“A diagnosis defines a lot of things, but it doesn’t define love.” – Lexi Behrndt

Dear Parent who has ever experienced heartbreak when you found out about your child’s diagnosis:

I know firsthand what it’s like to watch your child go through the unimaginable and experience health setbacks along the way. My son Noah has been through so much at such a young age. At only 4 years old, he’s already experienced four surgeries, a number of procedures, a series of therapy sessions and doctors visits over the years, frequent ER visits, and even lengthy hospital stays (which are always the worst). Life for us has not been easy and at times parenting Noah has had its fair share of obstacles and challenges. But despite all of this, I always try to find the light at the end of our tunnel. And most importantly, I embrace my journey with Noah fearlessly and with hope every step of the way because I strongly believe that God chose me to do it for reasons much bigger than what I had ever expected.

Although I thought that I was going to birth this seemingly perfect child that was going to be strong and healthy just like me, life gave me something much different but yet, so much better. The reason why I feel this way is because Noah’s situation and diagnosis has inspired me to find purpose in my life and become an advocate to help promote unity and positive change for others. I know that getting to this step is so much easier said than done and sometimes when you’re battling something you can’t always find positivity in your situation, let alone help others facing similar situations.

But trust me, it does get better and heartbreak is only temporary. In many cases, I find that parents tend to hurt more than their children do. And that’s because we want to do everything that we can to protect them at all times. Meanwhile, our little heroes are still enjoying their lives and are incredibly happy despite the challenges that they have been through. So if our children are doing fine, why do we have so much trouble accepting their diagnosis and moving forward?

When I first found out:

When I first learned of Noah’s diagnosis I was in shock. It felt like my entire heart froze and my world just somehow stopped. The clock has never ticked so slow in my entire life. Before I had received Noah’s results, I was told by his geneticist that she was going to give me a call once they came in. However, I was pretty convinced that they weren’t going to find anything given the fact that when Noah was tested for other syndromes such as Down Syndrome, Tay Sachs Disease, and other medical conditions, his results always came back negative. But one fall day in October while I was at work, Noah’s geneticist gave me a call.  She started off to explain that his results finally came back and that when geneticists can’t pin point a set diagnosis, they have to rule out all of the other possibilities and potential diagnoses based on what makes the most sense given the patient’s DNA sequence and genetic makeup. Then, once they do that, they can determine a diagnosis that is as close to the patient’s genetic history as possible (this is a bit hard to explain but hopefully you understand).

Then she told me that my son Noah was diagnosed with Rubinstein Taybi Syndrome (RTS)- a very rare genetic chromosome disorder that occurs in an estimated 1 out of 125,000-300,000 births. After getting off the phone with his geneticist and hearing the results, I just stood there crying and feeling lost. I didn’t know exactly where to begin, what to do next, what appropriate next steps to take, or really how to handle all of it. But I knew that I felt like I had failed my son as a mom and I felt like all of this was somehow my fault. What did my baby do to deserve this? I got so lost in finding out about his diagnosis that I didn’t even really give myself a chance to process it all and consider the positives. Then my emotions kicked in and I found myself standing there crying and trying to explain this to my close friends and family members, while completely being at a loss for words. I was really concerned about Noah’s future and what all of this would mean for our family.

There were a million questions going through my head that day. Like, “What will Noah’s future look like?” “Will Noah be dependent upon me for the rest of his life?” “Will he ever move out of the house, go to college, get married, and have children of his own?” “Will he be able to have a career and be treated like any other living and capable citizen?” And most importantly, “Will Noah be happy and enjoy his life?” I didn’t know what the future was going to look like for him but I knew that I was scared and frustrated by the fact that this was out of my control.

It took me a few days to really process all of this, but I finally got to a better place in my own time and when I felt ready to accept it. So I moved forward and I made up my mind to become an advocate for special needs children and their families. I no longer wanted to sit around feeling sorry for Noah or for myself for that matter. I knew that I had to stand up and make a change. I knew that it was my calling to use my son’s testimony as a vehicle to help inspire positive change and make a difference for other children just like him. I knew that I had to stand up for something bigger and use my strength to help promote inspiration and encouragement for other families just like my own.

In my own time, I learned that crying, being in denial, and remaining in the sad, emotional state that I was in was never going to help me or allow me to fulfill my life’s purpose. So I turned my bitter lemons into the sweetest lemonade and ever since then I haven’t looked back. Today, I no longer view Noah’s diagnosis as a downfall for us or necessarily a situation that’s the end of the world for our family. Instead it’s more like a journey that we have managed to get through together and that has later became our biggest blessing in disguise. When I sit back and watch videos from over the years and look at old photos of Noah it makes me so happy because these moments continue to remind me of the amazing work that I have done as a mom despite my son’s diagnosis. Noah is truly a brave, strong, one-of-a-kind, and exceptional little boy. He has taught me not to focus so much on the bad things, but to celebrate the good things and to just enjoy the journey along the way.

Whenever Noah meets his milestones, progresses, learns new things, and does things that I didn’t even know he knew how to do, I immediately get so happy! It’s so heartwarming to watch all of his progress because it reminds me that his diagnosis is not so bad after all. His diagnosis may be a part of his genetic makeup and medical history, but it does not define him or limit his abilities to continue to move forward. My brave boy is capable of doing each and everything that he wants to do and as his mother I will always continue to fight for him every step of the way whether his test results come back positive or negative. He is my little hero and no diagnosis will ever take away from that. Oh and there’s great news by the way! A couple of weeks after finding out about Noah’s diagnosis, his geneticist called me back again stating that because Noah is the first person documented in history to have the rare genetic chromosome that he has, Lurie Children’s Hospital wanted to publish his story in a medical journey and present his case at a national medical conference to help other medical professionals and families. And of course I said yes! So, as you can see, life has a funny way of doing the things that we least expect and sometimes when we think we’ve gotten bad news, we’ve actually in fact walked into our greatest blessings.

For my parents facing challenges with their child’s health and experiencing anything close to what I went through, always know that you are not alone and that you can get through this. We are our children’s biggest advocates and as long as we keep fighting for them, they will keep fighting too! Stay strong and continue to love your children unconditionally and with everything that you have inside of you. ♥

Best Wishes to you and your family,

Genesis A. Emery




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