There's something I've noticed about Rett girls, not just my own: Their presence can make the best difference in someone's life.
Nothing else in this world so peaceful.
There's a lot of yourself you must give, juggling doctors, nurses, other specialists, therapy, and still making time to treat them like the wonderful people they are, as well as siblings.
It's not even close to being an all-give situation. These girls, just being themselves, teach us so much about life. Campbell is the happiest, and in some ways, easiest child I've known. If she gets her basic needs met she is happy. Sometimes she has painful gas or other issues she can't tell me about exactly, but for the hand she was dealt in this world, she is happy and content. She may want more, but doesn't make a fuss about it. She's good company, and just a smile from her can change the course of a day.
It's not all giving: You get so much back in return without always realizing.
More infectious than ebola.
I'm getting close to a solid two-month, stabbing headache. Any time I
tell someone it feels better, my optic nerves decide to have knife
fights, and they both constantly and epicly LOSE. The only time my
head has hurt this bad was when I was in the hospital with a nitrous
patch. My blood pressure has been too high for close to 15 years now,
and lowering it HURTS. This was confirmed by my doctor - with all the
extra meds I got, the ones for the blood pressure are working perfectly, FIRST TIME.That's a huge relief for me.
I mention the headache for a reason. I was feeling it hard last night,
eyes watering and all I wanted to do was lay down. I couldn't until I
filled Cam's feeding machine at 10. I hung my head down and closed my
eyes. Cambell, oh so gently, grabbed my finger and pulled my arm so that
it was around her, and when in place, started stroking my forearm as if
to reassure me. I opened my eyes and looked at her and she gave me the
biggest smile and laugh. Then she farted and we both laughed.
Most people won't appreciate what a miracle such intentional hand
motions are for a Rett girl, but I think most will appreciate what a
miracle she is as a human being.
Having a child with Rett is a profound experience.
Blogging is a terrific way to get some thoughts, important and otherwise, out into the world to share.
Blogging about your child with Rett is hard. For my personal ramblings, stories, poems, geekish writings, I'll post things without a second thought. Nothing is ever good enough to write about my girl.
Campbell is 6, going to school, and making a ton of friends. So much has happened I want to share. As I reach brief moments of calm, long enough to put thoughts and experience into words, more happens. Sometimes a setback, sometimes amazing things happen. The latter is more often the case lately.
I'll do some elaboration in the "near" future, but here are some highlights:
Campbell had a g-tube put in. For those unfamiliar, it is a feeding tube. Hard to think about anyone putting holes into my angel, but it has been terrific for her.
Campbell lives with me full-time now, with her little sister.
We've moved to a new city, with new resources, though completely unfamiliar territory with no established network of support. As scary as that was and is, it was one of the best things I ever could have done.
Campbell is finding, on her own, new ways for her to communicate with us.
She's just an awesome kid, and that warrants it's own bullet-point
There's so much to share when it comes to my little peanut. She's brought out the best in the world around her, which shows that much more since moving to the "city". There's a lot to do, and it feels like I'm feeling my way in the dark here, but never has anything been so worth it. I hope that sharing my experiences can help others, even if it's just to get an idea where to start.
To those new to the journey, welcome. To those already sharing the journey, feel free to add in the comments to any of my posts. There's so much that we share, and so much more that's unique.
Rett Syndrome hasn't taken the joy out of Campbell's life. She's a beautiful 5 year old who can get almost anybody to do what she wants with a smile.
Preschool
I dreaded this day. Her first day of school. I was scared of how the other children would treat her. I was scared of how the teachers would treat her. It's bad enough that a lot of doctors didn't know much, if anything, about Rett Syndrome, and I knew the teachers didn't know what to expect.
Campbell on her first day of school. She seemed to be telling me she'd be fine.
She seemed eager to get inter a new situation. I realized how much I'd been wanting to shield her from the rest of the world, but she needed to be a kid. I had to laugh a little, she looked at me and reassured me that she'd be ok.
She was right. She's got such a wonderful smile, the other kids would wind up giving her all of the toys there, one at a time, over the day, just to see who got the biggest smile. This continued. Apparently, children have to be taught to treat other kids differently; none of them thought of her as any less than themselves.
She keeps engaged, and can enjoy the activities the other children enjoy - she just needs help with the motor skills.
For quite a while, I was happy that Campbell didn't show any signs of seizures, which is a huge concert with Rett Syndrome. She started having seizures, though, and seemed to have them in spurts. It's absolutely maddening to have to watch your child go through that.
She's been in the hospital a few times, as they have gotten too frequent on several occasions. She is completely exhausted, and sometimes couldn't rest more than 30 seconds between seizures. They would give her medicine, which was quite sedating(though I couldn't imagine her not needed the rest), and eventually stabilized her.
One of her hospital visits.
At home, she's on anti seizure medicines, which have helped a lot, but have also made her very much more tired. She is a bit more quiet more often, but she still manages to be one of the happiest girls I know. She naps more frequently, but "recharges her batteries" quickly.
As of yet, she's still non-ambulatory, but makes strides in therapy. Doctors have said there's no reason for her not to walk eventually, and it's the best for her prognosis, and fending of scoliosis, another common complication with Rett girls.
Medical news is very positive. Despite the relative rarity of Rett, more and more potential treatments are being developed. I can't stress this enough:
Treatment of Rett Syndrome can lead to effective treatment of Epilepsy, Parkinson's, Autism, Alzheimer's and many more. It is considered the "Rosetta Stone of neurological conditions".
For all the fear I've had, and still have, that Rett will keep Campbell from enjoying life, she's amazingly positive. She's still almost always outwardly happy right up until the point she needs something, and needs it quite a bit.
She's also still a fan of daddy making faces, and tickle-time.
is a neurodevelopmental disorder affecting gray matter. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive hand movements such as mouthing or wringing are also noted. Girls with Rett's Disorder are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.
The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
Rett syndrome is a severe, genetic disorder that affects the way the brain develops. Occurring almost exclusively in girls, Rett syndrome produces symptoms similar to those of autism.
Most babies with Rett syndrome develop normally at first, but their progress often slows by the time they reach 18 months of age. Over time, children with Rett syndrome have increasing problems with motor function that may affect their ability to use their hands, speak, walk, chew and even breathe.
The above is all true. It gives you symptoms of Rett Syndrome. The definition, even clinical description, can't convey what Rett Syndrome is all about.
My girl, Campbell, was born October 31st, at 11:53PM in 2007. She had problems from the start with her oxygen conversion. It was scary seeing my child have her hands lifted up, and dropped lifelessly. Then came the tubes. 11 days in the hospital, and then she was ready to come home.
She was a very content child. She was always happy, unless she needed food/drink/nap/changing. A very exuberant girl. She had quite the personality.
After a few months, we started noticing she wasn't hitting any of her developmental milestones, like rolling over, crawling, walking, socializing. For the first few months, we weren't concerned. Her overall health was good, and she was happy. Then the time came, a point of no return, when we were forced to acknowledge something was wrong. Not knowing what it might be or what it could mean puts some unpleasant thoughts in your head, let me tell you.
Her mother made an appointment with a doctor to get a genetic test done. Lo and behold, The results came back - R270X mutation: A form of Rett Syndrome. This is the exact moment the world changed forever.
All of a sudden, one gets to know one's self. There were tears, not because of anything that happened to me, I wept thinking of what it would be like for her. I've always wanted her to have every opportunity in the world. There were some selfish thoughts, too. I looked at her and she's smile, and part of me took comfort that this precious little girl would always need her daddy.
She was enrolled in physical and occupational therapies right away. After two months, she was able to hold herself up on all fours - "quadruped position". I didn't expect it, but I certainly didn't expect what happened next. This is one of those moments you wish your whole life you had a video camera handy. I had just that. Watch her - again, she had never so much been on all fours on her own before. Always sitting or laying down.
She was able to stand on her knees! reading the definitions above, knowing 50% of these girls are non-ambulatory, for her to make such progress so quickly, and to be in such good spirits throughout, it was a ray of hope that nothing could dim. The look of delight on her face was certainly contagious that day.
Developmental and speech therapies were soon added. At home, we also were able to get in-home habilitation specialists to work on therapy goals, and keep things consistant.
Rett Syndrome is a condition in which the protein that forms around synapses in the brain to protect and solidify them isn't produced properly. This lack of MeCP-2 keeps the brain in an immature state. We know how to move our hands, feet, arms, legs and whatnot, because the use of the muscles makes a connection in the brain. The more we use the same muscles the stronger the connection gets. The MeCP-2 protein covers this connection, to keep the connection in place, so we don't have to consciously think about how to move each individual muscle any time we move. The use of the muscles is learned. In Rett Syndrome, girls do not adequately produce this protein, so rather than atrophy, the synapses in the brain remain in an immature state. Always eager to learn, but not always able to hold on to what is learned.
We read of a study, the results of which were published 3 weeks before Campbell's diagnosis, in which laboratory mice that were given the genetic code for Rett Syndrome were injected with IGF-1(Isulin-like Growth Factor) to see if the molecular chain could compensate for the lack of the MeCP-2 protein. In
laboratory models, over the course of 3 years, the symptoms of Rett Syndrome had been reversed.
This was exciting news, yes, but there hasn't been a single neurological disorder that could be reversed in human history. But there it was - in mice.
I checked the article, and by finding the names of certain people, we able to locate the hospital that plans on conducting these clinical trials with IGF-1 in humans. I made contact with the people, and we are currently waiting on the start of the trial. Campbell has an excellent chance of acceptance - Can go to Boston once a month, she is the right age (2-14) and her mutation ends with X. There's a reason for that. I'm not going into it, but trust me.
We saw Dr. Omar Khwajha in Boston, he was part of the team that identified the genetic cause of Rett Syndrome. He had some street cred. The appointment was simple - driving through Boston was not - after looking at Campbell, he said she's very mild symptom-wise. Also, that she should be walking within 1-3 years, and that is her best hope to fight off scoliosis, which is typical of Rett girls.
You've gotten the abridged story so far.
But WHAT is Rett Syndrome?
I watch Campbell playing and enjoying herself, and it makes me smile to no end. Lately, she's been more fussy than usual, and it puzzled me for a while. She had been so happy. Then it hit me like a load of bricks: Her brain is fully functional, but the muscular control is lacking. She's frustrated. She wants something and doesn't know how she can express her wishes.
Rett Syndrome basically takes a child away from herself. She wants to say and do so much, but the motor function isn't there. It's like being in a nightmare where you can't scream, but it's real. And it's for life. This little girl with hopes and dreams she's currently unable to express. Kills me to think about, but there is hope right around the corner.
For more information on Rett Syndrome, and stories from more parents and children affected, go to http://rettsyndrome.org
TO DONATE TO RETT SYNDROME RESEARCH ON BEHALF OF CAMPBELL, CLICK HERE
