Two Year Update

Hello friends!

It's hard to believe but it has been 6 months since my last update!  In truth, that's a good thing, because life has been great for us lately.  Around this time last year, Ryan and I made the decision to buy a few lots right outside of the city and build our dream home.  We were looking for little more outdoor space (and maybe some extra closet space, too) and most importantly wanted the perfect home to raise Sawyer and that needed to be on a little less busy of a street.  After quickly selling our home in March, we moved to my family's lake house for 8 months while we worked closely with a good friend to build our new home and now we are in it!  Not only did we have some moving changes, but Sawyer also started a new school and we are IN LOVE with it!  But let's start with the best part, an update on our girl!

Sawyer is now TWO years old!!! This big personality comes in the petite little 19 pound body and we just love every ounce of her.  She runs, she jumps, she tumbles, she climbs, she's a busy body.  She loves to sing---'twinkle twinkle', 'itsy-bitsy spider', and 'if you're happy and you know it' are the current favorites, complete with hand motions.  Sawyer still adores being outside and now we have a nice big yard for her to play in with her dog, Nelly.  She loves stuffed animals of all sizes and insists on sleeping with at least 4 of them each night.  She is saying so much and my favorite phrase is "where are you?" with a head tilt and palms up gesture.  Her favorite tv show is Daniel Tiger and also has a new found love for Little Bear.

Food-wise, she will almost always eat yogurt and applesauce without fail. Everything else, it depends on the day.  One meal, she'll love chicken and mac n cheese and broccoli, then won't touch it the next day.  That's toddler-hood though right?

And now, a little bit about her new school.  Last May after my 18 month post, I had multiple individuals contact me about The Rise School in just one week.  After reading about it online, Ryan and I decided to take a tour with Sawyer and immediately fell in love.  The Rise School is an inclusive preschool  that enrolls children ages 18 months-6 years of age and roughly 50% of the students are typically developing and 50% of the students have some sort of developmental delay/syndrome.  The teacher to student ratio is 3:1 and there is a speech therapist, occupational therapist, physical therapist, and music therapist on staff to evaluate and work with all children.  Every room in the school, including the classrooms, playgrounds, and library, is developmentally appropriate for the children, but the most AMAZING part of the school is the staff.  Each one of them is passionate about what they do and LOVE the kids.  I've been so impressed with how much she has learned just since starting in August and how much she enjoys going.  It's so cute to talk about all of her little friends and see their pictures each week.  Sawyer didn't necessarily have any delays requiring therapy, but what we liked about this school was their emphasis on inclusion and embracing differences.  Their motto is "where special kids shine."  Not only have we found a community where there are other families with children with differences, but other families who want and support their children being there.  It's a happy and safe place for us all.

This past week we went back down to Houston to visit with Sawyer's hand surgeon to discuss and schedule her next surgery.  First off, the appointment went SO well.  These appointments are always difficult because he only sees patients in his office starting around 4 after his surgeries, which usually means he doesn't walk through the door until closer to 5.  Commuting to downtown Houston isn't exactly fun during that time of day and waiting in a small waiting room for over an hour with a two year old isn't exactly fun either.  But once we got to see him, I couldn't believe how well Sawyer did. After her last surgery in July, Sawyer developed a fear of 1) elevators 2) doctor's offices 3) older men.  We've slowly but surely outgrown the elevators and office fear, but she still has some timidness with men.  Happy to say though that she smiled at him, let him touch her hands, let him take an x-ray, and even gave him a high-five at the end!  Definitely put my heart at ease.

Now for the details, we scheduled the surgery for January 25 and this will only be on her right hand this time.  Here's a picture of the x-ray of her right hand (yes, I was able to take a picture because he still prints out x-rays old school wise and puts them on a light board).

He will be closing the cleft and straightening the 2nd digit which basically involves reconstructing ligaments, slight reduction of 2nd metacarpal, and removal of extra skin where it's clefted.  Similar to last time, she will have a long metal pin placed through her 2nd digit for stabilization as everything heals during the casting process which will be a month.  Thankfully this time, she won't have to have any skin grafts taken from her groin area.  The surgeon did say that there is a possibility that he will have to take part of a ligament from her wrist to reconstruct the finger ligaments, but he won't know until he sees them.  Right now, her finger has been curved and stretched to the left side for so long, that the ligament that runs on the inner side of that finger, may have too much stretch to it and when he straightens it, still be too loose----that's where taking the ligament from her wrist will play in.  Hoping that's not the case though!

While we are not looking forward to another surgery and have once again grown to love and be accustomed to her hand being this way now, we know in the long run it's for the best.  At least this time it's not both arms and she's actually very good with using just her left hand.  She'll also have school which will be a great distraction for her and after her cast comes off, I'm so glad she'll have therapists who are able to work with her, if needed.

I'll stop back in after her surgery and keep you updated.  But in the meantime, we're just going to be soaking up all the holiday fun with our sweet and happy girl.  Thank you for being such an amazing Team and Merry Christmas!

love,
Team Sawyer

18 months old!

Sawyer is 18 months olds! Can you believe it?  THIS is by far my favorite age so far.  She is sassy in the best way possible, she is walking, practically running, saying over 20 words, and just growing up so much.

Her current favorite words are "uh-oh", "UP!" and "bite".  As soon as you walk in the kitchen and pull something out of the pantry or fridge, she comes at you with mouth open saying "bite. bite."  She has a tendency to purposefully throw things down then say "uh-oh"" and when she is in a hurry to get somewhere she comes to you and says "UP" then points in the direction she'd like you to go.

She loves brushing her teeth, but especially with my toothbrush. (Don't even know)  She loves climbing up the stairs, but would prefer a ride back down.  Still ADORES being outside and splashing in water.  And she LOVES her da-da! They have so much fun with each other these days! And Nelly...she's right up there with da-da. ;)

Now that she is becoming more assertive and going up to other kids, we have started getting questions---most often regarding her different eyes.  Kids are amazing in what they notice and innocently ask questions about.  So far, each child has been completely curious and not at all mean about anything.  A little boy at the play gym said "hey, why does she have one little eye and one big eye?"  And I just said that she was born with special eyes.  His response "Cool. I have two big eyes." And resumed playing.  Cool. 

Even parents have been great when their kids ask questions and just respond about how we're all different.  That works for me, too.  Usually adults are more curious about her hands and ask what happened, especially when they notice the scars.  I know there will be times when I won't feel so positive about certain interactions, but these first ones have given me hope.

Last time we left off was with Sawyer's diagnosis.  Since then I have continued to read every last available piece of information regarding this syndrome.  While I still have quite a few questions, despite my deliberation with e-mailing geneticists, I'm afraid those questions may not have answers at this time and we'll just continue on with the "wait and see" approach.  We did visit with a new geneticist at TCH (unfortunately our first left the practice) and while he was very kind, he wasn't very familiar with Focal Dermal Hypoplasia (FDH) and was not able to give me any more information than I already knew from just reading the literature.  We will go back in a year for a follow up, but next time be meeting with a different geneticist, who has a special interest in FDH and even completed a research study about it.  (And yes, I already e-mailed him with questions.)

Next, we followed up with her hand surgeon.  We've lucked out with getting one of his first appointments of the afternoon the past few times, so rather than wait 2 1/2 hours, we only had to wait 45 minutes last time!  He was so pleased with how her little hands had healed and how she was using them.  Originally he discussed needing a second surgery for both of her hands, however, we both agreed that holding off on her left hand was the best course of action.  At this point she is still not fully bending her left two fingers at the middle knuckle joint (likely do to tendon insertion), but since she is still so small and not growing very quickly, he thought it best to wait until she was older (and bigger) before trying to work with the tiny nerves and tendons again.

Her right hand does need surgery though to close the cleft and bring the 2nd and 3rd digit closer together, as well as straighten the 2nd digit.  I went into the appointment prepared to argue my case for waiting until next year to do surgery (thinking we were going to be doing one on both of her hands), he heard my case, I heard his, and we negotiated and settled on having the surgery done in the Fall.  So thankful for such a brilliant doctor who will actually listen to my concerns and be willing to meet me halfway.  We haven't scheduled this surgery yet but plan to go back in July to put it in the books. 

Moving on.  We met with the pediatric orthopedic specialist here in Austin for her feet this week and despite Sawyer melting down and trembling with fear, he was able to see her walking and had nothing but good things to say.  Her feet are functioning just as he hoped and he did not recommend any special inserts at this point, especially since she mainly wears soft soled moccasins.  We will just follow up again in 6 months.  Surgery on her right foot is not completely off the table, but likely not until closer to age 4. 

Next, we finally picked a dentist for Sawyer.  We had gone back and forth about male vs female, age, location, experience, etc, for months now (yes, we considered all of these factors), and finally chose someone not terribly far from where we'll be living in the future, personal experience with a child with differences, and I felt like would be willing to do the research necessary to treat Sawyer.  The majority of kids with FDH have some sort of dental issues, most commonly enamel defects that can more easily lead to cavities.  Our new dentist said her teeth actually looked wonderful.  Some of them are smaller than average and mild enamel hypoplasia, but honestly, nothing that he was concerned about right now.  We'll go back in 3 months for a preventative fluoride treatment then just continue to follow up like normal, every 6 months.  He said he was going to do research on her particular diagnosis and I asked if he would like the printed copy of the gene review I had brought (I'm that mom.) and he said yes and was appreciative.  I think he only thought I was a little crazy....

Finally! We had Sawyer's 18 month check up.  Little miss is 16 lbs 11.8 oz.  She's smaller than we all hoped...I really thought we might be pushing 17.5 or maybe even 18lbs, but sure enough, we're still in the 16 range.  While our pediatrician admitted that it was against her nature not to worry about such little growth in the last 6 months, she knew it was just part of Sawyer's condition.  She's just Sawyer! And she marches to the beat of her own drum.  Otherwise, cognitively and developmentally, Sawyer is doing AMAZING!!  Verbally she's saying more than is expected and physically she's right on track.  Afterwards we went to PTerry's to get her a milkshake to celebrate our little rockstar (and try to fatten her up).

This girl is absolutely amazing and I feel so lucky to be her mom.  Every day is a new adventure with her and I'm loving seeing this little girl become her own big personality.  Thank you for checking in!

love,
Team Sawyer

So we have a diagnosis.

Just wanted to stop by for a quick update regarding recent developments with Sawyer's genetic results.  But first, she is doing SO well.  We are in a walk, fall, crawl phase where she still finds crawling to be way more fast and efficient, but does her fair share of walking.  She is crazy and gets into everything.  Her new favorite word is "No" with a head shake and likes to give high fives and kisses and help unload the dishwasher.  And now for our results. :)

You may remember that back in September, Sawyer, Ryan, and I went to Texas Children's to have our blood drawn for a very thorough (and very costly) genetic test called the Whole Exome Sequencing Test.  This was basically the big daddy of all genetic tests and essentially the end all for roads we could take with testing.  They said to anticipate it taking up to 6 months to get the results, but less than 4 months later, they called with ours.

On Thursday, January 7, a genetic counselor called to let us know that Sawyer did in fact have a mutation on a particular gene which has been linked to a syndrome that would explain Sawyer's differences.  Sawyer has a mutation on the PORCN gene.  The mutation was random and not inherited from me or Ryan.  They think this gene is responsible for the release of particular proteins that signal development during the early embryonic stage.  We're talking 4-5 weeks gestation.  Because of this mutation, the signals for proper development are disrupted causing certain things to develop incompletely.  In Sawyer's case, her hands and feet, her right eye, her right kidney, her nails, and even her size.  The syndrome that encompasses all of these differences is called Focal Dermal Hypoplasia (FDH) or also referred to as Goltz Syndrome.  From one source, "Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems."  FDH was first named in 1962 by Dr Goltz but that actual gene link was not made until 2007.  A quick google search will lead to you to the basics of the syndrome, some of the things which Sawyer portrays and others she does not.  For the most basic review of the syndrome, read here.  Want to go a little more in depth?  Read here.

How are we feeling?  That's a good question.  My initial reaction after getting off the phone with the counselor was tears.  But I couldn't tell you if they were happy tears, sad tears, tears of relief...I'm not even sure.  I am relieved that we have an answer.  Confused and nervous because this syndrome includes things that Sawyer doesn't have or has yet to show.  Bewildered that there are less than 300 cases reported.  Worldwide.  Ever.  It's so uncommon and rare that there's not even a statistic for prevalence.  We fondly referred to Sawyer as "one in a million" since we didn't have a clear diagnosis for so long, but one in 25 million---is this a joke?

But let me tell you just how AMAZING my husband is.  Before I even set down the phone after saying goodbye to the counselor and he could see the sob forming in my chest, he grabbed my hand and said "This doesn't change anything.  She's still Sawyer."  Seriously, amazing.  Definitely a keeper.  God gave me a good one.

Now that I've had some time to process (and research), we're both at peace with it.  Sawyer is so special and while we've joined another club that we never imagined would be in our cards, I feel like we'll be part of a unique and supportive community.  I found a group on Facebook for those affected or for parents, relatives, and friends of those affected with FDH and they have already been a tremendous resource.  I have found that some of their stories mirror ours and their comments echo my thoughts the past 14 months.

Does this change anything?  Not really.  As so many say, she is not defined by a diagnosis.  She is still our feisty, vivacious, toothy grinned girl whom we love and adore.  This just makes us more aware of things we need to watch out for, such as heat intolerance, skin sensitivities and differences, early onset childhood osteoporosis, stunted growth, and teeth abnormalities.  We now know that enamel defects are common in teeth, so being proactive and finding a dentist early on is wise, but we've pretty much already lined up our other specialists to address each of her issues.  Also sounds like all of these kids remain below the third percentile in growth and I found one research study trying to link the gene to having effects on the pituitary gland which in turn causes poor growth.

February is a big month for us.  We had the most appreciated and most needed reprieve from specialists from the end of October until now.  Not that we don't love every specialist on our team, but we got to enjoy the holidays and not be concerned with appointments and tests, etc.  The holidays were wonderful and I'm so thankful for that break.   Now we're back to it.  We'll meet with another geneticist to discuss Sawyer's results and so that he can make referrals for us, as well as meet with her hand surgeon and discuss when to schedule her next round of surgeries.  Then back to our orthopedic specialist here in town and the ophthalmologist.  We're not very excited.

I'll keep you all updated as we find out more information.  I'd be lying if I didn't say I wasn't slightly disappointed that we will not be getting a syndrome named after us...I mean, how cute and non-invasive does "Sawyer Syndrome" sound?  In all seriousness though, if you take away anything from this post, I think the very most important thing I hope you remember is...she's still Sawyer. And that's all that matters.