We are coming off Mitochondrial Disease Awareness Week and finished up with a fun-filled Savannah's Hope Walk. Savannah was 17 years old when she passed away. She had a few quirky health issues during her childhood but, nothing the doctors could really piece together. In May of 2007, Savannah started having uncontrollable seizures. Four days after her first seizure, she was placed in a medically induced coma. Exactly three months later, she passed away. Her parents did not get a Mitochondrial Disease diagnosis until after her death and were devastated that had they known her diagnosis before she suffered her first seizure, her medical care could have been handled differently and possibly her life would not have been taken so soon.
Five years ago, Rolland and Willie (Savannah's parents) started Savannah's Hope to help educate doctors, hospitals and families about Mitochondrial Disease as they do not want another child to be a "mystery patient" like their daughter. Each of the last five years, they have held a walk to honor their daughter, help raise awareness for Mitochondrial Disease and to help families living in Iowa with medical costs incurred from seeking medical care out of state. They have been a huge blessing to our family and we are blessed to have them in our lives. Please pray for Rolland and Willie and all of the families who have lost loved ones to this disease.
Some of you may be reading this and wondering "What is Mitochondrial Disease?" Since we are finishing up awareness week, I will give you a little crash course and do my part in educating you about this disease that has affected our family.
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.
About 1 in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. Many diseases of aging are caused by defects in mitochondrial function. Since the mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cellular functions, if there are problems with the mitochondria, it can lead to many defects for adults. These include Type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer. Many medicines can also injure the mitochondria.
Below are the two different ways Mitochondrial Disease is inherited.
Maternal inheritance
A mother with a mitochondrial DNA gene mutation will pass this abnormal gene to all of her children. The children will all be affected, with different degrees of severity. This is called maternal inheritance.
This does not mean that the children are going to be affected in the same way as their mother. It is not possible to predict how the children will be affected. This creates a lot of stress for those who are planning a family.
Autosomal recessive inheritance
The nuclear DNA in mitochondria is inherited from both parents (half from each parent). Mitochondrial disease can be passed on only if BOTH the mother and father are “carriers”. This means that they carry the mutated gene, but not the disease – so they don’t have any symptoms. This is called autosomal recessive inheritance.
When both parents are carriers, there is
- a 25% chance of having a child with the disease
- a 50% chance of having a child who is a carrier like the parents (has the mutation, but not the disease)
- a 25% chance of having a child that is not a carrier and does not have the disease
In our family's case, it is almost certain that we have an Autosomal recessive inheritance. Unfortunately, at this time, we do not know which exact gene mutation we have.
At this time, there is no cure for Mitochondrial Disease.
Thanks to
www.umdf.org and
www.mitocanada.org for the educational information above. :)
Now this paragraph is being written 24 hours after the above. As I was typing (well copying and pasting) the educational material above, I received a call from our Geneticist's office in Pittsburgh. When we were there in June, we discussed at length about having whole exome gene testing done on both the girls and Matt and I. We all left blood samples there anticipating the test. They submitted the request to our insurance company and it came back with our out-of-pocket expense for the testing in the thousands of dollars. Needless to say, we were bummed and declined the testing. Thankfully, our Geneticist's office did not give up and followed up with our insurance company again and asked for them to make an exception. To make a long story short....they agreed and we can now have the gene testing done with no out-of-pocket cost! Needless to say, I was in tears...
Praise God!
What does this mean? This means we have a 30% chance of finding what gene mutation we have passed on to the girls which caused their mitochondrial disease. 30% is the number they quote but, our doctor has seen better numbers than that in the testing they have done in the past. This means that if the mutation is found, we can have Delaney and Mason tested to see if they are carriers of the gene. This could also finally give us a definitive diagnosis for our girls and in the future if clinical studies are needed for patients with their type of disease, they could take part. They can also use this information for research which will one day hopefully make them one step closer to finding a cure. This is definitely a step in the right direction for our family and we are thankful that our doctors were willing to fight to help us get the testing done!
So now when you hear the words "Mitochondrial Disease" you can say you have heard of it and you may even be able to tell someone what it is. Hopefully sometime in our lifetime, we will be able to celebrate the day a cure is found. If you want to learn more, I encourage you to click on either of the links above as they both have a lot of great information.
