Friday, May 17, 2013

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! 

Posted by Kristen Fescoe


  1. Nichole, you are absolutely amazing! Despite the lack of intervention and any type of remedial assistance, you persevered. You and your supportive parents managed simply using common sense. What you were good at you kept and what didn't work, you discarded. In no way do I mean to simplify your labors, struggles and successes. Having raised a child with learning disabilities ( in the 70's ), I am well aware of the hardships you overcame. All I can say is what remarkable people you and you parents are. I suppose we can now add your husband also. Apparently he fell in love with the powerful woman you are. I wish you continued success and happiness. Thank you so much for sharing. G'day ! ( did I say it right ?) Terry Evans

  2. I second that. I was so in awe when I read your story Nichole. We have spent so much time, money, effort, etc. in therapy and intervention. The fact that you are rocking life, marriage and mommyhood blows my mind and gives me more hope than I can tell you!!!

  3. It was so great to read about RES from an adult perspective. Thank you.

    Could you direct us to the forum where others share their stories. Thank you.
    Jean Ann

    1. It's a FB group. You can find it by searching Rhombencephalosynapsis on FB. :D

    2. Thank you Kristen, That's why I can't find anyone. I'm not on FB any more but my DIL is. I'll pass this info on to her.

      Jean Ann

    3. I'm not really either. The ONLY thing I do on FB is print coupons and keep up with the RS group. :D

  4. Aunt Terry Evans I Love you. Thanks for always reading our blog and all you do to support all of us in the Bickley Family ! You rock! Love (one of the Princesses) your niece, Heidi

  5. Hats off to you Princess Heidi and your " manly man" husband, Chris. Together you make the best damn team a RES kid could ask for. Ethan is one lucky boy ( and Travis too ). I know sometimes a day can be 24 hrs. too long but but you two persevere. Keep up the good work. Ethan can only go forward ! Love you charming hunks of testosterone and that splash of femininity.

  6. Please forgive me, Princess. I do get carried away but I mean every word ! Love you guys !

  7. Awe, you make a mom feel good! Thanks! I'm thinking that needs to be our family title." 3 Hunks of Testosterone and a Splash of Femininity!". Heidi

  8. Thank you Terry, Kristen and Jean. I am very lucky to have my amazing life and to have had supportive parents.
    I am grateful every day.
    I hope this helps a little RES person somewhere. That would make me happy beyond words.

    1. I think it will. I sent this link to my entire family so they can get a sense of how awesome Abby is going to do as an adult. You are giving us all a ton of hope!!!

  9. WOW! I am in tears as I sit here reading this. I came across this blog 3 years ago and found comfort in reading this. But here I am 3 years later and just now came across this particular post. I am 31 and have RES. There's not a symptom that has been described that I do not live with and of course many many more unwritten. Its a never ending battle trying to understand this diagnosis. Some days are harder to put one foot in front of the other. I have NEVER known anybody to have the diagnosis of RES. I have NEVER known anybody who can understand and relate to what I daily live with. For a moment I had to gasp for air as it was difficult to breath for a second while trying to read this blog. She is my answered prayer. This blog. I may not know you but I know you!