They took the plunge!

The first annual Fescoe Family Polar Bear Plunge for RES Warriors was a huge success.

You can check out the Facebook Live video HERE.


It was FREEZING cold at home on the day of the plunge, but when we stepped out of the car at the beach it felt ten degrees colder.










Full disclosure I wondered if maybe it wasn't the smartest idea. But Brian, Will and Grace along with our dear friends Micah and Ross braved their way towards the water. There was some milling around and nerves but they it was time.














They counted down and off they went. There was plenty of cheering, laughter and love.

What a day!

We raised $1,325 for our friends at the University of Washington who are doing great research on Rhombencephalosynapsis.

Kicking RS's butt

Another Abby post:

It's Abby again. This post is going to be more about kicking RS's butt. There are many ways medically but mentally is also important. My friend has something similar and we sometimes talk about, what will we do when people make fun of us. Well, they don't know that even though we are not the same as others we are kicking our disability's butt. You need to know, you will have bad balance and you will need to roll your head. If you've done it for 9 3/4's years you forget about rolling your head. But balance can be hard because you're just the way you are, but that doesn't mean you aren't doing good. For me, getting across the balance beam without falling is awesome and it also mean I am doing well. Most kids would be pulling there hair out if they couldn't make it across a balance beam but for me it's really great. 

But also, you need determination. You need to be yourself no matter what. If it means rolling your head and having not the best balance then it's completely fine just remember that you are kicking RS's butt. 

Jo's Take

I asked in a pervious post if anyone felt compelled to share their story and I was so excited to see that Jo and Harry wanted to share. Here is what Jo wrote:

Hi All! 

My name is Joanne and I have a 13 year old son with Rhombencephalosynapsis. Because my story is 13 years old I would be more than happy to share my experiences and let you all know what we all have in common. When I first started looking for answers back then, there was nothing, it wasn't even referred to as RS, we here in Australia have a very different term for that. What I did find scared the hell out of me and I just stopped researching and focused on Harry. I am off to see a Brain Lecture with a specialist in brain structure and genetic malformations, and this prompted me to to google the old 22 letter word that took me 3 years to learn to spell.

To set the current picture for you......


We live in Brisbane Australia, and Harrison attends High School in the year he is supposed to be in. His current workable diagnosis is ASD-Austism Spectrum Disorder- PDD-NOS- Pervasive Developmental Disorder Not otherwise Specified, and throw in a smattering of ADHD.


As you know if you are too rare you need to fit somewhere so here we are. What I have learned over the years is they are all just a little bit different from each other. A lot of symptoms and defects or as I call them wobbly parts are very similar.


Early dogged intervention got my boy to where he is today.


Doctors are not all equal, as Special needs mum's, dad's and carer's we are our child's specialists. We know them best.


So the short of it is, he had his first MRI at nearly 2 after I persisted, because his 

Specialists Pediatrician told me boys develop slower than girls!!! His Neurologist said, he will never walk or talk and don't expect him to win any races. We don't know how he will live, he is going to need around the clock care. For those of you out there who are new to this, we are constantly proving these "professionals" wrong. 

At 13 he has achieved teaching himself to read at the age of 4, he starting walking and speaking at 3! 

• He started school on the day he was meant to, and has achieved grades higher than the stars.
• He completed his level 5 Piano studies all with honors at the ripe old age of 10, most kids get there by 18.He writes code in his spare time and loves reading.
• He swims, and as he hypotonic has just achieved 25 m, he even surprised himself. He runs the school cross country every year, Harry style.
• He has lots of friends, mostly nerds but the girls love him. He funny and witty and looks at life from the other side around the corner and teachers love it. 

Harry is the eldest of three boys, the other two are considered "normal" sorry neurotypical. Sometimes I wonder!

Generally he is a great kid, and after 13 years and probably while he is in school he is light on maintenance. He list of struggles are long, but that is for another night. He is in my eyes always going to need help. I will just give you guys the shiny bits tonight, but in saying that the ugly bits give you the victories. 


As you all know just when we get comfortable they go and change the goal posts, sleep is very overrated.

Harry will love to answer any questions if you have some.
Always the annoying optimist.
Jo and Harry xx

Food Challenge - By Abby

Abby had to write an "expert" piece at school and she chose to describe the process of going to a food challenge. She's been to four (I think, maybe five) and is a veritable expert! 

Do you know what an allergy food challenge is? In this piece you will find out what the food challenge is and how it works

First and Food

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  Starting a food  challenge is the most important part because it starts you’re dietary future. First of all, you have to go into the waiting room before you check in. If a you’re child is doing the food challenge he or she will have to get a bracelet that has his or her name and age and number thing, because you’re a patient there. After you get seated the nurse has to check the child up to make sure is not sick because if you were after you ate the food the nurses would think it was the food  but it wasn’t. They check your blood pressure, oxygen and make sure there are no rashes on the patient.

Then, they give you a little bit of food to start only like half a bowl or piece. It starts out with a tiny piece because it you’re first time eating it so you wanna start small.   

Again and More

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       After you've eaten a little you wait for 20 minutes before eating a bigger amount.  You have to wait 20 minutes because the food needs time to situate and time to make sure that it doesn’t disagree. If it does at any point in the challenge you will be sent home and can try again in a year if you’d like to. Usually, if you go through the whole challenge it's about 5-8 doses and 20  minutes in between.

After the Challenge

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  After you’ve finished the  food challenge you still have a while. You have 1 hour till you can eat and 2 ½ hours till you can go home.  You’re going to get truly bored so hopefully you brought toys. Also, there is a play area with a bunch of toys to play with. After a while, you have to have your final check-up. They do the exact same thing as they did in the beginning.

Indeed, this food challenge is long and yummy and something you’ll never forget. It’s really exciting to know that you might outgrow your food allergy or have. If it turns out that you haven’t  outgrown your food allergy, next year you can try again.  

What Exactly is Rhombencephalosynapsis?

Over the past few years this blog has taken on many different roles. Sometimes it is informational, and other times funny. We have shed a tear or two here and have hopefully provided some good information for new Rhombencephalosynapsis families. I am going to head back to the informational side for a few posts and try to break down the diagnosis in laymens terms, but without cutting the important medical information. When Abby was first diagnosed I was so completely overwhelmed by all of the medical jargon but little did I know that it was critical that I get familiar with this information. Over the past two years I have served as the expert in the room on RS even when five doctors are present.

What is Rhombencephalosynapsis?

Rhombencephalosynapsis is a brain malformation where the cerebellum is fused at the midline, rather  than being a separated structure. The severity of the diagnosis is like that of a curve. There are people living with Rhombencephalosynapsis who have almost no symptoms of the diagnosis. There are others who suffer from very severe cases of RS, often paired with other genetic and medical anomalies. These families may live with wheelchairs, feeding tubes and resporators as a part of their day-to-day routine.

In the most recently published study on Rhombencephalosynapsis, Dr. Doherty and his staff at the University of Washington noted that individuals outcome can be correlated with the degree of malformation in the brain. Meaning children that have a fused cerebellum but have a vermis will have better outcomes than children who have no vermis, other structural abnormalities and additional genetic issues. This being said Abby was born with RS, hydrocephalus, enlarged 3rd and 4th ventricles, a chiari malformation and partial agenesis of the corpus callosum. When they told us she would never walk or talk that seemed a very real possibility. However, kids with RS are also born with an amazing ability to overcome.  

How is Rhombencephalosynapsis Diagnosed?

An increasing number of children are receiving their diagnosis in utero. In some cases when the standard anatomy ultrasound is conducted, the malformation can be detected. In many cases (like ours) the medical professionals picked up on a non-specific issue with midline areas of the brain, but no specific diagnosis. In cases such as these, an MRI will detect the malformation. Abby underwent a CT scan and 1.5 tesla MRI before doctors at CHOP moved on to a higher resolution 3 tesla MRI, which finally uncovered her specific diagnosis. There are people in the RS community who were diagnosed much later in life. 

What are the major implications of Rhombencephalosynapsis?

Delayed Milestones:

Most children with Rhombencephalosynapsis miss milestones from the very beginning of life. They are slow to hold up their head, roll over, sit up, crawl and walk. It is not unusual for RS kids to be delayed in walking for up to 2-3 years. Abby had a particularly hard time learning to roll over. She passed other developmental milestones before she could roll over. Most kids will eventually meet their milestones. 

Impaired Fine Motor Skills:

One of the most globally experienced symptoms of Rhombencephalosynapsis is weak fine motor skills. Things like using zippers, typing shoes, holding a pencil, writing and other hand-based skills are well behind similarly age peers. It is very helpful for a family to seek the services of an occupational therapist early to help mediate these issues. 

Impaired Gross Motor Skills:

Like fine motor delays, kids with Rhombencephalosynapsis tend to also experience delays and difficulty in their gross motor skills. These would be things as basic as walking, balancing, running, standing on one foot and playing sports. In this area, a physical therapist can help strengthen muscles, develop tone and improve balance. 

Impaired Balance:

Often leading to falls and bumps is impaired balance. Kids with Rhombencephalosynapsis will often topple over, fall, trip or lose their balance. As a parent watching your child fall more than the average toddler can be painful. Many Rhombencephalosynapsis families choose to use walkers, helmets and other devices to help keep kids safe. We installed "Care Rails" on our steps to make sure maneuvering stairs was a safe activity for Abby. Along with impaired balance, many kids with Rhombencephalosynapsis lack what is known as protective reflexes. This would be something like raising your hands to break a fall instinctively. 

Low Muscle Tone:

A lack of good muscle tone is also very common in cases of Rhombencephalosynapsis. Working with a physical therapist can help improve muscle mass, which will help mitigate the symptoms of low muscle tone. 

Strabismus:

A great number of children with Rhombencephalosynapsis experience the symptoms of strabismus, which is crossing of the eyes. This diagnosis is generally made by an ophthalmologist. The most common treatments include patching, glasses and surgery. We chose to have Abby eyes surgically repaired and her results were very good. 

Sensory System Issues:

Many parents of kids with Rhombencephalosynapsis report that they experience a range of sensory system disruption. Abby was diagnosed with Sensory Processing Disorder very early in life. She then worked with an occupational therapist to develop what is referred to as a "sensory diet." What this means is that when a child has sensory information enter their system (what they see, smell, hear, feel and taste) they have a difficult time organizing this information and making good use of it. 

Social and Behavioral Issues:

Kids with Rhombencephalosynapsis commonly struggle with some form of social or behavioral difficulty. Some kids experience severe issues, while others are very minimal. In Abby's case she often lacks the filter to know not to say things. She can be insensitive, lack empathy and come across as difficult. She struggles in school to follow the rules on some occasions. As she is maturing, we are seeing this less and less. The height of her behavioral troubles was between 3 and 4 years of age.

Additional Signs and Symptoms:

Alopecia, My goal is to write a series of articles that covers each of these topics in greater detail. While I can only write from our experiences and perspective I welcome fellow RS families to give input through comments and I will happily add that information.

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.

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.

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.

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!

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! 

Only Abby...

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

This kid kills me. 

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. 

A Unique Guest Post

I Am hoping to incorporate a new "series" on this blog which will include blog posts from individuals living with RS. If you or someone you know would like to contribute please let me know via the contact information in the right column. The first blog post in the "Life With Rhombencephalosynapsis" Series comes from my girl, Abby.


Written By Abigail Fescoe:

Heres the thing I have RS. People think I'm different that way. But I'm not. Here's a symptom of RS, I roll my head a whole lot. People like classmates, friends in and out of school, ask why do you roll your head? I've told some people why and from all that I learned, if I do people just stop asking and I can be myself. Another symptom is that balance is hard. I can't do activities that need really good balance, like the balance beam. Thats why I have to take PT. But I have taken PT since preschool all the way till now [which I'm in 2nd grade] and probably for a while longer. I also look at other people and what they're doing, and I get better and better. Here's a little story of my bad balance; me a few years ago me and my twin sister Grace were all riled up and it was dinnertime. At dinner we were laughing and jiggling around , and accidentally I slipped off the bench. Grace tried to grab me. But she did not. I fell on my tooth. It hurt VERY badly. Daddy [brian fescoe] picked me up. Grace was really sad and sorry when daddy figured out I broke my tooth. Later my mom [kristen fescoe] took me to surgerey. it was not fun in surgery.

 

This all written by a seven year old girl. It is a remind of both the struggles kids with RS face as well as their incredible power to overcome obstacles. Abby enjoyed writing this so much I think more will come from her. I do hope that her words help some of the newer families to the RS circle. These kids can overcome so much. They're miraculous!

Posted by Kristen Fescoe, March 2015