Monday, June 5, 2017

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. 

Monday, May 29, 2017

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

Friday, February 10, 2017

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



  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


       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


  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.  

Monday, January 30, 2017

Our Favorite Sensory Diet Ingredients

Around age 2 both girls were diagnosed with Sensory Processing Dysfunction. Abby has always been a sensory seeker of the highest proportion. We always thought that as time went on it might be reduced, but that has not been the case. On the other hand, Grace tended to be more of a sensory avoider. As she has gotten older she does MUCH better with texture and even crazes it to some degree. 

What has always astonished me is how much better both girls function when we pay attention to their sensory diet needs. I thought I would put together a list of some of the items that are must haves on our sensory diet list. 

The Gymnic Movin' Sit Inflatable Seat: This little powerhouse has been sat upon by almost every hynie in the house. I must admit on particularly hyper days even I can be found swaying to and from to keep my attention level up. Abby get a lot of input from the dimples, but Grace and I enjoy the ability to move while you sit. Costs just over $30 so a great buy. 

 

Z-Vibe: Although the Z vibe finally died in our house after 6 years of use, it is a great tool for kids whose sensory needs involve the mouth. For us, that was both girls. Abby used to stuff her mouth and her OT suggested that we use this to give her input before she ate. It did a great job at minimizing stuffing and creating feeding awareness. Grace avoided certain textures so we tried this before she ate things she usually avoided. It helped us get her to eat yogurt and smoothies, but she still won't eat anything with lumps like oatmeal. 


 
Chewy Necklaces: At nine years old I still often find Abby wearing one of her many chewy necklaces. They beat the heck out of fingernails or sleeves for kids who look for input by chewing.  


Chewy Tubes: In that same vain we have an entire bin (I kid you not, a bin) of various chewy tubes that have been collected over the years. Abby's absolute favorite are the P's and Q's, probably because I can attach them to a necklace.  They are inexperience and can be thrown in the dishwasher to keep clean. 


Raising A Sensory Smart Child: This book was just about heaven-sent to a Mom who had never heard of SPD before the day both of her kids were diagnosed with it. There is a book and a cool guide to activities, both of which I loved and used frequently. I highly recommend you invest in both!


Weighted Blankets: Abby has always been a terrible sleeper. When her OT suggested a weighted blanket it almost sounded like a form of child abuse. Little did I know this well known sensory secret is a must for sensory kids who struggle to sleep. Both girls used them from about 3 until 6. Abby continued to use hers until she outgrew it last year. That being said I am considering buying a larger one for her to use now. 


Please excuse the shameless Amazon plug here, but that is truly where we ordered all of our sensory products. There are some great companies out there selling awesome products but when buying for two kids with two different kinds of needs Amazon fit our budget. 

Monday, January 23, 2017

The Questions You Really Want to Ask?


Raising a child with a rare condition like rhombencephalosynapsis is something entirely different than most parenting experiences. If your child is born with a disease that has been studied and most doctors have heard of you have channels to gather information. When your child is among a group of people that number in the hundreds at best your channels are much narrower. I have been lucky enough to use the internet to meet some wonderful people and gather plenty of information. When I look back at my early days of gathering information what strikes me most are the questions that I really wanted to ask but didn't dare. I have compiled a list of some of those questions and I am doing my best to answer them with a few years of Rhombencephalosynapsis parenting under my belt. Here goes:

Will my child look normal?

Will anyone want to marry my son/daughter?

How am I going to afford all of these appointments and medical crap?

How the hell am I going to do this?

How will this effect my other children?

What do I do when the doctor caring for my kid has never heard of her diagnosis?

How long will my child live?

Will She be able to have children?

Will she make friends?

How will my extended family handle my child?

Will the kids at school think my kid is weird?

Will we need things like a wheelchair?

Why are her eyes crossed?

If she is different, will she grow up and move out or will she always need me?

What do I do if I have questions no one can answer?

Am I alone in this?

Will it effect my marriage?

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.