Step-By-Step {A Genetics Consult}

Last August, our pediatric neurologist referred us to a genetics counselor. They called us the next week and gave us their next available opening. Which was 6 months out. I tried to do research on what would happen, because I absolutely hate being blindsided, but I found nothing. So, this is a little play-by-play of our first genetics appointment. Maybe it will help someone else? Maybe it will just help me process all the information and the heaviness that is genetics consult. Or maybe it will just help Adelaide’s faithful prayer warriors.

adelaide genetics 1

First off, our counselor was awesome. She started by just chatting with Adelaide, which I loved. Adelaide is nonverbal, but that doesn’t mean she needs to be talked about all the time without being addressed. And on a day when we had three appointments at three different campuses, Miss Adele spent much of her day hearing people talk about her. But Caitlin talked to her. And to us. It was very comfortable. If part of her job description is to make you feel less like you want to hide in a closet and more like you want to not run away crying, then she deserves a raise! Because, honestly, there was zero percent of my being that wanted to be at that appointment. We already know that Adelaide is so rare. We already know that genetics testing costs a lot of money. And we already know that the chances of getting answers are pretty low. But I put on my big girl pants and showed up with an open mind. And Caitlin was a Godsend. With her pregnant belly and adorable flats.

Caitlin started by explaining that the benefits of genetics testing are really subjective. She talked about all the reasons people do and don’t go through with different steps. I didn’t realize there were so many levels of testing. We discussed how finding answers cannot cure Adelaide, but it may offer helpful information for her future and the future of other people related to us. Things I knew, but she answered all my questions.

Then she started filling in all the blanks about Adelaide. It was more of a conversation than an interrogation. She had her complete chart, but really dug into what Adelaide is like from head to toe. Her personality and interests. What she hates. How she responds to situations.

adelaide genetics 3

Then there were lots of questions. My pregnancy. We discussed my habits, diet, and delivery. Was I exposed to anything? We moved onto Adelaide’s nursing. She was technically labeled Failure to Thrive at 2 weeks. But I ate flax every meal and nursed her every hour for one week. And she gained 16 ounces in one week and we never dealt with weight loss again. But it still comes up in every first-time visit.

Caitlin built our family health tree by gathering information about both sides of our families. Births, miscarriages, deaths, learning disabilities, conditions, ages, and other health factors of all our biological family members.

She then explained the different types of tests. She also used a great cookbook analogy. She said that our first tier of genetic testing {2 years ago} counted Adelaide’s cookbooks to see if they were all there. Then, it opened some of the cookbooks to see if large chapters were missing. This next level of testing will actually go through cookbooks looking for spelling errors, deleted sentences, or repeated sentences. We revisited this analogy throughout the visit.

Dave and I were encouraged to ask questions at every step. Then Caitlin left to conference with our MD of dysmorphology and we were left to eat all the snacks I had packed. If you are going to a genetics consult, pack snacks. I asked Caitlin what her best advice would be for parents about to attend their first genetics meeting. “What you did. Snacks. And toys. Tell your friends to bring snacks and toys.”

When Caitlin returned, she introduced us to our Doctor. He reminded us that he wasn’t diagnosing Adelaide with anything, but gathering information and helping us decide which, if any, tests needed to be done. We answered more questions and things started to move fast. He had an idea about a disorder that closely matched Adelaide’s behavior. He measured everything on Adelaide and quietly said things I couldn’t understand to Caitlin, who jotted down every number and note. Warning: listening to someone verbally point out every.single.thing wrong with your child is hard. Just so you know. And nothing makes it easier. It is a long process and it stinks. But Caitlin kept smiling and I kept eating snacks and we all got through it! And we gave permission for them to take some photos. Adelaide posed so sweetly.

adelaide genetics 2

Then, our Doctor wanted to order labwork and tests and Dave said, “I think we are moving too fast.” Caitlin jumped in and explained the process. We would take Adelaide’s blood to rule out some easy-to-diagnose disorders. It is fairly inexpensive and needs to be done before we can even look at DNA. Those tests, if we chose to do them, would give us results in 2 weeks. We would also extract some DNA and freeze it. We wouldn’t run any tests on it at this time, but freezing it now means that we won’t need to take blood again in a couple of weeks if we go through with additional testing. Caitlin reassured us that nothing happens without our permission.

So, we drew Adelaide’s blood and gave permission to freeze DNA. In two weeks, we will get results about the first tests. At that time, if we don’t get any answers, we would like to do a very specific test for Angelman’s Syndrome. Adelaide has many characteristics of it. Caitlin, our Dr., and Adelaide’s neurologist all agreed that it was a good starting point. That test would come back 6-10 weeks after authorization. If that test comes back positive, then Adelaide will require some care. A heart scan and possibly medication. If the Angelman’s test comes back negative, then we are in the position of deciding about two genetic panels of DNA: a seizure panel and a brain malformation panel. Once we make that decision and complete all the paperwork, it could be 8 months to get those results. We still don’t know if it will find anything. And we have no idea if it will even be considered by insurance.

So many decisions to make. But it was a blessed trip. And not at all what I thought we would encounter! I have always blogged to help me document Adelaide’s rare case, but also as a way to possibly help another parent. I realize this was a lot to read, but hoping it either helps you know how to pray for us or gives you some peace about your own upcoming genetics consult. I know it has helped me with one of the more difficult things we have done for Adelaide.

adelaide genetics 4

Check back in two weeks for our first batch of results! Who knows…maybe we will get some answers on our PMG Superkid! Until then, I am eating some snacks! And praying for the team who is discussing Adelaide in conference this month…they are interested in her MRI.

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4 thoughts on “Step-By-Step {A Genetics Consult}

  1. J.P. says:

    Hi there! I found your blog from reading something posted from The Mighty. You’re an awesome mama. We just went through the whole genetics process for our 1 year old and its definitely not fun…having all the things “wrong” with your kiddo pointed out – and some things you maybe didn’t even notice! :-/ But it sounds like it was at least positive! My sweet girl sounds a lot like yours…colpocephaly, hypotonia…she just had double strabismus surgery today!! We found out she has a deletion in part of her 6th chromosome…although it’s hard to hear it is somewhat of a relief to feel like you’re getting some “answers” and can stop poking and prodding for a while. Anyhow wishing you and your family the very best on your journey :-) you are not alone! Take care. xoxo

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  2. […] be sent off. We don’t know if this next step will happen. Your guess is as good as mine. But I feel compelled to be transparent about our genetics journey. Maybe it will help someone else. I don’t […]

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  3. […] you’ve been following our genetics journey, then you know I’ve been pretty transparent about all of it. Except I haven’t. […]

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  4. […] saint. Because I think about it everyday. I wonder what Adelaide would’ve been like without a genetic abnormality…if that’s even what happened. We honestly have zero clues about what caused […]

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