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.

Stacey

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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.

Stacey

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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.

Stacey

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Say a little prayer

Please pray for our family.   We are really having a hard time right now.  Nathan will be going in next Tuesday for a skin biopsy.  They will grow it for 3-4 weeks and then it will take another 3 months for results.   They seem to have a clue based on his last results, but still not a clear answer. If it turns out to be what they are looking at, it does not mean good news, it just means an answer.  
Nathan has been having some behavioral challenges we believe due to a medication change.  We hope that regulates very soon as it is causing some potentially serious issues.
I just plead with you for prayers for our little man and our whole family.
Thank you,
Stacey

Update

We went to Nathan’s eye appointment at the Hospital yesterday.   It doesn’t even seem possible,  but his eyes are worse than 3 months ago. He is completely light perception only and that may be generous to say that.   It was the first time his Dr. said that he does believe that he will go completely dark.   Then we will have more issues with his body clock becoming irregular as he won’t be able to tell day from night.  His Optic Nerve was more pale, which is a sign of more degeneration.   At this point. We are just waiting on our July 7th appointment to see if the DNA tests revealed anything.   Thanks for your thoughts and prayers.  I think at this point we are just numb from this all.

Happy 14th Anniversary

Today I have the joy of saying I married my best friend 14 years ago! 
We have encountered so much in our time together and I know the road will continue to be long,  but always worth the fight.

You are my best friend.  I met you at a time in my life that I needed you most.  I realized that you possessed so many qualities of the man I have always admired the most, my Dad.  You work hard for your family, you love unconditionally, you are gentle and you are our protector.  You are all I will ever need in this lifetime.

With you by my side, we can conquer it all. You love me even when I am unloveable. You let me sleep in when I am exhausted. You put the kids to bed when I have had a hard day or just don’t have the energy to take one more step. When you have had a long day at work, you stop by the store to pick up my long list of things I forgot to get without comlaining.  You make me coffee in the morning (one of my favorites), you don’t mind that I walk around the house in sweats with my hair in a pony tail. You love me and I love you. We have created this life for ourselves that I would not want with ANYone else. You have shown me what it means to be loved and I hope that you feel that love in return. You are the father of our beautiful children whom adore you more than I think you realize. You are the real meaning of what the word Daddy means. You have shown me love quietly and you have shown me love loudly. You are witty, funny, smart and have the best smile I have ever seen.

I know I am not always the easiest to get along with but you are patient and kind.  From the depths of my soul, I love you with everything that I have. We are one in this life and I am glad that I found you.

We have had smooth sailing and rough waters, but we have weathered the storms. I would never want anyone else by my side. I know that we face many battles ahead but am confident that together we will continue to grow stronger and fight harder. 

I love you with all that I am and look forward to the rest of our lives together.♡♡
Stacey

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