One of a Kind

“Oh my gosh, he’s so cute! Those big cheeks and blue eyes! Just adorable! But what’s wrong with him?” 

A complete stranger said that to me while I was checking out in the grocery line. There were too many witnesses and video cameras for me to risk going to jail for assault, so I politely said, “he has a pretty rare genetic disorder.” I was trying to figure out what else to say. I was shocked, appalled, trying to keep my emotions in check, get the hell outta there at the same time, while also thinking “ear muffs Gav!” She must have felt the uncomfortable tension building so she kept babbling about her niece that was married to some guy that had a sister that had a child with CP so she felt like it was ok for her to ask that question. I just smiled and nodded, said, “Have a nice day.” Once I got our groceries unloaded and Gavin situated, I had what I like to call as “Parking Lot Moments”. It usually entails me crying or screaming or getting really angry and cursing like a sailor.

Lesson #1: It is never ok to ask that question. I understand that I’m speaking in absolutes, but hear me out. Let’s play out the scenario again without Gavin there. “Oh my gosh, you’re hair is so cute! I just love the color and the cut compliments your face so well! But what’s your blood pressure?” Doesn’t that sound ridiculous! Of course, it does, because you rarely ask a complete stranger questions about their medical history. I say rarely because as a nurse and in certain appropriate medical situations, I’ve asked questions similar to that. Keywords there are “appropriate” and “medical”. People wear medical bracelets for a reason because they want people to know how to help them in case of an emergency, not because it can or should be an ice breaker in the grocery line.

Another reason to never ask that question (and this may sound obvious) is because my child can hear you. When you use the word “wrong”, you imply that there is something not correct, or unsuitable, or undesirable, or mistaken. And while this is a common use of the term and even accepted language in our culture, when said about a child, in front of a child, you are sending a message. He could understand that as he has done something or worse yet, IS something that is not correct. His medical diagnosis is no fault of his own. There is absolutely nothing wrong with him.

I’m not saying do not engage in conversation with me or my son. That is the last thing I want. We know that we are like round squares. We don’t fit in any specific category because Gavin is so rare. Not even within the special needs community. Being a round square is hard enough on its own. Every time I think I’ve figured out how to control this shape, I lose my grip and end up looking like a really bad juggler. It’s just this simple: treat us just like you would want to be treated. The golden rule still applies, my friends.

In a world where you can be anything, be kind.

– Jennifer Dukes Lee

Lesson #2: I choose to believe that this situation stems from a somewhat naive and genuine curiosity about what makes Gavin Gavin. People want to know his story. Which is completely understandable. One of my aunt’s described him with a sparkling character. She’s absolutely right.  His character is sparkling and contagious. 

So we’re gonna go ahead and get this out of the way right now. I will not be sharing the complete list of medical diagnosis that my son has. The only place that should be found is in his medical chart. More importantly, he does not have the ability to consent to what I’m sharing. When sharing anything on social media, the first question I ask myself is “how will 18-year-old Gavin feel about this?”. I want this blog to leave a legacy for him, for him to know that we helped others through our story. I will share certain diagnosis or symptoms in order to gain a better understanding and provide a window into our lives.

This is where things get pretty complex, so hang with me.  Gavin was born with two rare genetic disorders: Congenital Myasthenia Syndrome (CMS) and FLNA (Filamin A, a protein coding gene) Related Disorders. Most genetic disorders are like buckets filled with different symptoms. A person may experience all or some of the symptoms. Within these buckets may be subcategories. Each sub-category has distinct features that the other subcategories don’t have. There may be treatment in one subcategory but not in another. Most genetic disorders can be detected by genetic testing. After the first few levels of genetic testing on Gavin came back inconclusive, as a family, we went through Whole Exome Sequencing or WES. The WES determines the order of DNA building blocks in an individual’s genetic code. It is one of the most advanced ways to study genetics available right now and is thought to be the most efficient method of identifying possible disease-causing mutations. It can tell you if you are a carrier of something even though you don’t present with it.  The laboratory did Gavin’s testing first and then compared it to mine and Greg’s.  Gavin’s testing came back with the gene for hearing loss and FLNA related disorder. When compared to us, it showed that I am a carrier for hearing loss, which is how Gavin got the hearing loss gene. The FLNA related disorder does not show up on either mine or Greg’s testing. This is called “de novo”, which means that the gene is present for the first time. CMS did not show up on the WES – this is why I said that most genetic disorders can be detected. CMS was confirmed through EMG (electromyography) and nerve conduction study. Gavin’s version of CMS is the first of it’s kind and would not be picked up on the WES. CMS is referred to as a snowflake syndrome, no two are ever alike. The genetic counselor told us that there is a less than 0.1% chance that another person like Gavin exists in the world. We can confidently say that Gavin truly is one of a kind.

So whenever someone asks me questions about Gavin’s medical story, it is very hard to answer those questions with straight forward easy answers. I am thankful that we have a diagnosis or two to give us an idea of how to best support, Gavin. However, many times we are just treating the symptoms that we see. The challenges that we face come from the fact that even the most amazing team of medical professionals don’t always have the answers for something so rare. This also means that we get to write the rule book. We get to think outside the box. We get to fight this battle with whatever ammunition we choose. We get to support and provide for Gavin in the best way we see fit.

If I could go back to that grocery store interaction, I would say to her, “Nothing. There is nothing wrong with my son. He truly is one of a kind.” He is playing with his deck largely stacked against him. But he is playing. And working. And fighting. His sparkling personality, coupled with his stubborn determination, has brought him much further than expected. He has been beating odds since before we met. I am certain that he will continue to face anything that comes his way with that same grit. We can all learn something from a child that fights for every inch, with a smile on his face, kindness in his heart, and a booty shaking to the beat of his favorite song.

#TRUTH: Be kind always.