We have been doing testing on Myron since June of 2017. On one of our first visits Myron’s neurologist explained to us that his issues were stars in a constellation. He believed Myron’s problems all had one origin. So, he set out to find that source.
Myron did an array of CBCs, metabolic tests, a chromosomal microarray, Fragile X draw, an epilepsy gene panel, an MRI, multiple EEGs, a copper test for Wilson’s disease, a urine test for Neuroblastoma, and finally, a Whole Exome Sequencing.
As we went through all this testing, everything that could explain his symptoms came up negative or inconclusive.
I am glazing over the months and months of these testing, but it really was a difficult and frustrating journey of finding no answers. All the doctors had come to the conclusion that his problems have a genetic origin, but we weren’t sure what that was. For me, the not knowing what Myron’s prognosis would be and what tomorrow held was the hardest part.
We had no real answers...until our Whole Exome Sequencing came back.
I got a phone call on February 25. It was a Monday morning. I had just woken up from an emotional weekend. February was a particularly tough month for us with Myron. The weekend prior, I had really been processing the endurance I needed to press on with hope.
My phone rang and I saw the number of the Children’s Hospital. My heart stops every time I see that number. I answered knowing what was going to be discussed. We had been waiting for four months for our Whole Exome Sequencing results to come back. It was our last shot at getting answers. I had spent many hours praying that they would find something that would put an end to all this searching.
One of our neurologists was on the other line. He got right into it. He told me our Whole Exome Sequencing result came back with a positive pathogenic finding.
My heart stopped. I had no clue what gene he was going to say or what that would mean for Myron and our family, but those were the words I had been waiting to hear.
He told me to get a piece of paper and write down N...U…S...1. He said Myron has a gene mutation on the gene NUS1.
The doctor was brief and did not want to go into detail over the phone. He instructed me to do some research and we would discuss everything in person in a couple days. He wanted me to gather all my questions and we could have one long conversation about what this means for Myron.
I hung up and cried tears of terror and relief. We had been waiting for an answer, and it was here.
This was such a strange and satisfying feeling.
So, as the doctor recommended, I took to Google.
Once I pressed enter on that search bar, I couldn’t read fast enough. I scanned the pages for NUS1 gene mutation information. The information was very, very scarce. After some sorting through, I found that only a handful of people have NUS1 gene mutations relevant to Myron’s condition. In fact, only 3 are recorded in the published research so far. I read through the only publication. And saw the keywords that sounded just like Myron, tremor, myoclonic seizures in the first years of life, intractable epilepsy, ASD, motor delay, severe speech and language disorder… It all sounded like Myron!
It was so gratifying to see a list of symptoms that truly lined up with his clinical presentation.
One similarity they all had in addition to the features similar to Myron’s, was a diagnosis of intellectual disability. They ranged from mild to severe. The research specifically stated that the kids had a diagnosis of global developmental delay which turned into a diagnosis of intellectual disability as they grew older.
When we saw the doctor on Thursday he informed us that the mutation did not come from Derek and I. It was a de novo(a new) mutation that happened most likely at conception. He said that unfortunately, if Myron is able to have kids, he has a 50% chance of passing it on to his children.
We talked about how gene mutations work and how this one is so rare. We talked about research opportunities and helping us get in contact with the families in the research.
We discussed how this confirmed the doctors suspicions that this will be a long journey for Myron and that we won't wake up one day to find this all disappeared.
We also talked about the term Mental Retardation.
If you look up medical conditions related to NUS1 gene mutations in the NIH database, this is how the disorder is worded.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
I will be very honest and tell you right now that during my googling, I stopped for a long time and stared at the words MENTAL RETARDATION.
First of all, I had no idea people were allowed to use that word. I thought the R word was only used as a slang term out of cruelty and ignorance. But after I calmed down and spoke with the doctor he explained to me that Mental Retardation is the older, scientific word for intellectual disability. Since society degraded the term mental retardation into an insult, the more acceptable term is now intellectual disability.
Mental Retardation is not something to be feared nor is it a sentence of hopelessness for Myron. Myron is one of so few and these findings do not necessarily mean he will for sure have intellectual disability. Prognosis may be similar, but it may not. We will work as hard as we always have to make sure he reaches his full potential... whatever that may mean.
If Myron does have lifelong intellectual disability, it will be okay. People who have that diagnosis are wonderful and important members of society with so much to contribute to the world throughout their life.
Also, Myron has struggled in cognitive and adaptive behaviors his whole life. Seeing that these children also struggled in this area was more confirmation that this mutation was relevant to us. It was the origin we had been looking for.
Finding answers is bittersweet. It is relieving and satisfying, and difficult. It gave us a sense of permanence to our struggles.
But, there are only three kids recorded in the research. Three is so rare.
And three is not extremely helpful in terms of prognosis. The three in the literature each had varying degrees of severity and each presented with different areas of strength and struggle.
I will share that finding out that there is no clear prognosis for Myron left me feeling unsettled still. I so want to know how this story will go. But, I feel so much relief in an answer to all our questions and I am so happy we are done searching.
** NIH database and the research paper discussed are linked within the text