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.
We are on our way to CHLA today for a 48 hour video EEG. Yep, that is where we are. We are now dealing with seizures. This has been happening for the past couple of months. We haven’t really discussed it, because we’ve been trying to get a handle on it.
About 2 months ago, we started seeing possible seizures. Once a week for a couple a weeks. Then it was twice a week for a couple of weeks. Then it was daily for a week or so. Then it was one or two seizures a day for a couple of days, then all of a sudden, five seizures, then twelve, then the Emergency Room. Everything was happening so fast, that it was hard to wrap our heads around, what to do, where to go, who to talk to.
The first day that I realized this is where we are headed, I wasn’t even with Maggie, neither was AJ. It was Shelly. As you know, Shelly is Maggie’s aide and at this point, the one person in the world I fully trust with Maggie’s life. Other than AJ or myself, obviously. Shelly had taken Maggie to her speech therapy appointment and I get a text. Maggie had a seizure, bigger than we had been seeing. We are okay, now. So I call Shelly, she tells me the seizure lasted for two minutes, Maggie’s body was limp and she turned blue and unresponsive. We discuss if they should just come home or stay at therapy. We decided she should stay, she was happy and with two people Shelly and Deandra, that truly love her and wouldn’t put her at risk. I trust Shelly’s opinion, that she is fine to stay. I get off the phone. I cry.
We knew it was happening, but so far, the seizures had been small, drop seizures. This was bigger, I had to talk to someone. I called a fellow Rett mom, Stephanie Bohn, and in that moment she helped me get my head together. I was in a fog. What we realized is, I needed a local neurologist, pronto. I thought the neurologists we were seeing would be enough, but to my dismay they weren’t. Seizures are a whole other ball game of issues. Maggie’s neurologist in San Diego, prescribed her some meds, but getting meds just didn’t seem right. We need to physically see someone in LA, right? I need a plan, a seizure action plan. I don’t know what I’m doing, or what to look for, or really what to do, when it comes to seizures. Maybe I was being naive. I knew seizures were a possibility, but I was truly hoping to bypass them.
I spent the next two weeks, speaking to the CHLA Rett Clinic neurologist, Dr. Partikian, he was extremely helpful, he referred me to an epilepsy specialist. I spent all of my extra time trying to get Maggie into the right doctors. At the same time, these were the same two weeks, that the daily seizures started, then multiple seizures then a cluster of seizures in one day. We didn’t have time to wait to get into see a doctor anymore, we had to take her to the Emergency Room. What a shock that was. Everything was happening so fast.
It was a Sunday. We had just been through the longest two weeks of daily seizures, AJ working 16-18 hour days, and me trying to figure out where to take Maggie. One of my closest friends, asked me to go hike. AJ said I should, although Maggie had two seizures that morning. I needed a break. I went hiking with Stephanie Siemiller and I cried. I vented about the seizures and how exhausted I was. I was glad to have the break. We finished our hike, I called AJ on my way home and he tells me, Maggie has had two more seizures, she is lethargic and throwing up. I think she needs to go to the ER. I head home, we decide she should definitely go to the Emergency Room. I call Steph, she comes over to watch Grayden. I shower and head to the hospital to meet AJ. Maggie ends up having 12 seizures that day. I end up staying in the hospital with her for the next couple of days, she has a 24 hour EEG and they monitor her.
Life is tough for us right now. In the midst of all this chaos, I am grateful for my friends and family that really stepped up, to make sure we knew we weren’t alone. Texts, calls, emails, offering to bring me food at the hospital, taking care of Grayden and not to mention a 9 month, super pregnant lady dropping off a surprise bags of clean clothes to wear for Maggie and I. Thank you, everyone.
Needless to say, we now have Maggie on seizure meds. It has been three weeks since our 24 hour EEG. We were told to give the meds two weeks and we should know how Maggie is doing. After the two weeks, I spoke with the doctor. We aren’t having multiple drop seizures anymore, but we have had 4 bigger seizures and Maggie’s breathing is so bad, she is gasping for air, all day long. So here we are. Headed back into the hospital for a longer 48 hour EEG. The team of neurologists want to monitor herbrain, her heart and her breathing. They are hoping to figure something out. I’m hopeful, but also a realist. This is Rett Syndrome and it can be unforgiving. There is no doubt this past year, and especially these past few weeks have really tried us. If you were to ask me “How are you?” If I were to answer honestly, “I feel broken.”
I will keep fighting for my daughter. I will keep fighting for a cure. But…right now, we are just trying to make it through most days and its exhausting.
I hate Rett Syndrome. It really is a monster.
We leave for NYC next week and couldn’t be more excited. Well, we could be a little more excited. Maggie came down with a cold and we are walking on pins and needles waiting to see what happens. But fortunately, she’s already getting better and we know she does not want to miss her cousin Leo’s Bar Mitzvah. She keeps navigating to his picture on her eye gaze device. We keep telling her, “we get to see him soon.” She is going to hold us to those words.
As part of his Bar Mitzvah, Leo decided to perform a good deed, called a mitzvah in Jewish tradition. For Leo’s mitzvah he came up with The 20/20 challenge for Rett Syndrome and for Maggie. Leo has become such a smart and empathetic young gentlemen. With cousins like Leo, we know that Maggie will always be supported and loved and that makes us happy. We had no idea he was doing this, which made it so much sweeter. The challenge is to walk up 20 stairs or donate $20. It’s such a great concept, especially for those that live in a big city. We loved seeing all of the videos of the challenge and even tried to accomplish the challenge in our house with our one flight of stairs.
Well, technically, Grayden accomplished the challenge. And part of the challenge is to ask other people to participate as well. So, since Gray can’t challenge people by himself, if you’ve read this far, consider yourself challenged to participate: 20 stairs. Or $20 dollars.
Everywhere I look, I see people saying 2016 was the worst year. I get it. There is no doubt 2016 was extremely difficult for us. You guys have watched Maggie push through so many obstacles that Rett has thrown at her. The past few years, we celebrated her accomplishments more than not.
Then 2016 happened. It was a very hard year for her, and you watched as she lost so many skills, walking, balance, hand function and breathing normally. She is still fighting to get those skills back. She is walking better, but needs more assistance than before. Her balance is getting better, but she falls more often, so needs more assistance. She lost all of her hand function except being able to grasp a fork momentarily with her left hand. Her breathing has its good days and bad. On a good day, she hyperventilates and breath holds fairly often. On a bad day, it’s nonstop and painful to watch and scary for her. She is mentally stronger than I could have ever imagined. This little girl will not give up without a fight, I’m talking hanging on to a cliff by a fingernail and pulling yourself up, kind of fight.
2016 wasn’t the worst year of our lives. So much greatness happened as well. Grayden came into our lives and we couldn’t have needed him more. Maggie loves her brother. Grayden loves his sister. We love them both. Our family is complete. This strong, funny and curious little boy will learn so much from his sister.
THAT’S NOT ALL…
The science for Rett Syndrome is moving fast. Maggie participated in a clinical trial this year for Trofenitide. It wasn’t easy but she showed us it was worth it. We had to drive to San Diego 3 hours away 8 times in 10 weeks, I think. I don’t remember anymore. We made each trip a family vacation and made the most of it. Maggie played on the beach, swam, hiked with family, and surfed. She really loved surfing. Grayden learned to roll over, sit up, and crawl at the same time.
THAT’S STILL NOT ALL…
Hello, Mark Zuckerberg! AJ’s and Maggie’s videos reached some pretty influential people this year. So Magnolia’s Hope really brought the awareness this year. Very excited about that. AJ works on fundraising year round for various events but his biggest event is the Reverse Rett LA Gala. He won’t stop until we raise enough money to cure Maggie and all of the other girl’s with Rett. I’m right behind him, actually next to him. We are Partners in Crime. I spoke at the event, thought I bombed, turns out everyone was crying.
We truly are thankful for everyone that follows our blog. Watches our videos. Shares our story. Donates money. From the bottom of our hearts thank you and please hang in there with us. We will cure Rett Syndrome, but we aren’t there yet. We look forward to sharing our story with you in 2017, and we are hoping for more highs than lows this year.
We always say Maggie is the reason we will win this fight. But truly it’s our Magnolia’s Hope village. Thanks for your support, tears and willingness to donate. Love to you all. (written by Jenny)
Happy New Year!
AJ, Jenny. Magnolia and Grayden
PS. You might see more blogs and videos from me this year. AJ’s work schedule just got busier.
In Los Angeles, everything shuts down for the final two weeks of the year, as everyone escapes back to their family or goes on vacation. We’re fortunate to be able to do both most years. We typically spend Christmas in Texas with Jenny’s family and then go do a vacation with my family some place beachy. Though the last two years have been different.
Last year we planned on going to Aruba to meet up with my family after Texas, just the two of us, leaving Maggie to play with her cousins and grandparents in Texas. But, you may recall that Maggie got sick and we forgot our passports anyhow. The year before, we had just gotten diagnosed and we were going to see specialists in Texas anyhow, so we stayed in Texas for an extended stay.
This year we were determined to make it to see my family. It was my dad’s 70th birthday and my mom had booked a Disney Cruise for all of us to enjoy. Considering the importance of the event we were prepared to do everything we could to make sure we made it. We basically wrapped Maggie in a bubble for a month and ushered her away from anyone with a runny nose who so much as looked at her. When school called to let us know that 11 kids were out sick, Jenny put aside all the other things she had to do and kept Maggie out of school until we got an all clear sign. Unfortunately, that didn’t come and for two weeks, Jenny and Maggie had to entertain themselves outside of school.
This wasn’t just overprotective parents, nor was it solely for the sake of the vacation. Maggie gets sick. A lot. And it lasts forever. Even a simple cold devolves into bronchial infections in a matter of days which lingers for a few weeks before tapering off ever so slowly. When 11 kids are out, it’s no joke of a sickness and one we weren’t willing to risk Maggie’s well being for. It makes us wonder how we’ll handle general education when she gets to kindergarten. She’s been out of school for about 6 weeks already this year due to illness and that’s with us being hyper vigilant and a classroom of 8, a school population of only about 24. Unfortunately, I don’t think IEPs provide for bubbles, so we’ll just hope her immune system can build up some fight, though I’m afraid it’s already a little busy fighting off Rett Syndrome.
Despite all of our efforts, she woke up on the day we were set to fly with a little bit of congestion. It wasn’t bad, though, so we decided to fly anyhow. Considering the last trip we took, where it was very difficult for her to control her body, we were prescribed an anti-anxiety medication that would help calm her and possibly even knock her out. Basically kids Xanax. In fact, exactly kids Xanax. We doubted the congestion would bother her either way, but if she slept through the flight, which she usually does, it wouldn’t have been a problem at all. When we got to the airport on this day, though, she was a wreck – crying inconsolably, unwilling to walk, unhappy to be carried. It was no treat. We were granted access to a private room in the United Airlines club by an empathetic employee of United ( I know – I didn’t think they existed either). In this private dark room with no sound but her parents singing her favorite songs, her favorite snacks and no other sensory input she should have calmed down. It’s helped ease her sensory issues every single time in the past. But not this time. She couldn’t calm down and was screaming and crying the entire time.
We thought, this was exactly the type of situation we got the prescription for and we proceeded to administer the drugs to her. She calmed soon after and though she didn’t sleep at all on the flight – we were relieved that at least she didn’t scream and cry the whole way. When we got off the plane, she was still unwilling to walk, and seemed uncomfortable standing, so Jenny carried her all the way to her parent’s house. Well, their car, but you get my point. Outside of the car is exactly where Maggie decided she couldn’t keep in all the blueberries she ate on the plane and she proceeded to throw up down Jenny’s shirt. We all laughed about it, cause really what else are you going to do.
When we got there, I carried her in and set her down. She took one step and fell. I carried her to her room and consoled her until she stopped crying. I let her down off the bed and she, again, took 1 step and fell, this time crashing her face into the wall. While no one said it, we all thought that Rett Syndrome had suddenly taken her ability to walk, but Jenny took to the internet and learned that side effects of this medication is a loss of muscle use and balance. A scary endeavor, and the next morning she was better, though it took her a few minutes bit to be comfortable walking and a few days for us to stop feeling terrible about giving her drugs that caused her such discomfort.
I’m not trying to make out the travel out as a terrible endeavor. It wasn’t great, but we’ve certainly had harder times traveling (see this blog post from before we had ever heard of Rett Syndrome: http://walkingtimemom.com/?p=944 and http://walkingtimemom.com/?p=953). And none of these small hiccups will keep us from traveling. They’re small inconveniences, and the reward of seeing new places, experiencing new things, and spending time with family is too great.
The rest of the Texas leg of the trip was fairly uneventful from a health perspective, though it was filled with fun events with her cousins and family. She had been asking about her cousins and her aunt and uncle and grammy and pops for so long on her Tobii, it was fun finally getting to see them. They’re all so good with her, trying to communicate with her on her computer, and doing what they can to include her. Like this one time we got eaten by a shark.
Grammy and Pops pulled the lion share of the work, volunteering to watch her and put her to bed almost every night we were there, so we could get some quality time with our nieces, and Aunt Lynn and Uncle Sean.
Christmas Eve Maggie partied so hard she crashed on the couch. In moments like these, Jenny and I steal amazed glances at each other. It’s nice when Maggie can do adorable things that typical kids can do without problem – like falling asleep in the middle of a party. Plus we were leaving for the next leg of the trip on Christmas Day, so it was nice for her to fall asleep at a regular time and nicer that we were able to stay late and spend some extra time with the family. On top of all that, she was going to need that sleep for the journey we were about to go on.
I’ll write about our time on the cruise for our next post. Hope everyone had a good holiday and got to celebrate with friends and family alike. Or not, if you didn’t want to.
13.1 Miles. I have never aspired to be a runner. Two years ago, I downloaded the couch to 5K app on my phone. I thought, well it’d be nice if I could run a 5K, that’s 3.1 miles. Who knew that two years later, I’d be running my 3rd half marathon, 13.1 miles. It’s not easy, but it is worth it. I kept telling myself, during my training. This is the last one, and possibly it is. I just don’t know. I think I’m more interested in running a 10K, I can run that easily, and not kill myself during training. There is just something about those 8, 9, 10 mile training runs, that beat my body down. It took me longer than usual to recover, and my right knee was really hurting. If you saw me, there were times I was icing my knee while driving, icing my knee at a movie or our comedy show, and icing my knee most evenings while drinking wine and watching The Walking Dead. But, that being said, I finished this half marathon and thought I could do that again.
There really is an exhilaration that comes from running and completing a tough run. For me, it is very emotional. I cry while running during training and during the race. There are times, my body feels heavy, aches or is exhausted but what really keeps me going is thinking of Maggie. I can’t tell you how many times, I would want to stop running before I should, but I would say out loud while running “Keep running, don’t stop, Maggie doesn’t get to quit.” I’m sure anybody that I pass thinks I’m crazy but it really helps me focus. Because Maggie doesn’t get to quit Rett, we don’t get to stop fighting for her, its not okay to cruise to the end. We have to finish strong.
This race was extremely special for me. This was my second time running the Disney Avengers half marathon for Girl Power 2 cure. The second time running with my niece Kaylen and the first time with my brother in law Sean, by the way…he jammed my finger playing tetherball on the playground when I was in 3rd and he was in 5th grade, so he owes me a half marathon or two.
We were Team Magnolia. It is amazing having my family run with me. I was feeling down about raising money for this race, because our friends and family have been donating to various events this past year and I felt like it was too much for me to ask them again. Then Sean emailed his friends and they started donating. We raised almost $8K and I can’t thank Sean, Kaylen and all your friends enough.
Running the race, was such a great experience. I wasn’t in a lot of pain, I kept the same pace throughout the race and I had a good time doing it. I ran the first 7 miles or so with Kristin Hileman who works with Girl Power 2 Cure.
I hadn’t really hung out with her, so this was like having brunch with a friend, but we’re running and eating weird race gels and beans. I enjoyed our time together. Its hard to explain how easy it is to hang out with other Rett parents that I barely know. But I do feel a strong bond with other Rett parents – that unspoken connection that just says ” I know what you’re going through”. We are all dealing with this horrible disease, fighting for a cure and trying to have a life along the way. It’s just nice.
I really am happy that I ran the half marathon. I’m so proud of Sean and Kaylen for doing it with me. But honestly, I’m in awe of my niece Kaylen and the amazing woman she is turning into. When Sean and I really couldn’t put into words how we were feeling after the race, Kaylen does it eloquently. Maggie has a great role model in her cousin. Of course, Maggie is a great role model for everyone, how not to give up and finish strong.
Also, thanks to my mom and AJ for making us our #magnoliashope superhero capes. Team Magnolia really is awesome.
Last week Jenny wrote about her birthday and the mixed emotions that come with it. This week, I wanted to share a little more detail about that.
5 is an important year for a lot of reasons. In my family there are no more important birthday than the ages ending in zero and five. So, just from the familial traditional sense, 5, being her first of the “important” birthdays is a major milestone.
But with special needs and Rett Syndrome, it is much more than that.
The state funded early intervention therapy programs look at 5 year olds very differently than the under 5 set. The therapies, in the eyes of the state, are less likely to have dramatic impact after the age of 5. They claim that the brain is at its most elastic until the age of 5, and while this may be true, it doesn’t give the whole picture. That theory implies that they won’t be able to help her (as much) after her 5th birthday, that suddenly, her ability to learn new skills lessens. What I do know for sure, though, is that if we don’t do therapies she will lose skills. If we don’t do them, she won’t be able to progress. She will lose strength, focus and motivation. People base their self-worth on abilities and accomplishments – by limiting one, we’re limiting the other and lessening her self-worth in the meanwhile.
I know that if we do nothing, when there is a cure, she will be worse off. I know that when they can fix her biology, if she had never done any therapy, the road to recovery will be extraordinarily hard. When I think about recovery, post cure, I think of someone who has been laid up in bed to the point that their muscles almost atrophy – through therapy they will be able to regain strength, but the longer they don’t use the muscles, the harder that therapy becomes. Yes, therapy makes her life harder now (and ours – driving every which way, every single day), but it will make her life easier in the time to come.
Being five also means she is school aged. While we decided to keep her in pre-school for an extra year to help her develop some life skills – we regularly worry what school will look like for her next year. Do we go for an inclusion program where she will be underserved from a therapeutic viewpoint, but well served from a social standpoint? Do we put her in a special needs program where she will get all of the support she needs, but will not have typical kids to model appropriate behavior for her? Do we put her in a special classroom in a typical school so she gets some services she needs and sees some typical kids sometimes? Or do we home school where we can make sure she gets everything she needs? Lots of questions we have to figure out before she turns 6.
The other thing about turning 5 with Rett Syndrome is that seizure activity increases from ages 5-12, or so we’ve been told. There are certainly exceptions to the rule – some have seizures very early, while a small percent never have them at all. But, if Maggie is going to have seizures, we are now at increased risk. When we get to 12 we will be at increased risk of scoliosis, such severe muscle tightness (dystonia) that surgery may be required to relieve the pain, and a continued fear of sudden cardiac arrest as a result of heart problems or extreme breathing problems.
Maybe 12 won’t bother me so much. At least it doesn’t end in a zero or a five.
When I look at her
I don’t see her arms flapping.
I see a little girl trying to fly.
When I look at her
I don’t see a girl struggling to breathe
I see a girl who takes my breath away
When I look at her
I don’t see a girl who walks with a hitch
I see a girl who walks with a skip.
When I look at her
I don’t see a severe disability.
I see a little girl.
Rett is a progressive disorder – it will get worse and worse until there is a cure. In other words, we are never out of the woods. Every girl’s Rett syndrome is different. These were Maggie’s Rett symptoms last year.
Maggie has lost her speech.
Maggie’s arms & hands have Parkinson’s like tremors.
Maggie hasn’t lost all hand function, but she has lost enough.
Maggie’s right hand constantly wrings so she wears a glove to protect herself.
Maggie’s left arm constantly hits her face, so we brace it to protect her.
Maggie has had a few Rett Episodes, which are similar to seizures but not seizures.
Maggie has GI issues.
Maggie’s body temperature has a hard time regulating.
Prone to respiratory infections.
Visual sensory processing disorder
Sensory processing disorder, proprioceptive and vestibular.
Maggie has Global apraxia, which is difficulty with motor planning. Motor planning incorporates every motor skill. Walking, climbing, eating, playing,etc.
Maggie can still walk, run, jump, follow directions, smile, laugh, play, swim, climb and eat by mouth.
Everyday she works hard to keep the skills she hasn’t lost and to regain those that she has.
And Maggie is considered mild for Rett
This past year, Rett did progress. Maggie lost more hand function, we are a moment away from full loss of function. Maggie now drools more often and has tongue thrusting. She now has more anxiety. She has breathing problems, holding her breath for short periods of time and hyperventilating with regularity. Maggie has also had several seizures, right now they correlate to when she is sick. Her right arm is also very stiff – which may be the beginnings of dystonia…tbd
This is Maggie’s Rett and what she deals with everyday. These are other symptoms typical of Rett that Maggie does not yet have. But as it progresses, we may have to deal with them as well.
Scoliosis, fragile bones
Impaired Cardiac problems, potentially causing sudden death
Difficulty walking, leading to wheelchair
From the moment we get up to the moment she falls asleep, we help her fight for her skills. Maggie is a fighter! Rett keeps knocking her down, but she gets back up. This is why we fight for her. For a cure.