Dealing with Rett Syndrome
Table of Contents
Messages from Fellow Parents
Dear Families,
It’s hard to know the right words to share with your family now that your precious child is diagnosed with Rett syndrome. There are so many difficult emotions to process. One of the most devastating feelings we experienced with the diagnosis of Rett syndrome for our daughter Angela was the loss of the “normal” life we expected. You may wonder, as we did, if your family can ever be normal with this new challenge?
The answer to that is “yes.” Normal may not look exactly as it did in the dreams you held when you anticipated the birth of your child, or during the time before regression when her skills developed naturally. It may take more work, more planning, and more faith, but life can go on as you adjust for the challenges Rett brings.
There are many factors that go into finding a new sense of “normal.” One of these is time. You need to give yourself permission to grieve lost dreams, while still offering your child the security of familiar routine and happy distractions from the changes going on inside her body. You may find it helpful to reach out for help from clergy, counselors, or other Rett families, especially during this adjustment period.
It will help if you balance your expectations with the reality of your situation. If you can clarify the goals that are important to you, then how you reach them takes on less importance. Our family has learned to accept a slower pace of life that comes with impaired mobility and stamina. We give ourselves longer time to do fewer things. We probably over-prepare for the unexpected, but it saves us from crisis. We have learned not to over commit our plans and to be gentle with ourselves if we have to change them.
There are many styles of coping, and finding one that is positive and constructive will benefit your daughter and your whole family. For our family, creative problem solving has become a route for coping that feels healthy and energizing. We’ve become quite creative in adapting toys, clothing, recreational equipment, and leisure and computer activities. We look around with new eyes for inexpensive, creative solutions to the challenges of daily living. I gain energy from trying to work out the challenges of communication output and academic access for my daughter. So many issues that seem at first to be barriers can actually be opportunities to put our creative minds to work.
You may find that as you become comfortable living with Rett syndrome, you will be able to take on goals that seemed impossible early on. We had once thought a vacation in Hawaii would be outside our options for travel with Angela, but with planning, preparation, and adjusted expectations, our family enjoyed a truly delightful trip. It reminded us that life with Rett need not be full of “can’ts,” but that life is a matter of asking “how might we…?”
Wishing you our very best,
Rose-Marie and Don Gallagher, Angela and Rebecca
don_gal@comcast.net
Dear Parents,
Many parents of a child with Rett Syndrome will one day find themselves facing the decision of whether to have more children. As Rett parents, we discovered that this seemingly straightforward question is really anything but – it demands thoughtful deliberation and careful weighing of a host of difficult considerations, both real and theoretical. We hope that sharing our personal experience might help others who find themselves grappling with these same issues.
Several months after the initial shock of learning that our first child, Jillian, had Rett Syndrome, we tried to imagine what our family would eventually look like, and whether it would bear any resemblance to the one we had always envisioned. Before Jillian was born, we had numerous playful arguments over whether we would have two or three children (even though we both knew it would be three), and we had already decided that our kids would be born about two years apart – close enough to be friends, but far enough apart to foster individuality. Of course, as every Rett parent knows, life doesn’t always respect such carefully-laid plans.
For the first several years after the diagnosis, we devoted all of our parental energy towards Jillian. The thought of expanding our family was the furthest thing from our minds. We knew we could have a happy, fulfilling, complete life with just the three of us. But as we slowly settled into a steadier, more manageable routine, we also allowed ourselves to once again think about bringing other children into the family. This time, however, there were new, more difficult questions to consider: Would we be at risk of having another child with Rett Syndrome? Would we still be able to give Jillian everything she needed? Would other children understand that life with a disabled sibling isn’t always fair?
These are complex, anxiety-inducing issues that we did not take lightly. Over many months we gave the matter the serious consideration it deserved. Gradually we came to the conclusion that this was, in fact, something that we could (and should) do – that our family had room for more. So, five years after Jillian was born, we welcomed her baby brother Drew to the world. And two years after that, Jillian and Drew had a new baby sister, Kara.
We’re happy to say that our anxieties proved to be largely unfounded. The decision to have more children has clearly benefited Jillian. She interacts with her brother and sister in ways that are entirely different from Mom and Dad. While we provide the necessary structure and support, Drew and Kara offer an element of unpredictability, entertainment, and energy that we simply can’t match. Jillian clearly loves her siblings, and her life is richer for it. It’s comforting for us to know that Drew and Kara will always be a vital part of Jillian’s life.
But Jillian isn’t the only beneficiary of this new family dynamic. We already sense that her condition is fostering desirable characteristics in Drew and Kara – things like patience, understanding, empathy, and gentleness – that even our best parental efforts alone could not have achieved. Although it’s not exactly easy, and difficult days no doubt lie ahead, we are so grateful for the benefits our children have realized from simply having each other.
We don’t know if our experience is universal, or even typical. But we hope we’re in a position to offer a bit of unsolicited advice: If you always pictured a future with more children, keep a spark of those thoughts lit, even when the reality of Rett Syndrome threatens to overwhelm you. Some day (although probably not the exact day you originally planned) you might find yourself returning to those dreams, and realize that there’s room for another smiling, happy face.
Our very best wishes,
Colleen and Jeff Peterson
Dear Parents,
My name is Jennifer Endres and my husband, Justin, and I have a daughter with Rett Syndrome. Our daughter, Jillian, was born on February 26, 2003. Jillian was diagnosed in the summer of 2004 at the age of 17 months. From the first hint that something was not right to the day of the diagnosis it was 11 months. 11 months of worry, confusion, disbelief, and shock. Jillian’s diagnosis came in stages for us. We were first told that Jillian had low muscle tone and needed to have physical therapy. A month or two later, Jillian started having seizures. A month or so after that it was decided that Jillian was just developing a little late and possibly she would have the label of developmentally delayed. Knowing in our hearts it was something more we started doing more and more research and visiting more and more doctors. The words Rett Syndrome were first mentioned about three months before the actual diagnosis. My husband and I will never forget Jillian’s pediatrician saying “You don’t want it to be Rett, anything but Rett.” Those words haunt us to this day. After a week-long stay at Children’s Hospital in Boston and several tests and evaluations later, on July 23, 2004 at 3:00 pm on a beautiful summer afternoon, we heard the words we were not ready to hear. Jillian has Rett Syndrome.
As I know you are aware, hearing that your child has something wrong with them is devastating. My husband and I had prepared ourselves even before Jillian was born that if something was not right we would deal with it the best we could. Like any expectant parents, we were aware that there was a chance our child could possibly have something wrong. Nevertheless, we were thrilled and optimistic that everything would be ok with our baby.
Well, Rett Syndrome was not something we had prepared ourselves for. We never imagined our sweet, beautiful, and full of life little baby girl would be unable to talk, be unable to walk or crawl, have no use of her hands, and have severe medical issues for her entire life.
Rett Syndrome has taken away so much from us, from our family, from our friends, and especially from Jillian. It has taken away the joy of seeing Jillian run in our backyard. It has taken away our opportunity to hear Jillian tell us she loves us. It has given us worries about her various medications she must take daily, about whether or not she will have a seizure that day, and if she is happy and content since she cannot tell us. Rett Syndrome has taken away what we envisioned the future to be for our family.
However, my husband, my family, my friends, and I have all been changed for the better now that Jillian is in our lives. She has taught us all to be thankful for what we have and what we are capable of doing. She has taught us that a smile is worth more than a million words. She has taught us that you can love someone so much, more than you ever have loved anyone, even if you cannot hear her voice. She has also taught us about patience and perseverance. Jillian has taught us that bad things happen to good people and that good people can make something wonderful out of it.
Rett Syndrome has taken us on a journey that we never imagined being on. It has taken us into a community that we never imagined being a part of. The journey and the community are things that we are very proud of. Since Jillian’s diagnosis my husband, my family and I have been very active in learning as much as we can about Rett Syndrome. We have also become very active in raising money for the Rett Syndrome Research Foundation, as well as raising awareness of the disorder. We feel proud and honored to be a part of this group. RSRF is at the forefront of Rett Syndrome research. RSRF is our hope for the future of all girls affected by Rett Syndrome. RSRF has scientists, researchers, and doctors working around the clock to study this disorder and to hopefully one day find treatments and a cure for Rett Syndrome. Without RSRF, there would be no chance for our girls to someday walk, or tell us they love us, or feed themselves, or hug their family members. We need to have this hope. We need to have the hope that one day we will hear the words, “We have found the cure for Rett Syndrome.”
Yes, we have accepted the fact Jillian has Rett Syndrome. However, we have not allowed Rett Syndrome to ruin or take over our lives. We try each and everyday to make Jillian’s life as happy and comfortable as possible. We smile when she smiles, we laugh when she laughs, we give her a big, wet kiss when she gives us one…we truly enjoy every moment we have with our daughter. We love her more than anything in the world. I never really thought about the saying, “everything happens for a reason” too much before Jillian’s birth. However, a few months after Jillian’s diagnosis, I realized it is very true. I know why Jillian was born to us. We feel so lucky to have her, to love her, and to help her.
I wish you, your daughter, and your family the best. Keep your chin up and hopes high…
Sincerely,
Jennifer Endres
Mom to Jillian Katherine, RTT
Hello!
We knew early on that something was amiss with our little granddaughter. At first the signs were subtle. We chose to believe that she had low muscle tone. We chose to believe that she was developing a little slower than most babies. We chose to believe that it would all be all right. When my daughter called with the diagnosis we all cried. We wept with sadness and anger and disappointment and fright. We grieved for all the things that were not to be for our beautiful granddaughter. We would never hear her voice, see her play tag with other children, ride a bike, rollerblade, play sports or walk down the aisle at her wedding. In addition, our pain was doubled as we watched our child and her husband try to deal with this monumental, life altering situation. As the days passed we all found our own ways to cope with and accept this curve ball that life had thrown us. We read and studied and talked with people who knew so much more than we did. Sharing our pain with those who understood somehow made things a little easier. As we learned more and more about this devastating disorder the days passed. We watched little Jillian grow and our love for her grew as well.
Her little personality began to emerge and we could see that she has a wonderful sense of humor. Her ability to light up a room with her smile is amazing. She has so much personality and although she is unable to speak she says volumes with her beautiful blue eyes. She, along with the other “patient angels”, relies totally on others to meet her every need. She brings joy to all who come in contact with her. She has brought together our family and our community. She has brought out her parents’ strength and courage and sense of advocacy. Every day she teaches us about determination and courage.
At three years old Jillian might not be riding a Schwinn bicycle but she does sit proudly on her own adaptive bike. She might not sing to us but she entertains us with her love of music. She might not run on the playground but she enjoys school and her classroom of friends. To see Jilly and her friends with their wheelchairs in a circle is to behold a circle of love. Not all children have special needs teachers and physical and occupational therapists. Our Jilly does and now we, too, have new special friends in our lives. These are wonderful, caring, nurturing people who we would not know if it weren’t for Jilly. We are richer for these friendships.
Yes, there are still moments of sadness but they are fewer and farther between. We celebrate milestones differently than parents and grandparents of healthy girls but we DO celebrate. Jillian is a blessing in our family. We revel in small milestones and we get so excited when we hear of new breakthroughs in Rett research. We are happy. We are hopeful. We are blessed. We hope that you and your family find strength and comfort and the ability to live with your patient angel knowing that she is a special gift.
Most sincerely,
Caron Welch
Grammy to Jillian Endres (RS) 3 yrs. old
A Parents Perspective
By Dan Brinkhaus
Our Gift
Our gift was new life. The sheer wonder and miracle of her was undeniable. We recall it vividly, the morning that she was born. At that very moment in time at which she whined herself into this world, it resembled the ring of a fantastically harmonious choir. And though not yet known to us, our gift was extra-special. For this little angel was earmarked, a precious gift, sent unto us by God Himself. And in that instant we were blessed, we were humbled and we were graced with her presence.
Our Sorrow
Our sorrow was profound. It arrived to us swiftly & unexpectedly on that tempestuous spring afternoon. No words can accurately describe the anguish of it. Our world was uprooted, as north became south, and the universe turned onto its head. Our minds rebelled, and our hearts despairingly protested. The dreadful diagnosis had firmly clutched our dream and wrenched it away.
Our Journey
Our journey is Rett Syndrome. There is no sugar-coating its hardships. The fact is that the physical sufferings and the emotional tensions are both embodied expressions and ferocious forces of Rett Syndrome. Yet in the face of these great challenges, we find amazing ways to endure. It is indeed our shared destiny. Our journey’s guide, our beloved angel with her infectious smile and her courageous spirit, contentedly leads our way. Our journey’s path, once shadowed by the shock of that dreadful diagnosis, is now crystal-clear. It is to endure. It is to provide. It is to celebrate the amazing spirit that is her. Our journey is an extraordinary one.
Our Hope
Our hope is alive. It vivaciously breathes within her. Inspired and ripe with optimism, we imagine that someday every family will live in a world without Rett Syndrome. We must all help make it so. The brilliant minds and ambitions of our worlds leading scientists are on our side. And they are leaving no stone unturned. For where there is understanding, there is hope. The certainty of a cure will soon be realized. Her prize is our promise. It is a cure to Rett Syndrome.
Dan and Lisa Brinkhaus
Dear Parents,
I am not a patient person. My 14-year-old daughter has Rett. I want her cured. Today.
You want the same for your child. As you become familiar with RSRF, you’ll find out how much funding it has invested in research, how many labs are looking for answers and how the people behind this organization will never stop until our girls are cured.
When my daughter was diagnosed in 1997, two years before the gene that causes Rett was identified, I wondered what was being done to find medical interventions for her. I discovered that only a handful of labs was searching to find the gene and that barely more than a few hundred thousand dollars was being spent on research.
I also found out that biomedical research is expensive, slow, tedious and competitive. I wondered how or even if a relatively unknown disorder affecting a small group of mostly girls would ever be cured.
Fortunately, six parents who were also discouraged with the lack of pro-active research formed the Rett Syndrome Research Foundation. They could have decided to simply raise money for research, which would have been an admirable goal, but they didn’t stop there.
RSRF has established a special grant designed to keep promising research flowing as well as holding an annual scientific symposium to foster communication among researchers. And, the foundation contacts researchers worldwide to share up-to-date information and promote Rett research.
Consequently, millions of dollars have been invested in research and dozens of researchers have joined in our quest.
When my family is having a particularly challenging “Rett” day and my patience with this disorder is non-existent, I try to remember all of these points and the commitment RSRF has made to my daughter and yours.
My heart is broken that you and your family have had to join this world of Rett, but my hope is that you will find comfort and reassurance in these pages and knowledge that so many people are patiently and painstakingly working for the cure.
Kristy Kramer
My Dear Friends,
My 17 year old daughter Amie was misdiagnosed for 11 years. When she turned 13 we started to question her diagnosis because she was not making the progress her doctor said she would make. We got a second opinion and blood work confirmed she had RETT syndrome. We were devastated. Amie was not like any of the girls I had read about with RETT, she walks,talks and eats without much difficulty. I wondered would she lose these abilities? The answer was NO! She was taken off all the medication she had been for her previous diagnosis. We moved on with much anxiety. We began searching the Internet for support and found a wonderful group of woman who had the same anxieties and fears as I had. RSRF was a lifesaver for me. We share our fears daily turmoil's ,our solutions and hope that a treatment and cure will be found for this life-changing syndrome.
As Amie gets older I do wonder what life would be like without RETT, her proms her wedding and her being a Mom herself.Those are all the dreams I had for her when she was born. Now as things turn out we are following Amie's plan and when I am having a bad day the smile she gives me lets me know that life in Amie's world is good. We will survive by taking one day at a time.
Sincerely,
Kay Maynard
Amie's mom
Resources
Websites
- http://www.fathersnetwork.org/ -- a network of support groups for fathers
- http://www.familyvillage.wisc.edu/index.htmlx -- a general online disabilities support with links to listserves
- http://www.disabilityresources.org/index.html -- Disability Resources, a nonprofit established to promote and improve awareness, availability and accessibility of information that can help people with disabilities
- http://www.eparent.com/ -- Exceptional Parent
Listservs
Rett Syndrome Forum
The Rett Syndrome Forum is a moderated e-mail discussion group connecting parents and others interested in Rett syndrome. It is a forum for questions, support, advice, research, discussion and announcements.
To subscribe, send mail to
LISTSERV@LISTSERV.BROWN.EDU
Rettnet
The RettNet is a moderated forum run by the International Rett Syndrome Association (IRSA) for anyone with an interest in Rett Syndrome. To subscribe please visit the IRSA website at www.rettsyndrome.org
Books
You Will Dream New Dreams by Stanly D. Klein, Ph.D. and Kim Schive
Dancing in the Rain by Annabel Stehli
Changed by a Child by Barbara Gill
Special Kids Need Special Parents by Judith Loseff Lavin
From the Heart (On Being the Mother of a Child With Special Needs) by Jayne D.B. Marsh
Fragile Innocence: A Father’s Memoir of His Daughter’s Courageous Journey by James Reston
After the Tears : Parents Talk About Raising a Child With a Disability by Robin Simons
The Rett Syndrome Handbook by Kathy Hunter
Medical Management
For many families, Rett Syndrome is our first exposure to the system of medical care. It can seem large and complicated, especially at the time of diagnosis or if unexpected medical issues emerge. We must take an active role in coordinating medical care within a system that may be unfamiliar or feel overwhelming. Fortunately there are practical steps families can take to navigate the world of medical management more comfortably.
One important step in managing medical services is to keep records organized and accessible. While your child’s doctors will have files about her care, you will also need copies for a variety of reasons. One resource you might consider is a CARE notebook that can be downloaded free of charge at
http://cshcn.org/carentbk.cfm. This notebook explains what records are important to keep and provides a place and structure for filing your information.
Colleen and Jeff Peterson
