The Fifth Child

Just a few short weeks ago, I heard the words that I didn't expect to hear: "We have a diagnosis for Ezra..."

A few days before that day, I received an email from our UDN genetic counselor, informing me that they wanted to meet "to discuss some results that they got back from Ezra's testing and next steps." There was so much to read into that sentence. After mulling it over (aka, dissecting it, and over analyzing it over and over and over again), Eric and I decided that I would go with Ezra and he would go to work as usual and we would Facetime him at the appointment. Because of our previous experiences with genetic testing all coming back normal, Eric and I came to the conclusion that this appointment wouldn't be any different. We didn't want to get our hopes up. She had mentioned "next steps", so we figured they would suggest further testing. Needless to say, we were cautious and not very optimistic about this meeting.

So on that Wednesday, I met with Ezra's UDN genetic counselor and geneticist. When Ezra and I got settled into the room, and after the typical formalities of how Ezra was doing, she explained to me the reason why they wanted to see us so quickly. "We have a DIAGNOSIS for Ezra". I was wiping Ezra's mouth when she said those words and I paused. I turned to her and said, "I'm sorry...what did you say??". We made eye contact and she smiled, and then repeated herself, "we have a diagnosis for Ezra.". I felt my breath get caught in my throat. My chin started to quiver as tears started to fill my eyes. I started to smile awkwardly with the joy of hearing those words. Words that I didn't expect to hear today let alone at all.

Our genetic counselor smiled knowingly. She immediately said, "I couldn't wait to tell you and I'm so happy for you all, I know it's what you've been waiting for". We both quickly caught ourselves and realized that we still had to call Eric. She stepped out of the room as I called him on Facetime. When he answered, I quickly blurted out, "We have a diagnosis!". Eric's expression was priceless. One of surprise and confusion. "Wait, what??" he asked. "Yes!! We have a diagnosis for Ezra!" I said laughing as I wiped the tears away like a crazy woman. I could see Eric was just as overwhelmed as I was.

For nearly an hour the geneticist and the genetic counselor patiently explained everything to us and answered our questions over and over again and repeated information when we asked. They explained to us that Ezra is now the fifth known person with this gene variant. We knew Ezra was unique, but not like one of five, kind of unique. We were also informed that the fourth individual with the same gene variant as Ezra, was also diagnosed through the UDN at their Baylor location in Texas. We learned that she is a little girl who shares the same symptoms as Ezra with the exception that she is not experiencing seizures. We were asked if we would like to share our contact information with them. The UDN understands the lonely road that families endure when searching for a diagnosis. They are aware of the extra struggles that we have advocating for our child when we are still trying to understand what is going on with them. They understand the need to connect with others going through like experiences. They want to help bridge the gap when they can. It isn't often that they get to do that, but on this day they were able to. I immediately answered, "yes!" when they asked.

The very next day, I received an email from Ezra's genetic counselor. She wanted to check in with us as we were bombarded with information and to see if we had any more questions as we started to process it all. She also had the name and number of the Mother of the little girl in Texas. I can't express how excited I was for her contact information. I had both her cell phone number and her email. For the next couple of days I debated on what route I should make contact, email or text message. You'd think I was asking this woman out on a date for the amount of time I spent trying to figure out what to say and how to say it. So I finally gathered myself, and sent a short text message to her. I understood the needs of Ezra and knew not to expect an instant reply back. Two days later during one of Ezra's specialist appointments at Duke, I received a reply. And then another and another. My phone was blowing up with texts! And with each vibrating notification that I heard, I was getting more and more excited because I knew she was engaging me and providing me with information. I was eager to read the messages but made myself wait until we got home.

That night as I read through the texts, I found out that this Mom was in contact with the Mother of the Third individual! She immediately asked if we could start a group text. I was an emphatic "YES!". So over the next couple of hours, staying up way later than I should have, the three of us Moms shared pictures of our beautiful children and asked if either of them did this or that.

My text to the Moms. I was deliriously happy!!

Instant support from them. Bonded by our children. 

This diagnosis has been two years and ten months in the making for us. While there are undoubtedly many families out there who have been struggling and waiting far longer than us for a diagnosis of their own or for their loved one. We understand their frustration.

There came a point where I wondered if a diagnosis was even possible. Our hopes for one kept dwindling and our frustration would climb with every test. Everything had always come back within normal limits. I remember having thoughts that a diagnosis wouldn't really change anything anyways. Ezra would still need therapies: Physical, occupational, speech, feeding and vision. He would still need to see pediatric specialists: Neurology, neuro-ophthalmology, genetics, dermatology, otolaryngology and developmental pediatrics. But guess what? IT DOES MAKE A DIFFERENCE!! 

Because the moment they told us of the diagnosis, I felt it. Everything changed. There was a huge SHIFT. Our hearts and soul suddenly became recharged. Supercharged even! There is a renewed feeling that I can honestly say that I hadn't known before with Ezra's journey. We had two weeks of ignorant bliss when Ezra was born before things started to slowly unfold and we started to notice things. We then started to swim in an ocean of unknowns. Each specialist we were sent to would want their own set of tests which would just make us ask more questions. We didn't know what direction to go. Our ocean was so vast and was becoming murky. We knew what was in it but we couldn't make any sense of it. 

But this diagnosis, makes a difference. Yes, he is "ultra-rare" as Zara loves to say when she refers to her LOL dolls. He is one of five known individuals and not much is known about this variant, but we are no longer swimming in an big ocean, we are now being guided down a river where we can now start to narrow down our questions and can start looking at a specific gene and how it works. Don't get me wrong, there are still questions, more even!! But we now have the opportunity to concentrate our efforts and learn more about what Ezra has to offer. 

And so this new chapter is beginning for our family. With recharged hearts and a renewed purpose, we are on a mission. 

For our son, Ezra.

Ezra still trying to figure out his gait trainer.