Mid-Year Update

Hello team!  As we start to prepare for our third surgery, I wanted to stop in for a quick update.  But first, a little bit about our sweet girl!  We finished out a wonderful school year at the Rise School of Austin and have been having the BEST summer.

Lots of afternoon swimming, play dates, and lazy mornings!  She is talking up a storm, LOVES to sing and dance, likes crafting, swimming, helping feed the chickens and bunnies, and snuggling!  Recently we transitioned her to a big girl bed and while she loves taking naps in it, I may have got her hooked on "mama's bed" at night when dad was out of town. Oops!

Back in March after having her 9th ear infection in a year, we finally got the go ahead to get ear tubes put in and her adenoids out.  At this point, we left her tonsils in but due to their size, they'll likely come out within a year or so.  His goal was to grow her a little bit more.  Just last week she hit 22 pounds!!  Pretty excited about that :)

In April, we met with a new geneticist in Houston that basically wrote the book on Goltz Syndrome.  He has seen 57 of the roughly 250 reported cases of Goltz, so I'd say we were in good company. He actually doesn't even see patients anymore but I e-mailed him (thank you to one of the Neos I work with for hooking me up!) and he said he would love to see us!  It was SO nice to meet with someone who was familiar with her syndrome and I could ask ALL my questions.  We didn't necessarily learn anything new that we didn't already know, but it was nice to have someone confirm certain things for me.  One of the most predominant findings with those with Goltz is skin issues, which Sawyer hasn't shown.  And a question I've had since her diagnosis is whether she will develop those skin issues or if they're usually present at birth and progress from there?  He found it very peculiar that she didn't have any of these manifestations and didn't think she would develop them.  Sawyer gets sick pretty frequently (i.e. 9 ear infections in a year) and I asked if it was due to low immunity or something else, and he actually said it was more of a structural issue.  Due to the small size of ear canals, largeness of tonsils, incidence of reflux, etc, it was more difficult for things to drain properly thus making it more likely for infections.   He also touched on her leg length discrepancy and discussed a procedure that may be in our future, involving putting screws in one growth plate to prevent bone growth for a while so the other leg could catch up. :(  I asked if he could tell me more about her specific mutation and if there were any other cases with her exact mutation.  There are not.  We found one similar to hers, but not exactly.  She is a rare bird indeed!

Next, I finally found someone new to see for her eyes.  Our last ophthalmologist that we loved ended up leaving the practice and moving away and I had a hard time finding someone to replace him!  We actually ended up seeing an Optometrist who surprisingly had some experience with Goltz patients.  She was WONDERFUL!!  Sawyer absolutely loved her, they were able to test her vision, and we got some cute new glasses.  Her left eye has 20/40 vision and her right eye (with the coloboma) has 20/600----meaning what most people can see from 600 feet away, Sawyer has to be 20 feet from in order to see.  While her new glasses do have a prescription, their main goal is protection.  It would be devastating if anything happened to her left eye and she was left with just her right for vision, so they are essentially just a protective barrier.  Unfortunately she won't keep them on...still working on that.

I still need to make appointments with the orthopedic surgeon that we see for her feet, as well as the nephrologist, but we are just taking our time.  Oh and we went to the dentist again and her teeth are amazing! They said she had some of the cleanest teeth they'd ever seen in a 2 year old!

Okay so last we talked, Sawyer had just had her second surgery on her right hand and was on the mend.  I ended that post with concern that the surgery had not been quite as successful as we would have hoped.  Once we went back for our 4 week post op check up, without me even saying anything, her surgeon walked in, noticed and addressed our concerns.  While he was able to successfully straighten the bone of the 2nd digit of her right hand, there is still some tendon and ligament reconstruction to be done.  I've included some hand drawn pictures that I hope will help in explaining what this surgery will consist of.  So your hand has tendons that run along the inside of each finger and ligaments that are like little bands that secure it into place and together they help your fingers bend.

While he isn't certain, his suspicion is that her thumb and index finger tendons are fused together (which would make sense since those three fingers were fused at birth), so when she bends her thumb, the index finger has no choice but to bend with it which locks it over the thumb.  So that part of the surgery will be exploratory to see what's going on with those tendons and reconstruct from there.  Hopefully, they are fused and he will just need to separate them and connect the 2nd digit tend to the 3rd and 4th. Hopefully. Next, his plan is to graft a tendon from her left foot and use it as a ligament to figure-8 around the base of the metacarpals to pull them together and close the cleft.  This was a difficult thing to work out because she actually doesn't have many spare tendons in her feet due to the absence of multiple bones, but we think we've worked it out.

When we met with him a few days ago he reminded me that this would be a very long and intricate surgery so to be patient.  The last surgery was 2 hours and we felt like it was a breeze, this one will probably be in the 4-6 hour range again like her first.  After that it will be another 6 weeks of casting.  Of course we don't want this for her and continue to question whether or not more surgeries are in her best interest, but the ultimate goal is for her to be able to grip things----a monkey bar, a bicycle handle, eventually a steering wheel.  Right now she has great function with her cleft but has to contort her wrist certain ways to hold things.  Thankfully we all LOVE her surgeon and we are so thankful to have him on our team.  Even Sawyer gets excited to see him now and wants to give him stickers and high fives and knocks.  I've been trying to think of the best way to say thank you to him and what to get him....any thoughts?  Right now I'm working on a photo book of before and after for him and multiple family members are writing him letters.   This man works miracles and we want him to know how much he means to us.  Let me know what you think.

Surgery is set for August 23, if you follow me on Facebook or Instagram, you'll see my posts but in the meantime, keep our girl in your prayers, as well as her doctor and medical team.  I'll post again soon after her surgery!

XOXO