Oh boy, I went a whole year without writing something personal. It was an eventful year. Every time I thought about writing, I debated whether or not I wanted to remember the moment. I debated whether writing would help someone else. I debated whether writing would hurt someone else. I spent my creative energies elsewhere. I resumed comedy! I ended the year with the best performance of my career! The year ended on a high note.
The year began on an unexpected note. Each child is their own person, and that was immediately clear from the get-go. Baby #2 was a lot more _work_ than we anticipated. I thought the additional stress was because we now had two kids. And a lot of challenges did stem from juggling two kids. A lot. But also, he had a lot of additional appointments. In the first four months we had seen a cardiologist, plastic surgeon (unclear if this one was necessary, but no regrets), dermatologist, ophthalmologist, neurologist and pediatrician, of course. David and I were both nervous, and in the middle of the night we would independently google our fears. ‘Twas not a great time.
At some point we quipped, “If there’s a 1% chance of something, we feel like he’s going to have it,” to our pediatrician, who helpfully said, “Oh, hm, you should think about getting on the list for genetic testing. It’s not a big deal, but you might as well line up an appointment.” I interpreted that as a casual recommendation and willfully ignored it. Then he was diagnosed with hypotonia, and we made a genetics appointment.
For anyone hoping to learn more about modern testing and the advances over the years, I highly recommend: The Genome Odyssey by Dr. Euan Angus Ashley. I was blown away by how recent the technology is, how much more accessible it has become, and humbled by the depth of independent research a lot of families do to give their kids the best chance possible. Several of the medicines for genetic conditions were discovered by parent scientists who tried things themselves. It has to be this way, because the sample size for genetic mutations is small: first most people don’t know what they have and second it could be hard to find people who do have similar conditions.
A few people ask whether we regret genetic testing, and I am going to list the benefits and negatives as we experienced them here:
Benefits:
1) Knowing is much better than not knowing. Before we tested, we were playing essentially a game of “whack a mole” where a symptom would appear, and then we would have to find a specialist to help. You have to do this regardless of whether or not you test. Before we tested, every time a new symptom appeared, we would google that symptom in conjunction with other symptoms. The results, as with any medical search, were often devastating.
I cannot stress enough how helpful it was to not have to keep searching randomly. Once we had the results, we could target our research and have a general idea of what to expect and other potential specialists to line up. The goal is always to give kids the best chance possible, and knowing helped us with this.
2) Once you know, states have programs that you can access, given your diagnosis. Healthcare is incredibly expensive, and it’s even more expensive if you require seeing specialists several times a month. I was happy to learn that there are mechanisms in place to help. Early intervention programs are a great resource for navigating a relatively lonely child raising experience.
3) Relatives who have been googling as well can stop. Stress levels overall decrease.
Downsides:
- Depending on the diagnosis, you may or may not have the answers you need. Most of the time, knowing the genetic mutation does not tell you how your child is going to perform. Every mutation has a range of outcomes. Typically the older research focuses on the most extreme outcomes, because those are the people that caught the interest of researchers. And again, sample sizes are typically small.
- Related to the above: if you have a very rare condition, as we do, you don’t have as many answers, or even forums, as you might expect. The doctors won’t have answers either. That’s okay.
- Your genes are not your destiny. Science has come a long way, and early intervention programs see some great outcomes. Technology advances have also helped a lot. We plan to leave whether he wants his result to be part of his identity up to him. In the mean time, we limit telling people, because we don’t want anyone else to bring preconceived notions into their interactions.
I am very grateful genetic testing was available to us.
Knock on wood, we are pretty fortunate that he appears to be on the easier end of the spectrum. And while the first part of the year was hard, he has always been a total delight. He is a joyful, opinionated, curious, quirky kid with a great sense of humor, just like his sister.
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