Happy 11th birthday!

Today, we celebrated Nathan’s 11th birthday.   Every day is special, but birthday’s are always fun.  Grandma came down to help celebrate and we went out to dinner.  Nathan was so excited to have them sing to him, but when they came to our table,  he became very shy.  I have never seen him behave that way before.   He usually loves to be the center of attention.  It was very cute.

Tomorrow,  we are off to Florida and heading out on a cruise.  We are really looking forward to spending some quality family time together and looking at the beautiful blue ocean water.
Thanks to all of you who continue to follow our story, it means alot.



How far we have come

I periodically read back through some of my old posts.  It brings back alot of memories.  Some good and some not so good. It takes me right back to what I was feeling in that moment.  I remember exact words of what doctors said, I remember what rooms looked like, what Nathan was wearing, if he was happy or sad that day.   It is amazing how words can throw me right back into that moment.

I realize how far we have come.  Nathan has made huge strides.  Some days it does not feel like it.  We see him everyday,  so the little things are a little harder to notice.  But when I read through this page, I realize he has come SO far.

He turns 11 next Wednesday and is becoming this little man right in front of my eyes.  He is 5’4″ and has the biggest feet I have ever seen on a child.  We are literally buying him new shoes every couple of months. He has developed this really cute sense of humor that makes us laugh.   He loves his sister so much.  He loves us and it makes my heart melt every time he hugs me.  Hugs are hard to come by with Nathan.  He will give you a hug on his terms. Usually a little forceful.   So when he gives you a real, gentle hug it usually brings tears to my eyes for these moments are so fleeting.  I just want to stay like that.  

We have our next genetics meeting on April 8th.  This will be the results of the full exome panel that they did.  They also took me and Jay’s blood.  So if there were any incidental findings we will hear those to.  There is a very real possibility that we will hear that they found nothing and they could have also found what they have been looking for all along.  If they find nothing,  we wait a year or two and try again.  The hope would be that science will know more later.   I would like an answer, but only if I can do something and we have pretty much been told we can’t.   I am torn.  I just have to trust.

We do have some exciting news coming up.  Stay tuned for an announcement soon.

Frank Cyril Lyons 1/8/1942-10/10/2014

I had the honor of giving one of Dad’s eulogies this week along with my brother and my nephew.   It was a privilege to be able to speak about my Daddy.  I still cannot believe he is gone and saying a final goodbye today was harder than I thought. Here is what I had to say.

My Dad has, and always will be, the one man that I have looked up to the most in my life.  I absolutely adored him and I feel incredibly blessed that he chose me to be his daughter. My parents adopted me when I was 2 months old and it just happened to  be the same year he was supposed to get himself a new truck.  Since they got me Dad had to postpone getting his new truck so he would often refer to me as his “little truck”.  
Through my Dad’s love and devotion to his family, I’ve become the person I am today.   There are no words to adequately describe how proud I am to call him my Dad.  Through the years there were so many life lessons that my Dad taught me throughout my life and I plan on passing them on to my children.
My Dad taught me the importance of honesty and integrity.   You stuck to your word no matter what and you did what you said you were going to do.  He believed in honesty.  Sometimes it was hard to hear what he had to say, but there was always a lesson to be learned or something to be gained from his honesty.  In some cases I didn’t even know the meaning behind what he was trying to teach me at the time until much later in life, but in my heart I always knew that he was right.
My Dad taught me the importance of having a good work ethic. He was always up at the crack of dawn and out the door early.  My Dad was a great leader and provider for our family so that my Mom was able to stay home and raise my brother and me.  Dad was incredibly organized and took pride in his home.  Anyone could look around to see that he put as much love into his home as he did everything else.  Our house at Christmas time was the most beautiful house I have ever seen.  I remember the hours of labor he would put in to making sure that every light bulb worked and he decorated every inch of the house complete with a custom built star on the roof for all to see.  It was purely spectacular and I will forever treasure those memories.
My Dad taught me the true meaning of unconditional love.  He taught me what it meant to be loved unconditionally and how to love others unconditionally.  I have never doubted how much he loved me or his entire family.  He set the bar really high as an example of what I wanted in a husband.  Dad truly loved my family and he loved my husband as if he was his own son.  My loving husband Jay adored my Dad.  Jay looked up to Dad as a Father and a mentor.  There were often times when Jay would be doing a project around the house and  would find himself not knowing what to do next or how to solve a problem, he came up with the saying “WWFD”.  “What Would Frank Do?”  And it was true, in any situation you were faced with you could just think, how would Dad handle this?  There were many phone calls that Jay made to my Dad asking questions about a project that Jay was working on.  My Dad loved nothing more than talking shop with others.  My Dad’s second home was Home Depot, Lowes and Harbor Freight.  Jay would often think he would literally go to the hardware store for no particular reason but just to walk around until he came up with new ideas for projects to do around the house.

Dad also loved his grandchildren with all of his heart.  He was so proud of Joshua, Tessa, Tyler, Madison, Nathan and Jace.  Nothing gave him greater joy than being surrounded by them.  He was so proud of each one of you and your accomplishments.  Now you can rest assured that he will continue to watch over you from above.  Please don’t ever think that just because he isn’t physically here with us that he is not with you because he now lives in your hearts.
Dad was a devoted husband and loved my Mom for 44 years.  The love they had for each other was like no other.  The example they set for my brother and me was extraordinary,  sometimes you didn’t think you could live up to that same kind of enduring love.  He would be the first one to tell you that he would not have lived as long as he had if it weren’t for my Mom.  She nursed him back to health more times than I can count.  She took care of him and he learned to better take care of himself because of her.  They truly were the perfect couple in my eyes.  I was so blessed to have witnessed their marriage.  I can only hope that I can provide the same example to my children that they have provided to me.
Dad loved the Lord.  He was passionate about his faith and freely shared it with anyone.  He prayed many people into heaven. One of the most amazing things about my Dad was if you asked him to pray for you or for someone whether he knew them or not, he DID.  He didn’t just say he would, he DID.  He had a paper list in his prayer room at home that he would write everyone’s names on and he would pray for each one of them everyday.  At the beginning of every school year, he would ask me for the names of my children’s teachers so that he could pray for them to help guide and teach my children.  I always found it sweet to see all of the names on it including ours.  I never understood why he would need to write our names down, but it was such a personal way for him to pray for each and every person that was in his life.  I can promise you that he has probably prayed for every single person heretonight on one occasion or another and whether you asked him to pray or not.    
An example of how devout and faithful my Dad was is when I was in labor with my son Nathan on March 24, 2004, Dad poked his head in the doorway around 11:50pm that night and said to the Doctor, “Hey Dr. if there is anyway we could hold off on this until after midnight that would be great because tomorrow is the Feast of the Annunciation”.  And wouldn’t you know it, Nathan was born at 12:01am on March 25th.  That is how deep his faith ran, that he wanted his grandson to be born on such an important feast day.  That is my Dad!
My Dad lived a life of suffering.  I can not even begin to tell you all of the things that has ailed him during is lifetime. But he’d always say “It is my cross to bear”. One of the things I admired most about him was that he never complained about any of his illnesses, NEVER.  He endured like know one I’ve ever seen.  He knocked on death’s door too many times to count but I take great comfort knowing in my heart that he was at peace when our Father called him home to be reunited with all of his loved ones who have gone before him.  
I will forever miss hearing my Dad’s voice.  Whenever he called he’d always start by saying “Hi Honey, it’s your little Daddy.”  Knowing this day would come eventually, I have purposely saved many of his voice mails that he has left for me over the past few years so that I could go back and listen to his voice at times when I need him the most or when I just need a reason to put a smile on my face.
There will forever be a piece of my heart that is broken and missing,  but I know where he is now and he is free from any more pain or suffering.  I LOVE YOU DADDY♡♡

The not forgotten child

I know I fill this space up with constant information about our son,  and rarely do I mention our beautiful daughter Madison.  Not because she doesn’t deserve every single word on the page, but she is more reserved and private about her life.  I try very hard to respect her boundaries.   I don’t want to speak about her if she is not comfortable.   In this day and age, she is much more technologically savvy than I am, and you never know when she might pop in and take a look.

With all that said, I have to take the time to write about her tonight. She is such an amazing young lady who suprises me daily with her grace, beauty, wit, charm, intelligence,  heart of gold…. I could go on and on about all of her qualities,  but any parent knows what I am talking about.

I had the pleasure of going to her parent/teacher conference tonight.   All of her teachers commented on what a wonderful student she is and a joy to have in class.  She participates and is a leader.  She helps her peers out and has really stood out to them as a great student.  I am beyond pleased to report that she is a straight A student! 

This year has definitely brought new challenges.   A new school, riding the bus, getting up extra early and meeting a whole new set of friends.  I would be lying if I said I didn’t worry.  It just seems so much harder on kids these days at a much younger age.  Who knows,  maybe it has always been this hard, but now I am the parent so of course it seems harder ;).

Times are different,  they have access to so much and we worry.  We have our nice little arguments over her phone and what is and is not allowed. Sometimes it is really hard to explain that just because other kids have things doesn’t entitle you to have it too.  We have very different rules than some of her friends and that has been hard to get across to her.  But overall,  we are very blessed to have a sweet daughter.

She has had a little hard time adjusting to not being in the same school as Nathan.  She worries about him so much. She knew she could always look out for him when they were at the same school and she has been a little unsettled at the idea of him being without her.  She loves her brother so much and he idolozes her.  They have always been very close and we hope that relationship will always continue to grow. 

Big stuff coming up as always.  We go on October 7th for his latest DNA testing results.  This is the one time I am praying that they don’t find anything.  It is such a double edged sword.  What they are looking for this time would be devastating, so we of course pray very hard that this is not it.  However, if they don’t find anything,  it just means another round that will take 4-6 more months of waiting. 

For all of those who have commented to me about what is “wrong” with Nathan, let me be very clear.  Nothing is “wrong” with Nathan.  We as parents are merely trying to figure out what is “causing” all these issues with him.  He is a wonderfully,  beautifully made child.  God did not make a mistake, he made my son.   I just want to know all I can to help him have the best life possible.  Wouldn’t any parent want that for their child?

After our appointment,  we will be leaving for our annual cruise. We are in desperate need of some R&R.   We have had our fair share of junk this year and need a break.  My parents have the wonderful job of house/dog sitting for us, but it helps to know that all is well here. 

Thank you to those who have reached out to me to see how we are doing.  I feel very disconnected from the world and the calls, texts and emails are very nice to get.

Thank you to all who read this and for loving my family.



A New Chapter

Tomorrow,  Nathan will start 5th grade.  The time continues to fly by.

This is an exciting year for Nathan that will be full of new challenges and opportunities.  This year Nathan will be riding the bus for the first time.  It will pick him up and drop him off in front of our house. This will make for a smoother transition in the mornings and afternoons. His bus driver did 2 test runs by our house last week and Nathan had a chance to meet him and get on the bus and walk around.  He seems excited about this new opportunity,  but a little worried that he will get to the right place:)  We have assured him that he will get to school!

We have met with his teachers and went and had his pictures taken.  I think it was good for him to be back in a familiar setting, but I could see a little anxiety creep up.  After the first hour, he will be great.

I have one thing I would like to ask of the people who know Nathan personally and see him at school. If you say hi to Nathan,  the first thing he will say is “who are you?”.  I ask that you please identify yourself.  Please don’t make him guess who you are.  When you see him, it would be nice if you said, “Hi Nathan,  it’s Stacey”.  It is hard for him to know all the voices, and I think it is kinder if you don’t make him guess.  Thank you.

We look forward to this year and hope to see a lot of growth.



Pyruvate Dehydrogenase Deficiency

Many of you have been asking what we found out at Nathan’s last appointment.   We were fortunate enough to be able to rule out some pretty serious diseases.   We are very thankful for that.

One number that came back high was Nathan’s glycine level.  The was a “clue” to the geneticist that we should follow that path versus doing a full xenome panel at this time.  He thought the number was significant enough to warrant pursuing that first.  A full xenome panel runs the risk of missing something since it looks at so much.

Tomorrow, Nathan will go to the hospital to have a skin biopsy done.  They will use a local anesthesia and use a scalpel to remove a small portion of his skin.  They will then grow it for 3-4 weeks and then send it to a lab for examination.   We then have to wait 3 more months for an answer on this test.  I think we are becoming experts at waiting, but I will say it is very trying.

There is one medication that Nathan takes that could be the cause of the high glycine level, which is why they want to look at the cells independent of the blood, it is more accurate.  

Because I am in no way close to being a scientist,  I am copying a portion of a website with the best explanation I have found of what we are looking at.  As you can see, it is still very scary, but we will deal with what we need to.   Please say a prayer for him tomorrow as I am sure it won’t be fun, but he is a champ and I am sure will do great.  Thank you all for caring about our family.

What is pyruvate dehydrogenase deficiency?

Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills, such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many people with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.

How common is pyruvate dehydrogenase deficiency?

Pyruvate dehydrogenase deficiency is a rare condition; however, its prevalence is unknown.