Wednesday, January 18, 2017

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.

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.