Sonnet goes to Philly!

One "surprise" diagnosis for Sonnet was severe scoliosis.  The spine doctor at our local children's hospital recommended a spinal fusion surgery.  Since she is only seven that didn't sound like such a great option to me. So I did some research and got an appointment for her at Shriners in Philadelphia where they have a "tethering" procedure.

She and I headed off on an adventure this week.  I'm not one who enjoys traveling, but I'd walk through fire for my girl.  We set out with wheelchair and bags in tow, and some amount of nervousness too.

One thing that made it a little easier was we found that somehow we had TSA pre clearance status. I have no idea how or why, but I gladly marched on through and didn't have to unpack anything or take off shoes! Yay! They DID have to swipe Sonnet's hands and wheelchair to be sure it was safe. She thought it was super weird, but cooperated.

There is a really steep area that one has to go up in the Cincinnati airport, and once I had gotten our breakfast it was a slow go with food, two backpacks, a rolling suitcase, Sonnet's little diaper bag, etc. A nice American Airlines employee saw my struggle and helped me out. He even gave Sonnet a pair of wings (pin) as a souvenir. 

Our plane was a little late taking off due to a thunderstorm in Cincinnati, but no big deal. The plane was a little bitty one, but we must have had an excellent pilot cause it was very smooth. Sonnet played with a baby sensory game that Ethan had loaded on a tablet for her, drank apple juice, and colored in a notebook. She did awesome!

 The first big surprise was when we got to Philadelphia I had to carry Sonnet down stairs to get off the plane. Thankfully she didn't scratch and throw off my glasses like she does at times.... An airline employee helped us out of the airport and to the UBER car waiting area. Their employees were very nice.

It was my first time riding UBER, and I was impressed (well except that it never gave me the option of ordering a car with a carseat like it said it would.) Our driver was careful and also super nice. Since it was too early to check into the hotel we walked for about an hour in downtown Philly.

 The hotel got us into a room about 11:30. I appreciated the early check in. Everyone here was so helpful and pleasant. Could be they just couldn't resist the smile that Sonnet had been beaming their way.

Since we had to be at the airport before most people should even be awake I had thought Sonnet would take a nap.  Wrong.  So out we went to explore again.

Liberty Bell

 Shhhhhhhh! Don't tell my other kids that Sonnet and I went on a tour of the historical area in a horse drawn carriage!! We saw so many really interesting and OLD buildings and learned that Benjamin Franklin basically invented and began most everything in their city. LOL! Pretty cool to be where Washington handed the power over to Adams - and King George thought he wouldn't do it!

Benjamin Franklin's grave.

 Of course we HAD to try a Philly Cheesesteak for dinner.  Since Sonnet can't eat meat she enjoyed the peppers and mushrooms along with some of the bun.

Our appointment was without incident the next morning.  We loved, loved, loved the doctor, in fact Sonnet kept hugging him like he was her best friend (and he didn't even have a beard!) She turned on the charm big time and everyone was smitten with her, but I digress.

A follow up x-ray showed the curve to be not quite as dramatic as the x-ray taken in February. I'm told it may vary by how much she wiggles during the procedure and at some point we will likely need to get a combination x-ray series with her standing and sitting both.  BUT he didn't feel that she was in any imminent danger of having her heart or lungs compromised. He said we have way too little information on how this scoliosis is going to progress (or not) and suggested that she is waaaaay too young to do ANY kind of surgery at this point. She is to return every six months indefinitely so it can be tracked over time.

When and if the surgery becomes needed  it won't be the tethering that we had hoped for. After watching her movement he said she wasn't a good candidate for it.  The way she army creeps around  would likely break the nylon tethers. BUT he suggested a magnetic rod instead of a fusion. It allows more movement than a fusion, and instead of an every six month surgery to allow for growth, it would only be every two years. The rods are extended by the use of a very strong magnet instead of by surgery each time! I loved that he took his time with her and really answered every single question I asked. THAT ALONE will get me to travel several hundred miles to see him again.
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I was amazed that Shriners runs ON TIME!  We were done within about an hour of her appointment time including being seen by a resident, several nurses, the doctor and getting the x-ray.  I had allowed LOTS of time for the appointment , so our plane home wasn't for several more hours.  After eating lunch in the cafeteria we hung out in the awesome playroom at Shriners for awhile.

 The people in Philadelphia were all so gracious, patient, and kind to us, really without exception. City of Brotherly Love? Perhaps. I like Philly!

Sonnet's summer plans

Do you remember Sonnet from last summer?  The tiny girl who needed a harness to sit in her stroller?

I can hardly comprehend that this same child is now learning to ride a bike!  Look at this!

We are so encouraged by the rapid improvements she has shown since being put on the creatine supplements and feel we are really on the right track towards restoring her health.  I wish I could say her plans for the summer are to ride her bike and do all of the other things that children love to do in the summer time.  But she does still have one giant hurdle to jump. 

Sonnet has severe scoliosis.  As in it has to be corrected or we risk crushing her heart and lungs. She and I have flight reservations in mid June for a consultation in Philadelphia.  Why so far?  Locally all they can offer her is a spinal fusion.  It is a very radical surgery and one that we really don't want for a seven-year-old child.  But she is a good candidate for a spinal tethering surgery that is only done in a dozen or so places in the country.  So, off we go!  We'd appreciate your prayers for wisdom for us and the doctors on how to best treat this health issue.

Baseball Time!

School Scholarships

Sonnet's homecoming has been a wonderful thing, and I count it one of my biggest joys that I get to be her mama. And with her coming I have had to admit that I can't do it all. She is a needy little darling and I finally admitted this spring that I really do need some help. Tough thing to admit, and even tougher to ask for it.

A friend told me about a scholarship available to special needs children in Ohio who do not attend the public schools. It is funded by their district school, and provides educational help for them that the schools would normally be required to give.

I spent days filling out paperwork, and we've had home visits from all sorts of professionals to determine the kids' eligibility. Today was the culmination of all of that work as I went to hear our ETR (Extended Team Report) and receive our IEPs (Individual Educational Plans.) With these official documents I was ready and submitted our scholarship applications today.

What will this mean for us? Our hope is to have an aide for our classroom so ALL the kids are getting their fair shake of time and attention. There are so many things I WANT to accomplish, but am just one person. I'm not sure how I am going to feel about sharing my house and school day with another person, but am praying we will have a really understanding and compassionate person assigned to us.

I will admit that I was somewhat terrified going into the IEP process but I've been so, so impressed with our local school district. They went above and beyond to push the evaluations and paperwork to ensure we would meet our application deadline of April 15. AND a mama can tell when people genuinely LIKE her kids. I believe their heart is in their job.

So WHY the pig picture? When the speech therapist visited us she referred to our notes from private therapy that said Sonnet loved to work with this specific piggy bank in therapy. She asked us if we had one, and I told her I had been looking but hadn't been able to find one yet. (They WERE discontinued, I actually saw them again on Amazon just last week!) This happened a few weeks ago and I didn't figure she would give it another thought.

Fast forward - Sonnet's eyes have been a little "twitchy" at times the past few days and I've been concerned that she could lapse into seizure activity again. So, she went to the meeting with me today. Ok, I pretty much won't leave her with anyone on even just a usual day anyway. (Shrugs.)

I was so happy that Sonnet was with me so the therapist could see Sonnet's HUGE SMILE and piggy hugs and hear the squeals of delight upon getting this! It was super kind of the therapist to remember and bring this special gift for Sonnet. Thankful today for compassionate staff at our schools and special piggy friends!

Blog has gone private....

I've had a public blog since we began the adoption process with Abigail and Jennifer in the summer of 2012.  It was my hope to help others along the way in the confusing world of international adoptions.  It has also been a fun way to communicate with those who helped to get our kids home and wonder how we are all doing.  It has since evolved to encourage others with special needs kids.

Tonight I set my blog to PRIVATE.  Why?  I purchased a gait trainer for Sonnet from Ebay.  I was sent a size smaller than the posting specified and have been "in conversation" with the seller about a way to remedy this. 

Tonight she denied my request for a refund and actually responded to me mentioning that they had seen my "website" and all the kids we had adopted.  Honestly, it creeped me out major time that this person must have done a search to find my personal information. 

I don't know how long I will leave the blog set as private, but if you're here, "HI!"  Feel free to invite others who would benefit from some of the adoption specific information or just like to keep up with our sometimes crazy family.  Leave me a message with their name and email address -- messages are set to never publish without my pressing that magic publish button -- and I'll add them.

 Happy Valentine's Day!

We had a yummy time celebrating Valentine's Day at Graeter's. It was buy one get one sundae free day. Sonnet ate her entire specialty cake/ice cream sundae - it was a big one! We got the 1870 tower.

That is she ate it all except for the nuts which she spit out and threw on the floor. AND the cherry. LOL! She gave me the look that I've only gotten before with broccoli. Then said, "Ewwwwwww," and it joined the nuts on the floor. Sorry, Graeter's. I did clean up after her as best as I could with baby wipes.

 

Sonnet Update - New Diagnosis

Sonnet's health has improved so very much since she was discharged from the hospital in November.

Instead of lying on her back, she routinely sits herself up to play now.

She loved our Christmas activities, especially HER turn to add the ornament to the advent tree.

She can sit in a regular chair now.  And she has gained TEN POUNDS since she left the hospital!

She was one very, very sick little girl in the hospital and you may remember that they ran test after test after test in an attempt to get a diagnosis.  Most of the tests actually turned out fine, but the genetic testing results was not available until just this week. 

So often with my children who have really NO past medical records, there are so many tests that when the doctor suggests one more I don't really think that they are going to uncover any mysteries.  But this time they actually DID!  Sonnet has been diagnosed with a rare genetic condition - Guanidinoacetate Methyltransferase Deficiency (GAMT). GAMT is an autosomal recessive metabolic disorder that primarily affects the nervous system and muscles. It is the first observed disorder of creatine metabolism.

According to the Association for Creatine Deficiencies website, "Guanidinoacetate Methyltransferase Deficiency (GAMT) is a mutation in the GAMT gene that makes the enzyme that creates creatine, resulting in a shortage of creatine."

 

What is creatine anyway?  Creatine is a naturally-occurring amino acid (protein building block) that's found in meat and fish, and is also made by the human body in the liver, kidneys, and pancreas. It is converted into creatine phosphate or phosphocreatine and stored in the muscles, where it is used for energy.  Creatine is needed for many tissues in the body to be able to store and use energy properly. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, such as the brain and muscles.  A shortage of creatine just doesn't allow for enough energy to support the brain and the muscles.  Thus this syndrome seems often misdiagnosed as Cerebral Palsy or mental deficits.

 

My research tells me that both of Sonnet's biological parents carried one copy of the mutated gene, but they likely had no symptoms.  She probably appeared "normal" at birth with symptoms showing later as she began to miss developmental milestones.

This diagnosis explains so much, especially the WHY to her sudden dramatic increase in seizures.  The good news is this condition can be improved.  Her doctor has ordered supplementation of  Creatine Monohydrate and L-ornithin, along with a vegetarian and low protein diet.  When this is implemented at a very young age the child has a good chance at totally reversing the syndrome.  Since Sonnet is seven-years-old her outlook isn't as good, but our physician is hopeful that we will see significant improvements in four key areas:

1. Seizures - perhaps to the point that she will not have to take her seizure medication once she obtains and maintains an adequate creatine level.

2. Cognitive ability - she likely has some permanent neurological damage, but adequate creatine levels should improve her ability to learn.

3. Muscles - we're hopeful that Sonnet ultimately won't need a wheelchair as her primary means of getting around.  Maybe she will require a walker, maybe she won't!  The original Cerebral Palsy diagnosis?  May not be at all applicable.

4. Behavior - interesting enough, what we were interpreting simply as "institutional behaviors" may in fact be a part of her syndrome.  So for those of you who have had your hair pulled, been scratched or slapped - as her creatine levels increase, these behaviors will hopefully decrease!

Sonnet will be closely followed by her doctors with blood tests and periodic specialized MRI spectroscopy of her brain to be sure her creatine levels are sufficient.  She will also see a metabolic dietician who will monitor her special diet.

We are thankful to live in a time where genetic research has allowed the discovery of these mutations and an effective treatment for many of them. We are also thankful that this was diagnosed fairly quickly - she's only been ours for six months.  Sonnet is a huge blessing to us, regardless of her "handicaps" but we are THRILLED at the prospect of improving her quality of life.