Results of genetic tests

We finally received some test results. I had called the Childrens Hospital to inquire about the test results that we were supposed to hear back on in Feb/Mar and it took forever to get through and for them to get back to me. They said they had sent me a letter and everything would be going through Fargo now, so we won't be following up with them at Childrens Hospital anymore. I waited and waited for a letter. Didn't get one. I talked to Evans pediatrician and she said that she got a letter that did nothing more than confirm that he had chromosome 18 deletion, which we already knew. She said to ask her if I wanted a copy of the letter. I decided to get a copy and called and talked to her nurse, her nurse put me through to med records and they wouldn't give me a copy... said I had to go back to childrens to get a copy. I eventually emailed the pediatrcian and she sent me a copy of the letter and the results from Childrens right before I left for my trip.

So when I was on my trip, I read through Evans records a few times and found out some interesting information. First off, there was a basic genetic test done when Evan was first seen in the genetics clinic, before he was 1 . . Interestingly enough noone told us, not sure when they did the blood test, unless they snuck the test in when he had blood drawn for something else or when he was there for his circumcision re-do surgery or something. I remember distinctly that at that time the geneticist and ENT dr both made such a point of saying how they didn't think tests were necessary because Evan was just too cute. Seriously, they didn't look at all the other signs. One of my friends told me that if there are 4 things noted, genetic testing should be routine. Evan definately had at least 4 things at the time; stenotic ear canals, hearing loss, low muscle tone, dev delay, no growth on chart between milestone visits, not being able to sit up until after 9 months, not being able to walk until almost 2.

Well the original test results showed that all was normal, but that test didnt check for deletions, it only checked to see that all chromosomes were present or something like that. Reading the cytogentetics report, it looks like they only took a small sample from 18q21 to test and didn't test anything else.

When I read through the results from last June, that they told me were not detailed enough, I found some disticnt information... although the results from November are much more informative. Still they have all the info I need, I just don't know what it means until I can actaully talk to a genetic dr about it. I am waiting to get the referrel for the genetic dr from Grand Forks who travels to Fargo, but haven't heard about that yet. So anyway, his test results reveal a "copy loss in 18q22.3->q23". I'll report back when I find out what exactly that means, it does account for his stenotic ear canals... which is the reason the radiologist back in 2004 recomended genetic testing.

There is more info in these results, but I just don't know how to read it, how to make make sense of it, or what it means. The blood clotting tests that revealed von willebrands disorder was first entered into the charts as normal and then later corrected as abnormal and it was noted that it was a typo. Hmmm... gives me a lot of confidence in minneapolis children's hospital.

Each of these tests results were documented within a couple weeks, but we were not informed for multiple months... and even then, they didn't really say anything. Its like they would rather not talk to me because they didn't know what to say. You would think that specialists would be able to at least give me more explanations about how it all works, instead of avoiding me. At least now we are on the right track. I just find it interesting that now I feel like I know and understand some of this more than some of the doctors do.

I learned a lot from the conference and have notes to go through, so I'll try to post some of the suggestions here too. One of the things on my list is to see a endocronologist and test Evan for growth hormone deficiency.

At the conference, I also enrolled Evan in a research study. If we qualify for any of their on site resarch studies, they will fly us out to San Antonio for a week. That would be very neat, and very interesting. The doctors there are very informed on chromosome 18 and through the research are going to be able to make more information available to parents and doctors in the future.

I'm feeling much better, and know much more, but still have a long way to go with learning and figuring things out. At least, it is all coming together.