Rett Syndrome: A Story of Love and Courage From a Great Mother

This blog is dedicated to my son, Grant Robert Simard, who has been the best son and brother that anyone could ever hope for.  Miss Ashley B. and I are very proud of you and we love you so much. 

Rett Syndrome is a neurological disorder, occurring most often in girls. Typically, your child will develop normally, and then between six to eighteen months of age will regress, losing skills that have been acquired.   Rett Syndrome robs your child of the ability to speak, to walk, and to use her hands.  With Rett Syndrome your daughter may suffer from seizures, scoliosis, and Long QT Syndrome.  Breathing abnormalities can be found in girls with Rett Syndrome. 

It seems like Rett Syndrome has been a part of my life as long as I can remember.  I have distant memories of what life was like before Rett Syndrome and who I was and it is as though that is another person, a stranger that I do not know.  The hopes and dreams of what it will be like to be a parent can sometimes turn out to be just that; hopes and dreams.  Hopes and dreams that can never be fulfilled regardless of how much you want them and how much effort you put into making them happen.  Expectations, that at some point you realize were never meant to be.

For me, having children was really all that I ever dreamed about.  A chance to make up for the not so great childhood I had, and care for my children the way children should be cared for.  That fall night, 24 years ago, when I found out that I was expecting my first child was the highlight of my life.  I have never experienced that feeling since then and sometimes over the years when I have thought of that night, I cringe at how naïve I was not knowing what was in store for us.  Not knowing that fate was going to take me to places that I did not want to go and that I never thought possible. 

Miss Ashley Bernadette was born on June 18, 1988.  She was beautiful and perfect in every way.  At just a few months old, she made great eye contact and people used to comment on how social she was. She loved the camera and would always smile during pictures.  Although Miss Ashley B. was quite social even at an early age, she would have uncontrollable periods of screaming. The screaming could last for hours and there was nothing that I could do to console my daughter.  I felt so helpless.  I started taking her to the pediatrician on a weekly basis, begging for him to help my daughter, who seemed to be in some sort of pain. The pediatrician told me there was nothing wrong with my daughter and that maybe I should take some parenting classes.  I was devastated. 

As the months went on Miss Ashley B. would continue to have times of either extreme happiness or extreme agitation and although she seemed to be developing normal in many ways, she was still not walking at fifteen months of age.  We went to a specialist and were told that it was just taking her longer to learn to walk.  At sixteen months of age she started to walk and was still very social. When we went back to the specialist he said she was doing great and right where she should be developmentally.  But between the ages of sixteen months and eighteen months, something happened to my daughter.  I don’t know where she went, but she left me.  She was still with me physically but she would no longer look at me.  If I sat next to her, she would get up  and move.  She started rocking and humming.  She was in another world, a world so far away, there was no way to reach her. 

By this time I was expecting my second child and I was exhausted and terrified knowing something was wrong with my daughter.  She never slept and would scream and hit her face  for hours and hours on end.  We went back to the specialist when Miss Ashley B. was twenty two months of age.  And what we heard that day, the worst day of my life, was that my daughter was “developmentally delayed and would never be able to be on her own or take care of herself.”  That day, April 20, 1990, it was pouring rain.  I was seven months pregnant and I remember taking my daughter home that day and crying for days.  I did not understand what had happened and I could not even look at her.  My daughter was gone and she would never return.  I was left with this child whom I did not know. 

As the months went by, although I could not accept the fact that my daughter was disabled, I did learn to love this new daughter more than I ever could have imagined possible.   My son, Grant, was born.  A sweet, calm, beautiful baby, who had already experienced an emotional roller coaster before he was even born.  Although loved more than life itself, he would unfortunately take a back seat his entire childhood to his sister with so many needs.  Miss Ashley B. was continuously losing skills, one by one.  She was so frustrated not knowing why she could one day be able to do something and the next day she couldn’t.  Slowly she lost all of her speech. Slowly she lost her ability to use her hands.  And slowly she would continue to lose her mobility that at one time many years earlier, had been such a victory for us. I was very focused on finding a name for this mysterious disability that had taken my daughter from me, and so the search began.  Rett Syndrome was something that was mentioned when Miss Ashley B. was first diagnosed with a disability, but every physician and every hospital that I brought her to, ruled out Rett Syndrome.  From the moment I first heard the words Rett Syndrome and read about it, I knew that is what my daughter had.  And finally when Miss Ashley B. was seven years old, she was diagnosed at Kennedy Krieger Institute in Baltimore, Maryland by Dr. Naidu as having Rett Syndrome.  It was bitter sweet.  I had been trying to convince the physicians for all of these years that my daughter had Rett Syndrome but then when a physician finally agreed with me, I wished more than anything that it wasn’t true.  And the grieving began all over again.  Grieving because by this time, I knew what Rett Syndrome would have in store for my precious daughter. 

At nine years old, and weighing only 36 lbs my daughter had to have a feeding tube surgically  placed in her stomach. Seeing your beautiful frail little girl hooked up to all of the machines in the hospital was so scary.  After the surgery, she could still walk but she had to be stood up as she could no longer get into a standing position.  She continued to walk until she was eleven years old and then had to start using a wheelchair. The wheelchair was needed all of the time but for transferring, Miss Ashley B. could still stand briefly. At thirteen years of age, Miss Ashley B. started having non-stop seizures and had to put on seizure medication.  She had developed kyphosis and scoliosis and her spine was becoming increasingly curved.  She also developed Long QT Syndrome, which is a dangerous irregular heartbeat that can cause sudden death. Although she does still have screaming episodes, they have certainly decreased.  And just this past year, after having yearly xrays on her spine, I was told that spinal surgery was necessary.  Rods needed to be placed in my daughter’s back to help keep her spine straight. 

We were to be in the hospital for seven to ten days.  As it turned out, Miss Ashley B.’s lungs became compromised and she was in the hospital for eight weeks on the ventilator and having to have a tracheotomy.  I almost lost her several times during those eight weeks. Since the surgery, she can no longer stand briefly during transfers and I have to use a hoyer lift for all of her transfers. She can also no longer roll over and has to be turned every few hours for comfort and to prevent pressure sores.  I almost lost her several times during those eight weeks.  But she fought hard and she is still with me.  I have never met a stronger person than her.  So frail but yet so strong.

Having a child with a disability is something that cannot be understood unless you are living it.  It involves countless school meetings, and learning to advocate and fight for services that your child needs.  It involves scheduling your life around doctor appointments and never being able to get proper sleep.  It involves worrying about who will take care of your child should something happen to you. It involves not being able to spend as much time with your other children and struggling to somehow show them that you love them just as much and that they are as important as your child with special needs.   It is financially and emotionally draining.  It involves everything taking twice as long to do.  It involves having to have a respite worker with your child just to run a quick errand.  It involves planning every aspect of your life around your child’s schedule.  And not just during their childhood, but forever.  It involves seeing your child discriminated against at times. It involves your child, after finishing school, to just sit home all day because there isn’t any type of day program in your area.   It involves seeing other children doing things that you only dream about your child doing.  It involves letting go of all of the hopes and dreams that you once had so many years ago.   It involves seeing your child suffer mentally and physically on a daily basis.

But………………….it also involves learning to love unconditionally.  It involves learning to appreciate the small things that so many people take for granted.  It involves digging deep within yourself to learn to accept what is and not what you thought should have been.  It involves rejoicing seeing a little smile on your child’s face and celebrating every milestone, regardless of the size.  It involves exploring who you are and learning who you are.  It involves finding strength when you feel so weak.  It involves being able to steal hugs from your child at any time.  It involves having a best friend for life and having someone who truly loves you and appreciates everything you do.  It involves……………………JUST BEING.

**Stop Seizures Now Blog: With special thanks to mom Lisa, who is an incredible lady, that we should all be proud of. She does not understanding the meaning of quit, rather doing. Her son is a good man of fine character, and Ashley is a young lady whom deserves our respect and compassion. Way to go Lisa!!! You have an excellent family, and have made so many more aware of this condition, and the challenges and rewards of such a diagnosis.