Skip to main content

The big genetics appointment

Some of our appointments are a bigger deal than others. Today was one of the big ones. :) When you have to wait 4 months to get in to see a specialist, you know it's kind of a big deal. And that there are not very many pediatric geneticists. :)
Back in October of 2010 when Raya was in the hospital, her GI doctor had the geneticist come in and see her because there were so many things going on with her at that point in time. She was a mess. We had done labs several times up to that point to test for things like mitochondrial disease, genetic disorders, metabolic disorders, and probably other things that they didn't share with me. :) Some of the lab work had come back abnormal but nobody was ever really sure what to make of it so we just kept plugging along and waiting to see what would happen next. Dr. A (the geneticist) came in to have a look at Raya and when he walked through the door and looked at her, he said that after reading her chart he was not expecting to see such a healthy looking child. (well, you know, aside from all the vomiting & bag of bile hanging from her stomach :) He ordered some kind of lab tests and said that if the results came back & it was anything he needed to see her for that his office staff would call me. I never heard back so I figured we were in the clear.
Fast forward to this past September. We had her CP screening clinic and because she has a diagnosis of CP but no visible lesions in her brain, they suggested that we see the geneticist to do further investigation about how she may have ended up with hyperreflexia & hypertonicity. We scheduled the appointment but the soonest we could be seen by genetics was January. Then after the awful experience we had at that clinic when we went to see the orthopedic specialist, I started having SERIOUS second thoughts about whether it was a good idea to bother with genetics or not. In November, we had another round of labs done by the neurologist to follow up on the metabolic labs that kept coming back abnormal and as kind of a last-ditch effort to see if there was anything genetic. I never heard back from her office so I assumed everything was normal.
Towards the end of December I had pretty much decided that I was going to cancel the appointment but decided that before I did, I would find out about the labs we had done. The first week in January when the neurologist got back into town, she called me one evening and apologized for not having gotten back to me sooner about the labs. I explained to her why I had asked about them and told her that I just wanted to find out if we had any reason to go to the genetics appointment before I called to cancel it. She said, "Don't cancel it, and here's why. The genetic microarray report says that there is a duplication somewhere on her 18th chromosome, to interpret the results with caution and that further testing is recommended." Oh. K, not cancelling it. She told me she had no idea what the results meant so the geneticist needed to be the one to interpret the lab report.
That was on January 6th and 19 days have never passed so slowly. I had her send me a copy of the lab report thinking that having it might let me find something out on my own. Ha ha, yeah right! Technically, I could read the words on the paper but they meant absolutely NOTHING to me. 2 years of having test after test done with results always coming back normal and ruling things out has turned me into a cynic, but I felt like we might finally be getting somewhere with this.
The day FINALLY came and Raya & I made the long trek to downtown Phoenix. We arrived at 9:30 for our 9:45 appointment and I think it was about 11 when we finally saw the geneticist. (once again, SO grateful for how efficiently our GI doctor's office runs! :) First the genetic counselor that works with him came in to take a family history. (yep, that's right, family. all your dirty little health secrets are now part of Raya's medical chart. :) No really, it only involved things that might be linked genetically to her medical issues.
While we were talking, Raya managed to fall off of a chair and land on her right shoulder, which she hurt on Monday night when she fell off one of our counter-height kitchen chairs. She cried and cried and cried, which made it hard for us to talk, so the lady went and asked someone to send a child life specialist in with some toys for Raya to play with. I was expecting toys but no, she walked in and handed my 2 year old an iPad! I was jealous.
Finally Dr. A came in and asked me a bunch more questions and we went over Raya's entire medical history and then he examined her. She must have really liked him because she was more cooperative for him than she's been for any doctor in a long time. She seemed to enjoy having him tap her knees and point a light into her face. :) He watched her walk up & down the hall and we came back in & he finished looking at what he needed to see.  Then he said something to the effect of, "Well, I don't feel like there's anything really big going on here but she's definitely a 'funny' kid." And by that he meant that although there's not any really big noticeable issues with her, she does have a lot of "soft symptoms" and there's just something about her that's a little bit off. He was impressed by the fact that cognitively, she's completely normal & she's pretty dang smart.
She does have some balance issues & although her hyperreflexia seems to have resolved completely, she does still have a little bit of increased tone in her legs. I told him that she has made huge improvements since she started getting services through DDD instead of early intervention and that THAT'S why she's doing so great. He did ask me what I thought of the CP issue and I kind of laughed and told him that everybody's got differing opinions about that. I did tell him the things that we see with her that line up with the clinical definition of CP though, and he agreed that he could see some of that as well, but that she is definitely doing well.

Then came the part about the lab test. When the results came back, it said that there was a duplication at 18p11.31, which means that there is extra genetic material on the short arm of her 18th chromosome. The lab report said that this was "of unknown significance" and that further testing would be necessary to determine the significance of the duplication. Dr. A said that there are 4 genes at the location of Raya's duplication and that those 4 genes have not been shown to be effected by having extra copies of them present. This means that there are no identified problems associated with having extra copies of the 4 genes that Raya has extra copies of. With that being said, there is also still a possibility that this small duplication on her chromosome COULD be the cause of at least some of the problems she's had. The only way we can find out for sure is for Donny and I to have the same genetic testing done, and the only way that's going to happen is if our insurance will agree to cover the cost of the testing. Dr. A said his office will contact our insurance company and explain that the testing needs to be done as part of Raya's genetic counseling/testing and hopefully that will be enough to get them to cover it.

If they do cover it and we get the tests done, here's how it will work. If either of us happens to have the same duplication as Raya, then we will know that the small amount of extra genetic material she has is just a family trait and is not of any significance. If neither one of us has the duplication, that would mean that it's a first generation mutation for her, and that would mean that the duplication does have significance and probably is related to her medical problems, specifically her GI problems. The genetic counselor said that the testing they are able to do now is really great and allows them to see the most microscopic of defects, but that that creats the problem of having to determine whether those tiny microduplications or microdeletions are of any significance or not.
We finally walked out the door at noon, so we were there for 2 1/2 hours. I felt like even though we didn't really gain any new information out of the visit other than him explaining the lab report to me, it was still a productive appointment. He wanted to follow up with her in a year to find out how she's doing. I think some of Raya's doctors only like to see her because she's doing so well and so many of their other patients have such severe medical problems that it must be nice to see a really healthy kid for a change. :) Oh, and before we left he asked me if I had a medical background at all because I used a lot of medical terminology. I laughed and told him that my only medical background was working as a physical therapy tech, having kids (especially Raya), and teaching medical terminology classes at one of those colleges that advertises at 2am for medical assistant school. :) It was funny but flattering.  :) So now we just get to wait & see what the insurance says about the testing, and then go from there.

Oh, and last but not least (and completely unrelated to genetics), I got an email from our GI doctor tonight saying that since Raya lost a couple ounces in the last month, we will need to increase her calories. I have a feeling that her lack of weight gain probably has as more to do with the source of calories than the actual number of calories since she's been getting about 1/4-1/3 of her calories from food in the past few weeks. She has grown extremely well on formula and not so well since food entered the equation. We'll increase her calories, probably just by increasing the volume of formula, and see if that makes a difference.


  1. Well yay!(?) for that potentially non-issue duplication. How brave of you. Geneticists scare me. Part of the reason we've never had Henry's road map.....mapped out. That and the amnio we did with him didn't show anything (recognizing that it also didn't test for everything). xoxo


Post a Comment

All comments will require approval from blog owner prior to being published.

Popular Posts

Adhesives Part 1: Adhesives & Taping Techniques for NG tubes

This series has been a long time in the making. Back when Raya got her NG tube, I had no idea there were so many different adhesives on the market. At the hospital, they had used some kind of fabric tape in a box that had to be cut with scissors and that was the ONLY thing we accidentally left at the hospital. Raya caught her little pinky finger on the tube a couple days after we got home and the only medical tape I had ended up bringing home was Durapore. This tape is VERY sticky, very strong, and definitely not the best option for the tender little cheek of a 2 month old baby. A couple days later, we went to the GI doctor and the nurse saw the tape and told me that Duoderm would be much gentler on her skin and she gave me a couple of 6x6 sheets to try out.
That was the beginning of our trial-and-error process of figuring out which types of adhesives were better for all of the different things we used them for. This will of course NOT be an exhaustive review of every adhesive out the…

Sensory Processing Disorder: How to Make a Weighted Blanket

Lately I've been toying with the idea of making Raya a weighted blanket. She loves heavy things and has a lot of sensory seeking behaviors in regards to proprioception. Translation: she craves sensory input that helps her to gain awareness of where her body is in space, and it takes stronger than average input for her to get the feedback that her body is craving. (or at least that's how I understand it :) She seeks out "heavy work" activities, like carrying heavy things, pushing heavy things around on the floor (chairs, full laundry baskets, etc), and anything that gives heavy resistance to her muscles and joints. Lucky for us, carrying her backpack is a good heavy work activity because the poor kid gets to do that for a few hours a day. :)
The idea behind a weighted blanket and other heavy work activities is that when the child gains greater body awareness through proprioceptive input, the nervous system can be calmed and the need for constant fidgiting, moving, jump…

Feeding Tube Terminology: G tube words

One of the many things I didn't have a clue about before Raya got her G tube was the fact that there are LOTS of different kinds of G tubes, all with similar but different features & functions. Some of the terminology that was tossed around in the beginning was very confusing. When I met with the surgeon to pick out a button for when Raya's initial tube was ready to be changed, they pulled a bunch of tubes out of a cupboard, put them down on the table in front of me and said, "What kind do you want?" I had NO idea what to pick, all I knew was that anything would be better than what we had at that point.

Here are a few things I wish someone could have explained to me before Raya got a G tube:

1. What the heck does PEG mean?
PEG stands for percutaneous endoscopic gastrostomy. In other words, a gastrostomy tube is placed through the abdominal wall using an endoscope to visually guide the surgeon to the best location to place the tube. The term PEG is used to refer to …