Genetic Testing Results

[HaoZi]

So, on those genetic tests. They did find something strange, but of the 1700 genomes that have been mapped, this abnormality isn't one of them. My thinking on this:
Some of the smartest people on the planet work on the human genome project + Kiddo has something they haven't figured out yet = Some of the smartest people on the planet can't figure out Kiddo, either.
For some reason, this makes me feel better. And now they're going to check me for it, too.

 

[tiredmommy]

I can see why that would make you feel better. The good news is that science will eventually catch up.

 

[HaoZi]

Addendum: I started digging, and I found an article reporting the first discovered deletion of this particular part, but Kiddo's shows a copy number GAIN. The kid with the deletion had developmental delay. Hmmm... must do more research. So maybe not quite as odd as genetic office made it sound. And a good reminder that even a well-published doctor hasn't seen it all.

 

[Marguerite]

Genetic analysis still will not explain everything. For example, while usually kids with Downs Syndrome (an extra chromosome 21) have certain physical characteristics as well as intellectual deficits, there is a broad range of what is found. I've known Downs kids who are able to attend mainstream school (with support) doing a mainstream academic program, up to a point. Others in Australia are familiar faces in movies and TV for their acting ability. They could learn scripts, perform various roles and sometimes had quite challenging roles at that. I've heard of one girl with Downs who was actually functioning intellectually at a superior level. And yet there is difficult child 3's drama classmate whose parents have done absolutely everything they could, spent money on tutors, worked with her, and at 17 she still can't read. She was beginning to read baby books a few years ago, but her mother said she has lost what reading ability she had. She loves going to the library (I used to babysit her and she often asked if we could go to te library - I would get difficult child 3 to complete his schoolwork while I read books with the girl) but all the help in the world, all the remedial support at school, has not helped this girl achieve very much academically.

Genetically, trisomy 21 is trisomy 21. Why can some kids achieve more than others? I would swear that difficult child 3's classmate has had at least as much effective help as others who have done better.

What I'm saying - genetics only explains so much. There are other, more subtle aspects that science has not yet been able to identify or describe, as well as other genetic effects overlaid with environmental/developmental effects.

it is good to get a better understanding, though. I'm glad you have some interesting answers, even if they don't necessarily make a lot of sense yet.

Marg

 

[HaoZi]

I don't expect it to really explain anything. There's no telling what it is, or if it's even something that actually exhibits itself. Could be why there's 6 permanent teeth that haven't developed, or that her eyes change color like mine, or the fact that her hair has stripes (yes, actual stripes on each strand, you have to look close to see it, her father's hair is the same way).
It's on the 9th chromosome, by the way. I know my bio-mom has an extra chromosome or some such abnormality as well, but I can't recall exactly what she said about it and the letter it was in got destroyed, so I'm wondering if this is the same thing.

Whenever an abnormality shows up, they do parental testing for the same thing in the parents as an add-on. While obviously her father isn't here to do it, we went straight over the lab next door to the genetic doctor to do my sample, and I set up an appointment to get a more in-depth profile on me, too. They're going to try to ram through the pre-approval on my insurance before my appointment so that I can go right to lab for it that day instead of having to make a separate 50 mile round trip for it even though I don't have a personal doctor yet (takes forever to get a call back here, last one took four days to call back and tell me that doctor wasn't taking new patients).

 

[Fran]

I think the more we participate in research and trials, the sooner we will know what makes our kids tick, just like we know about the average person. I commend you for pursuing it and for participating. Researchers are so different than practitioners. Their whole focus is different. It's about the science for them.

 

[AnnieO]

Years ago, someone set up husband's family with a longitudinal study that is done through a university here. I know father in law participates, and sister in law/niece/nephew - and husband, Onyxx and Jett as well.

Of course, they will only be interested in my DNA/etc. if husband and I have a child together.

husband's oldest son - M - lives in PA, and I don't think he ever made it into the study. Don't think the child's mother was able. But... he is almost a clone of husband looks-wise. Amazing to look at pictures of husband 20 years ago and see - M...

 

[HaoZi]

I wish they found it as interesting as I do, no indication was given that they want to do anything further than get my sample.

 

[ThreeShadows]

Haozi, would the testing have picked up on chimerism? Did they test her hair? The striping is interesting, though you say her father has it too.
husband, his mom and her father all had adult teeth that never developed.

 

[HaoZi]

That's one I have wondered about, since her eyes are blue but each has a stripe of hazel as well that developed when she was younger. And I don't think it would have picked that up. As I understand it, in the chimeras the blood has one DNA and the tissue has another DNA. I'll have to dig that one up again and check the research.

 

[Marguerite]

HaoZi, it's not necessarily blood vs tissue with different DNA, it can be a lot more subtle than that.

Marg

 

[TerryJ2]

Weird. Interesting. And ... arg.

 

[HaoZi]

HaoZi, it's not necessarily blood vs tissue with different DNA, it can be a lot more subtle than that.

Marg

Cool, I thought that might be the case, but not seen a lot of research on it. The question is, would that show up as a chromosomal abnormality in the blood or would it (in most cases) only be discovered by finding differing strands of DNA in the same person? And is it something that would have bearing on her mental/emotional health issues? I could see it being an issue if organ transplants were involved, but if it's mostly a matter of cosmetics or whatever, it would be a matter of curiosity only.

 

[Marguerite]

only be discovered by finding differing strands of DNA in the same person

Yep. Because it is fairly random, different parts of the body are affected, from one chimeric person to another. Sometimes it's just a matter of curiosity, sometimes there are serious health aspects. I think you would need to read up on it more.

Marg

 

[HaoZi]

I'm not finding a whole lot about it. Her partial heterochromatic eyes only pull up three things based on genetics instead of injury: Waardenburg Syndrome (which is on a different chromosome), chimerism, and some kind of tumors. I can't find much on documented chimeras or microchimeraism (or whatever it's called). Can find a lot on the eyes, and people with it that don't show up as anything else (or at least have never had health issues linked to it).

 

[Marguerite]

With chimeraism, from what I recall, entire organ systems are more likely to develop rather than an organ being made of multiple different tissue types. You need to think how an individual develops embryologically. So the brain, for example, is one organ and would have one genotype, not multiple genotypes. It would be most likely that the spinal chord and majority of the nervous system would be the same genotype. Eyes - likely to be similar to the brain, but it would be possible for one whole eye to be a different genotype to the other. I'm a bit rusty on my embryology, but you should see some sort of pattern(ectoderm, mesoderm, endoderm), which helps an embryologist go back and play detective, working out why and how the chimera happened. Mostly it's s source of intellectual curiosity. It wouldn't be impossible for one organ to have multiple genotypes, but it would be incredibly unlikely - chimeras are already rare, a chimera with multiple genotypes in one organ would be a fraction of 1% within the spectrum of chimeras.

That is just from memory, I haven't had tim to do any digging. My knowledge is also about 35 years old. But even though it seems haphazard, there is always a logic to it that makes sense in terms of the individual concerned. A bit like difficult child behaviour, really - it may seem chaotic to us, but there is always a reason that makes sense to the individual.

Marg

 

[HaoZi]

If I could find my blacklight I'd check the kid for the stripes, but I have no idea where I put it (or my good glow in the dark paint, for that matter).

 

[Marguerite]

You don't live next to Homer Simpson's nuclear reactor, do you? It might explain a lot...

Marg

 

[HaoZi]

Not that I'm aware of. Oo

Blaschko's lines is what I'm talking about looking for with the blacklight. I used to keep it with my art supplies for when I use glow in the dark paint on something so I'm sure I get an even coat.

 

[HaoZi]

Ah well, either way it's not something that shows up on a specific chromosome like the anomaly they found in Kiddo. We'll know next month if I have it, too.