Diagnosis day – four years with Rett Syndrome

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Maggie was diagnosed on  12/17/2013. This day is known as D-day in the world of Rett. Diagnosis day. This will be year 4 since diagnosis. Maggie is now 7 years old. Life is different now.

Four years ago, Maggie hadn’t lost many skills. She had slowed in development but regression hadn’t fully begun, yet. The next 6 months she would lose speech, then some hand function, then parkinson’s like tremors started. As Rett has progressed, we have gotten stronger. Or more numb to the devastation, I’m not sure.

I remember when Maggie was first diagnosed with Rett, my world collapsed. In the first few days after diagnosis, I could barely get out of bed. I cried all night. I sat next to our bed every morning, I would cry more. Pulling myself together enough to pick myself up off the floor, wash my face and go get Maggie dressed for the day. The physical pain in my gut was real. There was rarely a moment that it didn’t feel as if I had been punched in the stomach. Breathing was hard, I would find myself short of breath throughout the day. I had to compartmentalize my emotional pain, in order to physically take care of my daughter.

I didn’t want her to see me cry, so I would cry while in the shower, she would fall asleep in the car and I would pull over and cry. I would be on the phone with therapists, hang up and cry. I would be filling out paperwork for the Regional Center, take a moment and tear up. I would talk to my mom or my sister and I would cry. My best friends would come over, we would cry. There was a lot of crying, because there was a lot of pain. There still is, but its different now.

As weeks went by, I wondered how any of this mattered. Driving in LA, I would look at other drivers and wonder, who else is in pain? Months went by and I truly wondered what was the meaning of life. What is the meaning of Rett syndrome? How am I supposed to watch my daughter lose everything she has? Will I ever be truly happy again?

For a year, there was a buzzing in my body. I could feel the stress and pain manifest itself through buzzing. I was trying to cope, but with Rett syndrome, not only is the diagnosis hard to hear, the progression of the disorder is frightening. Its the knowing and the not knowing at the same time. Will my daughter lose the ability to walk, talk, use her hands, eat, or breathe? Will she have scoliosis, seizures, breathing issues or any other medical problem that Rett syndrome causes? There is no knowing. Rett syndrome manifests itself in so many ways, and all of them are scary. Rett is a monster of a disorder. Maggie is now dealing with all of these symptoms. Yes, scoliosis too, that is an entirely different blog though.

My hope is to be happy again. The truth is, I don’t know when that will be. I try and there are plenty of happy moments but something inside me has changed.  I don’t think anyone will ever convince me there is a meaning for Rett syndrome. It is too cruel a disorder.  When I think back when Maggie was first diagnosed, I realize I pushed through the pain each day because my little girl needed me to. Some days were easier to get up and other days I had to make the choice to fight.

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I distinctly remember one morning, 6 months after Maggie was diagnosed. She had started to lose her hand function, her arms and hands would shake and tremor all day and she would cry all day. We had been at therapy all morning, she was napping and I was laying on the floor outside of her room. I was so emotionally and physically drained, I couldn’t even walk to my own room 8 feet away to lie down. So I laid there and I cried. After about an hour of crying. Maggie woke up. I couldn’t move. After a few minutes, out loud I started repeating to myself, “Get up”. “Get up” “Jenny, get up”. Finally, I did.

So for families that have been recently diagnosed, know that you are not alone. You may have to tell yourself to get up, but you will.

Right now, our family is dedicated to finding the happy and beautiful moments in the midst of pain and chaos. Our life is crazy, on a good day, Rett takes its toll. So we try to make the best of each day, of each outing, of each doctor visit. Its not easy, but choosing to be happy and learning to enjoy the moments will get you through those difficult days/weeks/months.

This pic is the night before Maggie started the Trofinitide clinical trial last year. Maggie and AJ were clearly on their own date, so I enjoyed my glass of wine with the beautiful view of boats and of course, them. Happy moments and hope.

 

It took me 2 months to finish this blog post. Its hard to look back at that first year and remember the pain. Ugh. Happy thoughts!

 

2 thoughts on “Diagnosis day – four years with Rett Syndrome

  • Thank you for sharing your raw and brutally honest feelings. Although I have never met you, Jenny, I know AJ—and his brothers—from the time he was in grade school and know how totally wonderful he is. You are a strong team. Maggie is blessed to have you two as her parents. Both of you have been an inspiration to others dealing with this G-d awful condition.

  • Jenny,
    I am truly sorry for all y’all have been through. Your honest words are freeing to so many and I thank you for sharing them. Praying for a cure and for strength to continue on the journey.
    Love,
    Eileen

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