Friday, June 3, 2016

Fly Abby, Fly!


When Abby was a little girl she used to talk about how when she grew up she wanted to be able to fly. I try not to be the kind of Mom that shoots down these pie in the sky ideas because who ever knows what is truly capable. So we constantly have talked about ways that Abby could fly someday. Maybe she would be a trapeze artist? Maybe she would become an engineer and invent functional wings? Maybe she will be a pilot and fly all over the world?

Then something wonderful happened. She learned to fly all on her own. I have talked in this space about Abby's love of long jump. Last year she almost qualified for the Junior Olympics at just 8 years old jumping around 7 feet. Now... well now she is jumping almost 10 feet. She stands just 4 feet tall and she can get that tiny little body to jump more than twice her own height. If that isn't flying I don't know what is. 

As I watch her zoom that tiny frame down 50 meters of runway she truly looks like she might just take off into the sky. The look on her face has gone from the smile of last year to a grit of determination and might. She rocks into her start and moves with ease into her sprint. Normally she might stumble when running or playing, but not now. She does not misstep. She runs faster and faster until the white line is under her feet and she doesn't just jump. In one motion she both springs into flight, while pulling her knees as tight to her body as she can. With arms outstretched she flies. She lands gracefully into the sand, sometimes tumbling into it. 

She is tiny and slight but still, she has found a way to fly.

video

Friday, May 27, 2016

Third Grade

Abby girls is winding up her year as a third grader. All in all this year was a big success. She had her usual ups and down socially. She is still very impulsive, so that gets her in trouble sometimes. Academically she has flourished! She is reading above a fifth grade level, her stories as so imaginative and thorough. She was eligible for the highest math group for next year, although we thought the pressure might be too much so we bumped her down one.

She continues working with her occupational therapist on things like her struggles with penmanship, cutting, tying her shoes and buckles. I think time will probably heal those things best but she remains firm in her practice. Her physical therapist is the same woman since Abby was 3 and she is just an angel. She understands all about RS and how it impacts her motor function. She has brought Abby so far!

Third grade proved to be a wonderful year. When I think of her entire year, her RS almost never was a true issue. I never thought I would be able to say that. Yes she is in inclusion. Yes she has some issues that she has to overcome. What's bigger is that her diagnosis did NOT hold her back. It was not the exclamation at the end of her sentence. No one looked at her and asked what makes her different. She is just Abby.


Monday, April 4, 2016

A Word On Food Allergies

Food allergies can be incredibly limiting if they are severe enough. In Abby's case she has been unable to eat or touch egg, milk, tree nut and agave for her entire life. She was previously allergic to blueberries but had the opportunity to "food challenge" out of those allergies. So what exactly is a "food challenge" you ask?

Briefly speaking a food challenge is a way to investigate how the body will react to an increasing amount of the food in question. For instance, when abby tested for blueberries she ate a small amount of blueberries mixed with vanilla yogurt every 20 minutes until she had consumed a full serving. If her reaction was minimal she "passed" and can now consume that food. Her reaction to blueberries was very mild so it was introduced into her diet and as she consumes it more and more her reaction becomes smaller and smaller. These tests are conducted over the course of 6-8 hours at a medical day unit of the hospital with close monitoring from a nurse and doctor.




The next step in her journey is more of a leap than a step. We are moving into the baked egg and baked milk territory. Recent findings showed that even in cases of severe skin and blood testing, a high number of patients can tolerate small amounts of baked eggs or milk. In order to determine if you are a candidate you must complete a food challenge. If you are fortunate enough to pass these tests you can eat baked eggs and/or milk and the theory is that by consuming the milk and egg in the baked form you might be able to build a tolerance to different forms.


Abby went through the necessary blood and skin testing and despite her numbers and skin tests growing, her doctor has decided to move on to a baked milk challenge and hopefully baked egg if she passes the first.

The idea of her being able to include these items in her diet is both exciting and terrifying. As a parent of a food allergic child you live in fear of a slip up. Someone doesn't realize an ingredient slipped in, she asks if it is allergy friendly and someone doesn't know. There are so many things that can go wrong. However, the answer to this is strict avoidance. I make her lunch and her snacks. I send food when she leaved the house. It minimized the potential for a problem. However, if we move from strict avoidance to baked it poses all new dietary questions and issue. Any unchartered territory is scary and this is no exception.


For now she is just thrilled that the idea of non-vegan donuts might be on her horizon. 

Monday, February 22, 2016

A life so different

When your child is diagnosed with something rare and largely misunderstood you become a member of a special kind of club. It isn't the kind with a waiting list of much prestige at all. Whether you want in or not you are a card carrying member for the moment the words are uttered.

Rhombencephalosynapsis.

That is what is stamped on my card. Simply put it means that my daughters brain did not form in the way it should have. Her cerebellum is fused at the midline and she has other brain malformations to go along with it. The other interesting thing that happens when you start carrying your rare diagnosis card with you, is that you quickly begin to matriculate towards your medical degree. Words like aqueductal stenosis, agenesis of the corpus callosum, ventriculomegalies, hydrocephalus all become a normal part of your repertoire.

You eventually find a point in your life where you can be in the room with ten medical professionals and yet you, yes you, are the expert in the room. You find yourself explaining diagnostics, therapies, outcomes and medical implications to people who have spent years to earn their white coat. They ask you questions. They look to your expertise to take their next step.

Rhombencephalosynapsis.

There are moments when this is terrifying. I have no MD, no DO not even an RN and yet I am supposed to be the thermometer on my child's condition. The other side of this coin is that I also can help use my influence to keep my child moving forward. By earning the reputation of the resident expert in the room on rhombencephalosynapsis so one can tell me that she has reached her full potential. The sky is the limits and that is the freeing part.

Rhombencephalosynapsis.

There was a time when that word made me simultaneously shutter and stop dead in my tracks. Now it is just a word. Twenty-two letters long and light years away from any real answers. But it is just a word.

Sunday, January 24, 2016

Snow and RS

It's been ages since I have had an opportunity to put together a post. Abby is doing wonderfully in third grade, with a teacher who can truly handle her well. She's had some balance issues in the past few months, which we are attributing to either inner ear fluid fluctuations or a growth spurt. Really, and thankfully, there is little to report in the world of RS.

We did notice a funny RS-related accommodation she has made to handling the snow. For years she has used these ski pole like contraptions to make her way through snow. Without them she can't manage to walk almost at all. When she was smaller she was stuck in an inner tube with a rope. :D This weekend was our first big snow fall and we noticed that she was making her way through the snow without her poles.

As it turns out she has discovered that when she comes to a larger pile that she can't make it through she flops on the ground and shimmies to shallower snow. It's hysterical... and it works! She was climbing the big snow hill (from the plow) and managing to sled down ON HER OWN! It's amazing how these kids can manage to make their world work for them!


Tuesday, November 10, 2015

Fun Run Sponsor's

A Message From Abby and Grace:

Hello Friends and Family,

Abby and Grace will be participating in a cool program called the Rice Owl Fun Run. They’re  raising money for their school and learning about fitness, leadership and character. On November 18, 2015, they will run 30 to 35 laps around the Fun Run Speedway to help our school. Would you please be one of their sponsors? They can't wait to run with all of their classmates. Even just ten cents a lap would help! They'll tell you how many laps they ran after the Fun Run! Thanks for sponsoring them!

Thanks!!

Kristen, Abby and Grace

Click here for Grace’s Page: https://funrun.com/a/s/4LqBX6eH 
Click here for Abby’s Page: https://funrun.com/a/s/C6bWWViw 

Monday, September 14, 2015

Just Like Riding A Bike

There is nothing more exciting than the first time those training wheels come off. Sure, every kid will fall a couple of times but they will get back up and try again. Within hours many kids are off to the races. Except, if that kid has Rhombencephalosynapsis. Learning to ride a bike and manage balance is a challenge for all kids. Imagine trying to learn this new skills while struggling to maintain balance on two feet!

Well, that is why watching this video sent to me by Heidi of Ethan mastering two wheels brought tears to my eyes. Go Ethan, Go!!!!

video

Saturday, July 25, 2015

Slowly But Surely


The girls had their 8 year well check this past week. Both girls are the picture of health and both girls grew very nicely. Miss Abigail is now a whopping 42 pounds and 47 inches. That puts her in the 3rd percentile for weight and the 5th for height. It doesn't sound like much but it's on the chart! 


Thursday, July 23, 2015

Only Abby...

Only a child with Rhombencephalosynapsis would ask her mother to tape a reenactment of a fall.


This kid kills me. 

Tuesday, June 2, 2015

Update

When I was reading over an e-mail I was composing to update how Abby has been doing to our friends at the University of Washington I had to take a minute, sit back, and think about how far this child has come. This what I had written:

I apologize for the delay in my response. Abby is going amazingly well. Her health has been excellent over the past year. She still has asthma, very serious food allergies and is small in stature but this has been her healthiest year yet! She is academically well above average. She is finished the 2nd grade school year reading above the 5th grade level and on par with 4th grade math. She still participates in OT and PT but will scale back her OT in the coming school year. Her balance steadily improves over time but she periodically experiences balance “setbacks”. We haven’t established whether it’s inner ear fluid, growth or just her RES that causes it. She is participating in track (yes, TRACK!) and doing so much better than we even expected. We thought she would be the slowest on her team and that is not true. She falls occasionally but can run very FAST! She just qualified for our local track and field championship in both a relay event and the long jump. She can long jump over 7 feet, despite her only 45” frame. She is attempting to qualify for the junior olympics in the long jump event. 

Is this the same kid I used to write about? Is this the same girl who we truly thought might never walk or climb or sit on her own? Can this really be the kid that required 5 day a week therapy to ensure she could learn to roll over? 

How can this be??? 

It is amazing. I will never, ever, ever forget how long and hard we all had to work to get her here. The therapy, surgery, doctors visits, exercises, appointments, hours of conversations and planning and on and on and on. It was SO DAMN HARD for all of us. But this, this makes it all worth it. 

video