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.
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
Looking back, it seems so long ago that Maggie was a part of the Trofinitide clinical trial. At 5 years old, my little girl went through 10 weeks of weekly appointments in a different city, to change her life. How many people can say that? I wish she didn’t have to do it, I wish so many things were different for her, except for one. Her bravery. She is brave. Two things…She is also strong. Just like so many other girls with Rett Syndrome, she chooses to fight to change her life.
I’m not sure we have discussed this, because life is a blur these days. We talk to Maggie about everything. We explain everything to her, about Rett, about trials, about life. During the trial, there were a couple of moments, we almost quit. It was really hard on us, and really hard on her. There were times she wanted to quit, mostly during the bloodwork, but she prevailed. She would tell us she didn’t like the Doctor, but loved the nurse. She hated the guy that took her blood, but liked the other nurse. She was very specific about who she liked working with. There were times, I almost picked her up and walked out of the clinic. In the end, I’m glad that we did it. We didn’t find out if she was on the drug or on the placebo. We are fairly positive she was on the placebo, because we really didn’t see any change in her. Actually, things got worse for her during that time period. To go through a trial on a placebo (possibly) but still have to endure the hardships of the clinical trial really tested us. We just kept telling ourselves and her, someone has to go through the trials, actually we hope everyone participates. If everyone quit when they didn’t see results, we’d get nowhere. And we want Rett to be history. So we endure.
The good news is, Neuren Pharmaceutical released an announcement today. From the way we are reading the results, it looks like the drug works. What?! The next Phase of the trial is set for 2018, which feels so very far away, but with everything that she has been through lately, I’ll take the good news. It also looks like the drug helps symptoms across the board. Every step forward with Rett treatments and cures, I’ll celebrate.
For most people, its hard to understand why being a part of a clinical trial is hard. That’s fine, I hope you never have to fully understand, just take my word for it. The travel, the mental exhaustion, worry about the drug and its effects and not to mention the monetary aspect. Thanks to Rettland and their mission to help families participate in clinical trials. Also, luckily, Maggie’s uncle Sean was able to get a house for us, for most of the weekends, and we were able to stay at the same place for most of the trial, which Maggie loved. Thank you Uncle Sean and Aunt Lynn. Maybe Uncle Sean and Aunt Lynn will buy her that house, because she really really loves it there.
Looking back at the clinical trial, as hard as it was to travel and upend our lives almost every weekend for two and a half months. I’m so glad that we were able to find balance. Maybe it’s San Diego, but our down time away from the clinic, was pretty awesome.
To read Neuren’s press release regarding Trofinitide, go here.Press Release
One of the symptoms of Rett Syndrome is a difficulty breathing. Maggie hasn’t always had this problem, though recently she’s developed it. And it’s a hard one to watch. We just have to watch her struggle and gasp for air and there’s nothing we can really do about it, that we know of. It’s neurological – so her brain isn’t letting her do the things that are automatic to the rest of us. Have you ever tried to think about breathing? You end up struggling to breathe yourself. Maggie, it seems, is thinking about breathing, because it’s not coming automatically and that just makes it worse.
The only thing that we’ve found works, even if just to stop her from hyperventilating for a moment is to count slowly and deliberately. I sometimes tap her head to remind her to count as well, but that is just so I feel like I’m doing more for her. I’m not sure that fully helps.
I’m going to see if there’s an asthma inhaler that people have tried for this type of thing, though I suspect the answer is no. That may mean we’ll have to put her on an anti depressant or MAOI inhibitor, both of which have been recommended in the past. Giving those kinds of drugs to a little kid has always bothered me because there are risks of side effects both on the drug and when she inevitably comes off it. Plus, I’d been trying to wait – we feel so close to a positive development in the research, but I’m afraid we need to come up with a solution for this breathing issue before that.
I’d love to wait for a drug that addresses all of Rett instead of just the symptoms. I’d love to avoid the slippery slope that I’m afraid will lead to a cocktail of medications for her. Without her being able to tell us how the medication makes her feel, there’s no way of knowing if it’s working, or if it’s hurting her. I’m just not sure I can hold my breath any longer.
Rett Syndrome is not an individual sport. It’s a group sport. While each girl with Rett is different and Maggie’s team makeup may be different than others, without a cure, they will all require 24 hours a day support for the rest of their lives. And for that kind of support, a whole team is necessary.
When we were first diagnosed, doctors told us “If she doesn’t use it she will lose it”. If she doesn’t use her hands she will lose the ability to lose her hands. If she doesn’t walk she will lose the ability to walk. So we assembled a team that would help her fight.
In the spirit of the baseball playoffs – here’s her starting lineup. These are the people we see regularly to make sure Maggie’s health doesn’t decline. These are the people we depend on every week. When something is wrong, these are the people who help us problem solve. Only two of them had significant experience with Rett before they met us. Now, they are all experts.
Daniella – Physical Therapist – 2 hours/week
Uyen – Occupational Therapist – 2 hours/week
Deandra – Speech Therapist – 2 hours/week
Jeff – Neurologist – 2 days/year
Barbara/Melvin – Vision Therapist – 1 day/year
Susan – Communication expert – 2 days/year
David – Cardiologist – 1 day/year
Shelly – Caregiver – 3 days/week
Karen/Judith – Horse Therapist – 1 hour/week
Joanne/Heather and her Pre-K team – 5 days/week
Alyse – Swim Instructor/Behavioral Therapist – 1 day/week
Peter – Pediatrician – 1-5 times/year
Nancy – Orthotist – 2-3 times/year
Rob – Naturopath – 1 time/year
Kim, Tina, Lyn Dee and her IEP team – 2 times/year
It’s sad that any kid needs a pediatric neurologist. And sad when kids need pediatric cardiologists. Maggie needs both of those and a team of 13 more. Those are just two people on this one little girl’s team!
Look, I recognize this team is a little absurd in its magnitude. But each and every one of them is necessary. And if we stopped going to see one, we would see the negative impact quickly. In fact, there are still more interventions we’d like to do, but the time to do that simply does not exist.
So instead, we’ll cheer on the team. But we’re not cheering them on from the sidelines at all. We’re in the huddle, drawing up plays. After all, this is not an individual sport. It’s a group effort.
And now that includes each and every single one of you.
This is the email I sent to all of the team above the night that we got diagnosis, but I realize that you’re also part of her team, so I wanted to share it with you as well.
I know that we just got some brutal news about Maggie, and I wanted to write to say thank you for all the help and love you guys have shown her.
This isn’t easy. But it isn’t over. There are miracles that happen every day. We just have to be one of them. With your continued support, I believe we can be. Jenny put it best when she said “life can change in an instant. It’s what you do with that change”. And we’re going to do absolutely everything we possibly can with this change.
A couple of weeks ago, we took a little weekend trip to the desert because nothing says relaxing like 109 degree temperatures. It started out auspiciously with Maggie unable to calm her body, communicate her wants or regulate her body temperature. The last one was a new discovery. She’s always run a little hot, but so have I. So, whenever I’m warm, I know she’s miserable. We learned the hard way that heat is a real problem watching her face get flushed, her grow lethargic, unwilling to eat much, even her favorite foods, and even, on occasion, vomit. Not fun. She’s also taken to biting and hitting in frustration. Mostly me. But that doesn’t make it better. I’m constantly terrified that she’s going to bite someone else, mostly because she doesn’t just bite, she locks her jaw and you have to pry open her mouth with your hand.
But while the first day was brutal, the next two days were a blast.
We spent two straight days jockeying between swimming and air conditioning which, from what I can tell, is really all there is to do in Palm Springs.
We went with our favorite travel companions, Leslie, Eric and their 2 year old son, Ollie. They’re just doing what friends do by dragging us along on these adventures, and it’s appreciated more than we can show while we’re with them. Ollie, just learning to speak himself, is great with Maggie and wants to play with her regardless of how many times she rebuffs his efforts. And Leslie and Eric have always been quick to get down to Maggie’s level, give her a good hard squeeze to give her some sensory input, and speak a little slower than normal so Maggie can follow along. It shows that they’ve read up on Rett and are doing everything they can for her. And it’s obvious how much Maggie appreciates it. No matter how overheated she may be.
In December, our daughter, Magnolia was diagnosed with Rett Syndrome which is a rare neurological disorder. Because of Rett, scoliosis, seizures, feeding tube surgery, loss of mobility, loss of useful hand control and an inability to talk are all things she will possibly deal with over the course of her life.
It happens randomly. It can happen to anyone. We certainly never believed it would happen to us.
Be Magnolia’s Hope. Help us get to a cure. Share this video.
See, unless you’re affected by it directly, it’s unlikely you’ve ever heard of Rett Syndrome. That’s why I made this video. All I want is for people to share this. Just share it. The more people who view this video the closer we get to a cure. This video has ads on it so that every view earns money. If we get enough views, we could fund a clinical trial.
A cure is possible. It is reversible. The cure and treatments just don’t exist yet.
Her life and the lives of 10s of thousands of girls like her depends on you sharing this video.
For the longest time it has felt like we were losing the battle with hand function. Stopping any more loss of functions for Maggie has been yet another one of our primary goals, since the diagnosis. We spend most of everyday, watching what she can do, discussing what we saw that day and figuring out ways to help her keep functionality.
See, her constant arm flapping and hand wringing gets in the way of her using her hands as appropriately as she would want. We keep getting reminded that she’s cognitively intact, not just by doctors, but by her as well. We know she understands everything, just her body doesn’t always listen to her brain.
When we went to see the neurologist he had told us that eventually most things will stabilize and even start to improve if we work hard enough. While that’s been true of a lot of things, her hands haven’t quite made it there.
It seems like recently she had stopped holding things in her right hand and would drop whatever she could grab with it. She’s been wringing it incessantly for a number of months now, so maybe it just hurts. But this is a battle we really don’t want to lose. Things just get more difficult when you can’t use a hand. Other than weight bearing exercises and any fine motor activity that she will actually let us force her to do, there’s not much we can do to help, and there are only so many pushups you can make a 3 year old do. The answer is 64 if you were curious.
As Jenny mentioned in her post, I’ve been trying my hardest to invent something that could help her. Splints, velcro, weights. Anything I could think of. When we finally got a prescribed splint, I thought that was going to be the answer. But it limits her use so severely, I’ve been afraid to even use it. The whole fight has been frustrating to say the least. Right now she hits herself in the face constantly, and bracing her arm has its own limitations. It’s neurological – her brain is just stuck in this pattern and no doctors or therapists have been able to crack the code yet.
Then this weekend happened.
She has not been able to use two hands together like this since she was about a year and half old. And she was doing it consistently this weekend. It’s hard to express how awesome this is. A majority of the girls with Rett have limited, if any, functional hand use. It seemed Maggie was headed that way. And she still might be. But, at least for this weekend, she decided to head in the other direction.
Hopefully this means we’ve stabilized and will start to see some improvement now. But if not; if it’s going to continue to fall off, I’ll have this little nugget of wisdom from my dad to fall back on – “if that’s the worst of it, it’s not that bad.” For a man who can only use one of his hands and probably voted for Bob Dole, another man who could only use one hand, it’s more of his typically sage advice.
Every time I feel like we’re losing a battle, I’m reminded of George Washington, who, though, he lost more battles than he won, always lived to fight another battle. And, just like him, we’re going to win this war.