Rett Syndrome Awareness

A different October

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I am still in disbelief but I am ready to go ahead and put it out there, deep breath, here goes. I like October, I might even be loving it. I used to crave October, back when I lived in a land without seasons I eagerly anticipated the change in the menu and relief from the heat. Then it was Claire’s birthday and that was even better until that whole Rett Syndrome diagnosis came and wrecked it all. It turned October a month of grief, of IEP’s and worst of all fundraising and awareness. There was no footage of a cute little girl walking up to the pumpkin she liked. Birthday celebrations were depressing as we never knew what gifts to get her and what we could do to celebrate her. Honestly, I don’t even remember what we did for Claire’s birthday last year. I know that two years ago we had a bowling birthday party and we had her behaviorist there on hand to help her when she did the screaming, not breathing , ruin the party thing. It’s obvious why I stopped loving October.

Change has been in the air this year. October is no longer something that I am enduring. Instead of beating the drum of “really, please give me your money, this sucks” there has been discussion of the trials that are happening now. I have been talking to the people in Boston about the timing for Claire to participate in this exciting research. I have been watching the updates of the exciting things the girls in the trial have been able to do with their bodies. This year, Rett Syndrome is a much less depressing thing to have, not just because I have been in therapy but because doctors are closer to helping unlock the girls.

As exciting as that is, there is something even more exciting here in Rettland. We’ve been out exploring and as it turns out, Rettland actually borders on the land of the nuero-typicals. This weekend we celebrated Claire’s 8th birthday at the mall with her two best friends. For 5 hours the girls pushed her around, helped her find clothes that she liked, settle on matching BFF necklaces and play around like girls do. Claire laughed and was silly like the little girl that she is while she played with her friends and in those moments, Rett Syndrome completely faded out of the picture, they were just three friends having a great time. The next day was the fall festival at Claire’s school and for some strange reason Jared and I weren’t afraid of the potentially devastating social situation so we went. It was awesome. Jared stood around and chatted with parents while I watched Claire and her friends mill around. The principal took a picture of the trio, gave me a big hug and told me how happy she was to have us as a part of the school. I saw all sorts of kids and didn’t have a single pang of grief or thoughts of what Claire was kept from doing on her wheels. As we drove away Claire was so peaceful, her hands quiet, her eyes able to focus on the trees as we drove and a gentle smile on her face, just like her sister in the other seat. To say it was a wonderful weekend would be an understatement. The closest I can come up with is life altering in a change the way you dream sort of a way.

As fabulous as October has been I am finding that I am still exhausted. I won’t be blogging again until November. I think we’ve all become more aware over the last few weeks. To everyone who has commented, shared and encouraged me along this crazy last few weeks thank you so much for all the love, really, it means so much. I’m going to take a little more time to just be in Rettland, maybe with one foot over in the land of the nuero-typicals. This is what the view looks like from there, it’s pretty great.

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Dear Claire,

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I can’t believe that you are turning 8 today. It seems like just yesterday that we were driving to the hospital, excited to hold you in our arms. I had so many dreams and hopes for you. I wanted to see you stroll in a garden and pick flowers for your hair, hear you learn to play an instrument, perhaps a cello and teach you to cook all of my favorite things. I’ve had a hard time letting go of those dreams. As I struggled to accept the reality of what your body would let you do, you have quietly guided me, teaching me, inspiring me. Slowly I am learning that there are dreams bigger than learning to make an apple pie or play a cello. You have taught me to slow down, to wait, to leave room. As I have slowed down to meet you where you are I have been able to witness joy, peace and love more pure and intense than anything I had ever imagined. The strength that you share each day in your vulnerability is a gift that I never would have picked but in some weird way Claire, it has helped to save us from being normal. Without you taking me into Rettland, I never would have known just how varied and beautiful the world is. Thank you Claire, for hanging in there with me as I am still learning. I might not always remember all of the details, pick up on your subtle clues but I promise you that I will not give up, I will keep trying and keep fighting, with you and for you as we learn more about life here in Rettland.

I love you to the moon and back, love Mom.IMG_3407

 

Lessons from my Mom

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Mom’s teach lots of things. Somehow I ended up a relatively functional adult and my mom had a lot to do with that. Still, the most important things that she taught me have been more recent. I was just shy of 26 when my mom had the massive stroke that forever changed her. She spent a month in a hospital as she started her recovery. Claire was just a few months old when she made her first visit to see her Nana at the rehab gym, something that later on would become part of Claire’s everyday life. The part of my mom’s brain that was most damaged was the part that affected speech. At first, she couldn’t speak at all, my dad drew pictures and pointed to them to ask what she needed, a laymen version of partner assisted scanning, much like what Claire relies on each day. With lots of work my mom walked before the doctors said she would be able to and quickly regained her hand use, her speech, that was a lot slower. My mom could speak but not be able to say what she wanted. Tears would stream down her face as she struggled to tell me what she wanted from the grocery store. She would say, “I know what I want, but I can’t tell you.” Life became a game of charades. She couldn’t spell or write at first but she could come up with the craziest clues. Once I figured out that she wanted pineapple juice when she yelled out that it came from Hawaii. She couldn’t say my name and if I pointed to where the sound came from in my throat, she could speak my dad’s name, Kevin. She taught me that being able to say what you think was completely unrelated to the thoughts that were in her head. I still shake my head in awe, that when Claire was still typically developing, making her vowel and consonant  sounds, we were taking my mom to speech therapy twice a week and learning how complicated communication is and the pathways in the brain that make it happen. As Claire has aged, the lessons from my mom have been among the things most important to me. It is easy for me to understand how Claire can know what she wants to say and just not be able to.

Aside from teaching me so much about intent and communication, my mom taught me about fight and risk and not giving up. When she was in the hospital the doctors said she would be lucky to get a few more months due to the condition that ultimately caused the stroke, Amyloidosis (it’s so rare and scary that half the patients on the show House get diagnosed with it). At the time my parents stepped out in faith with a new treatment, that hadn’t been proven effective but was really the only thing that might work and it did. This summer, my mom was able to begin a trial for a new drug to treat Amyloidosis. She has to travel from Arizona to the Mayo Clinic in Minnesota each month. Travel is hard on her, cold is very hard on her but she is doing it. The best part, it working. We hadn’t seen the results yet, but when I was talking with her on the phone I mentioned how much better she sounded. Her speech was clearer and she sounded less winded. Come to find out, after the first few doses of the trial medication she is in a fib less than half as often, her heart is dramatically healthier. Watching my mom defy the doctors, live when she shouldn’t be, healthier than anyone could ever have dreamed, she teaches me to not give up, to dream big. It is her example that inspires me to get Claire into the trial in Boston, to believe big things can happen, to remember that God is bigger than I can conceive.

Tomorrow is Claire’s 8th birthday and it is also my mom’s birthday. That’s why I post this story today. To celebrate my mom, who through nothing great or fun has taught me the lessons that I never would have imagined I needed to know. Thank you mom, for being a fighter and more stubborn than any doctor, for teaching everyone around you to slow down and listen to what you are trying to say. Thank you for paving the way for Claire.

Nana and Claire
Nana and Claire

Sidenote: my dad is really great too, my mom never spent a night in a hospital alone and wouldn’t be where she is today without his amazing support.

 

 

More than 1,000 words

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Claire_copyWhen Claire was diagnosed with Rett Syndrome we knew that she would loose skills. We didn’t know what and we didn’t know when. One of the things we did as a response to this was to get some good pictures taken of Claire being the little girl that she was, to celebrate her. We were able to connect with my good friends dad. He had photographed me in high school, took the pictures at our wedding and captured Claire as a healthy baby, before any of the crazy came into play. I struggle to remember much of the day we took the pictures, that season of life is mostly a blur. I look at the pictures and remember how she could sit so well, how she would reach for things, how she was curious as any little girl would be, how she was so full of life. I’ve been meaning to get more great pictures, to help us remember, but it’s been harder than you’d think. Part of me struggles to want to remember. I don’t want memories of the season when she was so mad and so angry that she cried and screamed every day. I don’t want to remember when seizures ravage her brain and when her bright light was suddenly dim. Then I feel guilty for not getting good pictures just in case we have her funeral (morbid I know, if you held somebody while they turn blue as often as I do it would make more sense) but I didn’t want to schedule pictures so we’d have them for the funeral, who does that. So for 5 years, there were no professional type pictures. Lots of memories captured with the iPhone but that’s been it. Then Christie, one of the amazing mom’s who has been guiding me through the land of the nuerotypicals offered to take some pictures at the park. Since it was sort of a playdate with pictures I didn’t freak out. As it turns out, she is a really amazing photographer and we had a great time. She took a few pictures and then we sat and enjoyed our picnic until the sun was down. It was a celebration. Not just of Claire and that she hasn’t died yet, but of our whole family, of where we are today. Once again, I am in awe as amazing people move in and help us out, glad I’m starting to leave room and thankful for the great friends we’ve got along with us on this journey.IMG_8975-1-960

Leaving Room

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IMG_5288When Claire was 18 months old we took our first step into the adventure that would become living in Rettland by starting physical therapy. Before there were any blood tests, behavior assessment or other services, there was PT with Dr. Tiffany. She was our first point of contact for helping Claire and I hung on her every word. She explained the mechanics behind what Claire was and was not doing and how the wiring in the brain worked. The most profound thing that Dr. Tiffany taught was was to wait for her. Before we knew that Rett Syndrome was a thing that people got, we were learning to wait, to give Claire space to contribute. I’m still working on this concept, albeit on a more generalized level. I have learned to wait for Claire. I have seen the value in giving her time to make a choice because she really does care which pieces get picked out for her pumpkin, it just takes her body forever before it will do what her brain is asking. When I back off and leave room for her to answer, the payoff is often so rewarding. Yesterday, instead of silent tears in her bed (like years past) her gentle smile lit up the room when her pumpkin was complete. It was a victory for everyone involved. It reminded me that much like Claire, I need to leave space for people to help me and get to contribute. It has been such a difficult pill to swallow, admitting that I need help but I’ve started to. As I have shown my vulnerability and invited people in to assist me, I get to see the joy that they experience in helping out and that is truly beautiful. It’s one of the many lessons that I get to learn with my constant little beautiful reminder Claire. We must go slow and leave room for people to contribute, sometimes we get to help and sometimes we need the help, the good stuff is in the flow between it all.

Enough

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Living in Rettland is often very different, complicated and far from the reality that others experience. However, sometimes it so simple, it reduces life down to it’s core, where hard things are easily understood. This week I have learned about “enough”. Claire got a blister on her foot because her AFO wasn’t put on exactly right. Within 24 hours it was infected and she was covered in bumps and red splotches. Captain Awesome and Miss Amazing had done it again. We felt horrible as we held Claire down while she got two shots of antibiotics. Nobody ever means to put a brace on wrong or let the skin get dry so infection blows up like that. The truth of the matter is that we were distracted making sure that she was breathing because she stops doing that all of the time. We might also have been giving some sort of attention to Chloe, that happens sometimes. After an exhausting day getting Claire fixed up we went out because there was no food in the house and the sitter was scheduled to be there. While we were out we chose to celebrate. We celebrated that we don’t screw up more. We celebrated that what we do for our kids and for each other is enough. Honestly, it wasn’t hard to come to that conclusion because Rettland is a bullshit free zone, there is no room for drama. So even though I still haven’t sent in the forms for the field trip that came home last week or folded any of the laundry that has been washed over the last few weeks I know that I am doing enough and that it’s alright. I did take Claire to the doctor right away to get antibiotics so that her fever never got high enough to through her into cycles of seizures and vomiting that typically end up with her aspirating and getting pneumonia. I kinda feel like I am winning on this one. Whatever battle you are fighting right now, in Rettland or somewhere else, do what you can and rest, knowing when it’s enough.

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Change

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When I was a kid there was no awareness of other kids with disabilities. Wheel chairs were for old people. There were no classrooms for kids with special needs. Now I look back to realize those families existed, just in the shadows. Those kids were shipped off, far away from their communities. Families were encouraged to institutionalize their children because the care needs were too great. I knew that if I didn’t eat my dinner my mom was going to send it to the starving kids in Africa, but that was it. Over the last few weeks I’ve noticed a change in the air as I hear stories from my friends about their kids. One little boy insisted that the $8.29 he got from recycling go to help the girls with Rett Syndrome. A girl from Claire’s class last year has taken to speaking with her eyes and gets frustrated with her mom when she is not properly acknowledged for her communication attempts. Another of her friends is talking to strangers about Rett Syndrome and getting donations for our Boston effort. A family that just got their papers and are entering into Rettland moved into the town next to us. They keep running into people that know what Rett Syndrome is and haven’t had to explain it *as much*. The point of October, of Rett Syndrome awareness, is for understanding to be spread and it is. We aren’t there yet but we have made great progress. Thank you to everyone who has taken up our story, this change wouldn’t be happening without you.

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They get it!

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One of the less fun things that we get to do here in Rettland is have an annual IEP. Once a year, right before Claire’s birthday I get to sit down with all of the people from the school and go over her Individual Education Plan. This covers all sorts of stuff, like the footstool that she needs by the toilet in the bathroom, how much time she needs to be on her feet each day, how she will be tested and what she will learn, or ‘work on’ as they say. When we first started this process, just before Claire turned 3, it was very ugly. I had to record everything because our school violated so many of Claire’s rights as well as federal law. Eventually it got a little bit better, but not by much. Each year I had to get each assessment, go through it with a fine tooth comb and then go and educate the team about how they were setting Claire up to fail or not seeing what she is capable of.

For years I have started the meeting with a story. A story of how Claire was a healthy normal baby. I explain how she still is that same normal girl that can understand but that her body isn’t working. I tell them of the hope of the research happening. How I don’t want to have to explain to Claire that we let her fall behind because we didn’t believe in her once she gets a treatment that lets her use her body. Over the years I have spent an enormous amount of time begging for her team to see what I see and to treat her for the normal girl that she is, but not this year.

Yesterday’s meeting was surreal. I am pretty sure that at this point, Claire’s teach gets her and how she learns more than I do. I honestly didn’t bother looking at the draft they gave me until the day of the meeting. The report said things like, “Claire has made great progress toward her goals.” “Claire is a second grade student with typical likes and dislikes.” and with the progress for each goal this statement followed ” It should be noted that due to her orthopedic impairment and severe apraxia, data may not clearly show her true understanding.” I wept happy tears as I read over this instead of the typical red lines and angry comments in the margins. They get her.

This year the meeting opened differently. I thanked them for the attention and love that went into the assessments and reports. I told them how we will be traveling to Boston a few times over the next year and how Claire may present a little different when the day comes that she is receiving the treatment. Yes, I pretty much just said keep it up and take good notes. Sure there was a bit of a conversation over the communication goal that the new SLP wrote, I know that with time Claire will win her over so no worry there.

The only thing that I can’t understand is why, even when I know it is going to be great, I get so nervous driving to the meeting that I nearly pass out. It just stinks that we have to be having the discussion. Despite the meeting going great and everyone being in agreement (which is insanely rare) I was absolutely exhausted on every level. I guess it isn’t that strange, to have even the good stuff exhaust you, when you are in Rettland.

Now that this is behind us I guess all I have to do is just show up each day and enjoy the beauty of watching second graders be second graders without having to worry about much else at school. I think it will be harder than it sounds to just get to be a parent and not an advocate but I am up to the challenge.20130902-174057.jpg

Today’s Reality: Physical Therapy

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Physical therapy is a very big part of our living in Rettland. Claire does pt with a horse once a week and twice a week she works with the lovely Sue. Sue is one of the people that continues to really challenge me on how I see Claire. She was the one who told me I was crazy for not wanting to enroll in the IGF-1 trial. Long before that she started a conversation with us about independent mobility. At first I thought she was crazy, I was really taken back, honestly the thought had never crossed my mind, other than Claire learning to walk. For a few weeks Claire has been working on controlling a power chair with her head and each time I am shocked at the progress she makes. I guess I have become happy to just not loose function, making progress had fallen off my radar. Thankfully, Sue and Claire worked together to put it back up there. Claire alternates, working on the power chair and walking on the treadmill. We are making slow but steady progress with both which is really amazing. It isn’t a cure but it’s what we’ve got today and that is a very powerful thing. IMG_5132

The Time is Now

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There is a bit of a conundrum in Rettland. We have all worked hard to raise money for research. Now that there are trials, they aren’t full because participation in them requires more than what most families have to give. I have decided to attempt to bridge this gap for the IGF-1 trial. My reason for picking this one is simple, it’s the one that we got into and I want to see that data transform into help for all of the families affected by Rett Syndrome. A half full study won’t do that. I have heard from too many people 1. We would do it but we can’t afford it. or 2. We would do it but our daughter isn’t eligible. So, I have gone and lost my mind and started a fund. My hope is to get enough money to provide awards to enough families to get the trial full. While living in a world where trials are starting is great, wouldn’t it be better to live in a world where trials have concluded, researchers have learned and we are closer to Rett Syndrome being treatable. That’s my dream. If you would like to help, please visit my page http://www.gofundme.com/curerett