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The Day My Child Was Diagnosed With TUBA1A

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You know that moment when you receive a call from someone on your child’s medical team and life is at a momentary stand still? I know you know it. The slight panic, the billions of story lines running at high-speed through your head about why they would be calling you. The fuzzy feeling, slightly sick and hopeful all at the same time feeling.

Those are the feelings I had when we went to our first genetics consultation, when we received a diagnosis, and when I got a call from the genetics team yesterday. It was totally out of the blue. I was totally caught off guard. Looking back, when we had Freddie, we were so naive about his disability. Even though we were told at my 20-week scan that our baby’s brain wasn’t developing correctly, and we had asked tons of questions and freaked ourselves out by Googling all possibilities, it never ever occurred to us it could be something genetic.

I’m fairly sure no one had ever suggested genetics, especially because all the tests and scans were coming back negative. That term just wasn’t a part of my vocabulary. At our first genetic counseling session, our second child Bella was still a tiny baby. We were asked if we thought she had any differences or difficulties. Was she developing as expected? I can still feel the cold sweat shock as I let those questions sink in. Could it be hereditary? Could we have unwittingly charged ahead with a second child without all the information to tell us if she would also have a disability? From that point on, every milestone she approached was met with caution and relief in equal measure. She was so speedy to walk and talk. She was, and still is super independent.

Our two biggest concerns from that meeting were whether or not Freddie’s condition would be life-limiting, and whether Bella would be a carrier. We would need to know this to give her all the information she needs as an adult to make decisions about having a family of her own. Our biggest fear is, will a diagnosis come with a life-limiting label? I just can’t bare to go there in my head, but I am a pragmatic person and I crave knowledge, so I need to know. I just don’t want to know.

We had been on the Deciphering Detrimental Disorders (DDD) study for a couple of years. To be honest, I never thought we would receive a diagnosis because every other test had come up negative. The day we received the call from our geneticist to discuss their findings was a shock. I had been in regular contact with them, asking for any result updates — not because it would change very much for Freddie in the present, but because we wanted to try for a third child. This time, we wanted to do it with a full bank of knowledge. There were no answers and we were getting further away from the time we would like to try. We took a leap of faith and went ahead. By the time that call came through, Jago was almost 12 months old.

That sick, swishy feeling came over me again. They had a diagnosis. We then had to wait about three weeks to meet with the doctor in person at the hospital. I tried so hard not to think about it. I thought, I couldn’t change the outcome or our choices, that it is what it is, and we will deal with it. Our geneticist was fantastic. She was calm and clear and gave us as much information as she could. We had quite a lot of questions, but had we had more time, we would have asked more. It was exhausting.

Freddie is Rare. Freddie has been diagnosed with a rare genetic condition, TUBA 1A. At the time of receiving the diagnosis, there were only a handful of other children known to have TUBA 1A in the UK. A rare disease is defined by the European Union as one that affects less than 5 in 10,000. One of those children was deceased.

I don’t know whether or not that child had other medical issues. I don’t know the reason for death. I just know, I now have to try to keep my head when this knowledge creeps back into my conscious mind. Practically talking, Freddie is medically healthy and although there are issues, they don’t have any life-threatening concerns right now. That is how I want it to stay. It is always a good idea to have both partners attend the results meeting. Often what you hear is a version of what was actually said. Thankfully, we were given some paperwork and a letter confirming the outline of the conversation. It turns out that Ollie heard something slightly different to me. We were told it was genetic. We were told they had looked at mine and Ollie’s genes too. There were no correlations with me. There were some gene changes in Ollie that Freddie shares, but they do not have anything to do with his diagnosis. Ollie just heard the first bit. For around two months, he never said a word to me. He spent that time thinking it was because of him. It was only when we read the diagnosis paper together that he realized it was a de novo change, occurring in Freddie for the first time. He carried that stress and sadness unnecessarily.

Yesterday, totally caught off guard while chatting to a friend, the phone went. It was our geneticist. The slight panic, the billions of story lines running at high-speed through my head about why she would be calling me. The fuzzy feeling, slightly sick and hopeful all at the same time feeling. Those are the feelings I had again. Was she going to say they had found a connection to his diagnosis being life-limiting?

Thankfully, the call was to say there have been some more children diagnosed and the DDD study wanted to write a paper in conjunction with the various geneticists around the country. There is so little known and so little literature about TUBA 1A, that this would be the first real collection of data and information to help future families. Would we be interested and happy to have Freddie included in the paper? Yes. A thousand times yes.

If this knowledge had been available when I was pregnant with Freddie, or when we first had him, it could have provided so many unanswered questions. If we can help another family in the future not to feel as alone and isolated as we did, it will be worth it.

I still don’t have any answers about Freddie’s prognosis as he marches ever closer to his teenage years and adult hood. I have to just keep everything crossed that as more knowledge is formed, nothing presents itself with a life-limiting label.

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Originally published: January 29, 2018
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