Diagnosis Letter

When our Claire was tentatively diagnosed with Rett Syndrome at age 2 1/2, we were devastated. We knew we would need support and we knew that we would need to tell our loved ones what was happening to our precious girl. We decided to send a letter to everyone explaining Rett Syndrome and how it affected Claire and our family. Several years earlier, a family friend had sent a similar message when his newborn daughter was diagnosed with Down Syndrome, and we modeled our letter after that one. Reaction to the letter was positive, and we were glad we sent it. The original text of the letter appears below. See Claire's Page for a history of the progress she's made since this sad time in our lives. Note that at age 30, she was correctly diagnosed with Phelan-McDermid Syndrome, which is similar in many ways to Rett Syndrome.

January 1992

Dear Friends and Family,

On 1/15/92, Claire's neurologist gave her a diagnosis that explains all of the symptoms she has had since she was a baby and the new symptoms that have appeared since shortly after she turned two. It is called Rett Syndrome and it is a serious genetic disorder that affects only girls.

Children with Rett Syndrome appear to be developing normally for the first 6 - 18 months of life, followed by developmental delays. Between 18 months and 3 years, these children begin to lose their ability to communicate and to use their hands for useful things. They also lose interest in toys and in social interaction with others. They spend a lot of time wandering aimlessly or sitting with a vacant stare. They have difficulty chewing properly. Many girls with Rett Syndrome have seizures of some form. When the girls get older, most develop scoliosis. They appear to be mentally impaired to some degree and many of them will lose their ability to walk.

Claire developed normally until about six months. She didn't learn to sit or crawl until receiving physical therapy at 10 months. She learned to stand at 20 months and to walk unassisted at 23 months. She said her first meaningful sounds last August at 25 months. Since September 1991, her language skills and fine motor skills (use of the hands) have deteriorated. She no longer points, uses sounds, or uses the sign language symbol for "more." She communicates by looking at or standing near what she wants. She can no longer pick up finger food with her thumb and index finger; she must "rake" her food with her entire hand and hope to pick up some food with her palm or some combination of thumb and fingers. She has never been able to eat well, because she cannot chew properly, so she can only eat things that she can swallow whole or soften in her mouth. Her personality has changed from friendly and active to withdrawn and shy. She no longer plays with toys, and only enjoys videos, books, and roughhousing. When we are roughhousing with her or reading her a book, we see her as she used to be, but most of the time she prefers to wander, lie down, or watch videos.

We are devastated by this diagnosis, but in a way, we are relieved to finally have a name for her odd collection of symptoms. Cerebral palsy was a great diagnosis for a while, but it didn't explain her speech and language delays, her difficulty eating, or her recent loss of skills. Rett Syndrome includes all of her current symptoms, so we feel that we have come to the end of the road in trying to get a correct diagnosis.

We know that we have a difficult road ahead. We will have to watch our little girl regress, and see hard-won skills disappear. We will continue to have large medical bills and we will need to buy expensive equipment for Claire as her skills continue to deteriorate. Claire will require ongoing therapy and care for the rest of her life, which is not expected to be shortened by this disorder. We may never be able to toilet train Claire or have her eat properly. However, we no longer have an impossible goal of trying to make her be "normal." We now have a much more manageable and realistic goal, and that is to help keep her functional and to give her the best life possible.

This is a big blow to us and to everyone else who loves Claire. Please feel free to ask us questions about Rett Syndrome. Don't be afraid to ask how she is doing, but don't expect positive answers about a miraculous recovery. Just treat Claire like a regular child as well as you can, and don't be discouraged when she doesn't respond as you'd like. She loves roughhousing and she loves to have her favorite books read to her. She likes to go for walks indoors and outdoors. Don't worry if you find it easier to play with Jill than Claire, but please make an attempt with Claire if she seems receptive.

We will probably need occasional emotional support in the future, as the severity of Claire's disability continues to sink in. You can help us best by listening when we need to talk. Please don't try to cheer us up by telling us it isn't that bad or it could be worse or that she's not that different from regular kids, because it is a horrible situation and she is very different. We hope that we can be positive about this, but please bear with us when we aren't very fun to be around.

If you would like more information on Rett Syndrome, we have literature we would be happy to share with you. Rett Syndrome is a fairly new disorder, which was first noted in Europe in the 60s and was introduced to the U.S. in 1983. There are many, many affected children in the U.S., and there are several cases of it in Indianapolis, so we are not alone. There is also a Rett Syndrome Association, so they will be a valuable source of information to us, too. We are grateful that Claire's disability can be diagnosed; children born 15 years earlier could not have been diagnosed this early. Now we know what to expect, so we can be better prepared as Claire's condition worsens.

We apologize for the formality of a letter like this, but we felt that this would be the quickest and most accurate way to inform as many people as possible. Please feel free to call if you have any questions or concerns we didn't cover in this letter.

Thanks in advance for your understanding and support,

Greg, Debbie, Claire and Jill