This past week, Maggie needed to dress up for school as her hero or a hero. When I found out, I asked her, do you want to dress up as Elsa or Merida, we have both costumes and they are both strong female characters. Her answer was a quick “No”. Do you want to be a superhero, again “No”. Do you want to dress up as a hero in History? “Yes”. Clearly, I hadn’t understood the assignment, but she set me straight. I’ve done History assignments with her and there wasn’t anyone she was really excited about, yet. I pulled out another book. Good Night Stories for Rebel Girls. Both AJ and I have read these stories with her. Maggie loves reading stories with brave women and girls who overcome large obstacles or have to fight for what they want. Hmm. I wonder why.
We read through the Rebel Girls book and it was a tough choice, between a female dirt bike champion and a brave female pilot but in the end Maggie chose Amelia Earhart. She loved that she flew a yellow plane called “The Canary”. When she went to school dressed as her hero, everyone knew who she was, right away. The hat kinda makes the outfit. She loved it, she had to do a presentation with Shelly. Shelly said Maggie loved the spotlight. Of course she did. A star is born!
If you haven’t heard of them, I think the Rebel Girls books are pretty cool. You can check them out here.
I read a news story recently that frustrated me to no end. It reminded me how far we have to go to get to real understanding of patient rights and saddened me for this family. A girl, living with Rett Syndrome, Melody, could be taken away from her parents because of a treatment plan they are insisting on. I don’t know the specifics about them or their history, but as a dad who would do anything to fight for my own daughter’s comfort, well being and care, the very conversation around this is infuriating.
We have been in similar spots before. Maybe not as dramatic, but Rett Syndrome is rare. The number of doctors who know anything about it is limited. The number of doctors with up to date information about it is even more limited. We have taken Maggie to doctors and left, after being thanked by the doctor, for helping them learn about Rett Syndrome (thanks for the waste of time). We have been told that it’s our fault she started having seizures (what an insane thing to suggest). We have friends whose daughter was being recommended for scoliosis surgery, but at their insistence, they opted for a brace instead which appears to be helping (why wouldn’t they just listen to the parents from the beginning?). We have been met with eye rolls and resistance from school officials when we stress that she is capable of learning at an age appropriate level (she is now testing at above grade level so…?). We have been told that her balance loss was just part of Rett Syndrome, when in retrospect, it’s become clear it was undiagnosed seizures (this felt like negligent malpractice and I think about it every day). We have warned phlebotomists about the difficulties of drawing blood from Maggie, despite their snickers, only for them to bite their tongues, having to try for a third time to draw blood from poor Maggie’s arm (I hate to be an I told you so). We have asked doctors about her behavior, and gone to specialists around the country, only to be told that either we were doing all that we could, or there was nothing they could do for her yet (then why did you take the appointment and waste our time?). We have met with orthotists and explained in great detail exactly the kind of bracing we need and been told that they don’t do custom work, or been given something entirely different. The point is, we, as her parents, are the experts in Maggie’s care, and most doctors don’t have enough familiarity with Rett Syndrome to actually know what might help.
Perhaps even more surprising is the lack of familiarity with non verbal patients. Trying to diagnose an issue when the patient can’t tell you where they hurt, or how they are feeling, is very difficult. But trying to understand a non verbal patient with whom you have no familiarity must be impossible. We know the look. Someone will ask Maggie a question and then look to us for her answer. But we don’t go to the doctor to give answers, we go to get them.
If a doctor doesn’t have answers, and has spent the patient’s entire care looking to the parents for insight, it’s unreasonable to insist on a particular treatment plan if the parents don’t agree. Doctors and healthcare professionals and the health care system need to understand, this needs to be a joint effort. We have fought for Maggie’s care at every step of the way. If a doctor gives an answer that is clearly misinformed, or a treatment we already know will be ineffective, we don’t accept their word. We accept that we have to find a new doctor. Keep in mind there is outdated information about Rett Syndrome saying that it is degenerative (it’s not), most secondary issues are caused by Rett and therefore untreatable as well(they’re not), and hopeless (it’s most definitely not) .
When I go to a new doctor’s office now, I have to prep myself for a lengthy discussion about Rett Syndrome in a way that doesn’t frustrate Maggie who hates when we talk about her in front of her. I’d like the norm to be, to walk into a doctor’s office and have them more familiar with Rett Syndrome than what is on the wikipedia page. The amount of times a medical professional has tried to calm my nerves by suggesting he “wasn’t that familiar with it, but read up on Rett Syndrome when he heard we were coming in,” is in double digits. You can imagine how thankful we actually are for the handful of doctors across the country that do know Rett and are willing to problem solve with you. So when I read a story like Melody’s, I get it. I get the frustration of dealing with medical professionals who just don’t know enough. I get the anxiety of knowing what your kid needs and having to fight tooth and nail to get it. I don’t get a social worker claiming that parents are unfit because of medical care they are requesting for their daughter, but it scares me. Because some day I’ll yell at a doctor too loudly, in my own abject frustration. Some day, I will be guilty of pounding on a medical instrument too forcefully to prove a point. Some day, I’ll do something on Maggie’s behalf that will be taken the wrong way and I’ll have to answer these same questions – about whether I’m doing her harm. And that won’t diffuse my anger.
We’ve been Maggie’s voice for 7 years and will be for quite some time more. A doctor has been to school for longer than I have, but he hasn’t studied Rett Syndrome for longer than I have. He or she may have learned about it, but it’s been our focus for 4 years now – every day, 24 hours a day. There will be very few medical professionals who know more about Rett Syndrome, there will be none who care more about Maggie’s well being.
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!