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.

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!

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....

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.

Sonnet has a Secret!

You can't tell just by looking at her...

but Sonnet has a secret! 

We've discovered SpecialWundies!  I've never done a "commercial" on the blog before, but here it is.  And my disclaimer is that I have received NO COMPENSATION from the company in return for it.  This is my "I purchased the product and LOVED IT" commercial.

These are onesies for the older child!

I am so crazy about these things!

They were created by parents of a special needs child.  In their case their son was fed by a G-Tube and needed a onesie to help prevent him from pulling out his tube, and also to stand up to the heavy use by an older child with therapies and medical procedures.  All they could find to fit an older child fell apart after a few uses, was always out of stock when they needed to reorder, or were too expensive.  They decided they would have to manufacture what they needed themselves, and I'm so glad they did!  It took them two years of field testing, but SpecialWundies are available to us all now.

These are so perfect for Sonnet!  Like many children with cerebral palsy, she does an army crawl.  Her clothes just don't stand a chance at staying put.  Can we say "BRRRRRR, COLD TUMMY" when she reaches the ceramic tile floor?

  And like many children with the history of an orphanage background, she has sensory issues.  The onesie keeps her fingers out of her diaper!  Yessssssss!

SpecialWundies are made from a very soft 100% cotton, and seem to be made to last.  We don't ever want to be without one, and sometimes we go through more than one a day.  So we've orderedthree times now.  We currently have eight of these so there is always a clean one available!  They start in a size 2T and go all the way up to a size 16 (that is up to 120 pounds!)


You can find out more about the Wundies and the company's satisfaction guarantee on THEIR WEBSITE.    Sonnet says to HURRY! 

We're still here!

My apologies (for the lack of posts) to those who continue to hold our family up in prayer and are interested in how we are doing.  I've been pretty much in "survival mode" for the past month.  Our Little Miss came to us with multiple medical needs, and it has proven difficult to sort them all out and get her the help she needs.

Within the first couple of weeks Sonnet saw her pediatrician and her doctor at the International Adoption Clinic which triggered other appointments with specialists. She also began Speech, Occupational and Physical therapies which she goes to each week.  They are attempting to help us obtain an appropriate feeding chair and also a stander with wheels so she can have some independent movement about the house.

Sonnet had dental work done under general anesthesia at a surgery center because of the extensive amount of work she needed.  She had seven teeth pulled, six caps and a few fillings.  Poor little dear is having to learn how to chew all over again since she somehow USED the little black nubs while eating.

Because our much loved pediatric dentist is in another state, Sonnet and I "got" to spend a couple of nights in a hotel near the surgical center.  It really wasn't fun, and I'm so glad to have that particular need behind us.

Another biggie was trying to get a diagnosis of the seizures she has been having.  A regular EEG and a brain MRI didn't give us any answers so we ended up with an in hospital stay hooked up to wires and under constant video.

This obviously wasn't something Sonnet enjoyed either!  Following that L-O-N-G test she was put on a medicine to control the seizures, but it ended up actually CAUSING seizures.  We are now in the process of weaning her off that medication and beginning a different one.

And in just a couple of days she will see the Cerebral Palsy specialist.  Whew!

Much of the last couple of weeks have been spent holding, rocking, and wearing our previously happy child who has been replaced with one who looks like the photo above much of the time.  Yes, I do believe it is caused by the medication and we are seeing some improvement with the weaning off of it.  I do miss my happy, smiling girl more than I can say though.   Please continue to keep her in your prayers.

Jen's Fancy Casts

New to us this summer was serial casting. Jen's muscles are super tight and her therapists are hoping to get a lasting stretch this way. We've spent all month going in to have another stretch and casts applied.

Her favorite color is yellow, but the therapist didn't have enough yellow to do the entire thing, so she compromised with purple casts and yellow stripes.

 

 

We're on the final set now and I'm beginning to notice a marked improvement in her walking.  Really hoping this is just the thing she's needed!

 

Therapy Fun!

Now lest you think we are going this whole conquering sensory issues alone... we have a great team of therapists who are helping and advising. 

So blessed to have access to some really good professionals!

The quest to conquer sensory processing disorder

Our tiny miss has suffered from an absolute lack of stimulation and we're working hard at PLAY in our house.  Her favorite activity would be the water table....

followed by the Therabrush.

It took her two days to warm up to the water beads.  She WANTED to touch them, but the feeling was a bit too much.

Some of my grandchildren were over the next day and they LOVED them.

I believe they were instrumental in getting Sonnet to give them a chance.

Another thing we've tried is Kinetic Sand.  At this point she grabs a handful and attempts to take it straight to her MOUTH so we'll put that one away for awhile!

Sonnet goes to therapy

The Little Miss went to therapy for the first time.  She was all smiles as she met new people and waited for her turn.

She and her occupational therapist really hit it off.

She was pretty tired out after working hard for an hour, but we came away from the evaluation with some good ideas to work on at home.  Next up will be the physical therapy evaluation.

My husband is a GENIUS!

This old lady is having trouble lifting two wheelchairs and a weighted walker in and out of our big van when I go anywhere with the kids by myself.  So Ethan and I went to a medical supply store this weekend to try out ramps. The aluminum one weighs FORTY-SIX pounds, and then I would have to wrestle it through the side aisle in the van. Definitely NOT an improvement.

We've come to the conclusion that we are going to have to have a lift.  But a lift doesn't happen in a weekend.  We will need to seek funding for one (they are very expensive -- hopefully insurance will help!) and then it will need to be ordered and professionally installed. In the meantime I was desperate to have SOMETHING to help me get the equipment into the van.  

Last night Ethan took the boys outside with him to work on a project.  Look what he did!

This is for pushing ONLY the chairs up - no kids in them, and is a temporary fix until we can get a ramp, but wow.  It surely saved my back today!  If anyone else is in a similar situation here is what he did.

 

He used two, 2" x 6" boards and trimmed the corners to fit in our bumper.  Also note the cord.  He drilled holes and put a knotted cord through the top part and the bottom part so even I can get the boards properly spaced to hold the wheels.

 

 

This man knows me well, so he built outside "guards" so I don't run the wheels off the boards.

They are lightweight, and flat enough to stash UNDER the seats.

I'm so thankful for this, and my kids will be too.  It means we will get to go out to fun places more often!  If you think of it please be praying that we eventually find what we need in a lift.  Thanks!

Phillipians 4:19

Sonnet has low tone, as in she is very floppy.  We knew this.  I figured we could get by with some regular baby equipment for awhile since she only weighs 30 pounds, but I was wrong. She is also very tall which means baby equipment just can't do the job.

In China it took both Ethan and myself to safely give her a bath.  This isn't very practical at home where we have other responsibilities also.   And she LOVES her bath, so I didn't want to have to rush her through it.  Imagine my delight when I found a Rifton Blue Wave Bath/Shower chair on our local Craigslist for about 1/3 of its retail price!  I snatched it right up!  The seat detaches from the shower legs and fits right in the tub so she can splash around safely.

We purchased an umbrella stroller to use in China.  True, her feet would touch the ground when she refused to keep them on the foot rest, but it worked for a couple of weeks and was such a big help in the airport.  I figured once we got home a larger stroller would keep her feet up off the ground and be better.  Well.... it was better, but trying to stuff her long legs down under a regular stroller tray was difficult for both of us.  Getting her out was just as bad.  And she really NEEDS chest support too.  I thought there MUST be a better way.  Indeed.

A sweet friend dropped by our house on Saturday morning with a gift.  This was a gift from the very heart as it used to belong to her own precious daughter who passed away.   We feel so honored that their family chose to bless us with it.

It is a Snug Seat Stingray Adaptive Stroller.  Friends, this is a wheelchair in disguise!  It has all the safety features and supports of a pediatric wheelchair without the clinical look.  You can see in Sonnet's face in the picture above that this seat is SO MUCH BETTER than anything we had been able to find for her!

We are once again blown away by God's attention to the details... for having a plan to meet Sonnet's needs before we were even aware of them, and for His people loving so selflessly on our little miss. Thank you, Ball family. We are so touched by your generosity. 

"But my God shall supply all your need according to his riches in glory by Christ Jesus."  Phillipians 4:19

 

So how are we doing, really?

We began our trip home a week ago today.  While I will fill in some of the blanks of our time in country eventually, this isn't that day.  Today I reflect upon settling in with Sonnet.  After advocating for her for nearly two years, and honestly struggling about bringing home a child this young and this needy, I am surprised to find that she seems to have filled a gap we didn't even realize we had.  Everyone is just smitten with this tiny little girl.

This is what HAPPY looks like!

 Sonnet's needs are great.  She appeared to literally be starving when we took custody of her.  We were concerned that she wouldn't tolerate food, but WOW you should see her eat!  In spite of very, very rotten teeth she can pack away three meals and snacks beside!  Her Cerebral Palsy is the most severe of any of our children, and has already required us to get some special equipment to care for her needs.  Her global delays put her at about the level of a 6-9 month old baby.  The biggest surprise of all is that she has seizures.  We have already taken her to Cincinnati Children's Hospital for an EEG and are awaiting those test results.  Our big marathon of doctor and dentist appointments begin next week.

Having given the run down on her needs one might think we are struggling, but honestly this has been the easiest adjustment of them all.  I am typically knocked off my feet with jet lag for several weeks following the trip.  We arrived home on Saturday, and it was a rough weekend.  Monday started out feeling like JET LAG will kill me, but it has just gotten better since.  I simply cannot believe that one week in I feel like we have hit our stride of the new normal.  In fact I told Ethan just last night that I'm waiting for the proverbial shoe to drop because it just seems too smooth.  Are we in our honeymoon period of the adoption?  Perhaps, but I'll take it!

Here is a look at our morning.  The kids were just hanging out after breakfast and playing with one another.  Sweet times. 

Had anyone told me that well into my fifties I would again have six children of my own at home I would have laughed at them.  It wasn't my plan.  But I'm thankful that God's ways are not our ways and His plans are not our plans. Sonnet was worth all the sleepless nights, the paperwork, the hassle and the worry.  I am one truly blessed mama and having the time of my life!