Ask Gaby: Episode 1

We believe all girls and women with Rett have vibrant minds, but the disorder robs them of the ability to express themselves.  One young woman, Gaby Valner, has been very fortunate to have retained more skills than most.  With tremendous effort, she is able to type her thoughts and ideas. Gaby uses facilitated communication with slight touch to the elbow. Her writing offers a poignant look into the intelligence our girls can have.  Thank you, Gaby, for sharing your perspective and for representing the voices of so many. – RSRT 

Hi, I’m Gaby and I have Rett Syndrome, or actually the MECP2 gene mutation. I am incredibly fortunate to have learned the skill of typing, one letter at a time, in order to communicate. Over the years people have urged me to write a book, but I really have preferred to stay out of the spotlight. Until now. I’ve realized that I found purpose in my writing when I was diagnosed and became a member of the Rett community – a voice among the voiceless. One Rett parent asked, “does it hurt having Rett Syndrome?” Luckily for me, I am physically in good health. But I will say that it can be incredibly emotionally painful as I am sure many of you know. By answering some of your questions each month, I hope I can ease some of the hurt and frustration caused by Rett… I’ve started with the following three questions and hope you and your girls and a few special boys find them helpful.

Your advocate and friend,

Gaby



Hi Gaby, Thank you for this opportunity. What is the hardest part of having rett syndrome for you? What could your parents/extended family/friends do to make this easier for you? – Kirsty Sale 

 

Personally, the hardest part of having Rett for me is the inability to communicate easily. It has been the root cause of so much anxiety, frustration, and misunderstanding. It is infuriating at times to be mistaken for not listening, or for being disabled cognitively simply because I cannot respond, or if I do it is a remedial yes or no answer. I have been incredibly fortunate that my family and others around me have nearly always assumed my intelligence; whenever I meet someone new, that quality instantly makes the biggest difference to me.

I also am extremely fortunate to have some verbal language, but this too can be limiting and confusing. There are countless times I have felt embarrassed to be scripting about some babyish Disney topic when it really has nothing to do with what I actually am thinking. In this case, I wish I had been encouraged to age up my interests sooner, but my family was unaware because I was only able to ask for what was familiar to me. They also didn’t realize how unreliable my speech could  be – even saying “yes” when I meant “no” at times, thanks to apraxia – but now I ask them to always confirm my speech by allowing me to point to options on a white board. It is also helpful to distinguish meaningful attempts to initiate conversation, versus impulsive sensory scripting (we use the choices “impulse” / “communication” on a board or card).

I guess all in all: assume intelligence, but don’t always assume the body and brain are cooperating with one another!
 


We often feel as though we don’t give Charlie enough time to process, and make decisions for her too quickly. Is there anything you wish your parents had known when you were younger that might have helped?  – Fiona Russo 

 

I am quite impressed with your insightful observation! I can one hundred percent relate to this. Like Charlie, I was and am lucky to have parents who realized that I need extra time sometimes when responding to questions or making choices. I do have some speech but due to my apraxia, it is not always reliable when choosing from even two different options; I have a strong tendency to simply repeat the last word or phrase that I heard, when it may not match the words I actually want to say. As you can imagine, and likely have experienced, this situation can lead to misunderstanding and frustration for everyone.

What helps me is using a visual like a white board to point to a choice or confirm a verbal response. My aide always says she watches my eyes to make sure I am looking where I point as well, because sometimes I may point without looking at all of the choices first.

I believe if you can work on expanding the choices given to kids with Rett, they may feel more satisfied; one thing we lack is independent control of our own lives, so providing us with opportunities to make our own decisions is hugely appreciated.
 


Are your emotions ‘apraxic’? That is, does your outward emotion usually match how you’re feeling (smiley/happy, laughing/amused, crying/sad etc.)? – Fiona Russo 

 

I have never thought to describe emotions as apraxic but that is a good way to describe it at times. Sometimes I might have an outburst of uncontrollable laughter that is really a release of tension coming from stress or being nervous about something. In those times it can be frustrating to have my emotions misread although I understand it is also confusing to the people around me.

I think those who know me well can read my face immediately when I become upset or frustrated; they have told me more than once that I do not have a poker face! When I experience negative emotions I would say the outward expression does reflect my general feeling – but the feeling is usually more complex than I can communicate in the moment. I also do get chatty and laugh easily when I am relaxed or happy, so that is also accurate most of the time. It is mostly just the sensory release of tension in the form of laughing fits that might be considered apraxic, for me.

If you are curious about your child, I wonder if you could ask in a yes or no question if the expressed emotion matches the inner feeling; even if it’s difficult to answer sometimes, it’s comforting just to know we are recognized as emotionally complex and not always taken for face value. 


That is all for this episode! We were not able to get to every question but will try our best, please continue to submit any questions that you’d like to ask her in the comments section below for the next episode in this series.