Sawyer is THREE!

Oh my goodness, I don't even know where to begin.  I have multiple updates from her doctors but first, Sawyer is THREE!!! I feel like I blinked and it was her birthday again.  Our sweet little 3 pound baby has grown into an even sweeter 23 pound little girl (with some sass for good measure).

About this three year old.  She has music in her soul and 99% of the time is singing some sweet little tune with accompanying dance routine.  She pours her little heart into her songs with such emotion!  Lately her favorite tunes have been any song from Trolls, "Hey Brother" by Avicci, any song from Moana, and oddly the Happy Birthday song.  With music, also comes her love for DANCE PARTIES.  Ryan and I have burned quite a few calories with our daily Trolls dance parties, so what can I say, she keeps us fit.

Sawyer loves....

•  any and all animals---her chickens, other people's goats, dogs, and cats if she can chase one down
• swimming, playing in water
• painting
• exploring her surroundings
• play dates with her friends
• playing doctor (or nurse) 
• cooking in her kitchen
• tea parties
• sleeping in "mama's bed"

We had our very first big birthday party to celebrate and it was so much fun! Then a few days later was Halloween and our first time Trick or Treating---she's a pro!  While she's happy the majority of the time, I feel like we're finally getting into the tantrum stage and goodness.  Terrible two's is a myth,  things didn't get real until we got close to three.  Like I said though, most of the time she's an angel and so fun to be around.  :)  And now it's our FAVORITE time of year so bring on all the holiday festivities!!

And now a few quick updates after her last surgery and recent appointments.  So last we talked, we were going in to Sawyer's third hand surgery.  If you need a recap of the original plan, you can go here to read about it.  Day of surgery went very smoothly.  We had a wonderful anesthesiologist, by far our favorite yet.  Then we had our favorite surgical Liaison, Donald, who gives updates and who was there for her other two surgeries.  And, of course, Dr Netscher, who even let me sneak in a picture of him before surgery.  Same drill, they gave Sawyer Versed prior to taking her back...evidently her chart had in red and bolded "severe anxiety."  Ha!  That's okay. Makes everything a little bit easier for all of us.

Surgery lasted about 4 1/2 hours but went as best we could have hoped.  What we had expected was true, her 1st and 2nd digit tendons were fused together so he separated those so each could function independently.   Then he was able to use an extra tendon from her hand (probably what once went to her previous 2nd digit that was removed) to wrap around her 2nd and 3rd digit to close the cleft vs having to graft one from her foot.  YAY!  Here are a few pictures of her hand in the OR---I'm the weird mom who asked for these when he was showing them to us post-op.  He is an artist though, no doubt.

Recovery was a little more difficult this time around than the last time.  We were amazed by how quickly she bounced back in January post-op and how easily her pain was controlled.  This time, she was much more uncomfortable and needed stronger pain meds for longer and to help her sleep.  Thankfully, a few days after her surgery, our good friends came to stay with us and they were a wonderful distraction for her!

Six weeks later, her cast came off and here's what her hand looked like.  The scars are intense and brought me to tears at first, but overall her hand looks wonderful.  At this point, she is able to move her 2nd digit better but still has gone back to using her thumb and 3rd finger like before--muscle memory.  We may have to do some occupational therapy in order for her to really start using her thumb and index.  We tried taping the 2nd and 3rd together to see if that would help, but then she just used her left hand for things instead.  We go back to see Dr Netscher in a few weeks and we'll discuss it then!

Next!  We finally met with a Nephrologist to discuss Sawyer's pelvic kidney and kidney function.  We LOVE her!  So excited to find someone that fits our team perfectly on the first try! She had some concern about Sawyer's higher than average blood pressures (which can be associated with kidney function),  so ordered a kidney functional panel for blood work and another ultrasound.  Blood work was all within normal limits.  Her ultrasound showed an enlarged left kidney (which is her normal kidney), echogenicity (potential damage) on right kidney (pelvic), as well as some pelvic dilation (hydronephrosis). Likely the enlargement is due to her good kidney having to work a little harder, but there was some concern for the dilation and echogenecity so she recommended a VCUG to test for kidney reflux.  This was another outpatient procedure and they were able to consciously sedate her, then inserted a catheter, filled her bladder with dye, then took multiple X-rays to see where the fluid went and if she was able to empty her bladder fully.  Good news, all normal!!  Whew! So we'll just continue to monitor her blood pressures and follow up again with the nephrologist in a year.

Next week is her orthopedic visit for her feet, but lastly our yearly check up with her pediatrician.  Sawyer weighed 23.2 pounds fully clothed, which is about a 4 pound weight gain for the year.  While Sawyer is thriving, her pediatrician was concerned that Sawyer completely dropped off her growth curve and was not on any curve.  While we most likely can attribute this to her syndrome, there are still so many unknowns about why these kids are so small, that we decided to go ahead and test her thyroid, growth hormone levels, and iron levels.  If anything, it will at least give us a peace of mind and help rule some things out.  Sawyer loves to eat and is pretty much snacking all day, but she doesn't eat a ton in one sitting and has a crazy metabolism.  Within the next few weeks, we'll be taking her to have her blood drawn for all those tests and I'll keep you updated.

In the meantime,  thank you all so much for continuing to follow our journey.  It has been a wild and busy three years, but she is worth it all!  She really is such a joy and we love her so.  It's hard to believe that three years ago I wrote my first post on this blog.  We were overwhelmed and broken and reading it now, I wish I could have told myself then, it's all going to be okay.  Sawyer brings out the best in everyone she meets and her brave soul is so inspiring.  We love our team that we've built and how much you love her!  Thank you, again and Happy Birthday, Sawyer!

XOXO

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

Sawyer's 2nd Surgery

We made it!!! Six weeks has flown by in the best way possible! Sawyer has already had her 2nd surgery on her right hand, had her arm in a cast for 6 weeks, and just had it taken off and let me just say, this experience was night and day from our last surgical experience.  Granted this time around, she's a "big" two year old, there was less bone sawing, no skin grafts needed, and only ONE hand in a cast---phew!  We are simply over the moon excited to have this behind us and eager to see how she takes to her new configuration.  She isn't slowed down by much, so I have no doubt that in good time she'll be using her little fingers just as we hoped! But let's start at the beginning and I'll tell you how it all went down.

Like last time, we drove down to Houston the day before and stayed in the same hotel right by the hospital.  We visited friends, had a nice dinner, and were all in bed by 8.  Surgery was scheduled for 7:30 the next morning with a 6am arrival time.  Things went so smoothly.  We checked in, completed registration and intake assessment, then in no time at all they were escorting us to pre-op where we met with each person who would be present during her surgery.  The anesthesiologist was wonderful, very personable, chatted with us about our last experience, had already read about how many IV attempts it took, and asked if she would benefit from being given Versed prior to them taking her away from us to decrease separation anxiety.  I'm all about making sure she's comfortable so we said absolutely, but just to confirm that it would help, they had a child life specialist come and assess Sawyer and do a "practice run" of them taking her away to play to see how she would do.  Long story short, she got Versed.  I wish I had taken a video because she was the goofiest, giggly girl after it and I can only imagine she was seeing rainbows and butterflies above our heads.

After that, the surgical room liaison came to introduce himself---his job is to go from OR to OR and check on the procedures then update the family in the waiting room.  Best surprise ever, it was Donald, who was our same liaison from last year!  It took us a minute to figure out how we knew him and when we made the connection, he said he had already recognized us and had walked through the waiting room and saw that we brought the grandparent team with us again.  It was very comforting to see a friendly and cheerful face and we were so glad he was there that day!

Then the man of the hour came by (surgeon), did a brief run through of what his plan was, complication risks, initialed her arm, high five and knucks with Sawyer then they took her away.  While I felt very comfortable with Sawyer in his care and his team, no matter how much you  mentally prepare, it's still so hard to watch them walk away with your baby and know what's in store for her. A few tears and lots of hugs and we went back to meet our parents in the waiting room.

They took her back at 7:30, general anesthesia started at 8 (YAY OR nurse for being a one stick wonder!), and we all went to the cafeteria to get some coffee and breakfast.  After discussions about chickens, goats, and This Is US, we headed back to the waiting room and Donald let us know that Dr N was almost finished!  He finished the last suture about 10:00, anesthesia stopped at 10:15, and they took us back to PACU at 10:30.  It's crazy, but the 3 hours flew by as opposed to our 7 hour wait last time!

In PACU, Sawyer still had her OPA device in her mouth and an oxygen mask on her face so she looked pitiful, but she wasn't whimpering or seeming like she was in pain.  Her surgeon met us in there and went over everything---went as well as we could hope for and he didn't have to use any of the worst case scenario options we discussed.  He was able to reconstruct the ligaments around the finger, rearrange some tissue to help close the cleft, and only had to shave a small piece of bone off the second metacarpal in order to straighten the second digit and align it.  In order to keep it straight,  he inserted two very long pins through the tip of the second digit, all the way through each of the little bones in her finger, through the metacarpal, and down to her wrist.  Long pins.  Not sure if he's necessarily a hugging doctor, but I gave him one anyways. :)

When Sawyer started to wake up, I held and she went right back to sleep.  Our PACU nurse was amazing and so nice to talk to.  He was great with Sawyer and with telling us what to expect.  Again, much better experience.  After she took some water and stayed awake a little longer, they discharged us and let us go!  We were out of there and back to the hotel by 12:30!  Rather than staying another night, we opted to go ahead and make the drive back home since she would likely sleep the whole day anyway and at least we'd get better sleep.

The next few days were a dream.  She took her pain medicine every 4-6 hours, slept through the night, ate and drank fine, and her usual cheerful self!  She occasionally asked for us to take the cast off, but she really liked her pretty cast covers, affectionately named her "little thumb" peeping through the cast, and took no time at all to adjusting to her club.

School was a wonderful distraction and her teachers were equally as great at keeping an eye on her and staying on top of pain.  And not to be boring, but that's it!  No tearful stories of sleepless nights and despair and a child in pain.  This girl ROCKED it and we are SO proud of her!

We went back to Houston around 4 weeks just for a quick checkup and he gave us the option to remove the pins in the office with nothing more than her tylenol + hydrocodone on board (no, thank you) or his preference, to remove them as an outpatient "surgical" procedure at TCH where they would do conscious sedation.  Since our last cast/pin removal was a little traumatic for us all and we've pretty much already met our out of pocket maximum for the year (yay?), we opted for the sedation!  Similar to our other mornings, had to be there bright and early for a 7:30 procedure time.  For a kid who wasn't allowed to eat or drink anything, she was a doll.  Played with toys all morning, smiled and waved to the doctors, went to the nurse without needing Versed, talked their ears off all the way to the OR, went to sleep easily, and done!  Rather than starting an IV, they just used the sleepy medicine in the gas to get her to sleep, then gave her intranasal fentanyl and a shot of Toradol. From start to finish, it all took about 45 minutes!

She was a little disoriented and fussy waking up, but once we were discharged we got in the car and she fell right to sleep.  After a long nap she woke up STARVING and ready to show off her hand.  The hand and 2nd digit were super swollen and he told us to give it a little while before starting some at home PT to get the finger moving.  At first, everything looked great and we were super excited.  But now five days post cast removal, I'd be lying if I didn't say we're a little disheartened and disappointed.  Her surgeon said he was able to straighten the finger and reconstruct the ligaments and by adjusting things that way, thought he didn't need to remove extra skin from the clefted area. But now that she's moving her hand and fingers more, her tendency to open her hand in the same "V" way is still there.  YES, she can move that digit to midline now which she wasn't able to before and open the webspace between the thumb and 2nd digit, but more often than not, she still uses her little cleft for things.

So. Where does this leave us?  I'm trying not to stress too much about it and restraining myself from e-mailing him right away with my concerns.  Nothing we need to do immediately.  We go back in four weeks for a follow up and so we've just decided to let it heal and see how things go.  Maybe as she starts to use her hand more and strengthen that finger, things will naturally adjust?  We'll see.  Hoping putting her through another surgery isn't necessary, but y'all this girl is TOUGH.  She continues to amaze us with her resilience and we are so proud of our sweet little warrior.  And for some perspective, here are some before pictures of where we started! I can't believe the difference these two surgeries have made!

As always, thank you for your continued prayers for our family.  We LOVE our Team and are so thankful for you and your support!  I'll keep you updated in the next few weeks on her follow up with the surgeon and we've also got our round of specialists to start seeing again.  Looking forward to meeting a NEW geneticist that basically wrote the book (a short book...an article, really) on FDH, NEW ophthalmologist, NEW Nephrologist, and our same orthopedic specialist for her feet. ;)