Sunday, March 02, 2008

Diagnosis: Mitochondrial Disease

In late November 2007, we received a report from Dr. John Shoffner in Atlanta. We took Roxie to meet with Dr. Shoffner in August of the same year, and he used tissue from a muscle biopsy, spinal fluid, and blood samples for the workup which would determine if Roxie had a Mitochondrial Disease. The report read like Greek to us, and we didn't realize (since we aren't neurologists or biology experts) what it meant for Roxie until recently. While Roxie was in the Pediatric ICU in January of this year -- to treat RSV and pneumonia that triggered breakthrough seizures -- a doctor there (the fabulous Dr. Johnson) read the report and explained to us that Roxie apparently does have Mitochondrial Disease (Complex I and III) and consequently we learned a little about what that means. We have not had a follow-up appointment with a specialist, so thus far all of our information has come from Dr. Johnson, from Roxie's neurologist Dr. Nelson, from researching online, and from parents of children with Mitochondrial Disease ... so I will do my best to explain what we know. While we are on a waiting list to find out when we can meet with Dr. Shoffner again (the best they can tell us is "by this summer" ... and yes, this is extremely frustrating), we hope to take Roxie to meet with another mitochondrial specialist, Dr. Bruce Cohen, at the Cleveland Clinic in April who can help us further understand Roxie's diagnosis and how the disease may affect her in the future.

--------------------------------

The following explanation was copied from the United Mitochondrial Disease Foundation's website.

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

--------------------------------

That is a basic explanation of general Mitohondrial Disease. However, there are currently 50 known types of Mitochondrial Disease and each case is different. We know that Roxie has defects in Complex I and Complex III within her mitochondria. I have learned that there are five complexes that take place within the mitochondria and each one takes part in the production of ATP which is what the body uses for energy. We now believe the disease has caused Roxie's low muscle tone, epilepsy, developmental delays, and sensory integration disorder and has left her body in a fragile medical state. We hope to learn more about her specific case when we meet with Dr. Cohen at the Cleveland Clinic in April. I mailed Dr. Cohen information about Roxie's medical history as well as the results from Dr. Shoffner's office.

Currently there is no cure for Mitochondrial Disease. There are a few treatments which have shown the potential to slow the progression of the disease in some patients. Roxie is now taking CoQ10 and Carnitor supplements to try to treat her disease and the hope is to prolong the life of her cells. There is a lot of research going on right now that could potentially help Roxie in the future. So we have hope and we are so blessed each day that we have Roxie with us and in good health.

4 comments:

Deepti Sidana said...

Hi,
My Name is Deepti Sidana and I came upon your blog by chance.My son,at one time used to attend Metro School and last night ,I was doing some research on Metro and in google images,I could see Roxy's sweet face.That lead me to your blog.
I am a fellow special parent.My son used to attend Metro in 2008-2009 and then he was a homebound student,as he was getting very sick.
I know all about the frustration of facing mitochondrial disease and not having any answers.My son had degenrative Mitochondrial disorder-"3-Methyl Glutaconic Aciduria-Type-4".We had seen Dr's in Duke and a Genetic specialist in Charlotte(Dr.Edward Spence).We were in line to see Dr.Schoffner but before that things changed for worse.
Just wanted to let you know that you and your family will be in my thoughts and prayers,especially Sweet Roxy.You have a wonderful day.

Anonymous said...

I am bold enough among many others to state that there is now a potent cure to this sickness but many are unaware of it. I discovered that I was infected with the virus 3 months ago, after a medical check-up. My doctor told me and I was shocked, confused and felt like my world has crumbled. I was dying slowly due to the announcement of my medical practitioner but he assured me that I could leave a normal life if I took my medications (as there was no medically known cure to Herpes). I went from churches to churches but soon found that my case needed urgent attention as I was growing lean due to fear of dying anytime soon. In a bid to look for a lasting solution to my predicament, I sought for solutions from the herbal world. I went online and searched for every powerful trado-medical practitioner that I could severe, cos I heard that the African Herbs had a cure to the Herpes syndrome. It was after a little time searching the web that I came across one Dr Itua(A powerful African Herbal Doctor), who offered to help me at a monetary fee. I had to comply as this was my final bus-stop to receiving a perfect healing. My last resolve was to take my life by myself, should this plan fail. At last it worked out well. He gave me some steps to follow and I meticulously carried out all his instructions. Last month, to be precise, I went back to the hospital to conduct another test and to my amazement, the results showed that negative,Dr Itua Can As Well Cure The Following Desease…Cancer,Hiv,Herpes, Hepatitis B,Liver Inflammatory,Diabetis,Fribroid,,Non Hodgkin Lymphoma,Skin Cancer,Uterine Cancer,Prostate Cancer Dercum,Infertility,fibromyalgia,Get Your Ex Back,Als,SYPHILLIS,Genetic disease,Epilepsy, Parkinson's disease..You can free yourself of this Herpes virus by consulting this great African Herbal Doctor via this e-mail: drituaherbalcenter@gmail.com or call and whatsapp him on +2348149277967 He will help you and his herb medication is sure. he has the cure on all disease .You can talk to me on INSTAGRAM..tashamoore219....

Alarico Adalbert said...

It is no secret that I have a very deep and personal relationship with God. I have pushed and resisted that relationship this past year through all the bullshit I have had to go through living with Herpes but once again, God is bigger than my stubbornness and broke through that outbreak cold sore and all I had Genital Herpes. For me personally, hearing over and over how I am not good enough has really invaded my mind in the worst way possible. I completely shut down and I was just waking up like is this how life going to end this temporary herpes outbreak “fuck everybody with herpes if you know what I mean” but let's be honest here...
It is a cowardly to say no to herbal medicine. It is fear based. And it is dishonest to what my heart wants. Don't build a wall around yourself because you are afraid of herbals made or taking a bold step especially when it's come to health issues and getting cure. So many young men/ women tell me over and over that Dr Itua is going to scam me but I give him a try to today I feel like no one will ever convince me about herbal medicine I accept Dr Itua herbal medicine because it's cure my herpes just two weeks of drinking it and i have been living for a year and months now I experience outbreak no more, You can contact him if you need his herbal medicine for any such diseases like, Herpes, Hepatitis, HIV, Epilepsy, Infertility, Love Spell,. Email..drituaherbalcenter@gmail.com then what's app.+2348149277967.... My advice to any sick men/women out there is simple... Be Always an open book. Be gut wrenching honest about yourself, your situation, and what you are all about. Don't hold anything back. Holding back will get you nowhere...maybe a one way ticket to lonelyville and that is NOT somewhere you want to be. So my final truth...and I'm just starting to grasp this one..

clad hagel said...



Am jeremiah, I am testifying about a great hebal man that cured my wife of KIDNEY FAILURE AND hepatitis B and liver cirhosis. his name is Dr oniha. My wife was diagnose of hepatities two years ago, i almost spent all i had then, until i saw dr oniha recommendation online, and i call him, then he told me how to get the herb. You can call him on +2347089275769 or email him at dronihaspell@yahoo.com