Gannon Update – Genetics Results and Appointment Week!

If you are new to the blog, Gannon is my 18 month old son who is currently undergoing testing for what is believed to be a connective tissue disorder causing gross motor delays, a speech delay, swallowing difficulties, GI issues, muscle weakness, joint laxity, I could go on. In his little life, he has had more procedures surgeries and tests than Craig and I combined. Here is a more comprehensive post about Gannon’s issues: http://www.thepinkshoelaces.com/gannon-joseph-friedman/

So first up, we were in Iowa City by 8 am on Wednesday. That means we were on the road by 6 am. Gannon gets super car sick during these early morning rides so I made sure to put his bibs on and I wouldn’t let him have his sippy cup.

We met with Dr. Storm, Gannon’s urologist who did his testicle surgery back in February and his inguinal hernia repair. We love Dr. Storm. He concluded that Gannon’s right testicle, the one that needed to be “pinned,” is kind of whimpy and may not “make it” or function normally. He said that the left testicle should do the job though and Gannon shouldn’t have fertility issues and should experience a normal puberty.

I was a little disappointed to hear this, everywhere I had ready about the orchiopexy said to HAVE THE SURGERY SOONER than later – around 6 months – to prevent this exact complication. Our surgery was delayed twice – once was a scheduling issue with the surgeon and once when he had RSV in January. It makes me wonder if I would have pushed him to get the surgery sooner if it would have “survived.”

Is this TMI? Maybe. But boys that are born with undescended testicles is pretty common. I just want to give all the information I have to maybe ease the mind of some parents who are also going through the same thing. If I have any advice, get it scheduled ASAP – even if they tell you to “wait and see if it comes down,” get a surgery date on the books that you can cancel later.

On the way home, we stopped all the donations off in Cedar Rapids at Willis Dady Emergency Shelter – you can find this post here: http://www.thepinkshoelaces.com/willis-dady-emergency-shelter-donation/

We got in the car and I totally forgot to put Gannon’s bibs back on – sure enough he coated the car seat on the way home. We can’t wait to turn his car seat around to see if that helps with the car sickness.

Anyway, today’s appointment we went back to Waterloo to get Gannon’s braces for his ankles adjusted. She added some more padding and trimmed the toes so they have a perfect fit. Gannon wears his braces about 60% of the time and then is barefoot the other times. You can read more about Gannon’s braces here: http://www.thepinkshoelaces.com/gannons-braces/

On a more frustrating note, Gannon is undergoing genetic testing. You can catch up on that post here: http://www.thepinkshoelaces.com/gannon-update-genetics/ Read that and then come back if you are confused.

I knew we would be going down to Iowa City for his urology appointment and they told us that the second round of genetic testing would require Craig and I to get blood drawn in Iowa City. I figured that maybe we could get that process started and our blood drawn while we were in town.

So like they said, the testing will take 4-6 weeks so I wasn’t expecting to hear back until the next week at the earliest but we were also encouraged to call and ask with questions. So I called on Tuesday to see if we could start the second round of testing and get our blood drawn. She never got back to me so I just brushed it off.

When on the way home from Iowa City, she finally returns my call. She looks up Gannons chart and LO AND BEHOLD – Gannon’s first round of genetic testing has been back for awhile now and nobody called us to tell us. So she goes through the results:

Gannon has minor duplications of a gene on Chromosome 4 and Chromosome 16 that have undetermined significance. Essentially, yeah there is something different but probably benign and is not known to cause syndromes in humans. He is also negative for Fragile X syndrome.

So now we move on to the next round of testing which likely could have been on Wednesday when we were in Iowa City. UGH! I am waiting to hear back on when that will be and should be getting a call today. I’m pretty frustrated and wonder how long the results have been sitting there. I learned my lesson – CALL MORE!

And last but not least, Gannon has a speech therapy evaluation/appointment today at 8. We sat down and really thought about all of the words Gannon has – Da, Ba, Hi, Bye, and just recently figured out no. So at 18 months he is a little behind. They always say “catch it early!” and “intervene early” but when I had concerns about his speech at 12 months they told me it was way too soon and to maybe consider reevaluating at 18 months so now we are here at 18 months and I’m pushing it.

In the meantime, he is rocking the sign language!

Sometimes I forget he has a speech delay because his ability to communicate is so great.

Check out this video!

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4 thoughts on “Gannon Update – Genetics Results and Appointment Week!

  1. Ellie says:

    Bless you and Craig and sweet Gannon! He is such a darling loving boy! It’s a shame you have to push so hard to get the services and treatment he needs. If he had less involved parents he might not get the help he needs. You are terrific parents to make the kind of efforts to be so alert to his milestones and ready to do whatever is necessary.

  2. Elle says:

    what a sweet sweet happy boy you have! And he’s got a super special Mom to advocate for him to be his best self! You go girl!

    Happy Friday and hugs to you.

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