Mitochondrial Disease Awareness Week 2015 Part 2; It Can't Just Be Autism?

In the world of Mitochondiral Disease you often hear it referred to as the hidden disease. It is true. If a child looks healthy then a headache or muscle pains might seem like just growing pains. How can a child who looks so good be really sick on the inside? My family has struggled with this particular issue for years. Due to my son being generally attractive to the eye everyone assumed he was healthy as a toddler. It took me years to get my son the testing he needed because he looked "too healthy". Despite the fact I kept asking all the right questions, I was get no were except disapproving medical personnel asking, "First time Mother?".

Without testing no one knew for certain it was my inexperience as a parent or great parental instincts that kept me persisting in getting my son tested. For years my son Alex was undiagnosed because he "looked too good.". I do not mean to sound conceded. Every child is beautiful but mine was such that no one could see his suffering but me. I will include a picture of him and you can tell me if he "looks to good" to have mitochondrial disease to you. Before you answer I will tell you my son, Alex, has Mitochondrial Disease.

It was really frightening because doctors really thought I was just making it up or worse. The things that I had been accused of were unimaginable when all I wanted was to get my child the help he needed. I thought the medical establishment had completely gone to the dogs. One night Alex had a 103 fever and he began breathing funny. I tested his blood sugar and it was 600. My Mother begged me not to take him to the emergency room, She told me the State of Florida would take him from me for seeking medical attention for Alex. I look at her with such clarity and she was old and frightened. I said, "If I seek medical attention for him and they take him then they are wrong but if I do not I have neglect Alex and I deserve to lose him for being an unfit parent.". Alex had pneumonia and an infiltrate in his lung. He was hospitalized for five(5) days and sent home on IV antibiotics. I have never regretted that decision. Nor will I ever regret advocating for my son who has both Mitochondrial Disease and Autism.

After two years of fighting his diagnosis of "looking too good" to have mitochondrial disease I finally changed neurologists and he was diagnosed with Autism. Alex obtained the MRI and even before the MRI his treating physicians insisted he still did not have Mitochondrial Disease because he appeared too healthy even though we knew he had both lactic acidosis and renal tubular acidosis since he was an infant which should have been a huge red flag. He really did look healthy. Quite frankl, that was back in 2002 and not a lot of doctors knew about Mitochondrial Disease. As a parent I knew nothing except that I would study night and day until I understood and was capable of being the best Mom possible to my son. So hear me clearly, I do not blame anyone for not knowing as I still do not know everything there is to know about Mitochondrial Disease. No one does which is kinda of one of the reasons for Mitochondrial Disease Awareness Week. Even today we are still struggling with Mitochondrial Disease Awareness so that the medical community and the world just knows about "Mitochondrial Disease.".

I was a special educator before I was a Mom who specialized in verbal behavior for children with autism. The word "Autism" did not frighten me like the other parents. I was friends with. Many of them were nurses and teachers. I remember one Mom crying in the park with me as she told me her son might have...(she could not bring herself to say the word; Autism). I looked at her and smiled and looked at her child who was three, non-verbal and did not make eye contact. I reached for her hand and held it and told her my son has Autism and saying the word "Autism" did not give it to him. She cried but was relieved she was not alone. For me that was an easy day because I knew two much worse words than Autism those two words were Mitochondrial Disease. However I did not know they were related illnesses.

But where my son's good looks hid his Mitochondrial Disease his Autism buried it. So after the diagnosis of Autism, everyone wanted to treat the developmental disorder instead of the underlying cause except a few doctors including Dr. Bruce Cohen. Dr. Cohen knew that the Mitochondrial Disease had to be stabilized first and foremost. But in Florida, I suddenly had a committee of strangers who knew absolutely nothing about the Disease and kept butting in and telling us how to live our lives. This too was a complete source of irritation because there were expectations of me as a parent of a child with Autism without consideration to the fact that Alex had Mitochondrial Disease as well. I had to organize our lives in away that did not compromise my son's safest and well being. This is how we adapted and survived. There was not even a billing code for Mitochondrial Disease back then and there were nurses who thought they knew more than experts in the field of mitochondrial medicine?? I was being torn in fifty different direction but the only path I followed was taking care of my son just like when he had the 103 fever and the 609 blood sugar. To hell with other people's insensitive opinions and inhumane suggestions. Why did we have to live our lives according to what other people thought when I consulted the experts? This is why awareness is so desperately needed. Without awareness there can not be compassion or humanity towards those affected and their families.

So thus it went we left the world of the undiagniosed and entered the world of Mitochondrial Disease through the Diagnosis of Autism. However instead of doctors seeing them as related they were considered two completely separate disorders. Even though both of them were considered to be neurological conditions no one saw the connection back in 2002. Well atleast no one we knew saw the connection.

So we were Torn in many directions again. Straight Autism I could handle. I had work with other people's children who had autism as a profession. I could certainly handle my own. But it wasn't just straight Autism. Every time Alex would get sick he get really sick and digress. I call it the slide backwards. His autism actually became much worse before he became ill. His sensory integration issues became far worse and he had behaviors associated with blood sugars being elevated. This came to be known as his pre-illness syndrome. Sometimes when your a Mom you feel like you doctor is a teenager and not matter what you say they just think you are stupid. It is okay. Everyone is entitled to their opinion just like I am entitled to pick my son up and walk right out of the doctor's office that is not listening. Fortunately, with one maybe two exceptions, I have not had to do that in the past four years. Alex has had very very dedicated physicians.

His physicians now are in tune with treating the Mitochondrial Disease and his secondary autism. It is an assumption the autism is secondary but given he spoke when he was little and is silent now, it is a good guess from a non-medical person.

So now everyone agrees Alex has health issues but the degree and certainity is still up for debate. My answer to this as all parents should be is the person paying for and attending the funeral makes the final decision. Parents are the best guards of their children. Anthropologically, we are wired to make certain our children survive even if it means our own suffering and demise. For a lot of parents of children with Mitochondrial Disease this will just not be possible. Not matter how hard they try, how much money is thrown at treatments; they will lose their children.

The first step is awareness. It is estimated in the paper cited above that approximately 5% of individuals diagnosed with Autism have Mitochondrial Disease as well. This is more than likely a very low estimate because Mitochondrial Disease is considered a rare disorder and as such public awareness is low. That can all change with you. YOU have the ability today to make all the difference in the world just by doing a few simple things. I am going to ask you participate this week September 20th-26th in Mitochondrial Disease Awareness Week. But I am not going to ask you to do anything more than you are already doing.

1) You are on the computer so sharing this article with your friends and through every social media site you have accounts that will only take at best 15 minutes of your time.

2) I am placing a different ribbon on this article and where I would not divide Mitochondrial Disease and Autism, by displaying this ribbon you are making your friends, family and associates aware that you support Mitochondrial Disease Awareness Week as well as acknowledge the link between Mitochondrial Disease and Autism.

3) I am going to ask you to talk about it. Start the conversation about Mitochondrial Disease which will effect 1 in every 30 children by the age of 10 but also 1 in 200 people have genes that could readily mutate into Mitochondrial Disease. I could write an article on the link between Parkinson's and Mitochondrial Disease or Alzheimer's Disease and Mitochondrial Disease but that does not immediately impact my son's life. I could also write an article on Cancer and Mitochondrial Disease but that wound is still too fresh as I recently have lost my Mother to Cancer and my Dad has had and will succumb to Cancer at anytime. Today I can write about the link between Mitochondrial Disease and Autism. If you can start the conversation I can refer you to the appropriate websites that can explain it in more scientific terms by the medical experts.