Last week I was speaking with a mom with an older daughter with Rett Syndrome. She was watching Magnolia, turned to me and said.”I hope they find a cure or treatment for her. I’d really hate to see that spark go away.” It wasn’t cruel, it was honest. She has been fundraising and hoping for a long time. She believes the time for her daughter could be gone. She actually told me that, but she hasn’t stopped fundraising. In that moment I was so sad, then mad. Sad that she had been through so much and was still fundraising. Sad that most parents with younger girls probably don’t stop and think about the parents of older girls. The parents that have gotten us to this point. Mad because honestly sometimes life just isn’t fair. And in this instance it truly wasn’t.
Her words were powerful, they weren’t meant to stir such emotions from me. She was genuinely hopeful for my daughter, but not as much for hers anymore. (Don’t judge her for her feelings, they are hers to have, and I understand) To tell you the truth, in that moment I felt a mother’s love transcend that of her child and onto mine. All of the hopes and dreams she had for hers, she was hoping for mine. I teared up, I started crying. I tried to hold my composure, but it was impossible. We chatted about her daughter and what she had been through. We chatted about Mags and what she had overcome the past couple of years. We chatted about a lot. In the end, I thanked her for never giving up. I cried in the car as I drove away. I told myself, for her daughter, I won’t give up either. Rett really does suck, but there are some amazing people that I meet.
Her story isn’t the only one. If you do anything today, stop and think about those parents that never gave up, continued to push through and fundraise, push the boundaries. They are Magnolia’s heroes, they are her angels, they are her hope.
I’ve learned a lot of things the past few years dealing with Rett Syndrome. First, every time I write Rett, it gets auto corrected to Rest, which is hilarious. I wish she had Rest Syndrome A syndrome where everyone is well rested, sounds amazing.
Secondly, Magnolia’s perseverance is unwavering. Every once in a while, I’ll sit back and think. We got this. And we do, but then we get thrown a curve ball. Seizures were a big curve ball. This past year of seizures has been infuriating. I hate to say this, but seizures take Rett to a whole new level.
The first few months with seizures, I believe I already talked about. They were very scary, our lives were spiraling out of control, emergency rooms, ambulance rides, scary phone calls, life or death became the norm. Then we got the seizures under control. Then the problem was, her medicine. Maggie was on a seizure med called Keppra. It helped her seizures and gave us all some relief, but then the side effects took, well effect. She became extremely irritated, emotional and dare I say, rage. We had frequent moments, where I would have to pin her down, while she clenched my back or neck and dug in with her fingers, she would bite my shoulder and scream. Googling Keppra side effects, keppra rage was a recurring theme. Maggie had it, and we wanted it to stop. The doctor agreed, but we couldn’t stop her meds, her seizures were uncontrollable with out it. So we had to put her on a different medication, while slowly weaning her off of Keppra. It took three months to safely wean her off of this medication and get it out of her system. When the drug was completely out of her system, we could tell a big difference. We went from rage back to our vibrant Magnolia. It seemed, we finally had her back, well Maggie with seizures.
We spent the next couple of months getting the dose right on her new medication Topimax. Topimax was finally working, but I noticed some different side effects. Some hair thinning and exhaustion. Since these side effects were better than rage, we’ve stuck with it. We started giving her some Biotin and that helped with her hair. Its a constant balance with her exhaustion though. She naps, we diffuse oils to wake her, give her snacks, anything to keep her awake enough to do school and therapies. We’ve learned to manage.
A few months ago, Maggie’s seizures increased. Her doctor increased her medicine, not much, but enough to stop the seizures. Then we noticed, she was having a harder time using her eye gaze computer. She was using it less frequently. Where, she used to interject a comment or two into conversations that were happening around her. She now barely tells us what she needs unless we insist upon it. Before the medication she was starting to build sentences, structuring two to three words together. All of a sudden, it was gone.
The hardest part sometimes is noticing something new happening with her, it is usually gradual. So when we realize it, we realize how much she has been struggling. Of course, in the past, there were days she used her computer a bunch, then other days, not as much. This is different. Its watching her language disappear, again. Its frustrating, for her and for us.
She is learning to read and write, but we have to force her, its taking longer and by the end of most days, I’m at a loss for her. I tell myself, as long as she is happy, we will keep moving forward, pushing her to communicate, to do whatever she can. I’ve been positive this has been going on since the increase of her seizure medication.
Well, the past two weeks we have seen an increase with her seizures, but not just that, her GI issues are all over the place and her breathing is worse. At first, I thought it was because we had traveled to Florida, travel tends to cause seizures because of exhaustion and dehydration. I spoke to her doctor and she agreed.But here we are two weeks later and her seizures have increased. So now we wait, I have a team of three doctors trying to figure out what we should do. Shelly and I brainstormed today anything we could think of that could be causing the increase of issues.
Then I spoke with her Epilepsy Neuro at CHLA. We discussed everything that has been happening. I mentioned that Maggie wasn’t using her computer as much. Right away, her doctor says, “That isn’t what we want happening. We will lower her dose.” I was floored, Maggie’s seizures have been increasing but we are lowering her dose. So I did it. I had to trust that if something bad happens, I can take care of it, Shelly can take care of it. Maggie will be okay, we will make it to the hospital if we need to.
The first day I lowered her dose, we were on high alert for more seizures. None happened. Know what happened though? She used her computer all day. She was more alert and happy. Its been a week and she hasn’t had a seizure, she has been doing more. grabbing for things, pushing herself to do more, on her own volition. Life is strange sometimes. Life with Rett is an emotional rollercoaster. A lot of times, things don’t go our way. This past week did. I had prepared myself that I may have to save her life if she has a big seizure, since she is on less medication. Not because I’m neurotic but because its just our reality. Instead, we had a good week.
She is so smart, funny and cute, like any other 7 year old. This past week, she has told me on several different occasions she wants a dog. Then she spelled the word “ocean” with a “C”not a “Sh”. She misses her dad, she wants to go surfing and she is over Frozen. She has a lot to say. Hopefully she continues to be able to say it. I need Rest Syndrome.
Not kidding. This is Magnolia at Speech Therapy the day I lowered her seizure medication dose. She was so happy, using her computer. 🙂
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!
We are so excited about it. Rett Syndrome is starting to get the awareness that it deserves. This campaign has been a long time coming and is the result of four Rett families putting in their blood, sweat and tears to make it happen. Mostly tears. I am so thankful for Stephanie Bohn, Matt Baker, Nanea Miyata and AJ for making this happen.
On October 13th, the Rett Syndrome Research Trust’s largest annual fundraiser will take place in Los Angeles. Jenny and I are co-chairing this year in addition to chairing the auction. We have set a goal of raising $1MM at this event this year because the urgency is real. Maggie is getting older, and Rett Syndrome continues to progress. Meanwhile, a cure is not just possible, but probable at this point. With proper funding that cure can come sooner rather than later and Maggie can enjoy being a kid, free of the struggles of Rett Syndrome.
Everyone is welcome to attend this event. If you can’t attend, donations are always welcome and every dollar really does matter. If you can’t do that, but would like to donate something to the auction – we would welcome any support you can give.
This event and others like it around the country have allowed RSRT to fund things like this:
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Even if you don’t fully understand the science, it’s hard not to understand the promise treatments like this hold.
Thank you for being a part of this. We are going to cure this together.
My birthday was a couple of weeks ago. My sister and her family came to visit – it was her birthday too. They wanted to go to California Adventure and Disneyland. This is not something we have cared to do with Magnolia, again.
The last time we went to Disney, was the day after Magnolia’s diagnosis. December 18,2013. It was a nightmare. Crowds, sensory overload, heat and waiting in long lines are all things that Magnolia doesn’t handle well. Even with Disney’s Disability pass, which helps ease some of the wait, it wasn’t an ideal situation. We were hoping Disney would cheer us up, but she ended up having such a bad time, we hadn’t been back. Until now.
After standing in a long line to buy tickets to get in, then standing in a long line to get in the gate, we headed over to stand in a short line at guest services to get the Disability pass. I was already uneasy, but I put on a brave face for Maggie. She, on the other hand, was so excited – her smile ear to ear.
We met up with Lynn, Sean, Lindsey and Sadie – they had been at the park for a few hours already, so they were ready to take it slower with us for awhile. We rode the Little Mermaid ride, then the swings, the parachutes and a few other rides. We rode on Maggie’s new favorite (and mine), the Cars ride. We even went and saw the Live show Frozen. Any of those kinds of shows have been hard to hold her attention – but she sat for an hour watching and bopping along to what essentially amounted to the Frozen soundtrack. Magnolia did great, there were a few meltdowns, and one small seizure, but it was hot and busy, so it was all to be expected. Even the seizure is something we’ve become so adept at handling that little ones barely phase me. But, still it was a lot and we decided at 4:30, we were done. It was a great day. I couldn’t believe how well she did.
The next day was Disneyland. Disneyland was so crowded, a cast member ended up telling me, it was one of the busiest days of the year. Perfect.
Maybe two days in a row at theme parks was too much for her – that first day went so well, we just assumed she’d be great. But she was overwhelmed, tired and hot. She melted down waiting to meet Tigger. So we ducked into an air conditioned store where she rejuvenated a little. We rode Splash Mountain, which she loved. She also loved the Jungle cruise ride. In between all the rides, though, it was hard for her, and ultimately, she had to leave earlier than she would have wanted on the second day. To minimize the sensory overload, we have her wear earplugs, and that really helps.
I’ll take this trip to Disneyland as a win. She wasn’t miserable and I think she’d like to go back. Maybe next time, we head to Disneyland first and not go to two parks in two days. Live and learn.
It was great to be with family, people that love Maggie and want her to have a great time. I think she will probably just remember this trip to Disneyland as fun. We probably could have ridden Splash Mountain the entire time and she’d have loved it.
California Adventure swings that go in a circle? She loved it.
California Adventure, walking with the cousins. She loved it.
Disneyland Splash Mountain. She loved it!
Disneyland Jungle cruise. loved it.
The News We’ve Been Waiting for: “Gene Therapy Program for Rett Syndrome will be advanced by biotech company.” Last week RSRT sent out an email announcing they will be going to a Gene therapy trial for Rett. Reading those words took my breath away. I froze for a moment. My hands were shaking. Since Maggie was diagnosed, I had hoped I would read those words one day.
Rett Syndrome will be going to gene therapy trials. Its not if, its when. That is huge. As always, thank you for being our support. We are not there yet, and we will need more help. But we will get there, with a little bit of pixie dust.
Monica at RSRT wrote a blog, that is honest, hopeful and informative. She discusses what a gene therapy trial would possibly mean for us. Read that blog here…
There is so much hope. Take the time to read the initial press release here. It is worth it.
Pixie dust goes here
Today we are 10 days free of seizures (that we know of). After the last hospital visit and 48 hour video EEG, the doctor said they were happy with her meds. AJ and I were both happy, confused, and nervous. She didn’t have any seizures while we did the EEG, but we had still seen quite a few since she had started the meds. What the doctors were able to conclude is, her breathing issues don’t seem to be related to seizures (that we can tell). Which is interesting, because it really seemed to correlate. Her breathing issues have gotten worse and her seizures have gotten worse all in the span of a couple of months. It is very confusing to meet with epilepsy specialists and they seemingly are more concerned about her breathing than her seizures.
Right now, Maggie’s breathing issues happen continually all day long. She is either hyperventilating or breath holding until her lips turn blue and she collapses, momentarily passing out. When we had her first EEG at CHLA a month ago, it was registering as seizures, every 3-4 minutes. I took a picture when I saw the report on the computer, then panicked and asked a doctor if Maggie was actually having seizures every 3-4 minutes. It wasn’t seizures though, it was her breathing. She did have several seizures during the 24 hour EEG, but not as many as it seemed to me from what I was seeing on the screen. What happened is, the computer program was registering heightened abnormal activity as possible seizures. When the neurologist explained, I was obviously relieved. So when we returned for the 48 hour video EEG, the team decided to monitor her breathing as well. They informed me they had never done this before. Usually it’s separate, but they really wanted to see if they could figure out if there was a trigger, anything really. I didn’t think anything of it, just happy that they were really trying to help her, and doing something they don’t normally do.
I think I asked several people, EEG techs, nurses, a couple of doctors, if we really were the first family. Everyone said, they had never monitored both at the same time. They were all very interested to see the results.
Maggie was less than thrilled to have her head wrapped and also have tubes in her nose. There were some tough moments, when she would yank and pull and try to get everything off of her head. We learned, icepacks, to soothe the head wrap itching, a freezing cold room would keep her head from getting too warm, fun movies, singing songs and an occasional wrestling pin move to hold her down. This time around, it really helped that both AJ and Shelly were able to rotate in and be with Maggie a bit. And since we knew we were headed into the hospital, my mom was able to fly out and be with Grayden the entire time.
So that is where we are. 10 days seizure free. Still having breathing issues, but we have some leads/ideas of what to do next. We are exhausted but we are finally coming out of this 2 months of absolute craziness. Right now, we are taking everything day by day, moment by moment. That is all we can do. BTW – love you guys and all your support.
You can see all of the wires that were attached to her for tests. I can understand why she was frustrated, but at the same time when AJ and/or Shelly was around, she is all smiles. Mommy is definitely the boring one. And I think Grammy and Gray had a good time together too.