RS Retrospective

Not sure if any of my old followers are still hanging around. It has been a year and a half since the last post. Not that I haven't had anything to say, just not enough time to say it.

Both girls have started Middle School and have signed up for a variety of different clubs. Grace decided to sign up for Rennaisaince Club, which is a club that basically does kind things for others. Recently, Grace decided to put RS as one of the causes to fundraise for at their annual charity walk. With a little explaining the what and why, so got approval. So she raised some money to benefit the great work that the team at the University of Washington is doing. 

Fast forward a few weeks when Brian decided he is going to do a Polar Bear Plunge to raise money and awareness for RS. As he was putting together the GoFundMe page, he visited this blog to get information and pictures. 

Over the course of the past two days, we have gone on an Abby / Rhombencephalosynapsis history lesson. As we looked back at our older posts both lamenting and celebrating, it is astonishing how far we have come. 

When people hear about Abby's diagnosis now that she is 11, the most common response is "I had no idea she had anything." Considering there was a time when we had no idea if she would have any normalcy, it is quite incredible. 

It's amazing to think what 2019 me would tell 2007 me had she been given the chance. Maybe that will be fodder for an upcoming post. Stay tuned. If you are there. :D 

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. 

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. 

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 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. 

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.

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. 

Second Grade

So far our experience with second grade has been a remarkable difference from first grade. Last year brought behavioral outbursts, trips to the principals office (more than once), fighting with classmates and a downright awful experience for all of us.

Second grade... not one outburst. New friends. Listening to her teacher. Excelling in her academics. Where was this Abby last year??? We could not be more pleased! Today was the girls conference and I got hear how smart and well behaved and sweet she was. Was a difference a year makes!

She is reading at a fifth grade level and her math skills are in the top five percent of the class! We are just praying this continues!

And one more awesome detail. For the first time in her life she was able to WALK THE ENTIRE TIME when we went trick-or-treating as a family. Progress!!!

Posted by Kristen Fescoe

She got her dog!

After a very lousy first experience we have finally been matched with a dog for Abby. 

He is a two year old Golden Lab and his name is Wisdom. 

He is a very sweet dog and a great listener. Abby has been somewhat apprehensive about him but it will take time to bond. 

He adores the kids so he's a keeper. 

Posted by Kristen Fescoe

A time to twirl

For many kids with RS, spinning is a part of their life. They spin when they stand still. They spin as they walk. They spin when they sit on the floor. Like a tiny little top. Abby is one of those children. The girl needs to spin in order to regulate her body (at least that's how I understand her explanations). I don't mind her spinning but we do try to keep it to a minimum at school so she doesn't distract others.

We have tried MANY therapies and strategies to get the spinning under control but have had little success. While I wish this post was written to outline a strategy that worked, it isn't. :D Instead I am happy to say we found a place where she can spin and whirl and turn and twirl until her little heart (and brains) content.

She is the twirliest, most accomplished spinner in the entire ballet class!

Posted by Kristen Fescoe

She's disabled?

As a parent of a child with Rhombecephalosysnapsis I find myself doing one of two things (more often that I would like to admit): 1) explaining why my child is "normal" and just like everyone else or 2) explaining why my child is disabled.

You see, RS is a funny thing. Unlike many other disorders if you look at a person with RS they often look close enough to "normal"  that you wouldn't take notice immediately. There are some visible issues at first glance. The bald patches. The tiny stature. The odd body makeup. The large head. But it isn't grossly different than a typical person.

It often isn't until they take that first big spill or start spinning or flapping that people around you realize there is something different. The frustration is that in my experience half of the people I encounter want to sell me the line of "but she looks so normal". At first I used to take this as a compliment (and from the right person, I still do.) But in some cases it is as if they are accusing you of making up a fictitious disorder. You find yourself explaining the disorder and what goes along with it.

On the other hand I also come across plenty of people who see her big head, tiny body, spinning around, flapping hands, etc. and look at her like she has rabies. To those people I want to scream "She's a normal little girl".

Yes, I do realize how much I am countering myself. And yes, I am talking out of both sides of my mouth. So, you ask, what DO I want? I think what I want is the same as any mom of a child with disabilities. I want people to ask questions (politely), gather information, get informed and then treat her like any other kid. Don't minimize the past six plus years and all of the hard work and time we have put into getting her where she is. Don't treat her like she is an oddity either.

I think all parents of special kids just want a little curiosity and a lot of acceptance.

Posted by Kristen Fescoe

Or not

We got Fulton home and the whole house was abuzz. People were coming and going in the excitement of meeting him. We were surprise how energetic he was. We were told he would be a little more laid back than he turned out to be. But the kids were loving it and we reminded ourselves how big an adjustment this was for him.

We tried to settle into a routine but it was a little rocky. The first day he was up at 4am to go out. He barely had to go but obviously he was an earlier riser than we were. Unfortunately once the girls were up they had a hard time settling back to sleep amidst the excitement. (Companion dogs must sleep in the room of their companion so he was in with the girls.)

The first full day the girls headed off to school. They were sad to leave their new friend but off they went. I had to help with a party at school so my Mom came to sit with doggie and baby. My Mom had no problems with either but did mention that when Jack fell on the dog he snapped at him. No teeth or anything but just something to be aware of.

The next day or so was a bit of a whirwind. With the holiday, a new dog and the kids being off things were nuts. We had expected a super well trained dog and got a much more normal dog than we expected. On day two or three he just about pulled my arm out of socket running after a cat. We expressed our concerns to the organization but they reminded us that it was an adjustment.

We went about our holiday and tried to get the dog as acclimated as possible. I decided to do some early Christmas shopping with my Mom and headed out by myself (I usually have a kid or two with me).  After about ten minutes in a very crowded Target I got a text that read "the dog bit Jack". My mind went into a blur. I couldn't get service to call and I couldn't figure out whether it was a joke or not.  I finally got ahold of Brian and he told me that Jack was sitting beside the dog and leaned over him. The dog snapped at his face and bit right beside his eye. We had to determine if he needed stitches right away. I hurried home and thankfully no stitches.

 Unfortunately that is when I had to give the girls the bad news that the dog could not stay in our house. The next 12 hours were a blur of sobs. After such a long wait the dog had to go back. There is no way a dog that bit my child could live in my house. The people at the organization were very apologetic but how could this happen.

So, here we are. Back on the waiting list with the fear of God about next time. We now have our eyes wide open but don't quite know what to think. We are mostly thankful our boy is okay and the tears have started to dry up. 

It's been a long couple of days...

** I wrote this on our families blog and got some nasty, undeserved comments so I may close the comments section here. People can be so mean sometimes.

Posted by Kristen Fescoe

The dog that wasn't meant to be.

As many of you know years ago we got Abby on the waiting list to be placed with a very special dog.


After two and a half years of the idea of adopting a companion dog for Abby we FINALLY got the call. When I heard the words "we have a dog for you" I was shocked at just how excited I was. I am not a huge dog person (don't burn me for this one), I really never have been. But the thought of having a (well-trained) dog that would help make my girls life easier made it all sound worthwhile.

After several impatient hours I got ahold of our contact and she told me about our match. He was a black lab mix who was two and a half. We "flunked out" of the full service dog program for being too lazy. A dog that was too lazy sounded like a dog that would fit in well around here. After two more days of waiting we got the paperwork in the mail including the "shopping list" of items we needed before the dog could come home. THAT NIGHT we got everything off the list. The next day we called and had a date to pick him up.

 *The girls tried out every dog bed in the store

The excitement in our house was palpable. We had waited so long and spent so much time planning and talking about it that when it finally was happening it seemed surreal. The girls were ecstatic. I can still see their little faces when we told them they were getting a dog.

The day finally came and last week we went to meet Fulton, our dog. It was a long drive but we got there on time and met our new furry friend.



 I haven't seen the girls that happy since we went to Disney World. He was a ginormous 71 lb beast of a dog. The girls were instantly in love. He seemed like a total sweetie.

We got to take him for a walk by ourselves to get to know him better. The weather was miserable and rainy but we went anyway. I had hoped to let the girls walk him but he was a little more skittish on the leash than expected. Brian did most of the walking.



The next hour was spent going over paperwork, his commands, vet records and details. The girls did their best to sit still but they were itching for more doggie time. We finally got to go into the training center and learn the hands on commands. He did well for Brian and I but not quite as well as I had hoped. He also didn't listen to the girls at all. We were told (over and over) that it would be a 3-4 week adjustment period and we would have to be patient.

After a few hours of prep we were on the road with our new family member.

This got longer than expected so let's call it a cliff hanger. The rest of the story tomorrow...

Endocrine... check

We have managed to schedule what will hopefully be that last in this string of appointments. We will be seeing endocrine in early December to have Abby's growth hormones checked. I am guessing nothing will be wrong but who every knows. I am just thankful that what we are looking at is a matter of a medicine rather than a surgery. Two months ago so many scary things were swarming our heads. Surgery. Shunts. Decompression. Pressure. And now... growth hormone.

I feel like the biggest sigh of relief should now be breathed collectively. :D

Phew!

Posted by Kristen Fescoe

Update and News

We met with Abby's ophthalmologist today and the news was very good. He was very satisfied saying that while her optic nerve is large it is NOT swollen or irregular. He still sees anomalies because of her Rhombencephalosynapsis but nothing new.

His only concern was with her overall lack of growth. He seems to feel that a growth hormone deficiency is likely. With midline brain issues pituitary involvement is likely. So we will go back to endo and have her tested to see what's going on.

All in all... I'm taking this as good news!

Posted by Kristen Fescoe

The right girl for the job

I wrote this months ago and somehow forgot to post. SO here it is a little late. ;D

Last week my girl had her bi annual visit with the allergist. You are in addition to neuro, neuro surg, ophthalmology, neuro-ophthal, peds, OT, PT, endocrine, cardio and ENT she also has asthma, eczema, seasonal and severe food allergies to eggs, milk, blueberries, agave and tree nuts. 

She's had a few accidental exposures recently so we figured we'd probably get to avoid skin testing and blood work this visit. Unfortunately we were wrong. The allergist wanted to continue her series of tree nut testing so after telling her he'd probably be needle and prick free... I had to take it back. 

When I expected tears she just smiled. When they pricked her arm over and over she jokingly yelled "oww" and laughed each time. 

The nurse was a captive audience and Abby knew it. As she avoided itching her very irritated arm she looked at her very serious looking doctor and said "Dr. Fielder, you do know what you're doing, right?" She had us all I stitches. 

After I got home I to thinking about how for so many kids this would be traumatic. They told her she would need to start a series of food challenges and she responded with "looking forward it". When they told us she had to be at the hospital by 7:30 she said "yay... I'll get Momma all to myself that early". 

The kid is a dang rock star. It is clear to me in those moments that God knew what he was doing. Most kids would be a puddle on the floor if they had to do one tenth of what she does. But not Abby. She just smiles. Obviously she was born with the perfect disposition to suit her life. 

For that I am incredibly grateful!

Posted by Kristen Fescoe

Alopecia?

One of the more odd hallmarks of Rhombencephalosynapsis is alopecia. Whether male of female, most people with RS have some degree of baldness, typically patches.

I was asked by researchers conducting a study on RS to send pictures of her patches and her ears (kids with RS typically have low set forward slanted ears also) and I thought I would share.

When she was first diagnosed I remember thinking "how awful... on top of everything else my kid is going to have bald patches".

Thankfully there is a lot you can do with a good head of hair. :D

And for those of you following us for a while, yes she is going from blond to red. It definitely suits her firecracker personality. 

Posted by Kristen Fescoe

My sweet, sweet girl

I write so much about how Abby has a knack for kicking ass and taking names. The kid is a freaking enigma 99.9% of the time. People who meet her CANNOT believe that she is a "disabled" child. And in honesty, most of the time, neither can I.

But then there are those few and far between times that break my heart. Like tonight when she had a massive allergic reaction to a food allergy exposure. And after her tiny body wretched out the contents of her stomach and she laid in the tub itching her skinny little body I wanted to either cry or climb into that bathtub fully clothed and comfort her.

Why is life so hard for her? How the hell is she going to be a teenage with all of her "Abbyness"? How is life going to treat her? How the hell can I protect her from it all? I try to remind myself that she is easily 100 times stronger and more resilient than I am. She is a study on toughness. But I am her Mom. I have watched her suffer through therapy, surgery, anesthesia, doctors, braces, glasses, shots, tests and so many other things. I have rubbed her backed and shushed her through so many tears but I had to sit there and watch EVERYTHING be harder for her.

It isn't fair. None of it. Not one damn minute. Thankfully she doesn't even know it. This is her life and this is how it is for her. But for this one tiny little minute I question why it has to be so much harder for her.

I don't know now but I know there has to be a why. I guess we just have to be patient and wait for the answers. I am just incredibly thankful these moments are truly few and far between.

Posted by Kristen Fescoe

Part of being Abby

There are many occasions as a parent of an RS kid where we are "forced" to explain things. Why does she fall so much? Why does she turn her head back and forth? Why is she so small? For the longest time this would send me into a dissertation about RS and what it is. But then Abby got old enough to understand.

At some point it dawned on me that maybe she doesn't want to be a soapbox. Maybe she doesn't want to listen to her mother give the same lecture on her oddly formed brain. I wouldn't. 

So we tried some other things. Shorter explanations. Just saying she has RS and letting people wonder. Saying she has some vague developmental issues and stopping the conversations. And even getting annoyed when people were rude enough to ask. 

But then I realized it was time to take my own advice. Why does she fall? Because its part if being Abby. Why does she roll her head? Because its part of being Abby. 

Funny thing is... It works.

Posted by Kristen Fescoe