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The Doctor Shuffle, Diagnosis Rett Syndrome
My husband and I have been married for 17 years and we have two children, as well as a baby in heaven. Our daughter, Sara, is fifteen years old, and at age two she was diagnosed with Rett Syndrome, a rare disease. My husband has a small business and works his own hours so that he can be here with us more and also so he can take time off when Sara is in the hospital or having a hard time. I stay home and do office work for him and his business.
Life with Rett Syndrome has had its ups and downs. Sara was born seemingly healthy with no hint of any problems. She was eight pounds and two ounces of pure perfection. She had soft, fair skin, bright blue eyes, dark brown hair, and little pink lips. She was born holding our hearts in her hands, we were in awe and in love with her. We brought her home and all was well for about four months. Then she started having reflux and projectile vomiting just about every time she ate. The doctors thought she was lactose intolerant and started her on a lactose-free formula which made me sad as I was still breastfeeding her. But the formula did seem to help. Around six months old, we realized that she wasn’t doing things she should be doing. Her doctor said that some babies simply take longer, not to worry. By eight months old, she was diagnosed with a global developmental delay and had started physical and occupational therapy.
We call the period of time between eight months and two years old the “doctor shuffle”. She started having muscle weakness and therapy simply wasn’t helping her. She was crying a lot and nothing seemed to calm her. It was really hard. During this time, we were being sent to so many different specialists for so many tests that yielded no answers as to what was causing our baby so many problems. We were finally referred to the Greenwood Genetic Center, and by the end of our first appointment, the doctor had an idea of what may be going on. He drew some blood from Sara and sent it for testing. A month later it was confirmed that she had Rett Syndrome. When the doctor called to give us the news, he made an appointment for us to go in and learn about the condition and what it meant. He told us to bring anyone who would like to learn more or just be there for support.
The day of that appointment is unforgettable. My hubby and I, Sara, her grandparents, and her aunt were there. We sat together in this big room with a group of doctors. They told us her diagnosis. Rett Syndrome encompasses the symptoms of Autism, Cerebral Palsy, Parkinson’s, Epilepsy and Anxiety Disorder… all in one. The doctors gave us a brief genetics lesson explaining there is no known cause of Rett Syndrome. They told us the symptoms and the difficulties she would face. They outlined the things she would struggle with and the things she would likely never do. Rett Syndrome causes seizures—sometimes mild, sometimes uncontrollable—scoliosis, muscle weakness and stiffness, feeding problems, weak bones, loss of skills, loss of hand use, loss of speech, apnea, hyperventilation, anxiety, tremors and more. They warned that these symptoms would start soon – and they did.
The doctors told us that Sara may live into her teens or early twenties, or she could pass unexpectedly without warning. They told us there was no cure, to take each day as it came and to treat issues as they arose. If we felt like we couldn’t handle all of this we could place her in a residential facility.
We left there feeling crushed and overwhelmed, uncertain of our daughter’s future – did she even have one? I immediately felt like I had lost my daughter, like I was grieving a death that hadn’t yet happened. In a way I was. I was grieving the loss of hopes and dreams for her. Walking her into class the first day of pre k, hearing about her days at school, hearing her say anything at all, watching her play at the park, sleep overs, first crushes, first dates, prom, sending her off to college, a beautiful wedding, her having her own children one day – all gone. Gone and replaced with endless doctors appointments with varied specialists and therapy appointments and praying she is still with us each morning.
Time went on and somehow we got through those first few weeks, then months, and now years after the diagnosis. We realized that while, yes, she has Rett Syndrome, she was still the same precious child that we had had before the diagnosis and all we could do was love her like crazy and do all we could to help her. Shortly after that unforgettable meeting, as the doctors told us, Sara lost the ability to feed herself, lost the few words she had and stopped rolling over. Now 15 years old, Sara has never sat up on her own, never crawled, or stood or taken a step on her own. She has had fourteen surgeries in her fifteen years. She had her feeding tube placement, gall bladder removed, hip surgery, and multiple back surgeries because she has severe scoliosis and the curve of her spine was so bad that it was squishing her stomach causing vomiting and also restricting her left lung and its growth. In 2009, we were told that she needed back surgery or we could “let nature take it’s course”. We opted for surgery.
They placed two rods in her back to hold up her torso and relieve the pressure on her stomach and lung until she was old enough and big enough to do spinal fusion. The surgery went fine, we thought, but one rod had gotten infected and had to be taken out. They then had to do a small surgery every six months to expand the rod a little because she was growing taller. Finally, in 2015, Sara was able to undergo spinal fusion surgery. There were complications with pneumonia and MRSA afterwards which kept her in the hospital for three weeks. She recovered and has thankfully been doing well ever since.
I think one of the hardest parts of life with Rett Syndrome is Sara not being able to speak. She can’t tell me what is wrong, if she is hurting and where, if she is tired, what she did at school, what movie she wants to watch or if she simply has an itch. The doctor appointments seem constant but we are thankful that there are specialists who can help her.
Sometimes it is hard for my son, Logan, as well. When Sara is in the hospital I always stay with her and he stays with his dad or his grandma. We miss each other a lot. We also can’t just get up and run out the door for a playdate or a trip to the park. Our plans revolve around if Sara feels up to going out, and is the place accessible? It is HARD. Logan is very understanding though. He may be let down a little, but he understands. He already has such a kind heart and loving personality. We hope that by him growing up with Sara, he will be a compassionate adult and realize that he is blessed and hopefully he will want to help others.
Rett Syndrome is a horrible condition that has caused many problems for Sara and complications for our family. Of course we wish it was otherwise. Yet, this child continues to defy the odds. Sara also has a lot in common with other typical fifteen year old girls. She loves to go shopping, enjoys school, likes cute clothes, loves music and movies, enjoys visiting friends and family, likes cute guys and is a shameless flirt. Despite all she has been through, she is a happy young lady most of the time. She is tough as nails, a true fighter, and the sweetest child I have ever met. Yes, she has days where she is fussy and cries, but most of time, Sara is content, smiling, and even laughing. She gives some fantastic hugs and kisses that melt your soul and turn the worst day completely around. I often tell her that her smile is so sweet that when God was making her an angel must have been walking by and He used the angel’s smile as His inspiration for her smile.
Sara has brought so much goodness into our lives that clearly outweighs the struggles and hard times. She is a blessing and a joy.
Toyna Hanna is mom to Sara, Logan and a baby in heaven. Sara, 15, was diagnosed with Rett Syndrome at the age of 2. Tonya shares their family’s story in the hope of others receiving an earlier diagnosis and leading to increased support and services.
You can follow Sara’s stories on her FB page, Love for Sara.