I’m typing this in between snarfing down breakfast. Rule #1 of having a kid in the hospital is eat what you can, when you can, as much as you can because you don’t know when/if/where your next meal is coming from. Yesterday I realized I didn’t drink any water – AT ALL. It can be hard to prioritize your own needs when your kid is sick.
We’ve had a busy morning. Overnight went GREAT – We only woke up at 4 am for a change/vitals so we are feeling well rested.
A neuro PA came and assessed Gannon before clinic – she wanted to know any possible concern or question we’ve ever had about Gannon since I was pregnant with him. And I happen to be an expert on that topic.
She agrees: way low muscle tone and LOOSE. She feels like his shoulders aren’t symmetrical- she again validated all concerns that I’ve had and brought up. She says they are all very subtle but all over are concerning – the next step neuro wise is lab work and the MRI of brain and spine and possibly genetic testing.
Then we got the results of the motility study and *drum roll please* Gannon has a problem with his anus! I’m still waiting to hear back on an official name of the diagnosis but essentially there is an internal sphincter and external sphincter that have to work together to pass stool. The external anus is just fine – the internal sphincter does not relax. It’s like trying to push poop through a closed locked door. This is NOT anal stenosis like we were first diagnosed with – this is NOT something that can be treated with anal dilation like Mayo and U of I told us – he needs to be sedated and get a Botox injection into his bum to help the sphincter relax. This condition causes painful defication and chronic constipation! Otherwise the motility study was just fine which I’m so thankful for because motility conditions have no cure – just treatment. We have a diagnosis, they found a problem, now we have a treatment plan.
But that’s not all, Dr. Sood emphasizes that the lack of abdominal muscles and generalized low muscle tone is contributing to his chronic constipation.
They are concerned that Gannon has something more wrong with him. Here are a few points I’d like to share:
- Gannon May have Ehlers Danlos Syndrome – a connective tissue disorder. Ever seen someone with that crazy super stretchy skin? There’s much more to it than that but it’s a concern that causes low muscle tone and very loose joints. There are many different kinds of it. I have two cousins with a form of Ehlers Danlos syndrome. It can be genetic but also 30% of people with Ehlers Danlos syndrome have it but do not have the genetic mutation.
- They still aren’t entirely sure that Gannon doesn’t have a variant of Prune Belly Syndrome. The three hallmark symptoms of this are lack of/extremely thin abdominal muscles, enlarged bladder, and I descended testicles – mostly result in malformations/problems of urinary tract. This was my first diagnosis I Dr. Googled for Gannon back in August. U of I And Mayo both told me that he doesn’t have it because his belly isn’t wrinkly enough and he hasn’t had a UTI.
- The neuro PA who evaluated him does not think it is Ehlers Danlos because he has SUCH low muscle tone – more than you’d expect with Ehlers Danlos – she thinks we will find something on the MRI.
So that’s the update. We don’t know/think we will be released today. Gannon did not have another episode of croup but he will be Sedated again today so we will see how that goes.
Also – is it weird to talk about my sons anus to thousands (yes – thousands – over 2,000 people read my blog yesterday) of people? No. In our house your butt is the same significance of your elbow. We use proper terminology to describe body parts, we have an open dialogue with Carver about body parts and plan to continue that way. I have an awesome resource/page I follow on Facebook I’ll link below which emphasizes the need to start this kind of open dialogue with kids from the start. I sometimes think I missed my calling as a sex education teacher!
Also, while I snuck to breakfast the nurses got Gannon to sleep for me by rocking him in the stroller and playing blippi ❤️❤️
Link to sex positive parenting resources: https://www.facebook.com/sexpositivefamilies/
Link to blog post about sharing “embarrassing” diagnoses/symptoms: http://www.thepinkshoelaces.com/this-may-be-awkward/
Link to most previous blog posts:
- The PERFECT Lightweight Tee!
- May 2023 – Quilter and Cross Stitch Tee Launch!
- The Text Message
- Family Pictures!
- Bike Adventures – April 2023!
So glad you are being heard and there is a plan to help Gannon. Hang in there, you’re doing great
I pray you get an answer to what’s going on with Gannon at that facility. You’ve been trying so hard to get a diagnosis for him to get him appropriate treatments. I really hope they can figure it all out and do something for him that will make a significant difference. I’m sad that it’s taken nearly 15 months to find health care professionals that care enough to work hard to tie everything together and find an answer. It shouldn’t be that way. I’m glad you found them.
My daughter has always used the correct terminology for sexual organs and the first time I heard them ask a question and use the word penis I was shocked but I’m used to it now . I think it’s great if I said hi silly he would correct me and say it’s my penis ? I’m so glad that at last you are hopefully getting answers xx
I grew up the daughter of a baby nurse. My sister is a nurse who does patient care coordination and has a 4 yo and 10 mo. I totally understand they way you talk. It makes sense. And as a teacher when kids are taught cutie words how can you ever know what they mean. Elementary kids are hard enough to deal with.
I had a kid with no pelvic openings. No concern about words with this reader! You preach and advocate and vent all you need to.
So glad you are being listened to and that there is a diagnosis! Hugs and prayers still coming for both of you!❤️
YEA!!!!! For one answer that has a known treatment. It will be interesting to see how his body responds to the Botox and how long it takes to be effective for Gannon. Sounds like your Neuro PA is on top of this. I’m sure I’m not nearly as anxious you are for the MRI completion/analysis.
An aside:
It is amazing the medical applications for Botox. My younger sister has Meige Syndrome-severe and gets 42 injections every 13 weeks. Near the end of the cycle she can literally not keep her eyes open-has to hold them open to read.
Fingers crossed for answers and a treatment plan!
The news is getting better and better. There’s actually a light at the end of the tunnel! So very happy for you that things are progressing as well as they are.
Love and (continuing) prayers for all of you!
Hang in there Momma!
It is such a blessing to find a medical professional who LISTENS!!! So glad she’s on your team!! Glad you have one problem sorted with his anus…honestly, you are giving me a great education in body parts that I have never studied in depth so far. Hope they can find the reason for the low muscle tone soon and that it will be something that can be fixed!
My grandson was a premier and was born with a bemy penis, like the letter L,. He had surgery to fix it when about 18 months. I wondered what people did 109 yrs ago. My Gdd weighed 17 ounces at birth and spent 4 months in Nicu. And yes that is ounces. She just graduated from HS. So they do survive.
WELL….!!!! you must be so happy to have a diagnosis and a plan for the constipation.
So happy you are making progress! It sounds as if the right team is finally listening to you. Your language and subject are appropriate for the circumstance. You are educating many of us which could be helpful to some other child. Stay Kramer Strong.
So glad you found drs who can help. Prayers for healing and strength.