Life With Liz: Trust dedicated medical professionals for answers or help
The other day, E was sitting behind G. Suddenly, she made the announcement, “G, your ears are two different shapes.”
They were with friends at the time, and I understand that a great investigation into G’s ears was initiated and confirmed E’s findings.
When she arrived home, I was also informed, and as G was thoroughly over this discussion, we had to resort to photos, and it was again confirmed that yes, his one ear is slightly pointier than the other.
I tried to recall if he’d ever had any trauma to the area and started going through older pictures to see if this was something I’d managed to miss in all the years of looking at him.
After exhaustive research, I concluded that they had probably always been slightly mismatched, but as he’s grown, it has become slightly more pronounced.
In fairness, I had to point out that one of E’s toes is a slightly different shape than the corresponding toe on the other foot, something I’d noticed shortly after she was born. And, now, I have to modulate the arguments between “toe freak” and “ear freak,” so that’s fun.
I also got to remind them that each of them was born with other defects, and in the course of being thoroughly investigated, we also discovered that G has an additional blood vessel in his heart, which is currently of no consequence, but could come in handy if he were to ever need bypass surgery, which hopefully, he will not.
Of course, this also brought up the discussion of A’s major heart defect, and with all the things that are currently in the news, well, we had a long family discussion about why stuff goes wrong with babies.
Since all three of our kids were born with completely unrelated defects, Steve and I spend a lot of time working with medical teams and geneticists to try to figure out what was going on. And, we got nowhere. “Bad luck” was the official diagnosis.
The interesting thing about G and E’s defects is that they are most likely to occur in conjunction with other major medical situations. G’s is most associated with Trisomy-21, or Down syndrome. E’s was highly unusual to be detected at birth and they expected additional issues to develop as she grew up, and that has not happened.
While I am extremely thankful that both were able to be structurally repaired shortly after birth and have experience none of the longer-term effects that were anticipated, it still leaves me wondering why any of this happened.
A’s defect is different in that while it could be repaired to allow him to survive, he wasn’t able to be put back together “normally,” and has had to learn to live with the limitations created by his defect.
We also had three generations of our families come into the hospital to donate blood samples to help further the research and investigations into how this defect could possibly have happened. Those samples are still going strong, and occasionally, we get a phone call from another research team advising us of their findings. Which, so far, have been … nothing.
Every genetic marker that they’ve managed to isolate as a contributor has not been found in A’s, or any of our, samples. Additionally, one of the suspected causes of his defect is that an mRNA switch may not activate at the appropriate time to cause the heart to develop normally.
The weird thing is though that this mRNA switch is responsible for other developments as well, which is why A’s defect commonly occurs with other defects that are controlled by the same switch. And, A has none of those additional defects. Again, we’ll probably never know, and the best we can do is work with the information that we do have and support the research as much as we can.
It is a terrible feeling as a mother to wonder if you’ve done something wrong that has caused a problem for your child, especially when they’re old enough to ask you if you did everything you could to keep them healthy.
Steve and I were so ready to have kids. We did everything right. We were healthy, we took all the right vitamins, went to all the scheduled doctor visits, and we still ended up with three kids with issues.
There are still a lot of answers we don’t have, and we may never have them. Truly, at this point, do the answers matter to us? Probably not, but that doesn’t mean we will stop looking for them in the hopes that others will not have to go through what we have.
What I do know, though, is that the people we can trust are the medical professionals who have spent their lives dedicated to finding these answers and, in the absence of answers, have found ways to help these kids live their lives.
They are as frustrated as we are to not have more definitive answers, and to have to say, “We just don’t know.” It is disheartening and wrong to have this community have to fight a war on ignorance and misinformation at the same time they’re only trying to do what is best for the populations that they serve.
The repercussions of poorly informed and hasty announcements are going to affect generations, long after those that made them are gone.
Liz Pinkey’s column appears on Saturdays in the Times News