Rachel

Rachel’s Story

by Anne & Paul

Rachel was born on August 4, 1986, before dup15q had a name. In early 1987, genetic analysis was done by taking a picture of Rachel’s chromosomes with an electron microscope, blowing up that picture, which looked like a plate of spaghetti, and then carefully cutting apart and reassembling the chromosomes and discovering that there was an extra piece. Before the internet and without a specific diagnosis, we did not meet anyone else with dup15q until Rachel was 13. When we explained  to our two younger children that we were all going to a meeting in Skokie, Illinois to meet other people with idic(15), Rachel’s 11-year old sister Lydia exclaimed, “a whole room full of Rachels – are you sure that’s a good idea?” We thought the best way to describe Rachel and her life would be to share things we wrote at various times. You’ll see a pretty big gap between her fifth year and her 22nd year – that’s because we moved and can’t find a lot of stuff. We have two younger children, Lydia, who is 23 and Chas, formerly Charlie, who is 20.

February 1, 1987 (6 months): To our friends and family: We have been concerned about Rachel since she was two months old, worried because she was not smiling, holding up her head, or looking at her hands as babies of that age should begin to do. When Rachel was four months old, our pediatrician shared our concern, and we began to take the steps that led to the diagnosis of Rachel’s problem, which is a syndrome called infantile spasms. We have seen Rachel take small steps forward developmentally since she has been on the ACTH. She puts her hands in her mouth and sucks on them, whereas before she did not have the coordination to get her hand to her mouth or to hold it there. We are hopeful about such positive signs, although we need to face the reality that Rachel will be greatly mentally and physically handicapped.

February 15, 1987: To our friends and family: Some interesting news (we don’t agree with each other as to whether it’s good or bad): the chromosome study has shown that Rachel has an extra one. Right now the geneticists are working on finding our which chromosome it is.

October 1988 (Two Years): To our friends and family: We know that you will share our delight in the safe arrival of Miss Lydia. As you might imagine, deciding to have another child required a leap of faith on our part. We believe, and have been told by people who have reason to know, that Rachel needs healthy siblings and we need healthy children. She looks around whenever Lydia cries and tries to pull Anne’s hands away when she is holding the baby. Rachel tends to plow her way through everything; her greatest asset is that she is a very determined girl. This determination, although always cute, can be frustrating when her goal is to open the china cupboard, inspect the garbage, or stir the water in the toilet. Rachel is not walking or standing independently, but she likes to be upright, pushing on a cart or a walker or climbing stairs, hanging onto handrails. When Rachel smiles and plays or pushes her walking cart around the house, it’s easy to let go of our worries about her future, so we do. There will surely be struggles ahead but the black times of 18 months ago seem long past.

January 1991 (three years, 6 months): To our friends and family: It’s really an overstatement to say that Rachel “talks,” because you can’t have a conversation with her. Her teacher points out that Rachel would like to chat with you (she gazes up into your face and says “Hi, hi, hi”), but her vocabulary lets her down. Rachel is very proud when she says a word that people understand: her face fairly glows with pleasure when you say, “That’s right, Rachel, that’s an eye (her current favorite noun).” However, wanting to communicate a problem and being unable to often leads to a more distressing recent development: raging temper tantrums which we have trouble helping her control. Vigorous physical activity, especially of the swinging or bouncing variety, is still Rachel’s favorite pastime. Although she stumbles and runs into corners and walls more than seems advisable, her walking it good, and she can run at a pretty fast clip. Our primary family entertainment is searching out parks which have playgrounds for swinging, climbing, sliding and running.

September 5, 1991 (five years): To our friends and family: Charlie’s arrival, coming as it has so close to Rachel’s fifth birthday, prompts us to write. It seems incredible to us that Rachel could be that old. She continues to make slow progress; her main achievement this year being enlarging her vocabulary. Still, she seems to understand that speaking is useful and she appears somewhat less frustrated now that she can often get us to understand her needs and desires. Her temper tantrums had decreased from 2 or 3 a day to three or four a week by the end of summer (a big improvement), but Charlie’s arrival seems to have provoked a relapse. In the first few weeks that Charlie was home, his cries would send her into hysterics, but she is gradually getting used to the noise he makes, although she still looks mournfully from him to us, wondering why we have done this to her. She met every goal in her IEP last year (except for potty training – sigh!), thanks to her teachers’ expert coaching and her own strong determination. She continues to like big motions, especially jumping and being thrown in a pool. She is beginning to “swim” and loves to float and tread water.

December 15, 2008 (22 Years): To the Secretary of the State of Wisconsin Agency where Rachel works: We are the parents of Rachel Karch, a 22-year-old woman who began working in your Bureau of Customer Service and Licensing this fall, supported by Community Works. We are writing to thank you and your staff for your tremendous support of Rachel. Her job means a lot to her and to our family. Rachel is physically strong and has stamina and determination. She is capable of focusing on tasks but can also be quite contrary. We think Rachel likes to do something useful with her time and that she knows when she is working on a job. She had some pretty rough days in starting her job at the DNR but your staff in the Bureau have been extremely supportive. Rachel’s life has improved dramatically since she began work. Her behavior is more organized and she is happier. She enjoys seeing and talking to the people who work with and around her. Spending time in a community of people beyond her family and caregivers gives her new energy. As we do for our other children, we hope that Rachel will have a job that will be of service to others and challenging and fulfilling for her. We are very grateful to all of you who are giving her the chance to have that job.

February 1, 2009 (22 years): To the residents of Arboretum Cohousing where Rachel lives: Rachel is 22 years old and loves celebrating her birthdays. She also likes to sing, mostly nursery-rhyme type songs like “This Old Man” or “C is for Cookie,” but also “Cheeseburger in Paradise” and “Where have all the Flowers Gone?” Rachel’s other favorite things are to jump on the trampoline, swim, play with toys, swing, and go for walks. Rachel likes people, and they usually like her. She likes the community part of Arboretum Cohousing where she has so many friends who can greet her by name. She loves to hear people say, “Hi, Rachel!”

September 1, 2010 (23 years): Information for Rachel’s caregivers: Rachel is very active, and she needs you to be active with her. She is petite but very strong; she’s all muscle. It helps her to get lots of exercise, so you need to be prepared to take her on walks, push her on swings, ride bikes (a side by side recumbent model) and, if you’re working the afternoon shift, go swimming with her. Rachel talks some, but not a lot, so it will take you a while to feel that you know her. We like to encourage her to talk as much as possible, so you will need to talk to her and about what she’s doing, even if she doesn’t respond.

February 2012 (25 years): To our friends and family: 2011 was a milestone year for Rachel; she turned 25 in August. In some ways, it’s hard for Paul and Anne to believe that a quarter of a century has passed since we became parents. In other ways, we definitely feel that old! Except for a few too many trips to the ER for stitches, it was a good year for Rachel. She continues to live in her own house with the help of a great team of caregivers. Rachel works mornings at the Wisconsin Department of Natural Resources, where she participated in Take Your Legislator to Work Day in November. Her state assemblywoman was so impressed that she said, “Every legislator should go to work with Rachel!”