It’s been a crazy to think back over the whole arch as we finish the final time point for this trial. I was taken back to when we were first diagnosed. We were given paperwork for a disabled parking permit and Make A Wish and sent home. All the doctors and specialist that filled the schedule while we searched for the answer were suddenly a thing of the past. Everyone knew that there was nothing that they could do for us.
When we enrolled in the trial part of the appeal was in getting to go back to a place where there were doctors that were trying to help. I’ve been nervous to step back outside of that as we wrap up this process. There is an odd comfort that comes from being involved with medical professionals. It’s a false comfort as they weren’t actually treating Claire, but it felt good.
I wish I could better describe the last 10 days or better yet, what we’ve experienced over the last year and a half. All I can come up with is that I’ve changed. Claire’s changed. Jared and Chloe have to. We got to try to do something to help Claire. Three years ago, that option wasn’t on the table.
Today we are on our long journey home from the hospital. Claire is peaceful and proud of what she’s done. Seven years ago we would have never dreamed that she would be able to do anything for herself, much less be part of changing the course for Rett syndrome. Until we started the trial we only knew a Rett syndrome that took.
Today I see the potential for a life with Rett that can get better. The game is changing. I’m not sure what to do with that, other than to keep dreaming. This has been hard but it’s not time to give up. Not yet.
I really wanted to beat Rett syndrome. I wanted to out plan it. I didn’t realize it at the start but I feel confident saying that as I look back. When we signed up for the trial I was hopeful that this could be an empowering experience, that we would be able to soar to new highs as world changers. I wanted to give Claire back some of what was stolen from her with this mutation.
The thing is, Rett syndrome isn’t something to win against. It’s an ever-present part of our reality that frankly makes it much more complicated. I want to look back on this process and see it as a series of adventures but honestly it feels more like a repetitive ass-kicking. That said, I’d do it again, in a heartbeat.
We didn’t sign up to get treatment for Claire, that’s not what clinical trials are for. We hope that this will be part of a process that will lead to treatment for Claire and all the girls in Rettland. Most importantly, we wanted to enable Claire to be part of her solution. We wanted her to feel like she made a difference… and she has.
The best part of this process has been seeing her transform outside of the effects of the drug. Claire has developed a confidence that transcends words. She has a peace about her that stems from doing what she could. There is a smirk on her face as she rolls through the airport terminal that subtly says “you’re welcome world”. She has loved getting to leave her mark and I am so glad that we’ve done it.
I promise it hasn’t been all hard, there have been many highlights and that will be my next post. Today I’m taking a moment to realize that even awesome things, when tainted with Rett syndrome become incredibly challenging. We love Boston and being able to be here but it wasn’t an escape from Rettland, more a change in location.
I’ve got so much that I want to say about this trip but I just can’t wrap my brain around the words yet. It has been very emotional and I hope to write about it soon.
The last few days have been an adventure in every sense. We were up late washing loads of vomit laundry just hours before our ride to the airport came at 3:30 am Monday morning. Following that, Claire slept for two days, which was a scary way to start the trip. Wednesday Jared had a lot of work to get done so I planned to take Chloe to learn about research while he got to business. The only problem, I spent most of the night with a migraine and hugging the toilet, so when it came time to go, I was in bed, trying not to move.
It wasn’t how things were supposed to go. Jared (aka Captain Awesome) fed the girls and got them to the appointment by 8am and brought a plate of food up to the room for when I was ready for it. He managed to work while the girls watched High School Musical in one of the autonomic recordings and Chloe was a superstar with all the changes to the plan, she rolled right with it.
By the afternoon I had my feet back on solid ground and we went out to meet another family in the trial for dinner. After that we decided to walk the 2.5 miles back to the hotel and it was nothing short of pure joy. Claire giggled as she rolled over the bumpy sidewalk and her sweet smile finally graced us for a while. I listened to the gentle breeze rustling the leaves on trees. Chloe talked non stop about all the things she observed and Jared grinned. I’m finding that Boston is just life condensed. There are days when it all goes wrong and others when it goes all right. The thing that makes it bearable are the people I’ve got with me on this adventure. I’m thankful that Jared and I can be doing this together. I’m grateful for the bond that Claire and Chloe share and how everyone agrees, the priority right now is doing our part to help Rett syndrome.
More to come on the many other very interesting aspects of this trip. This is my lengthy way of saying, I couldn’t do it without my awesome crew.
Yesterday we had a fairly routine visit to Katie’s Clinic for Rett Syndrome. We met with multiple specialist who all agreed that we were doing everything correctly that we could control, which was very nice to hear. Claire got special time with Dr. Mary who is like the Lorax of Rett syndrome, she speaks for the girls. It was her guidance when we were first diagnosed that gave us hope that we could learn to live and that Claire could thrive, I love Dr. Mary. As we prepared to leave we got to looking at old photos, because the awesome volunteers there can just pull up cute pictures of Claire over the last 6 years on a moments notice because they are amazing like that. It was a trip to see her when she was so little and vibrant, before Rett had broken her spirit. It took me back to how hard those days were, when I would feel horrible for crying when she was still smiling because she didn’t see the girls behind her twirling in their dresses. We are so much better now. I can look back and see just how far we’ve all come and it’s remarkable.
We gathered ourselves up but before we left, we had the opportunity to meet a family that lived just over an hour from us. I nearly lost my breath at the sheer joy that exploded from this little girl as she and Claire connected through their eyes. I looked to the mom and could see it, the struggle to breath, the overwhelming grief from the recent diagnosis nearly crushing her. We spoke through a translator and she asked a few questions about Claire. As I looked at her precious daughter I saw so much hope my throat nearly closed and I got goosebumps.
The travel to Boston has been wearing on me. We’ve been in the trial so long that I had lost sight of the why and there she was sitting in front of us, tiny and wide eyed. It’s likely that this girl will have the option of IGF-1 (assuming that the data continues to show what it did in phase 1)before she is Claire’s age. That’s why all this crazy makes sense.
It’s a game changer.
With each generation the story is getting better. Before we were diagnosed Katie was and her parents made a clinic so that others didn’t have to go through what they went through. We have the benefit of the clinic so Claire is making her way through the IGF-1 trial. I don’t know what is coming next but I can see the trend and it excites me. Rettland is becoming a better place, still hellish in nature but the reprieve more accessible.
You know that week when it’s all so much more than you can handle that you just shut down, I’m having that week. Participating in the trial is taking it’s toll on all of us; we’ve been in our new home for a month while construction is almost done; and it’s summer, the absolute hardest time of the year for our family.
With my thoughts in too much of a mess to sort, I have taken to asking Chloe a lot of questions. I worry about her with the high levels of crazy, so asking her questions seems like a good idea. Last weekend we saw the new movie Inside Out, so lately our discussions have been a lot more about emotions.
Twice this week Chloe has sat over her sisters ashen face and sang to her while she waits for her to resume breathing. I waited a little before I asked what emotion she felt driving, would it be fear, anger or sadness? No. It was hope. Chloe went on to tell me how she felt “hopeful that Claire will start breathing again and hopeful that doctors will make a medicine so she can talk”. She was so certain. She knew her sister would return soon and she is certain that treatment is coming. Sidenote: I am dreading the inevitable emotions when that doesn’t happen and trying to relish her innocent conviction.
I hadn’t realized it until she said it, but I had stopped hoping. I was just pushing because that’s all I felt like I had in me, putting one foot in front of the other. Today I am so thankful of the little voice that reminded me to hope. It’s so easy to forget among the medication logs, multiple appointments and constant readiness for seizures.
Today I’m enjoying everyone breathing and remembering that is what gave Chloe hope. I’m aware that my fatigue from travel is giving others hope tonight as they take comfort in knowing trials are happening and progress is being made. I’m hoping with Chloe that the doctors will come up with something because that would be rad.
Can’t believe that I am already sitting here, on the plane, on the last leg of our 10 day adventure to Boston. After all, time flies when you are having fun, or trying to just keep your head above water. We knew that it wasn’t going to be a vacation and it wasn’t. It was an adventure on every level. While we were away I saw this quote from Jon Acuff. When I saw this a giant light bulb went off in my head. This trip is anything but safe and somehow I had been overlooking that. I wanted it to be smooth and easy. It hasn’t been. It has been an adventure, which is what we had signed up for at the start. We enrolled in the trial because I dreamed big enough to believe that with time, there might be a treatment for Rett syndrome one day, not because we wanted to play it safe.
Trials are hard, it sounds obvious but somehow it is glazed over. We signed up for a commitment of over 70 weeks and 7 trips across the country for something that might not help Claire or ever be approved for Rett syndrome. We didn’t sign up for a treatment for her, we signed up for the process of learning and experimenting and we are happy to be doing it. But it isn’t safe and we are at this point very tired.
I wish I had some fabulous update about all of our adventures that went perfectly smooth but that isn’t this story. So here are some of the ups and downs with pictures.
I won’t go into all the boring details of the many mistakes of Captain Awesome and Miss Amazing. But I did get out at the airport at the completely wrong area with both girls and all the luggage so we took the full “tour” of Logan Int’l. By the time this happened it was pretty much par for the course.
We made the most of it the best we could but it was a hard trip. Seeing Claire sick is really hard. Dealing with that not at home is a whole new level of nuts. But that’s why we are doing this. Because what Claire has is hard and it isn’t going to change itself.
I try to embrace the adventure, I really do. But right now, I’m happy to be heading back to the safety of home. It was good. I am so glad that we can be doing this. But I am very tired.
Funniest thing. For the second night in a row, Captain Awesome and I were sitting on the floor splitting an appetizer and a beer from the hotel restaurant for dinner while Chloe valiantly tried to not go to sleep. As we picked at the food Jared says, “I can’t believe we are this lucky.” Side note: this sort of comment is why he is often refered to as Captain Awesome. Lucky. Lucky? Lucky that our daughter won the genetic lottery with a disorder that could take her life any night as she sleeps? I laughed as I thought about his statement.
But he was right. We are so lucky. Better yet, blessed.
Claire got something that could be diagnosed. There are trials for it because many amazing families have paved the way for us. It is a gift for Claire to get to participate in these trials, to be able to know she is doing something for herself and her peers living with Rett syndrome.
We’ve been able to have great jobs and family that help so that we can travel to this clinical trial. We are able to rent a car and take Chloe on outings and stay at a hotel that has a great restaurant.
As I sit here I struggle to believe that I am really getting to live this great adventure. It’s so much better than I could ever try to explain. While sometimes it is very scary out front, living on the edge I must admit that the view is spectacular and I am so grateful to take a moment and bask in it.
An Irish Prayer
May God give you…
For every storm, a rainbow,
For every tear, a smile,
For every care, a promise,
And a blessing in each trial.
For every problem life se
A faithful friend to share,
For every sigh, a sweet song,
And an answer for each prayer.
It occurred to me this weekend that it was exactly 8 years since we moved to the Santa Cruz area. I had been very ill and living over 700 miles away from Jared for months. As tired as I was, I was optimistic that the crazy was behind us and the normal happy life I had dreamed of was about to start.
You can imagine my surprise when the next day our pediatrician asked me what happened to Claire. It had been 6 months since we had seen her and she was very concerned. We started early intervention that week and a few months later got the diagnosis.
I’ve learned a lot in 8 years. I’m just as optimistic but also more aware of reality. As I take a moment to pause in between preparing for 10 days in Boston, the crazy of our daily and life and the process of buying and selling homes all I can think is, I have no doubt.
I have no doubt that things are going to go sideways. At the very worst time something very unfortunate will happen. On previous trips we broke the handles to the wheel chair and Claire had crazy seizures in the airport bathroom. Certainly, something like this will happen again.
I have no doubt that we will get the joy of experiencing humans at their best. When you are out adventuring in Rettland amazing people seem to be everywhere. The largest single donor to Rettland Foundation last year was a stranger on an airplane. In cabs, at baseball games, all over the place, we get to connect with really beautiful humans and it is the best part of living adventure style.
I have no doubt that we will make it. Sure we’ve agreed to sell our home and we have no idea where we are moving but it will work out. We will be ragged tired after our trip and not get a chance to recover before life resumes pace but somehow the process won’t kill us.
In a life where everything is crazy and upside down, it’s the one thing I know. When you live big and you dream and you chase it, it will hurt and it will be awesome. I have no doubt.
Growing up Thanksgiving was my favorite holiday. We would go to my Great Aunt Claire’s house, there was always lots of food and family, occasionally some extra friends as well. After the meal there was some combination of football and A Christmas Story on tv, there was golfing (we lived in Arizona) and my favorite, playing cards. Aunt Claire was my hero and those times are among my most cherished childhood memories. I grew up and life got complicated. Aunt Claire passed unexpectedly from a heart attack, my career had me working holidays and then we moved to California.
Thanksgiving was never the same but it was still my favorite. Then out of nowhere, Claire gets diagnosed with Rett Syndrome which was weird because her hands worked so well. November 2007, 6 weeks after the diagnosis the three of us went to some restaurant in Santa Rosa. Claire fed herself Thanksgiving dinner and the next morning she woke up clapping and staring at her hands, she hasn’t fed herself a meal since.
Since then Thanksgiving has been a tough one for me. It’s hard to sit and count your blessings when deep hurt is so fresh and the only thing you can feel is isolation.
This year, I’ve got a different perspective. My word for this year is ‘unless’ and it has led to the wildest, better than I could have ever imagined year.
2007 was the year Claire last fed herself, unless she starts to again. The thing that I have most figured out is that I really have no clue what the future holds. I didn’t think that I’d ever start a company more or less a non-profit. I didn’t think I’d still be married and what we have now is richer and purer than anything we could have strived for. I didn’t think I’d ever have a drug to give Claire to help with the mess in her brain but in 2015 that could happen.
I don’t know how that will affect her and if she will regain any hand use but I’m not ruling it out. I’m going to live like the future of Rett syndrome is unknown because it is. The only thing I know about is what’s happened and what’s going on right now.
Claire often has seizures on holidays so we aren’t planning a lot. A simple meal of ham, potatoes, corn bread stuffing and brussel sprouts cooked with bacon. We will decorate for Christmas and watch movies and enjoy what we can. Who knows, this could be the last Thanksgiving that Claire can’t feed herself. Now wouldn’t that be a fun memory!
“Smile alert, smile alert, somebody’s hiding some giggles!” Chloe yells out across the room in the middle of the afternoon. It was the end of quiet time and Claire was just waking up from her nap. As soon as Claire had two eyes open Chloe was in her bed doing whatever “secret sister” silliness they do. An hour later I was cooking dinner while they watched tv when Chloe yelled out again, “seizure alert, seizure alert! mom!” I had already been running toward them. As I held Claire, Chloe gently reassured her that it was all going to be alright and that she would start breathing again.
There’s nothing about seizures that I like but what gets me the most is that our entire family is constantly on alert. We strive for balance and to not have life revolve around Claire but with the fear of impending “episodes” or seizures that is hard.
For us, right now, that’s the one thing I would fix. I can deal with the spoon feeding and the communication struggles. My back aches from the transfers and carrying but I have a great physical therapist that is keeping me together. The tension that comes from never knowing when it’s coming, that could break me. It already has in the sense that I am so sad for Chloe, who at the age of 5 has taken it on herself to constantly “alert” us to Claire’s state. There’s the smile alerts, giggle alerts, sad alerts and trouble maker alerts in addition to the breathing and seizure alerts.
It’s exhausting. I’m exhausted. We’re all exhausted. The thing is, it won’t always be like this, I have reason to hope for better. Last August when we went to Boston we were a different kind of tired. We were exhausted from having too much fun. For whatever reason, Claire had a really good few months and in that time our little family came down from high alert. Life was easier, we all laughed more and the focus wasn’t on Claire’s breathing.
It will always be a very special time for our family and I am hopeful that it was due to the shots. I hope that it was the drug in those little vials and that we can resume it soon after Claire completes the trial. I could really get used to not living on high alert.