Sunday, July 13, 2014

Mighty Thursday

This coming Thursday is very important.  It's a day that Josh and I have counted the days down to.  Over 7 months ago, we went to a genetics appointment where we decided to move forward with Exome testing on Carter.  In order to do this test, all 3 of us had to give a blood sample and we signed many consents agreeing on the steps of the test.  This is the last genetic testing that is available at this time and our hope is to find the mutation in Carter that would explain why he is so severely affected.  To this day, every single genetic test we have done, has come back normal.  All we know is that his Mitochondria in his muscle biopsy have mild defects, but it doesn't tell us why.  The reality is, we still have no idea why Carter has what he does.  Some people may wonder why we keep searching since there won't be a magic fix and it won't change our treatment options.  But to us, it is important.  The hardest part of this journey, is not knowing why.  We don't know what the risk is for our girls and their future children.  So when the mention of Exome testing came up, we didn't even hesitate to move forward.  It was on December 11th, 2013 that we sent our blood samples off to a special lab in another state and started the waiting process.  One month ago, we got the call that results were in and we scheduled the follow up.

The events of this next 2 weeks has lined up in such a way, that I have to believe it's all meant for a reason.  Some special reason.

With the 5K in Carter's honor fast approaching, we were invited to be on a segment of our local TV show called the Bart Hawley Show.  Luck would have it that the only day they can have us on, is Thursday.  We will leave the hospital from getting Carter's Exome results and head straight to the studio to be interviewed.  All the reasons that we are planning this event to raise money for research is what we are anticipating at this appointment.  Our biggest hope is that researchers can better pinpoint Mitochondrial mutations, treat them and ultimately, cure them.  That all begins with answers.  And here we are, going on TV to talk about the event and why it is so important to us.  I am nervous and excited for the entire day.  I have no idea what to expect or how I will hold up.  But in my heart of hopes, I hope that we get answers, that I hold strong during our interview on TV and that our event is a huge success so that as all these things line up, we can make a difference.

Stay tuned…

Wednesday, July 2, 2014

Funny things called shoes

There are many things that have made me cry throughout our journey with Mitochondrial Disease; many of which don't require explanations or listing.  But there are many things that go along with our struggles that many may not realize could cause such grief.  One of those things is shoes.  Yes, shoes.  I have cried more times over shoes, than many of the "bigger" struggles.  To many people, this may sound silly and irrational, but unless you have struggled in the ways we have every step of the way, you may not understand.  Literally.  When Carter was born and still in the hospital, his pediatrician told us that we would need to see an orthopedic doctor right away to have his feet looked at to determine whether he had clubbed feet or not.  When he was only a week old, we made the hour drive to a children's hospital for his very first specialist appointment.  We were very fortunate that he did not have clubbed feet and the doctor told us that they would flatten out and become more straight as he grew and began walking.  As many of you know, the days of walking never came.  Therefore, he never put the weight on them that was necessary to flatten out his feet.  The birthdays, holidays, growth spurts and family pictures came and went.  And throughout those events, it was near impossible to find shoes that fit him or stayed on his feet without causing him pain and sores.  When the days of orthotics came, so did more horrible shoe shopping trips.  I have walked through shoe departments in every store you can imagine, looking at all the cute loafers, dress shoes, tennis shoes, sandals and boots with tears in my eyes and frustration in my heart.  None of them fit Carter.  We had to buy shoes that were 2 or 3 sizes bigger than his actual feet just to accommodate his orthotics or extremely curved arches.  To be completely honest, Carter has spent majority of his life shoeless or in socks.  Two years ago, my uncle offered to get Carter shoes at our local speciality shoe store for his birthday.  So we took him to get fitted and the shoe professionals showed me the shoes that were extra wide and very flexible.  To my total surprise and joy, they fit.  And not only did they fit, but they were so cute.  Saucony brand isn't carried in most stores and has to be ordered (taking almost 2 weeks to arrive).  But they were everything I wished for in shoes.  Of course, the price tag is much more hefty than my bargain shopper heart would like to spend; but who can put a price tag on something like that?!  My uncle bought him TWO pairs of shoes that day.  And because Carter's feet didn't grow because of the lack of weight bearing, they lasted over a year!  And as miracles would have it, Carter started to stand, bear weight and take steps with assistance, which has made all the difference in Carter's arches and shoe growth!  His feet are growing at record rates!  He has went from a 5.5 to a 10 in one year!  When the time came to buy him more shoes, without hesitation, I went to the specialty shoe store again.  But this time, I didn't want to wait for the Saucony brand to come in and settled with Stride Rites.  A choice I will never make again.  The Stride Rite's just didn't have the stretch, flexibility and perfection that the Saucony brand offers.  Unfortunately, his new shoes didn't last long before making red spots on Carter's ankles and my shoe dilemma persisted.  I expressed my frustration with my aunt and she told me she wanted to buy them this time and to look for ones that would work.  I went back to the specialty shoe store, but found that they had closed early due to summer hours.  So I decided to take Carter somewhere that I had never taken him before.  Off we went to Foot Locker; a small doom in the pit of my stomach.  When we got there, the nicest man approached us and asked what we were looking for.  I asked him if they carried Saucony's in stock, which they did not.  He told me that they had a pair of Nike Free's that were similar to what I was wanting.  So I figured, "what the heck, let's try it out".  Once Carter had been sized and we discovered he had grown another shoe size in 3 months, the man was off to the stock room to get a pair for Carter to try.  As soon as I laid eyes on that bright orange pair of Nike's, I fell in love!  The man in Foot Locker probably thought I was totally crazy before I had explained the years of shoe grief.  I stood there admiring that shoe and saying, "it's so flexible and soft and adorable and it has STRETCHY shoelaces!!!"  The part of Cinderella came to mind when the kings men are slipping the glass slipper onto Cinderella's foot and it fit perfectly.  I could see the clouds part and all the shoe gloom dissipate.  When I called my aunt to tell her what perfect shoes they had, she told me to get him a pair in the next 2 sizes as well.  I cried right there in the store, but this time they were pure happy tears.  How do you explain a moment like that in the right words?!  This all happened over a week ago and it's taken since then for me to sit down and type this out.  It's these "small" things in this big journey that carry so much significance for so many reasons.  Out of all the atypical things that go along with a medically fragile child, a dilemma like shoes can become the tip off the iceberg.  I have tried for so many years to make Carter's life as "normal" as possible.  The man at Foot Locker made this shoe shopping all the more wonderful as well!  He asked me questions about Carter's disease and how old he is and listened to my story about shoes.  He even introduced Carter to his co-worker like he was just another friend of his.  It made my day!  What a funny thing a shoe is.

A very special thanks to my precious aunt who so graciously bought Carter these perfect shoes!  And a special thank you to my uncle who helped me find the first couple pairs for Carter's 4th birthday.  And thank you to the special man at Foot Locker for listening to my stories and treating my son like he was the coolest kid in the store!  It is because of good hearts like all of yours that my special boy has such amazing shoes and this momma has a peaceful, happy heart <3