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To Those Who Question Why We Chose Genetic Testing for Our Child

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Erin's son smiling.
Erin’s son.

Right before Christmas last year, we finally got our diagnosis for Abram, UBE2A deficiency syndrome. Our path to get an answer seemed arduous, but when it finally arrived, I felt relief. Our genetic counselor told us we were the first case the University of Iowa and the University of Chicago had ever seen. We were told they had no further information to go by, aside from a case study on Online Mendalian Inheritance in Man (OMIM). We were told to “Google” our son’s gene mutation and there we would find the case study she was referencing online. It was then our genetic counselor informed us they would now be learning from our son.

Despite not knowing more and being unable to do more than what we were already doing, I was pleased to have a name to call our son’s condition. I am sharing our journey with genetics so the people who don’t have to face these issues personally, can hopefully understand the reasoning behind the need and drive for genetic testing. Parents in situations similar to ours are often believed to be wanting a “label” for their children or that one parent wants to “blame” the other for their “bad genetics.” Many people don’t understand why we would want our children to be “guinea pigs” or why we would want to agree to medical research programs. I think somewhere in their heads they flash to some terrible 1980’s sci-fi program where our children are caged while being “poked and prodded.” This is simply not so.

So, why do people want an “answer” with genetic testing? For our family, Abram had a complex set of what seemed to be never-ending diagnoses, with no discernible cause. Yet, all the while, our neurologist felt what he had going on was the cause of some other underlying condition. He was tested for Fragile X syndrome, Noonan syndrome, and William syndrome, and all came back normal. It wasn’t until his seizures worsened and the pharmaceutical drugs made him spiral into decline, that we pushed for further genetic testing, because there are types of epilepsy known not to react well to certain anti-epileptic drugs. If your child had devastating and life-threatening seizures or a rare set of circumstances, wouldn’t you want to know how to best help them be well?

Genetic testing has nothing to do with “wanting a label” or placing blame on one parent or the other – it is about doing what is best for your child now. It’s about knowing what prepare for in the future and paving the way for the families diagnosed after your child.

Plus, with any luck, it will allow you to connect with other families whose children deal with the same set of similar circumstances. However, it is important for parents of typical children to understand that when it comes to health care in our country, having a “label” is important for medical purposes.

For our son, his diagnoses and “labels” rightfully qualify him for waiver services and have enabled him to have access to various therapies like physical and occupational therapy, as well as speech, feeding assistance and so much more. For medically complex kids, “labels” help them not only with services and therapies, but they help them throughout their education and it guarantees their right to learn just like everyone else’s children. So yes, families want a “label,” but not for the reasons some people seem to think.

For our family, the “official” name of what to call the proverbial “it” that was affecting our son, changed our lives. I spent hours coding this very website so if any other parent googled UBE2A, they would find us. There were literally less than a dozen people in the world with this gene deficiency and even fewer known to have the same gene mutation as our son. Even more rare was the fact that Abram’s gene mutation was “de novo” meaning that his UBE2A gene spontaneously mutated. If we were to have more children, we would have less than a 1 percent chance at having another Abram. A less than 1 percent chance! How cool and special is that? The best things in life really do happen by chance and I wouldn’t change our lives one bit if we had it to live over.

What transpired after diagnosis has made my heart grow. Two months after coding this website, I was contacted by the medical researcher who had studied and written the very first case study on UBE2A. Seeing the name “Nascimento” in my inbox felt like I had been contacted by a rockstar. I was elated. We have become friends. She has been able to explain to me how this gene impacts him and how all his diagnoses are the symptoms of the UBE2A deficiency syndrome. She made me cry with joy when she said that by sharing our journey, we will one day be able to help other people and with hope, help them better understand UBE2A syndrome. Now, the very same Rafaella Nascimento, who researched this gene and gave us a name to call our son’s condition, gets to know Abram. She gets to share in our grief and our triumphs. We get to learn together. How lucky are we that we live in a world so connected by the Internet? What would have felt lonely, is now filled with more people who care.

Genetic testing gave us our answer. It isn’t the answer that people may imagine. In fact, it wasn’t the answer that we imagined. There isn’t a cure and very little is known about this condition. However, I have been extremely lucky in connecting with two other families whose boys share similar issues with the UBE2A gene. Our boys have similar features, health concerns and delays. Meeting these wonderful parents online and getting to see the faces of my son’s “brothers” is truly the best thing ever. I get to share our life journey with people who understand where we have been and what our struggles are.

Thanks to Rafaella who reached out to me all the way from Brazil, I am waiting to hear back from the family I first read about in the case study who share the same mutation. I’m just elated to find people who have a similar journey, whom I hope to meet in real life someday. All of this wonderful stuff is because we got our “label.” Sometimes “answers” don’t come in the way we think they will. Sometimes our “answers” are in the people we find on our journey to obtain them. 

Due to the fact that there is very little known about this syndrome, we have agreed to take part in medical research programs at three of our nation’s best hospitals. These world-renowned hospitals will be following Abram’s journey for at least the next seven years. They will note his multiple health concerns, diagnoses, symptoms and any other issue that may arise with this new and most likely under-diagnosed UBE2A deficiency syndrome. This means the fact that we use cannabis oil (CBD) to treat Abram’s seizures may play an important part in the future treatment in children with UBE2A who have seizures as well. Abram’s sensory processing disorder also drastically improved with the use of cannabis oil, and if that fact can give a family some hope, then we have done our part.

If everything Abram has gone through can help another family with this diagnosis, that is what matters the most. The world of special needs and medically complex children is another world entirely. Within it are people who are filled with love, hope and humility. People who want to celebrate with you, cry with you and cheer for your children every step of the way.

​So please, stop shaming parents who want an answer for their children’s medical complexities. Searching for an answer isn’t about labels or finding blame. It’s all about love and doing what is best for our little ones. Genetic testing is so much more about finding what is right than what is “wrong.”

Follow this journey on Our Abram Mayhem

Originally published: August 16, 2016
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