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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My friends…

“The friend who can be silent with us in a moment of despair or confusion, who can stay with us in an hour of grief and bereavement, who can tolerate not knowing… not healing, not curing… that is a friend who cares.” ~ Francis Bacon

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THANK YOU!!  XOXO
Stacey

Missing boy..

Driving around my town tonight looking for a missing boy with special needs.  Hit a little too close to home for me.  So thankful for his family that he was found safe.  I cannot imagine what they must of been going through. Glad he is home safe and sleeping in his own bed tonight.

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Well child visit…

We took the kids to their well child visit last week.  I am always so excited to go to those appointments to see how much they have grown.  Nathan is now 5 feet tall and Madison is 5’4”.  I cannot believe how much they have grown over the years. We have had the same pediatrician since Madison was born and with all the issues we have had with Nathan, she really has become like a friend to us.

We have been in and out of so many doctor appointments.  To be honest, most of them talk at a level that is so high that it is hard to make sense of what they have been saying to me.  We have met with Geneticist, Neurologists, Ophthalmologists and counselors and more Doctors than I can remember.  They have always been very thorough in their information, but let’s be honest, these are SMART people.  They give you the information and we try to understand it the best we can, but a lot of the follow up is Jay and I doing our own research on Google.  That is just plain scary.  The problem with Google is that you put in symptoms and it spits out 500 different things that Nathan potentially is showing symptoms of.  Well that is a lot of information to absorb.  I have literally been walking around saying “everything is going to be ok”.  Anytime anyone asks me how Nathan is or how things are going, I just say “everything is going to be ok.”

So let’s back up to the pediatrician’s appointment.  She came in and did all the usual stuff that you do with a Well Child Visit.  Nathan loves this doctor, so the appointments always take a little longer.  She loves Nathan and really enjoys talking with him.  Her husband happens to be an eye doctor and she mentions that she always consults with her husband about Nathan.  Anytime we go to Children’s Hospital, the notes feed into her system so she has been following his progress.  Jay had asked her if she had seen the notes about the Cerebral Atrophy and Cerebral Lesions.  She said yes.  We finished up the appointment and Jay and Nathan went home.  I stayed for Madison’s visit.  

The doctor pulled me into another room and closed the door.  When she turned around, she had tears in her eyes and she started to cry.  She said, “I am so sorry for you guys.  I wish I could turn back the time.”  I am not really sure what prompted me to ask her, but I asked her point blank if she thought Nathan was going to die.  She told me that the part of his brain that is shrinking is the part of his brain that tells his body what to do.  It will tell his muscles to work, his bladder and bowels to work, his lungs to breathe and his heart to beat.  She said the problem is no one knows what is wrong with him yet, but that based on all the notes, the prognosis is not good.  She said this is definitely degenerative and that eventually his body will just stop working.  It was like being punched in the gut.  The sad thing is that I am sure I have heard these exact same words before, but hearing it from her in a way that made sense was the first time that I thought everything is not going to be ok.

Jay has been telling me for the longest time that I am in denial, and I don’t know that is the right word, but I definitely think I am choosing to think everything will be ok.  It has to be.  How could I possibly let myself imagine my life without my child?  It is not normal.  It is not natural.  I don’t want to live in a world without my children.  The sad part is I am slowly realizing that I may have to come to terms with that, but I just don’t know how.  

We have had so much support.  We have and amazing family, great friends and a great community.  We have had people bringing us meals.  They don’t have to, but they want to and that means so much to us.  

I do not have words for the depth of my sadness.  It feels like a piece of me is missing and I do not know how to get it back.  I would trade places with Nathan in a millisecond if I could and I can’t and it breaks my heart.  As a Mom, I am supposed to be able to fix things.  If he hurts, I fix it and I can’t fix this and I don’t know that I can forgive myself for that.  I also see the emotional toll this is taking on Madison and that scares me just as bad.  I don’t think she understands the full extent of what we are facing, but she knows how hard it is for Nathan and us.  She also knows how much she loves him and I think she has thought of her life without him and it makes her very sad, but she does not know how to express that.  Being in 6th grade is not the easiest time in a girl’s life, let alone to have this going on, she has a lot on her plate too.  

I am leaving tonight for a little getaway with some friend to Las Vegas.  I don’t remember the last time I took a vacation without my family.  I know I need to get away and have time to myself, but I feel guilty for leaving.  Jay needs to get away desperately too.  We are hoping to plan something for him soon.  It is hard that we can’t go anywhere together, but if this is what we need to do to have some quiet time to ourselves then this is what we will do.

I beg for your prayers for our family.  We are in desperate need of them.  We do not know what the future holds.  We unfortunately just wait and hope that when and if they find something with Nathan’s DNA; it is something that we can work with.  We pray that it is treatable.  We know that it probably won’t be curable, but let us be able to treat it and get as much time with him as possible.

Stacey