A Unique Perspective

Most of the members of the RS/RES group that I am a part of are parents of young children with Rhombencephalosynapsis. This is probably because we are not sure what the future holds for our children so we all are in search of answers (and camaraderie!). Recently one of our group members, Nichole, an ADULT with RS shared her story with us. She was kind enough to give Heidi and I permission to post it. Without further ado:

To my RES family,

I was diagnosed with RES by an MRI only 2 years ago following memory problems (forgetting to pick up my children from school, leaving hotplates on, forgetting regular phone numbers), and some nerve/sensory issues in my left shoulder (A sun burn feeling -  Parasthesia). I have very little Vermis on my cerebella and no midline. I have a slightly enlarged ventricle as well. I took my MRI to my neurologist who replied “You should be thankful you don’t have something serious like MS. Come back in a year and we will see how much your memory has declined”.

I have been looking for another neurologist to see ever since. I have not found any near me who know anything about RES. I am worried about my memory decline, and would love someone to tell me if I can do anything.

I asked the neurologist what is RES, and he said it didn’t really need addressing, it wasn’t affecting my health, and that I’m ok. Everything I know is from scientific journals (I have a science degree which has helped immeasurably), I have trawled websites and I have learnt so much from you all in such a short time….my RES family.

At the time of my memory/nerve issues, I spoke to a doctor for the first time about my weird brain stuff. Prior to that it had all seemed unconnected.

Sometimes I write with numbers in the middle of my words. I use 4 and f interchangeably all the time, however I have no trouble reading, never have. I can’t write a phone number down right the first time…ever… I need to check it 2 or three times.

I can’t tell left and right despite being a dancer all my life and a dance teacher while at uni. I would teach by pointing my fingers one way or the other.

I get lost ALL the time. In my local shopping centre, in my home suburb, on the way home from my gym across town. I get disoriented a lot. Even in small places, like a public toilet, I find it hard to find the exit. I need directions to get almost anywhere, and directions to get home as well. This is perhaps the most distressing part of my RES. I grew up in a small town, and my parents would always comment on how I never remembered where people lived, or where my dad worked. They thought I was just not really observant.

I am super clumsy. I have loads of scars on my legs and hands, I am constantly bruised. I have had a few big falls, especially as a kid and chipped my pelvis. Fake tan does wonders for bruised legs. My feet and my eyes are turned in. As a kid they called my eye condition congenital esotropia. The term is incorrect now, as I now know I don’t have “normal neurobiology” one of the diagnostic features. I also wore orthotics, which I hated, and I don’t think helped all that much. I have had 4 lots of corrective eye surgery all pre RES diagnosis. My eyes just eventually turn back in, especially if I am tired. It is considered elective plastic surgery here, so each time I have had to wait years, and have paid a lot for the ophthalmologist.

I have worn glasses since I was a baby. Only 4 years ago I was given a pair with a Prism, which drags my eye out. They have been great! I can read more smoothly now. I don’t see out of both eyes at once. As a kid I wore a patch/tape on my glasses, which from what I gather did not a lot at all.

Thus I have huge issues with depth perception. It took me 7 years to master my driver’s license test (all pre RES) and I had no idea why I was so bad at driving.

I can walk fine, though not in a straight line. I have a bit of a funny gait, and my head does have some forward backward movement when I walk, but no shaking side to side. I have trouble with proprioception. I feel like I don’t know which way is up sometimes. I always put my hand out in front of me when I walk through doorways, and I have trouble negotiating stairs.

Some of my nerves (ulnar/radial) in my hands innervate the wrong muscles. It hasn’t affected function, but I’m pretty sure it’s a weird RES thing.

I have some sensory processing issues. I hate lots of noise. I can’t filter noise in crowds. This manifests as Anxiety sometimes.

I have a blood clotting issue as well. I had a bilateral pulmonary embolis at age 18. I have been on and off anticoagulant treatment ever since. I have no idea if this is RES related, but they have never adequately diagnosed why my blood does it. It does not fit with other recognisable blood conditions. This is a lot of trouble when I travel. I get Deep Vein Thrombosis, so have to wear the leggings, carry injectible medicine with me when I’m more than 2 hours from home and when I fly, and my travel insurance won’t cover me.

Because I wasn’t good at sports at school, I studied hard. I did very well at school and went to a selective high school. I had a rebellious adolescence, left school, had a baby, then settled and went to university. I did very well at uni, and studied Science. I fell into psychology (by failing chemistry twice, despite giving it my all) and I now work as a clinical practice leader across a statewide specialist youth mental health/drug and alcohol service.

I married while I was studying. I have 2 amazing, healthy children. My daughter Halle looks exactly like me. She has all the same features as me. No signs of RES. My son is completely different to me. No signs of RES.

Things that helped…

My parents never knew I had RES, so my dad made me play heaps and heaps of sports. I think he thought I would learn coordination. It didn’t work, but it made me much more resilient. I was however, a great swimmer. I liked that it drowned out the sound.

All of my de-stressing strategies involve quiet time. I love the bath, the shower with my head under, doors closed. If I’m home alone I turn the TV off. If I listen to something, I listen to only one thing at a time. Sensory loading helps. Using smells and tactile sensations helps with my anxiety.

I do a class at the gym called “Body Balance”, it is a yoga, Tai Chi, Pilates mix to music. It has a whole section on balance. It has helped a lot.

The prisms in my glasses.

Finding someone who loves me, just as I am

I hope this helps someone, even a little.

Nichole (33 years old)

From Australia

I cannot personally thank Nichole enough for sharing this with us! 

Happy Mothers day

This is a poem that was edited by a member of our RS group (Ashlee Lyons Kuhl) and it was perfect for our Mothers Day post. 

It can happen during utero, and you may not find out until after birth. 
The news that makes you tremble, the news that shakes the earth.

"We see a distinct problem ma'am, there's an issue with the brain.
We're not sure your child's chances ma'am, the condition, we normally don’t maintain"

You think "Why me? Why us?" As you try to choke back tears.
Your world crashing around you, while you're consumed by your worst fears.

That sharp pain in your chest. The heart break, like a knife.
Watching your precious child, fight so hard for their life.

The first few months are brutal, You walk around like a zombie.
Endlessly wondering "Will my baby get to call me mommy?"

"Don't worry, it will get better" Is something you can't stand to hear.
It feels like everything is getting worse! The end, it feels so near.

Then suddenly the days seem to get a little brighter.
As you stare with loving eyes at your precious little fighter.

You've never been so proud of one single little soul.
Gradually reaching milestones and accomplishing their goals.

A RS moms journey is one that never ends.
Filled with support and compassion of other RS mom friends.

We all love a little deeper and care a little more.
Reminding ourselves everyday of how much we can be thankful for.

We were given this life for a reason and at times it can get rough.
But we use our kids as examples of how to remain tough.

For us, strength is not a choice, it's a lifestyle we have to lead.
It's what keeps us going, and it's what our RS child needs!

Loss

I haven't written much. It's because lately I just haven't found the right words. The RS community has very recently lost two of it's babies. Their names are Adisyn and Peyton Marie. They were beautiful little girls with families who loved and adored them and now they are in heaven. There are no words for when someone loses a child. Nothing I can say will help their parents find their way through the grief and sadness any faster. It just breaks my heart knowing that two families, with children like Abby, don't have their babies to hold.

Say a prayer (or ten) for them and their families. While they are at peace right now their families are not.

May God bless these families.

Was it SPD or him taking control?

Written by Heidi:

Ethan has been great with therapy. His PT and OT's over the years have introduced many fun and interesting homework assignment and devices for his use.  I have to say we have taken our homework seriously and done everything they have shared with us. We didn't want to look back and say why didn't we try harder for him. My type A personality wouldn't allow that. So with that being said he has excelled in his therapy goals and we continue to set new ones and Ethan has pretty much been an easy going partner in this journey. Until....

A couple of PT sessions ago his PT had decided to change his under garmet therapy pressure suit called a TheraTog which he has worn for 3 years to a different suit called a Spio Vest. He keeps outgrowing the Theratog and it has a few pieces that seem to come undone or loose throughout the day. As he has become older and more active this seems to have more issues at school. 

Prior to her trying the sample suit on he hadn't worn his theratog to school due to school function, pictures, etc. and surprisingly his behaviour in school had been excellent. Being "smart old Ethan" he chalked it up to not needing his 'behaviour suit' anymore. He threw a fit at therapy even running into a closet and trying to lock himself into it. This isn't typical Ethan reaction, he will usually just tell you matter of fact he's not doing it. He also started throwing issues in regards his shoe inserts.
So after the session I was able to talk to him. He was telling me suit was too tight and it's so uncomfortable and itchy and so many other what I classify as SPD. So we came up with an agreement to give the suit a break possibly til next school year depending on how things go since his behaviour prior to not wearing the suit was decreasing in school and then was fantastic for a week and half when he didn't wear it which is usually the complete opposite!  But shoe insets we decided would be a must.
Later I heard him telling one of the neighbor boys notice anything different about me, no special suit!

So I wonder, did he really show some SPD issues or did he work his magic to not wear it because kids have been noticing it....

Let's Talk OT

Written by Heidi:

From the time Ethan was 3 months old I asked and asked and asked his neurologist for an OT referral. His first sign that OT might be necessary where his fists. He clenched them .... ALL the time. Even during sleep.  I believe that the doctors were so thrilled that his cerebellum was growing to the right size (it hadn't been before 3 months old on ultrasound).  At this point we hadn't had an MRI yet, so we were unaware of his RS. Because of the "normal size" they just wanted to throw him into the "normal" category.  By 6 months it was becoming obvious this wasn't going to happen.

So finally, at 8 months we had our initial evaluation. And so it began. Therapy became our life. Everywhere I looked I saw therapy. Play became therapy. Diaper changes became therapy. We brushed him, yes I said brushed, from head to toe with those infant hairbrush they give you at the hospital. This was to stimulate his neurons. We wanted to get them going and activated (we were told this should happen before age 2). We had bean boxes, ( I believe every kid needs one....what fun!), we had putty to hide buttons and coins...great travel therapy!

And so our days of therapy continue. OT has been loads of fun with Therapeutic Listening, seek and find puzzles, a push pin letter thing I made up and so on. But it has paid off! His writing is so close to his peers.  All this being said tying his shoes is a constant battle...but that is every kid...right!!??

Rare Disease Awareness Day

We have all seen the myriad of ads for various awareness days and ribbons and fundraisers for diseases. But what happens when no one has heard of the disease you or your child is diagnosed with? 

Abby has something called Rhombencephalosynpasis. This (and I am oversimplifying a little) means that where her cerebellum should be two separate lobes it is instead fused together with no vermis. She also has hydrocephalus, enlarged 3rd and 4th ventricles and partial agenesis (fusing) of her corpus callosum. 

When I was pregnant with her the doctors told us that she would be very unlikely to survive pregnancy and birth and that if she did the chances of her walking, talking or thinking about be minimal. We decided to take our chances and have some hope. I'm glad we did. 

Despite the doctors being SO WRONG she still struggles. With everything from balance, to fine motor skills to her social interactions with peers... she struggles. 

When your child has a diagnosis that people can understand they are (sometimes) sympathetic. People are willing to raise money and wear ribbons and do walk a thons. When they cannot pronounce the condition your child has you get a lot of blank stares and stupid questions. That part is hard. There is no where to send a check so that future generations of children with RS can have it a little better. There is very little research being conducted. VERY few doctors have a clue what it is. 

So today is Rare Disease Day. It's a day for families like ours to display our ribbons. I'm not personally trying to raise money, just a little awareness. (Although you can donate to the Rare Disease Cause HERE.) My daughter doesn't have cancer or downs syndrome or cystic fibrosis but she deserves as much awareness as any "known" disorder. She deserves to have people try to understand what she deals with. 

Today is her day. 

We did find just the right one in the end...

Written by Heidi:
So...  I'm out shopping with Ethan the other day and I'm looking at new vases. Well, this is a dangerous aisle and of course he wants to help, so he reaches across to pick what he believes is the best one and my heart immediately falls to my stomach. I see it! I see the whole thing happen in an instant,  seconds before it does! Before the words can even form on my lips the domino effect is in motion.  There is nothing I can do to stop it! But to my surprise he turns around and presents the prized glass vase for show. 

I breathe...gently remove the vase from his fingers and move him to the side AWAY from all the glass. "Yes Ethan it's very pretty, but not really what I'm looking for." He pouts and precedes to find himself a seat on a decorative tin, which collapses, resulting in him falling, rolling into tall tin vases which DO domino each other, loudly!  Ethan jumping up! Struggling to put the tin back together and saying, " I so didn't know it would do that!"

Guilt

Heidi nailed it with her last post. Parenting a child with RS creates a situation filled with fear, guilt, anxiety and downright paranoia. All parents worry. We are pre-programmed to do so. Even the most laid back individual suddenly becomes a worry wort when their child takes its first breath. Compound this innate hardwiring with a special needs child and you have a recipe for disaster.

Throughout the past almost six years our lives have been filled with a myriad of ups and downs. We have our huge victories. First steps after years of PT. Climbing the stairs to the top of the slide with no help. Being able to climb into the van unassisted. But we also have our "moments". The times that we pray no one is looking. When she can't stop flapping or spinning in the store and no matter how hard I try I can't stifle the urge to tell her "STOP SPINNING AND FLAPPING!!!!" The times that she plants her elbow square in her baby brothers tummy and he squeals with pain. Although I know she can't control her lack of balance I can't help but remind her to "BE CAREFUL!!!"

It's not easy. We know that our children will fall, flap, spin, talk too loud, be inappropriate with people, lead with their head or elbow or boney knee. They will take too long to buckle their seat belt. They will spill food all over the floor at EVERY. SINGLE. MEAL. They will require numerous calls from their teacher, the school nurse and/or the principal. We know this. We are prepared for this. But no amount of preparation is going to make it easy.

Days I lose my patience...then the guilt sits in

Written by Heidi:

There are days when being a parent to an RS child is very frustrating mentally and physically and the patience is thin or not even within reach. And yes, I know this goes for all parenting! Yet the frustrations of being an RS parent are magnified. There are days that I feel like my body can't take another bump from him.

I know he can't help it, which makes me feel EVEN more guilty. Even as he tries to get up on the couch to sit next time me I am banged a good 5 to 6 times. Some of the time we are talking head-to-head contact (if I happened to be looking down) as he does everything head first. I remember when he first started crawling it was as if he threw his head forward and the rest would follow. Well that still holds true as he gets himself on the couch, in a car or even into bed. Sometimes, when he is standing next to me at the couch and if I dare to have a cup of coffee sitting on the end table I am constant guard of the drink being knocked over as he wobbles to and fro while carrying on a conversation.

Now of course I wouldn't change a thing about his milestones. I prayed for the day he would crawl. We mastered getting onto a couch and into a car and love that he can stand and carry on a conversation, even if its in constant motion and twirling. And at times, the guilty times, I wish he could stand without his world titling on him. I wish he could give a high five without missing and twirling around and sometimes falling.

But sometimes I do find myself yelling and saying watch out, don't bang into that! And then realize He Can't Help That! Why did I just say that? Ugh! Guilty mom!

We all have guilty mom moments. Did I really just do that and did I really just say that? Guess I have to say, yep, I did...and try to do a bit better...it's what I tell them to do...

Lost in translation

For all of our readers abroad I wanted to direct you to the Translation Tab in the right sidebar. I have added a feature that allows you to translate each post into a variety of languages. I can't really speak to the accuracy of it but hopefully it will help RS families who speak other languages gather information!