Wednesday, February 15, 2017

 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.



Saturday, December 31, 2016

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.






Wednesday, November 30, 2016

Time to VOTE!


As you know, I'm the "warrior" for the Hnilo family this year. They are adopting a little girl they are naming Everly.  Her story is similar to Sonnet's except even sadder.  When her previous prospective adoptive family arrived earlier this year they made the decision that her needs were just too great and returned her to her orphanage.  :(  The Hnilos are stepping out to get her home as quickly as possible.  They got the decision from USCIS (immigrations) that they agree her health needs are great and are expediting the adoption.  I'm committed to encourage them, pray for them, and raise funds as I'm able.  Here is a fun idea that you can all get involved in.

For months the adult sisters have been saying that Isaac should get to determine how HE wants his hair. We parents aren't so sure. He seems stuck on this anime style as seen in the drawing he created above! So we are putting it to a vote.

What do YOU think? Each dollar you contribute to the Hnilo family's FSP will "buy" you a vote. Simply contribute any dollar amount to their tax deductible account at http://reecesrainbow.org/112798/sponsorhnilo and then report back to this post to cast your ballot by commenting.

Isaac is on board and will comply with the vote. If he and the sisters "win" he gets to grow his hair long enough to style similar to his drawing and keep it that way for one month. If the parents win, he sticks to the status quo. We hope you will have fun with this fundraiser for the Hnilo family!

Remember each dollar is a vote, and every vote counts.   To participate donate by clicking on the link above or donate in the sidebar to Every's adoption.

UPDATED:  Isaac and his big sibs won the vote.  Stay tuned for his new do!


Thursday, November 24, 2016

Sonnet gets SMOs

Sonnet got her first pair of SMOs (Supra-Malleolar Orthosis) yesterday.  They help to give her support while standing.


She was super impressed as you can see. She would rather throw them than wear them!





Happy Thanksgiving!

We are a very thankful people this year, for sure!  We celebrated with the big meal with Ethan's mom, our adult "kids" and grandkids last weekend, so today was a relaxed day at home with no big expectations.  In fact, Tikvah had requested our Thanksgiving meal be a la Charlie Brown style with popcorn, jelly beans and toast!





 

One fun thing we did today was to let Sonnet try out her Upsee.  We have had this for a couple of months, but due to the amount of seizures she had been having, we hadn't been able to let her try it out.  In case you don't know what this is, I'll explain.  First, the adult puts on the belt, then the child puts on a vest like harness.



The child's harness is attached to the adult's support belt.


And then both put on the sandals.  There is a small one and a large one hooked together for each side.



Sinch up the straps...


And you're ready to walk!



I was able to get a short video of Sonnet walking with her Upsee for the first time, but Blogger says the file is too large to upload.  However if you would like to see it, you can watch it on YouTube here https://youtu.be/k8aFBpe0Pr8

We hope you had a wonderful Thanksgiving also! 



Friday, November 18, 2016

Happy Birthday to Sonnet!

The doctors talked as if we might still be in the hospital on Sonnet's birthday.  So thankful to have her home and healthy again!  Happy Birthday sweet Sonnet!





Sunday, November 13, 2016

Sonnet is home! Thank you for your help!

Sonnet is HOME!  We left the hospital shortly before noon on Saturday.  Sonnet was soooooo happy and excited to get in her stroller!  She laughed, and giggled, and waved, and said, "Bye bye!" to everyone she saw all the way out of the hospital!  And she was so excited she had the first (very short and mild) seizure we'd seen for nearly forty-eight hours as I went to put her in the van.   We haven't seen any seizure activity since.

A glimpse of our way out....

video


With the cessation of the seizures I was able to feed, feed, feed her, and she regained all of the weight she had lost.  The change in my girl is astounding!  For the first time since she has been with us she is actually WELL fed and well hydrated and seizure free.  She was already vibrant and bubbly, but wow!  She is moving FAST now and into everything.  I believe our life is about to get much more interesting.

As I reflect back over the past week as a family truly in crisis, and see where entire days just seemed to vanish as the doctors attempted to bring Sonnet back from (and I quote one of the neurologists) her "scary place," I am tremendously grateful to family members, friends, and the medical staff who worked HARD and tirelessly to bring our girl back to us. 

I am keenly aware that our decision to adopt medically needy children from hard places affects everyone in our circle of influence.  Our adult kids and grandkids have sacrificed some of their share of time and attention from us (mostly without complaint) and neither they or our friends signed up to support a family in crisis.  I didn't EXPECT the help, but I am so, so thankful for it.

Many kindhearted people contacted me to ask, "Can I do anything for you?" and I appreciated that so much.  But the funny thing is, when someone is truly in a crisis you can't even THINK of what you need.  "Ideas of how to help someone in crisis" may be a future blog post, who knows?  But I want to thank you for jumping in and helping as your instincts told you.  People helped in so many creative ways.  Put together they were just what we needed to help us get through this. 

I was a HOT MESS and am speaking truth when I tell you I simply wasn't able to worry about my kids at home.  My hours were consumed with getting Little Miss the help she needed, assisting or comforting during test after test after test, researching possible solutions on my own, and mundane things like figuring out what to eat to stay alive.  Nope, not being dramatic.

Two of my adult daughters and a neighbor jumped in.  I didn't need to be concerned about the five kids at home.  They were receiving loving care, and while not happy that I was gone, they aren't the bundle of nerves I expected I might come home to. (Abigail and Jen in particular have anxiety issues.)  Tikvah was even able to get in on a roller skating party that I am sure did her a world of good.  She loves her younger siblings and expresses that often.  But it is HARD to live with siblings who are needy.  I'm so thankful she got to do something FUN.

Friends jumped in to help those caring for the kids at home.  Meals were delivered every night and are continuing through these first couple of days at home.  The primary care giver while I was away traveled a couple hundred of miles with her own three small children (she is expecting too!) and I know it was such a relief to her to not have to worry about what to feed the mob at night.  A huge thank you to those who took it upon yourselves to set up the meal train and bring meals.  It was so appreciated!
A few days into our stay Sonnet was in desperate need of a good bath.  She had gone through two sessions of having leads glued into her hair and was just a stinky baby!  I was shocked to find that the children's hospital had nothing to offer for bathing someone with her needs.  Our request for a bath chair resulted in a regular plastic chair with no supports or restraints.  Um.... guys she can't really sit up usually anyway, and is having seizures frequently!

I put out a call on Facebook for anyone local who could go to our house to pick up our Rifton Blue Wave chair so I could bathe her safely. Just moments later as I was making arrangements with a friend for the pick up, my daughter in charge at home sent me a text that the chair had ALREADY been picked up by someone else.  That fast.  Two different people were ready to drop everything and make an hour round trip to drop this off for her!  We used the chair a couple of times over the next days and it made our stay so much more pleasant.  What a huge blessing to have it brought to us, and so quickly.

While we weren't allowed to have people up to our floor at the hospital, friends found creative ways to help.  One out-of-state friend ordered a soft little doggy toy and balloons for Sonnet, and snacks for me from the gift shop and had them sent up.  Once Sonnet was feeling better she spent HOURS playing with those balloons, and is still snuggling with the stuffed dog at home -perfect!

Other friends sent up snacks, (who knew just figuring out what to eat was so hard?) and things like lip balm and lotions to make my creature comforts better. There was even ginger ball candy that was perfect for soothing my upset, nervous Mama tummy.  A couple of times when I was finding myself especially longing for a cup of good, strong coffee one would POOF appear via the concierge, having been dropped off by angels in the form of especially thoughtful friends.

Others sent notes of encouragement, posted their concern on my Facebook page, or sent text messages. It was so helpful to know that others genuinely care for Sonnet and we aren't in this alone.

And then there is the whole village of people who were praying for Sonnet.  From Facebook friends to other adoptive parents in the China groups, to in-real-life friends and their churches, to our pastors and the list goes on.  This was perhaps the biggest blessing to know people were praying.  I sincerely believe we witnessed a miracle this week.  We had a desperately sick little girl on Wednesday, and on Thursday she was on her way back to us.

Health wise, I believe she is at the best place she has ever been, but she is a sensory MESS.  She had so many glues, tapes, new soaps, etc. and she is just digging up her skin.  Please pray for some relief for her.

People tell me I'm so brave, but I'll be honest.  I'm not.  I am somewhat of a coward really, and as human as anyone else.  I don't enjoy a medical crisis, and DO enjoy my own bed.  But the bottom line is that I love Sonnet FIERCELY and just do what has to be done to see that her life is as good as we can make it.  Sometimes with a medically needy child that means taking on the medical establishment to help them see that she isn't "typical" and needs them to look outside the usual medicines.  The typical ones didn't work for her and she didn't tolerate them either.

As we were going through the discharge process I thanked the doctors for working so hard to help Sonnet, and for putting up with me cause I knew it wasn't easy at times.  One of them replied that I was a "great advocate for Sonnet."  I told her that was a very polite way of putting it.  She assured me that she was serious and not being facetious.  And that is what it comes down to as parents, isn't it?  We simply do what needs to be done for our kids.  Thank you my friends, for helping me to do that this past week.