(A long) Gannon Update:
We had a follow up appointment with genetics this morning. We scheduled today’s appointment last January. At the time it was their soonest available appointment. To say this appointment was highly anticipated would be an understatement.
I was headed into this appointment with one goal in mind: confirm a VACTERL syndrome diagnosis. Gannon was born with a myriad of birth defects, most are incidental findings, most don’t cause symptoms but added together, Gannon has some kind of defect of each system that would indicate a VACTERL syndrome diagnosis.
All of the specialists we’ve seen have told us: Genetics is the only one who can diagnose this. We put all of our eggs into this basket of a VACTERL diagnosis with genetics today.
And we didn’t get that.
First off, the appointment got off on the WRONG foot. The geneticist didn’t even know Gannon was hospitalized in December or why despite the fact I spent 45 minutes on the phone with the genetic counselor yesterday going over the past two years since he’s been seen. I felt like yelling “DID YOU EVEN OPEN HIS CHART?”
From there, he assessed Gannon, we talked some more and he said he would not diagnose Gannon with VACTERL. He thinks Gannon has something more.
Yes, VACTERL describes MOST of Gannon’s anomalies but not all of them. It doesn’t explain his hypermobility, his laxity, his loose skin, his complications with surgeries, his sleep apnea, his chronic croup etc. He said he would be doing a disservice to Gannon if we stopped at VACTERL. The case would be closed, the investigation would be over if we diagnosed him today.
So what now, he believes Gannon has something, he believes it can be explained. When we first got genetic testing done in 2020, there were 7,000 ish rare diseases. Just in 3 years there are now over 10,000. Since 2020 there is an entire layer of genetic testing that is now available to Gannon. Maybe there are other kids who can get help or a diagnosis by learning from Gan. Therefore Gannon is being referred on to: drum roll please
The Undiagnosed Disease Clinic (yes, that’s really what it is called) at U of I.
He will under go a skin biopsy, extensive eye exams, and his genetics will be resubmitted and re-examined. There is a gene that came from Craig that may be causing some of his issues. This will all be determined by the clinic.
Other specialists we have lined up include a sleep study in April (because he STILL is having sleep apnea), and the aerodigestive clinic in June – they will hopefully identify the cause of his “lax floppy” airway.
So that’s our Gan. Our 4 years of searching for answers is far from over. I’m disappointed but also, they have some pretty good reasoning to keep searching for answers. There’s something more to find.
Hang in there. It’s better to find out the 100% reason than the ‘maybe’ reason. He sure is a cute little boy and his smile is just beautiful.
My heart hurts for your and Gannon’s troubles. I am an old lady, but over my life, I have had a number of health challenges. Some have been “identified”, and some have not. No one has a unfied theory of why I show up with uncommon and rare problems. I just finished a round of tests for a new problem that occured this year and was thought maybe could provide insights into why this happens. However, it only resulted in a description of the MRI and no rational for the uncommon features. I so well understand that feeling of didn’t you read the chart and where does this go. I just had to say stay strong and don’t give up. The last thing is something that it took me a long time to learn. Even if they never figure out why this is happening (and at my age it is likely they will never find an answer for me), this is your life. Don’t forget to live it, to celebrate the good times, to love each other and to have faith in tomorrow. It is hard some days, but worth it. It is OK with me if you don’t post this on your blog because I am not sure some people would understand why I wrote it. I just want to encourage you and I only mentioned my own issues so that you would know that you are not alone. I wish that I could give you a hug.
Not the news you wanted but glad that another door has opened
Sorry to hear Gannon didn’t get the diagnosis expected, but at least the doctors are still working on finding out what it is. You’ve got one heck of a tough kid there! He’s got such a lovely smile. I hope you don’t have to wait too long for the next appointments. Sending much love to you all.
I just want to tell you that I believe Gannon was born into the exact perfect family. You all love him so much and offer each other so much support. I pray you get the answers you’re searching for. Blessings
Gannon is so lucky to have parents that fight for him. Hope you find some answers soon.
Poor Gannon and you. Lucky for him that his mom is a smart nurse that knows how to deal with the healthcare system. What was that foolish doc thinking to not read the info he had. I want to yell at him too. Wishing you all the best in figuring out what the issue is.
Kalissa, Craig and Gannon,
As much as you don’t have answers yet, so thankful the medical community is willing to research and try to come up with some. God bless your family. There are lots of people you don’t know on the sidelines cheering you on!
I’ve said it before I SHOUT it again….. Gannon is sooooooo lucky YOU are his Mom. He has a strong advocate, attentive to detail. I’m sorry you don’t have answers but grateful this person didn’t call a diagnosis with an incomplete summary.
Hugs to you, Craig and the kids.
Holding you all in my heart, hoping for some answers and solutions!
It is so hard to imagine such a little guy having so many different ailments. You and Craig are such wonderful parents and take such good loving care of him and his brothers. I’m sure you will keep us posted to all that you find out about him. Prayers for you and your family.
The Undiagnosed Disease Network is a fantastic resource. Glad you have access. They have helped so many families.
Well, THAT was unexpected!! Best of luck getting to the root of Gannon’s trouble, Kalissa.
What a whirlwild, but hopefully you will get an answer. I will continue to keep your family in my prayers.
Continued prayers for you all.
As disappointing (frustrating, rude and just GRRRRR) as it is to have a doctor who doesn’t read charts and you not getting the diagnosis the you were looking for, I’m so glad the doctor isn’t willing to say “This is it”, but willing to push forward to figuring out what is the base cause of all of Gannon’s issues. How the science of genetics has progressed in just 3 years!! Amazing! Can the gene from Craig be tested for in Carver and Anders, to see if they are carriers and can pass it on to their kids? Did that gene from Craig need to be paired with a gene from you to give you Gannon’s problems? Genetics is so fascinating to me…gene K meets gene W, and they are reinforced by gene D and here you go!! Sorry Anders is also having ear infections at this time…just sucks!!
sorry you will not have answers since it means more discomfort for Gannon and all the anxiety parents have with this sort of challenge.
BUt as a reader of Gramdma Jieys blog that beautiful little guy has touched so many of our hearts. Prayers from us for not only Gannon but your family as you go through this joirney.
I had a son with VACTERL (very serious – died after 35 minutes of life) (had all the letters but TE) and trying to get people to understand VACTERL is ROUGH. Why couldn’t it be something like VACTERL and EDS put together?
I hear you! Keep fighting for Gannon!