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Nicholas, Nathan, and Daniel’s Story

Welcome to our CaringBridge site. It has been created to keep everyone updated about our sons. Nicholas, Nathan, and Daniel have Mitochondrial Disease with a defect in Complex I. They were found to have a genetic mutation and polymorphisms on the ND1 mDNA gene. Despite dealing with Mito, they are happy, smart, mischevious, and loving little guys!

We have been travelling this medical road for quite some time now. We had been looking for answers to our older 2 boys' health issues for almost 5 years before we finally found a doctor who could help. After countless unanswered questions, endless tests, and dead ends everywhere we looked, our boys were finally diagnosed with Mitochondrial disease in October of 2007. When Daniel was born, he was diagnosed as well.

Nicholas was born prematurely at 35 wks.  He has had constant health issues fromt he start.  As a baby, he had reflux and motility issues that required a fundoplication and placement of a feeding tube and hypotonia that required therapy.  He used to wear AFO's. but is able to go without them now.  Recently, he has been dealing with a number of issues including gastroparesis that requires continuous j-tube feeds, possible cyclic vomiting, nearsightedness, hypotonia, immune deficiency requiring IVIG therapy, temperature intolerance, easy fatiguability, and disordered sleep requiring oxygen.

Nathan was born at 37 wks after preterm labor began at 26 wks.  He had severe muscle tone issues from birth as well as reflux.  He was very delayed in all his motor milestones and speech, but caught up by the time he was 3 with everything.  He used to wear AFO's as well, but no longer needs them.  His reflux progressed to the point where he required a fundoplication and g-tube placement due to reflux damage to his vocal chords (causing vocal nodules and severe irritation and inflammation) at age 6.  Recently, he has been dealing with a number of issues including slow motility, nearsightedness and optic nerve issues, hypotonia, immune deficiency (previously requiring IVIG therapy), migraines, leg pain, temperature intolerance, easy fatiguability, and disordered sleep requiring oxygen.

Daniel was born at 38 wks and had issues with reflux right away.  He has had relatively normal motor development and had speech therapy until age 3.  He will need speech again when he is older, but we are waiting to see if he outgrows any of it.  He has had the most trouble with arthritis and requires long-acting steroid injections to combat pain and swelling.  Recently, he has been dealing with a number of issues including reflux, slow motility, slight hypotonia, arthritis, immune deficiency, temperature intolerance, easy fatiguability, and disordered sleep requiring oxygen.

None of the boys let their Mito slow them down.  All 3 take TaeKwonDo and the older 2 have earned World Champion titles based on their performances at tournaments.  They enjoy all the normal boy stuff like watching every sport imagineable on TV and in person, reading, playing outside (as the temperature allows), taking day trips to do fun things, playing with their dogs Bella and Sully, and watching movies.  Nicholas wants to grow up to be a sportscaster or commentator, Nathan wants to be a baseball player, and Daniel wants to be a policeman.

Latest Journal Update

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Today was certainly an eventful day!


Nathan has been having issues focusing on and off since he was 4.  It is something that I always ask his teachers about and everyone has had concerns, but not overwhelming concerns and not enough for them to say we need to pursue looking into the reasons behind these issues.  He is not acting out or getting in trouble...he just seems to lose focus and does not complete his work in a timely fashion all the time.  He is also VERY wiggly and fidgety.  Every year I kept waiting for it to become a bigger problem and it finally did this year.  He was bringing home marks almost daily in his folder the first marking period.  He only earned 2 out of 3 stars for his belt in TKD for the first time ever.  His grades started slipping...and his teacher wanted a conference to discuss things.  I talked to several other Mito moms about this and discovered that some of their kids had issues similar to Nathan's but they were NOT due to ADD/ADHD...they were due to their bodies trying to compensate for their autonomic dysfunction. 


At our next appt with Dr K, I talked to her about what we had been seeing and asked for her thoughts on it...she recommended talking to our ped about getting him evaluated for ADD/ADHD.  I asked her about autonomic dysfunction and she did not think that was the cause.  I asked her about the tilt table test and she did not think he needed it.  I told her I was not opposed to medicating him, but if we were going to add in a new med, I wanted to be sure it was the right one to treat the right thing and I asked her if she would reconsider and order the tilt table test.  She said because "I do not ask for much", she would order it.  I honestly think she did it to appease me, not because she thought it was necessary.  It has been a very long 3 month wait for this test to be done, but we finally got it done today.


What did it find?  He DOES have autonomic dysfunction.  And, had we just gone ahead and treated him for ADD/ADHD, the results could have been bad...the meds for ADD/ADHD cause the heart rate to increase.  His is already increased from the autonomic dysfunction.  Put the 2 together and you can end up in a really bad situation for his heart.  I was SO relieved that I pushed for this test to be done...I could have never lived with myself if he had developed heart issues because we treated for the wrong problem with the wrong med.


The test was relatively simple...he got hooked up to all these monitors and wires and blood pressure cuffs and those monitored all sorts of things: adrenaline levels, blood pressure in his arms and index/middle fingers, muscle movement in his back, heart rate, and some other things I don't even remember.  Then, he was strapped to the bed.  During the baseline where he just got to lay flat, he did fine.  After that, they raised the bed up until he was just shy of vertical.  This was when he started getting restless and fidgety.  He complained of his head hurting about 2 min in and then complained of his legs hurting about 5 min in.  He told them he wanted to stop and get down because his legs bothered him.  They laid the bed back a bit to make him more comfortable, but that did not help for long.  At that point, he started asking "How much longer" about ever 2-3 min, squeezing his eyes closed, opening and fisting his hands repeatedly, fidgeting with the wires, and had his eyes darting all over the place.  It was hard for me to watch, knowing he was so uncomfortable.  I finally took his hand to see if I could calm him and his palms were soaking wet.  I had to keep wiping my hands on my pants because they would get so sweaty from his hands.  He also complained of feeling "nervous".  Somehow he managed to stay upright the whole 30 min and then he sighed with relief as soon as they laid the bed back and he was able to complete the remainder of the test lying down.  The neurologist asked him if he felt better when he was lying down and he responded with an emphatic YES!


After he was unhooked and eating a snack, the neurologist who had been there to monitor the test explained the results to me.  His heart rate increased while upright, but his circulation had dropped.  His adrenaline was higher upright and had a noticable spike as the bed was raised.  This adrenaline rush was responsible for his sweaty hands and the feeling of being nervous.  His muscle activity also increased while upright.  He had many of the markers of autonomic dysfunction present during the test.  The neurologist put him on a med called Florinef, which causes his kidneys to retain water, thus increasing his blood volume and raising his blood pressure.  He also recommended that he eat salty snacks and foods throughout the day and make sure that he is fully hydrated to ensure his blood volume is higher.  All those fidgety wiggly behaviors were caused by his body struggling to get his heart rate up and create adequate blood flow to his brain.  When his circulation dropped as he was upright, his body had to compensate by his heart working harder and his body needing to move to get his circulation to improve.  Hopefully, with the addition of this med, his circulation will improve while he is upright and we will see a decrease or even disappearance of these ADD/ADHD-like behaviors.  We are to follow up with this neurologist, who will now be following him for the autonomic dysfunction.  After asking about and discussing my other boys, he recommended getting Nicholas (for sure) and possibly Daniel tested for this as well because autonomic dysfunction is hereditary and, according to him, if one has it, more than likely others have it as well.


This is one instance I am really glad I did my homework, followed my instincts, and pushed for something I thought was necessary for him.  I really just wanted to rule out any other possibilities before pursuing an ADD/ADHD dx, but it ended up being the dx instead.


My nephew did really well during his surgery.  After we left last night, he was up and walking around and he got to eat some crackers and ice cream.  This morning, he was doing so well, the surgeon discharged him to go home just before lunch!  He was so happy to be back home and spent most of the day sleeping off his hospital adventure.


Thanks for checking in on us.  We appreciate all your support.  Take care and God bless!