results and direct us to the Bluebird Rett Syndrome Clinic in the same area. While the diagnosis was traumatic, at least we now had a name for the monster. I don’t remember the date, but I remember exactly where I was and where I was standing when I got the news.
We went through a period of grief, which I naively believed we would deal with and move on from, but boy was that inaccurate! I remember the first time grief circled back around and hit me in the back of the head like a baseball bat. It was Halloween, shortly after we received her official diagnosis. I told my husband to take the older girls trick or treating and I would take Tori to therapy and head home. I had had enough Halloween with my first graders all day and I would just enjoy some quiet time at home. Tori and I left therapy and stopped at McDonald’s to get her a happy meal. As I sat in the drive-thru watching happy trick or treaters rushing about, I started thinking about Tori not liking Halloween—that led to “She won’t take dance or gymnastics, she won’t play sports, she won’t drive, go to prom, get married . . .” You get the picture. Anyway, by the time I got to order I’m crying. Sobbing actually. It was everything I could do to say, “I’d like a happy meal please.” I’m sure the poor guy taking my order thought, “Lady, I think it’s going to take more than a happy meal for you tonight!” I think it’s funny now, but it sure wasn’t then! I learned that night that the grief cycles back around now and then. It’s never hit me as hard as that night though because I think now I expect it to come around again.
Fast forward through the years. We’ve battled seizures, had a feeding tube placed, and dealt with too many gastrointestinal issues to count. She struggles with anxiety and sleep issues. We monitor her scoliosis. We’ve almost lost her at least once and we enter her room each morning and place our hand on her rib cage to make sure she’s still breathing. In spite of all she deals with, she is still happy most of the time. We believe she understands everything that goes on around her. She rolls her eyes, gives us the “stink eye”, and refuses to look at us when she’s mad. She has a wicked sense of humor and she is the fiercest little warrior I know!
She’s 21 now, which probably makes her an elder statesman of sorts. This battle hasn’t been easy, but it’s brought us many rewards along the way. We truly know what it means when people say, “Don’t sweat the small stuff.” We’ve met great people and been places we might never have gone without Rett Syndrome in our lives. I’ve laughed, cried, and grieved with the amazing bunch of folks that do the Disney Princess Half Marathon each year and along the way we’ve raised lots of money and awareness for Rett Syndrome.
I believe our girls are more caring and compassionate people due to having Tori in their lives.
They say a lot of marriages fail when a family deals with a disabled family member, but I have to say it’s probably saved my marriage more times than not. Kenneth has never flinched when it comes to taking care of Tori. He bathes, feeds, changes diapers, and does whatever needs to be done. He doesn’t see it as any big deal, but I know a lot of men who would never do the personal care things that Tori needs and that makes all the trivial issues in a marriage just fall away.
Dealing with Rett Syndrome is our normal. I’m just so happy that she is still here battling beside us every day. There will be a cure. I just pray that Tori is here and able to benefit from it!