I’m sure you clicked on this post thinking that we would’ve actually gotten some answers from our genetics appointment. Sorry to disappoint.
I’ve always been a very impatient person. My mom told me that the more impatient I am, the more God will present me with situations that test my patience so that I can grow. I think this is one of those times.
In summary, we did not leave with a diagnosis. Was I expecting to leave with a diagnosis? I think deep down I really wanted to leave with a diagnosis but realistically I knew that that was probably not going to happen.
We met with a geneticist (the doctor) and a genetic counselor. Instead of going through the whole conversation word by word, I have developed three conclusions that I left the appointment with.
Number one: Gannnon is developing normally. Gannon is growing normally. They told me that that alone rolls out a lot of genetic conditions and disorders and that there is a chance that they won’t find anything with genetic testing.
Number two: Although all of my concerns are valid, they’re only mildly concerning. I heard a lot of “well his joints aren’t that loose“ and “well his muscles aren’t that weak“ and a lot of “his milestones aren’t that delayed“ and “it doesn’t seem to affect him very much” which was super frustrating.
The doctor suggested that this is all G.I. related and that he thinks it’s a motility disorder. At that point I questioned if he had even looked at his chart to see that we had been in Milwaukee and had antroduodenal manometry to rule out any form of a motility disorder. I pointed this out to him.
I’m sure they have to call him a lot of very anxious patients down when they come for genetic testing and I know this because when I was in ER nurse and a kid was really sick and sometimes downplay it to the parents so that they wouldn’t get so worried. And while it’s necessary in some situations, it’s very patronizing in other situations. I felt very patronized today.
There was a lot of, “what are you so worried about“ and “he seems to be a healthy young guy“ and “he seems really happy“ and at one point the doctor said to me that he didn’t realize I had such anxiety about Gannon‘s issues. I’m like, dude, I’m just answering your questions. I’d say something like “He had a really weak cry when he was first born, he was so quiet” and it would be met with “Well that doesn’t seem to be the case now!” Well, you asked! I’m just telling you.
They told me they don’t think it’s Ehlers Danlos syndrome. They said that he would have a very distinct features and characteristics that they would be able to diagnose him with just an examination and he does not have those features or characteristics.
At that point I was so frustrated I didn’t even ask clarification as to what they were looking for that they weren’t seeing.
In the end I did leave the office with some closure in some kind of a plan they are going to do what they call a CMA, a chromosomal MicroArray which if you imagine all of the genes and chromosomes in your body it looks as a library it looks for any extra books on the shelf or any books that are missing.
They are also testing him for fragile X syndrome which is a very broad net that they are casting. They don’t expect either of these tests to show anything.
If we’re sticking with the library analogy, the next test they would order is like if you were in the library and you were searching through all of the books for misspellings, you would probably miss some books with misspellings because you’re looking too broadly. If you were looking in one single book for a misspelling you’d be more likely to find it. So essentially after this first basic test that takes about 4 to 6 weeks to come back (looking for extra books or missing books), they will specify testing.
I thought, why not pick a section of books to look through instead? Like the connective tissue section? These genes that they will be looking at, there are about 3000 that can cause connective tissue disorders. This is a lot more in-depth, both Craig and I need to get blood drawn and tested to do this test.
We will follow up with genetics in about three months and go from there. They did offer a tiny bit of reassurance, this is most likely has a connective tissue disorder which really isn’t anything we didn’t already know or haven’t been told before.
Frustrating. Back to square one. Back to “we have no idea.”
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I’d be frustrated too. I was talked down to when my son was in elementary school, so I have a tiny idea of what you experienced. We faced nothing compared to what you’ve been through. As I was reading your post, I wanted to yell at the doctors: “If he’s so normal…then why are we even here?” “Why did you even have us come in if you don’t believe Gannon has a problem?” Sorry…but I do hope there are answers further down the road for you and your sweet baby!
I’m sorry you had this experience as I experienced it a lot when my now adult son was a toddler and it continued throughout his life. I think a lot of doctors discount moms because “we worry and get anxious” too much. I found it frustrating to the point of having my husband go along or have him go when only one was allowed to what I considered “important” appointments. I know it’s not always possible with your husband’s schedule and it really shouldn’t be this way. I would provide feedback if you get the opportunity. Being dismissive is not good medical practice and obviously another doctor thought you needed to be there. It’s great that Gannon is doing so well but that doesn’t negate the need to know if he has a genetic disorder and be aware of potential things to look for in the future.
I don’t blame you for being angry! There is no excuse for being talked down to and having your concerns minimized. If you’re not asked, then call the patient advocate and voice your frustrations. Gannon’s problems may not the the most severe these doctors see but that doesn’t mean they aren’t significant. I wonder
if they were so charmed by his smiles that they weren’t able to see beyond that. Don’t give up. There are answers out there.
We had one appointment with the geneticist after our daughter was released from the NICU. I didn’t care for him when I met him in the hospital and cared for him less after that visit. Our daughter has a genetic disorder and there’s no clinical cure. When I asked what the purpose of having us drive two hours every few months to consult with him was, he stated his purpose was to educate us and let us know what we were in for. He also suggested we move because we couldn’t get internet at the time where we live and generally treated us like lesser beings.
Our daughter is now five and doing quite well. The kid he suggested would be out-of-control was, according to her teachers, one of the best behaved students in her class last year. As far as being educated about her condition, I have read up on it quite a bit but in the long run we decided not to treat her any differently than any other kid her age which I think was the right choice.
I know my case isn’t anywhere near as complicated as yours but continue to follow your instincts. My friend was diagnosed with vascular EDS after having an aortic aneurysm that nearly killed her. All of her earlier symptoms were diagnosed as something different so don’t give up until you feel you have a definite answer.
Well poop 🙁 Damned if you do an damned if you don’t. To be an educated person and Mom is a double whammy. Nurses can be revered or treated as annoying. You have every right to advocate for your son to assure him the best care and outcome. It’s a big library of research to do all by yourself! Stand firm Mom.
Hugs to you.
So darn frustrating!!! Doctors who are condescending (or any other “professional”) need to be smacked up side the head!! Of course, you are concerned about your son. While he is not as impacted by whatever it is he has going on as some kids are with whatever they have going on, he does have challenges that require you, as his parent, to have information to make the right choices for him. It feels as though they forget that this is “the worst case scenario” for you and Gannon. It may not be the worst case the doctor has ever had to deal with, but it is for your family! Hang in there and keep up the good fight for Gannon!!!