Summer has begun for everyone, at least in our hemisphere. On social media I have seen families sending their kids off to camps, going on family trips and also just swimming by the pool. It’s been a tough few months and finding camps for Maggie, has, again, been difficult. The horse therapy camp was cancelled due to lack of interest, most day camps don’t support kids like Maggie that well, and so summer options always feel limited for Maggie and frustrating for us. My mind swims with summer memories and all I want to do is create the same for our kids.
There is one activity that we discuss every year – Going to a baseball game! Every year for the past 8 years, it just hasn’t been possible. It’s a doozy for Mags. The heat, the crowds, and sensory overload.
Life changes so quickly for us. A month ago, I wasn’t getting any sleep, Magnolia wasn’t eating and our family was hustling to survive our days. I was meeting with several specialists every week. Talking to doctors and nurses on the phone, packing a hospital bag and making an ER criteria plan. We have a surgery scheduled for the G tube (feeding tube) in August, but we are still hoping we can manage Magnolia’s weight and hopefully improve her condition before then.
This last week, things changed again. She started eating more, not much more but enough to sustain her. Even better, she’s been in a relatively good mood. Since we never know how long we have, we tend to take a good day and relish in the moment. It’s summer and we need to have some fun.
I mentioned a baseball game to AJ. He is working all summer and most of our family plans together are in August. August is really too hot for a baseball game. BUT last weekend we had a small window of opportunity. AJ didn’t have to work, Mags was feeling good, there was a 4pm game and the weather was 70 degrees. WHAT?! The day before the game AJ bought tickets and we were both so excited. We couldn’t stop saying, “We’re going to a baseball game!” I think our excitement really encouraged the kids to be excited. We were all anxious with anticipation.
So we did it! We went to a Dodgers baseball game. It wasn’t easy, the game was even louder than we anticipated. Even though as adults AJ and I have been to baseball games, you don’t realize how loud it is until you have a child that doesn’t do well with lots of noise. SENSORY OVERLOAD for sure. I had packed earplugs and headphones. At first we tried earplugs, that barely helped, so we added the headphones and that seemed to help a lot. Her breathing was difficult during a lot of the game but she still had an awesome time. We made it to the 7th inning stretch and decided we were good. AJ, being the avid baseball fan that he is, was thrilled to sing with the kids, then leave.
Last year, we discussed AJ taking Gray by himself, but that made us both sad, since it was a reminder that Mags just hasn’t been able to go. I wanted this to be the year. But Mags has been so weak with so much going on, it didn’t look like it would happen.
Tears of joy as we left the stadium. Such a feeling of accomplishment. The stars aligned, we saw the opportunity and we took it.
If we get to sleep, I usually wake up positive. This has been a big shift for me over the past five years. I didn’t use to wake up positive. Honestly, I was living in a fog. The fog of grief. Now most days I wouldn’t say there is grief, just a wave of sadness, and also not everyday. Most days, I’m fine. All things considered, I think that’s pretty good. I didn’t think I’d get to this place.
The reality is, emotionally we live moment to moment. When the good outweighs the bad, we’ve had a great day. It’s when the bad moments start to outweigh the good ones, that’s when we start to wave the white flag.
I’ve been thinking about this a lot. I am tired of the tease of calm waters. The past couple of years have no doubt been hard. Waves of symptoms affecting Magnolia. If it’s not seizures, it’s breathing issues, or GI issues, or balance issues, or unexplained pain, or her body weakening and tightening, her hands have mostly stopped functioning with constant wringing, the list goes on. Rett is relentless, but then we get moments and we breathe lighter. A little bit of weight lifts off our shoulders. Then those moments turn to weeks. We are in awe, we enjoy the reprieve, we hope it stays. We celebrate medicines working. We adventure. Then it stops. We watch daily as symptoms slowly return. The waves start crashing bigger again.
I try not to compare Magnolia to others afflicted with Rett Syndrome. Sometimes its curiosity, sometimes its jealousy, sometimes it’s survival. What is that mom doing that I’m not? I’ll reach out for advice. Usually when I reach out, I find out, they are drowning too or they are in their own dingy rowing like crazy trying to stay ahead of the next crashing wave. I’ve realized, every family is in their own small boat, making sure they are wearing life jackets, because the waves of Rett are relentless. Nobody has found land, not yet anyway. Until we find land, we will keep trying to live our lives as best as we can in our dinghies. #dinghylife #rettlife
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.
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
We have been homeschooling Maggie this year, for various reasons – mostly, because she had a rough year last year. She was constantly getting sick, which in turn caused more Rett symptoms, and though she has fought so hard to gain back her strength, balance and walking ability, being at home has allowed her to focus on therapy and helped her get back to her old self. Of course, Rett is progressive, so now we have new symptoms she is dealing with on a daily basis. Her breathing, seizures, drooling, anxiety and some balance issues seem to be hindering her the most right now. So sending her to a classroom is very stressful for everyone involved.
Right now, Maggie has school at home through an online classroom. Shelly assists her during class, they really have become quite the duo. Of course, AJ stays up late every night to program her eyegaze computer with the next day’s classwork, so that Maggie can be as involved as possible.
So that is what we’ve been doing. It’s been working, we’ve been pleased by her progress. Then a few months ago, the school district called and offered Maggie to attend a satellite campus for homeschooled kids. At first we said, no. Then we realized Maggie is doing well, we should try it.
So on April 11, AJ took Maggie to school, Shelly met them there to be her aide. AJ introduced her to the classroom of kids. He explained Rett syndrome and discussed her breathing issues. A little boy in the class immediately says to AJ, I think she is having problems breathing because it;s her first day. AJ said, that might be. The way I imagine it, a single tear of joyful innocence rolled down his cheek as he said it. After a few weeks, we’re convinced Maggie loves it as she screams joyfully and skips as she pulls AJ to the classroom. Shelly is with her, so she is safe and is able to communicate. There was even a little girl who went up to Maggie and said, “Maggie, you can be my friend.” And when I heard that, my heart exploded a few times.
Turns out this is the perfect situation for Maggie right now. Two days a week she goes to a satellite campus, then to therapy. The other three days, she is homeschooled and also goes to therapy. It allows her flexibility, socialization, and the security and comforts of home. We are hopeful we can continue her education this way, for awhile. From the way it seems, she is as well.
I wrote this post last week and this week is her final week in the class for the school year, but she is unable to go. Maggie was has been hospitalized twice in the last week and will be resting at home this week. At least there is hope for next year. We know we like this program, we are hopeful that it works out for her.
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
Last year when I reflected on the amount of money we raised collectively, I was proud to have been a part of Maggie’s solution, her hope. This event, which takes place in LA on October 29th this year, is a big part of that hope for me, having raised over $700,000 for the Rett Syndrome Research Trust last year alone, and moved the science needle, almost by itself, in the right direction.
I chaired the auction, sourcing and organizing silent auction items from around the country, though I had little idea what I was doing.
Planning for this year’s event has begun and with the event less than two months away, I’ve started working on it again, emailing friends and loved ones, asking for anything that might fetch a penny at an auction. If you know someone who works at a business that may be interested in sponsoring, an artist who may be interested in donating, someone with a vacation home or a hotellier, or a somelier, anyone who may have something they’d be willing to pass along for this silent auction, please share my info with them or theirs with me. We raised over $30,000 from the auction last year, but I aim to double that.
And, if you’re in LA – or aim to be during this time – you can attend – I’d love to see you there.
At least this time, I’m going to think I know what I’m doing.
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.
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.
This trip to Houston was a little different than the last one. At the last one we were nervous and everything turned out as good as could be expected. This time we weren’t nervous and we didn’t feel like it turned out quite as well.
We didn’t get to see her GI doctor since she was stuck in other appointments and we ran out of time and Maggie ran out of patience. We met with the Phys Med doctors who thought she looked great and had no new recommendations for us. In some ways that’s quite an accomplishment. For a long time every doctor we would see would have alaundry list of things for us to do. Now, it’s surprising if they suggest something we’re not already doing.
We also met with her neurologist who is pleased with how she’s doing and while he thinks she’s maybe even a little better than she was, reminds us we are still at significant risk. He reminds us the trials are going well but he can’t really talk about them lest he spoil the research. He mentions a few other potential treatments that are coming down the line. He mentions he’s moving closer to us. All good stuff. But the idea that we’re not out of the woods yet is no fun.
I think a hard part for people to understand is the constant sense of impending tragedy. She’s doing great now – she’s running and jumping. She’s swimming like a champion. Not a champion of swimming, mind you – she doesn’t float and hasn’t quite figured out you’re not supposed to drink the water – but she’s making great strides. She’s gaining wait and muscle. She’s getting stronger. She’s even vocalizing more now. She knows her abcs and 123s. She can’t pronounce all the letters and numbers. But she knows them. It’s obvious.
But at any minute something could change. She could get pneumonia and forget how to walk while she’s laid up. She could get a seizure and forget how to hold things. That’s Rett’s dirty secret – we constantly have to be on the ready. That’s ok, Rett. I’m ready. En Garde.