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Friday, May 22, 2015

Around and Into the Unknown: A Book Review

Today, I have a little something special to share. My good friend and Feeding Tube Awareness Foundation colleague, Hillary Savoie, has recently written a short story called Around and Into the Unknown. Hillary is maman extraordinaire to Esmé, founder of The Cute Syndrome (a blog and a medical research fundraising organization), Feeding Tube Awareness Foundation staff member, and holds a PhD. She is an incredible woman and I thought it would be fun to have her share a little more about herself, her daughter, and her book.



- First, can you tell me a little bit about Esmé and The Cute Syndrome?
My daughter Esmé was born with a number of challenges--some of which, like her low tone and poor swallowing reflexes, were present at birth. Others developed as she grew, for example, she began having seizures when she was around 9 months old. Esmé is now almost 4 1/2. She has severe developmental delays, epilepsy, failure to thrive, and a movement disorder. She is tube-fed, non-verbal, and non-ambulatory. She is also adorable super goofy and very clever! 

The Cute Syndrome is something that my friend Dana came up with early on when we were told Esmé likely had a genetic syndrome of some sort. Dana said, "Yeah, Esmé has a syndrome, she has the Cute Syndrome!" And since Esmé has remained, essentially, undiagnosed all this time, the name sort of stuck as short hand for what Esmé "had." I always liked the name because syndrome names can feel so scary and clinical, I loved that we had a positive spin on categorizing Esmé's disorder in some way with one of her most defining features: her cuteness!

I started blogging about life with Esmé in 2012 when her seizures were totally out of control and I had taken a leave from my doctorate program and teaching position in order to stay home with her. At the time we were spending most of our time in bed dealing with seizure clusters, vomiting, and lethargy. Naturally, I called the blog The Cute Syndrome. A year and a half later, when I started the foundation to fund medical research for rare genetic epilepsies, like PCDH19 and SCN8A, and related disorders, the blog lent its name to the foundation.


- Tell me about your story "Around and Into the Unknown," what is it about?

Around and Into the Unknown is about the journey we've been on since we first had the indication that Esmé might have some sort of medical or genetic differences--at our 20 week ultrasound. For us the process has been extremely difficult, and even after almost five years of testing, we still don't really know what Esmé "has." Her genetics in this respect are unclear. We now know that she has two mutations in genes associated with infantile epilepsy and many of her other symptoms--PCDH19 Epilepsy and SCN8A Epilepsy--but there is some confusion about whether these genetic "should" mutations cause symptoms in her or not. So, we are working with researchers to dig deeper into her genes to see what else might be causing her symptoms.

More than that, though, I think the story is about trying to understand what it means to have a genetic mutation. We all have mutations in our genes--these lead to all kinds of human variation, like green eyes, increased susceptibility to certain diseases, behavioral differences. Culturally we tend to see genetic differences like Esmé's as something else all together--when really they represent an end of a spectrum of genetics that we are all on. Yes, in Esmé's case her genetics cause changes that are obviously severe, but the mutations are not fundamentally all that different than what is hiding in all of our DNA.

- You published this story as part of a travel series - can you tell us how that came to be?

It was actually due to an accident! My friend Channing Rodman sent me a link to a call for the travel series, 6 of 1 Travel, at my publisher Ponies + Horses Books, but she'd intended to send the link to their memoir series, 6 of 1 Memoir, call instead. When I saw the travel series link I asked her if she had a particular story in mind for me to write. Not realizing why I was confused, she said that yes, you wanted me to write a story about "how genetic testing is not the linear route to an answer we think it is." It sounded like she was talking about a journey of sorts--traveling into Esmé's genes. By the time we'd realized the confusion about the link, the theme was already set! The story just came together so nicely all through an accident!

Interestingly, I later pitched a second story to Ponies + Horses for their 6 of 1 Memoir, which they also accepted. So, my second short book with them, Whoosh, will be out later this summer. It will be available for pre-order in the next week or so. 


- Why did you want to write this story?

I really want people to understand that genetics is still an emerging science. While we know so much more than we did even a few years ago, we are still really far from finding answers for many people who are struggling with disorders associated with genes that have yet to be "discovered" in humans, or disorders that are caused by multiple genes interacting, or disorders that are altered by both genetic and environmental factors. It seems like people really struggle to understand how we can have a child who remains undiagnosed despite our best efforts...and I wanted to help explain how that can be. I also wanted to write something about the emotional impact of these kinds of quests. This is something that I think a lot of clinicians who work with kids like Esmé don't understand--it is a hard journey. Finding answers is hard. Not finding answers is hard...and it is all difficult in ways that they may not anticipate.


- How's Esme doing? 

Esmé is doing really well at the moment. She is making some amazing gains. Last year she started being able to pull herself up to stand with support. She still needs support to stand by she is exploring the edges of her balance in ways that make me think she will walk some day. We have also recently learned that she can read a number of familiar words. Since she is currently non-verbal, we are attempting to use this skill to better communicate with her, which is really very exciting!


- What are you working on now? 

At the moment I am completing edits on the next book "Whoosh" which will be coming out later this summer. Whoosh is about when Esmé experienced cardiac and respiratory arrest as an infant. It is a story I have been working on writing in some form or another in the four years since it happened. I think I've only just now been ready to write it. I am working on another similar length piece about Esmé's heart function, and I am about to dive into a piece about her communication abilities. Also, I am writing on my blog The Cute Syndrome about once a week...I see it as a place to test out ideas for longer pieces.

- What are your coping techniques for dealing with the stress of the unknowns you face with Esmé?
For me the strategy has always been about openness and honesty about my feelings through writing. It is one of the reasons I started blogging about Esmé...I wanted my friends and family to know what I was thinking about, what I was feeling. It seems like people often have the impression that people going through life with medically fragile/complex children are just somehow stronger than other people or that our children's lives are somehow pitiable--so it seemed to me to be so important to let people know all sides of the story--at least my version of it. 

I have also found tremendous help coping through service. Starting the Cute Syndrome Foundation to fund medical research for the rare disorders that we suspect may be part of Esmé's genetic picture helped me feel more in control of her fate--even if none of the research we've helped fund will benefit her directly, it pushes the science around rare epilepsies forward--and will help many children like her. Of course not everyone will have the time or inclination to take on a project like that...but other service is possible as well. I have had a stint volunteering with the Feeding Tube Awareness Foundation and been active in various groups to offer helpful advice to people in similar situations. 

Finally, I must say how much it has meant to me to find other parents, like you Brandis, online...people who I may never meet, but who are deeply involved in our lives. What is interesting is that I always thought that I would find my support network through being diagnosed. But for me that has not been the case--I have found people online whose children are very different from mine--Raya being one such child--but who share a kind of philosophy of life with a complex kid and absurd sense of humor that synchs with my own life. That is where I have found what I needed most to get through.--

And if that wasn't cool enough, here's a cool little video to help introduce Hillary and Esmé:

Aren't they awesome?! 
One of the greatest blessings that has come out of all we've been through with Raya is the association with other moms who are navigating a similar life. There is just something special about being able to have a conversation with someone else who is familiar with all of the medical lingo and understands the frustrations and joys of life with a medically complex child. Hillary's story is a raw, unapologetically real account of the process her family went through to seek out a diagnosis for her beautiful daughter, Esmé. At times as I was reading it, I couldn't help but laugh at how well Hillary described the exact thoughts I have had as we've gone through a similar process with Raya. This story is a great read for anyone who has ever been through the process of genetic testing, has not yet started the process of genetic testing but will be, and really just anybody who has a complex child in his or her life. If you want to better understand what it's like, Hillary will explain it to you! (Fair warning, if you are easily offended by the "f" word, you might have to close your eyes a few times but let's be real, sometimes the process of finding a diagnosis brings out the swear words in all of us.) I loved Around and Into the Unknown (available for purchase on Amazon) and I can't wait to see what Hillary comes out with next!

*This post contains affiliate links.

3 comments:

  1. She wrote that awesome piece on blended diet that The Mighty reposted, too, didn't she? Loved that article!

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    Replies
    1. Hi Kallie, yes, that was my piece too! So glad you liked it :) I am working on a longer form of that one as we speak!

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    2. I look forward to it! My son is also a tubie on a blended diet. :) Thanks for your reply!

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