Earlier this week, Little Red had her first geneticist appointment. In my mind, our pediatrician referred us there as a kind of final attempt at trying to ascertain if her ailments were all connected in some way. If you’ve been reading for a while, then you’ll know we’ve already ruled out some pretty rare things with him already. (You can read more about that here and here.)
THE GENETICIST APPOINTMENT
We met with a lovely man, Dr E, who had obviously read through her notes. He asked more about our family history, my recurrent miscarriages and the twin pregnancy itself. I was actually already a bit on edge about talking about our miscarriages to begin with. During a brief phone conversation with a nurse before the appointment, she had asked me about it and responded with “that’s a lot”. The idea that something genetic may have contributed towards them had been playing on my mind.
Anyway, like with our own research and the investigations our pediatrician has done, we always fall down at the last hurdle. What I mean by this is that LR will tick all the boxes except one, ultimately being unable to be diagnosed with something. For example, we’ll get the spine abnormalities, cardiac and ocular issues and then she won’t have three legs so she doesn’t fall into that syndrome anymore.
We’ve considered that maybe she was just made this way and that’s that. But we also wanted to be sure of that because if she had something degenerative we’d like to know. As I’ve explained before, could she have a condition that means she may go blind at age twelve so regular vision tests are required? Or do we simply manage her current ailments knowing they won’t worsen or that something else is going to come along, like kidney failure. (FYI, these are all examples so don’t be alarmed!).
I was advised by a few medical professionals, to not agree to a huge genetic test that is ultimately a fishing trip. Unfortunately for us, “fishing trip” was the exact term used by Dr E. LR had him pretty stumped, although he did mention one or two conditions that have SOME of her physical problems. Because he’s not exactly sure that she completely falls into them, he advised it would be best to test her genes for everything.
- We may get confirmation that she has a syndrome, albeit a rare one;
- Preparation for any future issues that may arise;
- We might know if her children may be at risk;
- If she has recurrent pregnancy loss we may know it’s because her ovaries carry a certain gene mutation.
- We may find absolutely nothing;
- We may find something we weren’t looking for;
- Her siblings might have mild cases;
- It could affect her health and life insurance policies in the future.
Dr E was pretty thorough with the pros and cons. All of which didn’t really sit comfortably with me. The positive seemed to be small in comparison to many potential horrible outcomes. Admittedly my neck hairs stood on end when he mentioned if LR did have miscarriages it could be because of an affected gene in her ovaries. You’know, that touched a real nerve.
There is also a likelihood that we’ll find out things that are troubling by themselves. Like do we want to know if she has a gene meaning she is more susceptible to cancer? (His words). What if our other children have it? What if it is degenerative?
I kind of knew this conversation was coming, but actually taking part in it was fairly confronting.
BLOOD, TISSUE & TEARS?
I’m sure Michael will correct me if I’m wrong, but I got the impression that testing her blood wouldn’t be enough. Actually, Dr E did say that. But, he also gave us a form for a blood test so maybe I need to clarify that! What Dr E also mentioned, was if, during spinal surgery, our orthopedic specialist had access to some tissue, for him to save it. Although it’d apparently be a long shot, some affected genes might be left over and because her spine is an affected area it could uncover something. Well, at least, that’s my understanding.
A TWIN THING?
The day after our geneticist appointment, Dr E called to say he had trouble telling the girls apart. He said it might be useful to confirm if they are identical and also to get Copperhead’s spine checked. During my pregnancy, we were told by a specialist radiologist that they were fraternal, but maybe it wouldn’t hurt to get it rechecked, under the circumstances and all that.
I’m pretty sure Michael is keen to get the testing. His point of view being that it may be relevant for her spinal surgery and her future in general. I’d like a bit more guidance and I do wholeheartedly trust our pediatrician. So, I’d like to talk to him first although I’m well aware the decision is ours and ours only.
The evening of the appointment was the first time I felt truly frustrated. I’ve never once felt anger or bitterness or even pity for myself or LR. I always think how fortunate we are to have three beautiful children. I love my life and I’m so grateful for it. But that night, I was frustrated. Frustrated at, I don’t even know what. Maybe that it doesn’t seem to be getting easier. Perhaps it was just fear that she may be taken from us too early. I don’t know, maybe it’s guilt about my part in it all and those feelings of helplessness that although I can try and do as much as possible for my Baby Bear, it just doesn’t seem to be enough.
I wish it was me and not her.