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.
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!
4 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.
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.
Dear Jenny and AJ
First I want to say you’re amazing loving parents and I have to get to all the points quickly.
1. My daughter wasn’t diagnosed with Rett Syndrome until the year 2000, she was 17 by then.
2. I was told there were two kinds of Rett Syndrome; 1 where the dna was reversed in the MecP2 gene and the other where it was Mixed Up. At the time in 2000 only 5 girls had the later, my daughter was one of them.
3. How do I get the system to hear my daughters thoughts like I saw AJ speaking with Maggie 5 years ago?
4. After we were in the newspaper, after having 44 doctors, and being told she had brain tumors had her brain decaying and had 4-6 months to live over and over for years I pulled away from these who had no idea what was what and I listened to my daughter by spending 24-7 with her and trying to understand what she needed. She’s now 37 years old,
5. I watched your talk and you said many times you prayed to give your life for hers. I know now from the Bible why Crystal my daughter has this syndrome and I have a hope and promise of her being completely cured. Simply Romans 5:12 tells us we all have inherited sin and death from the sim from Adam and Eve. Our girls have Rett Syndrome, all of us have some imperfection.
6. The creator gave us life he has the ability to fix any and all sicknesses. One promise found at Isaiah 33:24 “And no resident will say I am sick, no more Coronavirus, no more cancer, no more Retr Syndrome, no more sickness of any kind”.
7. I worked along side of my daughters pediatrician and for 22 years we made many decisions and observations about this syndrome. ie: we learned that her seizures were different than seizure with people that have epilepsy or seize from a fever or other cause. They call this syndrome a brain disease yet every cat-scan shows my daughters brain to be completely normal. Rett Syndrome affects the nervous system not the brain. There’s many things I’ve discovered from my daughter- can not fit here.
8. Are you still able to communicate with Maggie via the computer tablet I saw?
I need to know if my daughter can speak to me this way. I cried so hard when I saw that video. I hope this reaches you and I hope you will respond.
9. Just some things about my daughter,
I chose to never do the spinal surgeries, and other ones, Working with the one dr after dealing with 44 specialists who knew and still know nothing in 2020 was beneficial to my daughters well being. Each stage of the syndrome was a painful transition for her but she’s happy and though bedridden and I’m sorry to say these things as I remember just being afraid of being told she was capable of having seizures. But knowledge with this syndrome is power in making decisions to help our daughters through each level and transition of this syndrome.
10. Kathy Hunter was running the Rett foundation back in 1986 and her daughters name was Stacy I don’t know where they all are now but I attended a Rett conference in 1986 in Texas my daughter was 3 and I was 21. There were about 40 girls there all ages with Rett Syndrome and it was overwhelming and frightening.
Some things I’ve learned is that the common cold virus which is a coronavirus is life threatening to my daughter, being exposed to the regular common cold virus causes her lungs to collapse within 10 hours or less and therefore through learning how to take care of her with suction machines, antibiotics, oxygen concentrators and nebulizer treatments became second nature. But I could not watch her struggle to breath and so I quarantined us decades ago to protect her from being exposed to the common cold virus. What the works is currently experiencing with the COVID-19 coronavirus is what the regular cold virus would do to my daughter.
I am going to close as I think there’s a book inside me. As I have learned so much over 37 years.
I would love to hear from you. I would love to be able to hear my daughter if possible now, but I know for % certain that she will be healed cured normal whatever way you want to say it
In the very near future because the Bible taught me over 30 years ago about the pandemic and the things happening on the earth currently.
Please if you want to please go to JW.org. And/or you can download the app JW library
My heart is with you and everyone and our girls all our children
Apologies for just now seeing this. Maggie uses a Tobii Eye gaze device to communicate. If you reach out to Tobii they can help walk you through the process of getting one. Some insurers will cover it. It’s amazing hearing all from all the people who have been on this road longer than we have been. Really appreciate you reaching out.