Both Makenna and Abby were nominated to do the ALS Ice Bucket Challenge. We gladly accepted. I saw it as an opportunity to talk to the girls about a rare disease and discuss the importance of awareness and research.

We are dumping AND donating. Research is a passion driven beast, and only those 100% invested in finding a cure or uncovering a cause for a particular disease can keep pushing forward in the face of frustration, setbacks and red-tape. Unfortunately, all the passion in the world can't fund a research project. Research takes money. Getting that money is hard; so, the donating part is important.

The dumping part? That's just plain fun. And genius! I am inspired by whomever it was that first had this crazy idea. While it certainly has it's critics; it's working! According to this article in the New York Times, the campaign has raised over $41 million just between June 29 and August 21. That is astounding. And amazing. And a little ridiculous. And... gives so much HOPE.

My take away from this whole thing? Often times people don't donate to causes because they think what little they could give wouldn't make a difference. Think again. Based on my FB feed, the majority of people are dumping buckets of water over their head. While most of them are still donating, it's nominal - $10 usually. Look where a bunch of $10 donations ended up! $41 million!!!

So, in the hopes that all small donations eventually add up, we are TRIPLE DONATING! We will fulfill our challenge and donate to the ALS Association and we will also donate to the Engle Laboratory at Boston Children's Hospital as well as Dr. Joanna Jen from UCLA. Maybe someday I can be as creative as the Ice Bucket person and come up with a way to raise $41 million for them, but for now our modest donation will have to do!

Dr. Engle and Dr. Jen are the researchers responsible for identifying the gene mutation in Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). Before their research, HGPPS wasn't a diagnosis. My first correspondence with both of them was via e-mail before we even had a formal diagnosis. Both responded with 24 hours and have been nothing short of amazing. They have always taken a great interest in Makenna and have treated us more as friends than patients. It's only fitting that we take a great interest in their research as well!

Here is some great information on ALS... you know, the reason we are all wet! This information is taken directly from the ALS Association web site.

Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.

A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic" means nourishment–"No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.

To dontate to the ALS Assoication click here.

If you would like information to make a donations towards the research of Dr. Elizabeth Engle or Dr. Joanna Jen, contact me at [email protected].

Now... onto the dumping!!!!

We had Makenna's follow up appointment last Thursday in Cincinnati and we couldn't be more pleased. Her x-rays showed improvement yet again. To recap, last October she measured at 22 degrees (essentially back where we started in 2009). She was then molded for a new brace and seen again in April of 2013. At that point she measured 18 degrees. Small improvement, but still improvement. Then last week, she measured 11 degrees. Over the course of one year, we have seen an 11 degree correction. Simply Amazing.

Makenna was molded for a new brace which she was adamant would have the straps in the front! She wants to be able to get in and out of it on her own. I understand why they don't want them to be able to do that... but she's six and would like to independently get dressed in the morning. I can't really blame her and they were kind enough to grant her request! We had yet another fascinating experience of brace molding. Makenna has been molded for 5 different TLSO braces and each one has been done differently.
The first was done standing. She was 2. They wrapped her with molding material and had her stand with her arms out to her side until it dried.
The second was done during her final casting. She was 3. She was under anesthesia on a traction casting table and the mold was made while her spine was corrected.
The third was made on a casting table. She was 4. This time she was not under anesthesia and full traction was not applied, but the forces of gravity were taken out of the equation.
The fourth was made on a exam table. She was 5. No casting table was available. They wanted to make it while she was standing, but I had such a bad concept of this method that I persuaded them to do it while she was lying down. It was molded in two parts, front and back.
The fifth was just done last week. She is 6. She was standing and wrapped with fiberglass casting tape.
I have grown very comfortable with and confident in the bracing staff at Cincinnati. I like orthotic professionals who work hand in hand with the doctor. Payson does clinic visits with Dr. Sturm. He understands the underlying principle of harnessing the growth of young spines to "teach" them to grow straighter. That buy in is important. Payson wrapped Makenna with the fiberglass casting tape; just like a Mummy. Then as it dried, he gently molded her spine to a straight position, applying pressure where he will add pressure in the brace.

We were also able to meet up with some old friends! Max and Makenna met up at the brace shop ~ they shared a few casting dates when they were both casting! Max's mom, Cara, was my lifeline at the beginning. I really don't know how I would have made it through that first day with out her!

We also had a visit from the Marcano family. Sebas didn't want in the picture, but here are Abby and Makenna with Sebas' older sister Natalia! Sebas was successfully treated by serial casting. His spine is regularly monitored for regression and/or changes.

All in all, I am overwhelmed with the blessings we have found along the way. Great doctors, fabulous care, bonds with families and friends that can't be broken and HOPE. There is always hope.

We head. to Cincinnati next week for Makenna's 6 month check up. 6 months is a LONG time to wait. I felt a very strong urge to move that appointment up to address some issues I was seeing with an emerging rib hump... but ultimately, I bit my tongue and fought the urge (after we took her for an early brace adjustment!) The doctors are worried about radiation exposure from the x-rays. And I am, too. Every four months equates to 3 x-rays per year ~ every six months drops the number to 2 x-rays per year. One less x-ray per year is significant enough to make it a goal to aim for. If I notice a change or worry about regression, I am encouraged to move the appointment up. No pressure there:)

I have a plan for that, though! To take some of the pressure off of me. Remember, I watch kids bodies move for a living. The smallest difference will stick out to me and seem drastic. This is a considerable hindrance given our situation. The normal parental paranoia combined with a heightened awareness of small difference in symmetry can lead to just a tad bit of anxiety.

So here's the plan. I have a wonderful resource in a chiropractor friend. Relax... I will not let Makenna be CRACKED - or adjusted. But I trust him as an expert in movement and structure. He will be my second pair or eyes, looking for the discrepancies I may miss or dismissing the ones I may see. He will also be able to work with her on creating balance in her movement.

Adding him to her care team will make a six month wait much more bearable. That's the thing that sucks the most about scoliosis. No one seems sick. There are no outward symptoms. No sickness, no outwardly physical signs. The curve could be wreaking havoc inside with no indication outside. All of this unknown is very trying for a control freak!!!!

I am at peace with the plan and feel good moving forward. That is all I can ask:)

I have neglected this blog for long enough:) Dave brought it to my attention the other day when he said he checked the sight and saw the kids in their First Day Shirts for school....LAST YEAR!!!
Vowing to be a better blogger:)

Of course I had to ask myself why it had been almost a year since I posted last. And the answer was much easier than I thought. Makenna is 6. She is in first grade now. When I started this site, it was to keep family and friends informed. Then it very much became an outlet for me; to share my frustrations, fears, hopes and good news. I still need that outlet, but I think the general premise may change a little. The story of Makenna's journey is just that - it is HER story. As she gets older, it feels a little like I am posting on her behalf. I mean, this is the INTERNET. What I write today will still be here when she is asked to google her name in class someday. Fear not...it won't be long before she's able to write her own blog:)

That being said, I think there is still something important that needs to come from our experience - something that still needs to be shared. But it's from a parent perspective. So while I will still give updates after each appointment (every six months now), I will do a better job of keeping up with the site from a personal perspective. Navigating the medical system,  being an advocate for your child - finding them the help they need when it seems you keep running into roadblocks, building yourself a community of support, and handling all the emotions that come along with any diagnosis that throws a curveball in your "plan". Those are things I can speak to. Things that reflect my experience, not hers.  

This little pink post it has been hanging from my desk for almost 4 years now. They were notes I jotted down while talking to a mother of another child with HGPPS. This was the first family I had any contact with. I read his story on the ISOP webpage and I just knew. The symptoms were all there, but she didn't have a diagnosis for him. When I had contacted her, she had heard of HGPPS and had researched it, but hadn't gotten much further than that. I urged her to send her sons information to Dr. Engle at Children's Hospital in Boston. We made the trip together in February of 2010 for the clinic day with Dr. Engle and Dr. Hunter.

As I read and chronicle all the stories for Scoliosis Awareness month, the common themes jump out at me. I've always known they were there, just from listening to others talk over the past 3 years. But seeing a new story every day - it really makes it resonate.

Infantile Scoliosis is rare. Progressive Infantile Scoliosis is extremely rare. 90% of infants who are diagnosed with scoliosis have curves that will self-resolve as they grow and develop. Makenna is the 10%. All the families that I've met over the last 4 years - their kids are the 10%.
__________________________________________________________________
My little pink note... here's what it means:

At 5 months old, the mother noticed the curve.

She finally got someone to x-ray him at 11 months. At that time, his curve measured 42 degrees. They were told to wait and watch.

On their return visit at 17 months, his curve measured 60 degrees. He was given a brace.

After wearing the brace for 4 months, at 21 months his curve measured 90 degrees.

In 10 months, he had a 48 degree increase in his curve.
In those same 10 months, at that age, he could have received four corrective casts.

He finally began casting at 90 degrees. He had fairly steady numbers in cast. He would hold at about 57-62 out of cast and 28-32 in cast. He is currently in a brace full time still steady at about 57-62. His family is holding off surgery as long as possible. He is 6 years old. 
____________________________________________________________________
I wish his story was different. I wish so many of the stories were different.

I want infants with curves in their spine to be referred to pediatric spinal specialist. I want x-ray technicians to read an RVAD on infant spinal x-rays to predict progression. I want doctors to offer casting as a first line of treatment in infantile scoliosis. 

Those are the changes I'd like to see happen in regards to infantile scoliosis diagnosis and treatment. If Makenna's experience has helped families avoid the wait and watch period and find the best treatment possible then it has a meaning.

While only 10% of infantile scoliosis cases are progressive, those 10% deserve the best treatment possible. Wait and watch is not it.

That little pink note is a reminder of what "wait and watch" looks like.

We had a follow up appointment in Cincinnati on Tuesday. We weren’t scheduled to go until November, but I felt Makenna’s brace was getting too small and we just couldn’t wait. I’m very glad we pushed it up!

This has been a long, continuous journey that has never gotten predictable! 

In the beginning – Fall 2009 – Makenna’s curve measured 20 degrees. This is a VERY small curve. Borderline for treatment, actually. However, considering more than the COBB angle, the doctor felt there were two reasons we needed to act swiftly and begin casting. First, the underlying genetic condition of Horizontal GazePalsy with PROGRESSIVE SCOLISOSIS sent a red flag to take notice. Second, her RVAD reading was high. RVAD is a secondary reading on an x-ray in early onset scoliosis that can be used to predict the likelihood of progression. An RVAD of greater than 20 degrees has an 84% chance of progressing. Makenna’s was 39 degrees.  

Makenna began casting in November of 2009. In each cast, she was perfectly straight. After a series of 4 casts she transitioned to bracing in October of 2010. She maintained straight in brace through our appointment in May of 2011. I felt like we had beat the beast! 

Then in July of 2011, she measured 13 degrees. A small slip. Not much to be concerned about (from the doctors side!). We continued with bracing – even lowering the amount of time she spent each day in brace. By November of 2011, she was till measuring 13 degrees and we were only bracing at night. She was still 13 degrees at our last visit in March 2012. 

Tuesday (October 2012), she measured 22 degreesL 

When I saw the x-ray, my heart sank. It looked familiar…but not normal. And then I saw the little yellow lines marking her vertebrae – with a seemingly innocent calculation of the curve… 22 degrees. 22 degrees is manageable. 22 degrees won’t interfere with normal function. 22 degrees is a milestone for some and a goal for others. Many, many of my dear friends with children on this up and down journey would be overjoyed to hear 22 degrees. So there is a large part of me that wondered why in the world this brought tears to my eyes. But the other part of me simple couldn’t help it.

 The only math my head was calculating was that there was an average progression of 10 degrees each year. 

We simply can’t continue that trend…

I could spend a lot of time trying to figure out how her curve crept back up. Didwe wait too long to go back? Should we have pushed for a new brace in March? In the long run, it really doesn’t matter how we got where we are. It just matters what we are going to do from here.

Her doctor is, of course, concerned. But let’s be realistic…if a five year old
walked in off the street with a 22 degree curve, most doctors wouldn’t do
anything. Like I said earlier, if she comes out of this as an adult with a 22
degree curve, there won’t be any effect. She won’t even notice. When I first
found her curve no one believed me. You can’t see it (well, I can…) and it
doesn’t interfere with her daily functioning or her vital organs. Even if it got
to 30 or 40… still wouldn’t matter. She could function…probably wouldn’t even need surgery or have any pain. 

That was actually the hardest part of the visit - when her doctor outlined the normal treatment for someone Makenna’s age with her curve (even knowing the underlying condition). Brace. Hopefully contain/maintain. Carefully watch. If it progresses to 30 or above then we adjust the time in brace. We don’t know what the curve is going to do. It could stay right here. It might get a little worse. It could take off and we could lose control of it– then we’d talk surgical intervention. That’s the pragmatic view from the doctor side.

Wait… What?! Why am I having this conversation? We did everything
right…  We caught it early. We got proper treatment right away. We diligently researched to find the underlying cause to pass the information on to the doctors who care for her. Why is surgery back on the table? Why? And I know realistically it’s not really back on the table at 22 degrees. But the very fact that he mentioned it… just sticks in myhead.

From the mom side… I just want it to go away. I want to fix it. My goal is zero. I am a control freak. I want a logical answer and hard statistics. I believe in “if X, then Y”. Unfortunately, scoliosis doesn’t work that way. There is no charted path. No statistics to predict what may happen with any given curve. NO control. NO set outcome. SUCKS!

Throw into the mix that Makenna has HGPPS and it’s all just a shot in the dark. I just have to keep faith that there is a gift here, somewhere. And that it will all work out however it is supposed to. I have to let go…and let
God.

 So, the plan for now is this. We molded for a new brace. It will have pressure padding and will be higher on her left side with a hole on her right. I am hopeful it will provide some correction.

 Friends have asked me if they will re-cast her.  The answer is “NO”. Not for her. The genius of casting is found in harnessing the rapid growth of the spine in the first two years of life. When the growth is not as rapid, most research indicates that the same correction (or hold) can be achieved by bracing. I know lots of kids still being casted who are older than Makenna. Their circumstances and curve are completely different than hers. Casting is the smart option for them, but not for Makenna. This is hard to hear as a parent because I have been indoctrinated to believe that bracing is for the birds and will only hold the curve. Bracing has come a long way. Hospitals that regularly do casting have orthotist in the OR during the procedures. These orthotists are seeing the results and appreciating the corrective ability of carefully ‘realigning” the body while molding. They understand the goal is to gain correction rather than simply hold the curve. An orthotist with this experience and goal is who will be making Makenna's brace.

I feel at peace with where we are and what we are doing. It was a rough week, but in the end, I know it will all be ok. I’ve done a lot of research this week and reached out to a lot of old contacts. It’s funny to phrase it that way. I’ve emailed lots of people that I’ve emailed in the past who have been kind enough to answer me before – that’s more to the point. Doctors and researchers who are studying HGPPS, or Vertebral Stapling, or the underlying causes of scoliosis. I've got some replies already, which speaks volumes to the importance of asking questions and the generosity of people invested in helping kids and families. I’ve also got some innovative suspension therapy lined up and have been thinking of things we can do to help even here at home. I told you… I’m a control freak:)

 As Makenna has come “full circle” with her curve, I, too,  have come full circle with the lessons I’ve learned. 

You can’t plan everything. 

You have to remain open-minded and flexible. 

Sometimes, things just don’t go your way. 

You have to find a way to find the positive in every situation.

You will never be handed a challenge you can’t meet.  It may require asking for help, but you will meet the challenge :)

All of these are important lessons. Hard to learn, but valuable to know.

We are blessed.


 

On our walk the other day, the girls were picking dandelions and blowing the fuzz off. Makenna asks Abby if she's supposed to make a wish when she blows it all away. "Sure", Abby says, "I did. And I think it will come true because it was reasonable".

"That's right", I reminded them. "You shouldn't wish for a unicorn or somethings crazy like that... because it probably won't come true, then you'll be disappointed."

"Darn it!", Makenna says, laughing as her fuzz goes flying away. "My wish will never come true."

"Uh-oh. What did you wish for Makenna?"

"For life to be fair."

hahaha:)