“It’s so Austin…” I heard that sentence a lot the weekend of July 27-29. I inferred it to mean several different things- odd, wacky, unique. The hotel elevator has to use your room key to unlock the button so you can go up a floor, and it had no rhyme or reason if it was going to go up or down… It’s so Austin! The doughnut shop around the corner, Voodoo Doughnuts (brought to all of our attention by Mac Cafferty), where you can buy a cereal topped doughnut or one shaped like a voodoo doll… It’s so Austin! The local zoo that only houses rescue animals and its very offbeat and rustic landscape… It’s so Austin! So it seemed fitting that our odd, wacky, and unique CCDS Family was all congregated together in this town known for the odd, wacky, and unique. This is how our “family reunion” of sorts went down for the Alveys.
First off, I need to mention how incredibly blessed we were by the Thisbe and Noah Scott Foundation to fund our travel expenses to the conference so we could meet everyone and learn about our children’s conditions. Lindsay and I have emailed several times and she is literally one of the sweetest people! I don’t know how I missed her at the conference but I am very sad to not get the chance to say thank you to her face! If you need an organization (besides our own of course!) to donate to, I would highly, highly recommend this foundation. Besides my family, they funded 8 other families to attend the symposium. How amazing! But our trip wasn’t all rainbows and happiness…
If you are on the facebook page then you know… WE MISSED OUR FLIGHT! We were 5 minutes late to check in and were placed on standby. At first, it looked like we were going to have to go to Orlando to Houston to Dallas then finally to Austin… You guys have to understand my anxiety level here. Stranded in an airport all day with a CTD kid. I finally broke down to one of the poor Southwest employees and explained the situation, next thing I knew we were leaving Nashville to Dallas then to Austin. So thank you to the lovely young man who didn’t know what to do with a special needs mom and nervously found additional help to find me a flight to get us to Austin relatively easy! If only that was the only time I got emotional this trip!
As soon as we walked into the hotel I heard “Shelly?” it was HEIDI!! I don’t hug, I have a very personal bubble people do not enter… But I embraced this woman without hesitation! Heidi was the very first person to talk to me about Lilah’s CTD who wasn’t clueless about it. She was the very first “Mom Friend” who helped me in this journey. I will forever be thankful to this woman and if she wanted a hug, by goodness gracious I was going to give her a hug! That afternoon I met Whitnie and Melissa, and goodness it was like I knew them my whole life! Poor Melissa!!! I’m sure I wore her out just by asking all my questions! It’s not every day you get to meet an experienced CTD mom.
The next day was breakfast, taking Lilah to KidSpark Camp (which was WONDERFUL), then listening to a full day of speakers. For me personally, it was overwhelming… But in a good way. I was full of new knowledge and understanding, and since I have a medical background, I was in 7th heaven!! My husband Tyler had a very different reaction. He was overwhelmed in a very negative way. For him, this conference made Lilah’s CTD real, and he also saw what a good possibility of her future is. This weekend is when his grieving stage actually began. You know that stage when you grieve what should-have could-have-been. So after lunch, Tyler was pretty absent to the public eye. When he and I talked, it had me on an emotional edge. For those of you present at the conference I’m sure you know when I got too close to my edge, for those who didn’t I’ll fill you in.
We received our diagnosis from Norton Children’s. Lilah had the “Golden Ticket Test”, the full genome sequencing that showed the mutation of her SLC6A8 gene with a K19T variant. She also is symptomatic in being delayed with gross motor skills, hypotonic, and tremors in the hands and feet. So in Norton’s eyes, genetic proof plus symptoms equal CTD diagnosis. However, when we transferred to Cincinnati Children’s talk came about that maybe we had jumped to that diagnosis too soon. During one of the open question sessions, I asked why the discrepancy in geneticist reasoning. Questions were asked about my daughter’s medical history and the topic of an MRS came up. Before I was aware, word vomit had occurred and I pretty much spilled out that we were tapped out financially and insurance wouldn’t cover it and that no one was willing to really help because she was a girl. (Most studies… well all.. are for boys only. More to come on that later, possibly.) So personally, this was the aspect in our journey I kinda felt alone. There are not very many girls with CTD that show symptoms. I’m pretty private so I don’t really share our financial struggles and was quite embarrassed with my outburst of some of my deepest most private struggles and thoughts. But you know what happens when you let your family know that you are struggling? They come to your rescue. In our family’s case, they run and drag people behind them!
This is how I felt when Guy Bogar (a man who had never even known I existed before) practically dragged Dr. Bianconi to where I was in the hallway before dinner. He wanted to personally make sure that this particular doctor who wanted to help me, found me and connected with me. Mr. Bogar also has a daughter and grandson with CTD; I’m sure something about a mother asking or pleading for help for her daughter resonated with him. Thank you so much, Guy! I love your family more than I can explain. I had two doctors confront me about helping with our particular case- Dr. Cecil and Dr. Bianconi. My family is extremely grateful for both. I hope our future blogs can be about our journey with one of these doctors.
I also would love to thank all the other mothers who can resonate with me and our daily battle with insurance. It’s definitely a frustrating battle, but one we would fight any day for our kiddos. Thanks to the mothers who had empathy toward our situation. Hana Young if I could pack up and live with you, I most certainly would! Haha. Your sweet girl and rambunctious boy were definitely some of my favorites to learn about. Erin Coller huge thank you for putting yourself out there and asking if anyone would pray with you! It was one of the best moments to sit with another mother whom I had never met before and enjoy a private second with God. I love your passion and courage you have in your faith! Please continue to remember me in your prayers because I can assure you my faith is nowhere near as strong as yours.
So pretty much what I can take away from my experience is, don’t let yourself struggle. This family we are a part of is too strong and too determined to let one of us fall behind. If you’re feeling alone, I assure you that you are not. One of us, or several of us, are going or have gone through the exact same thing or feeling. I promise. Don’t ever worry that you might be too odd, wacky, or unique to join our family! It just means you fit right with our “It’s so Austin” CCDS way of life!