The Green Monster in the Family Tree

When you get that diagnosis of mitochondrial disease it it hard. You work through the tough questions in your immediate family. The medical adjustments that have to be made. Finally you face the moment you realize that you have to tell the rest of the family that there is a monster lurking in the family tree.

Mitochondrial disease is passed genetically in several different ways. This is a complicated part of the disease, so complicated many doctors we don't fully understand it. Our knowledge of how mitochondrial disease is passed from parent to child, or a spontaneous genetic problem is changing. As medical science advances medical researchers are able to give us a better more detailed look into the genetics of mitochondrial disease.
Here is the explanation of mitochondrial disease genetics by the experts:
Inheritance and Genetics
The Genetics of Mitochondrial Disease
If you or your child has been told they have mitochondrial disease it is important to find out what type of inheritance pattern the geneticist believes or knows is happening. You should also ask them who in the family needs to be told for medical reasons and what exactly you should tell them. Genetics doctors and their staff should be very adept at helping you. They are dealing with not just mito but many other genetically passed diseases everyday. It still all comes down to you having to talk to your family.
A few helpful tips to try to ease this difficult conversation:
1) Don't have this talk on a major holiday.
2) Have it when you know things are going to be quiet and calm.
3) Try to have this conversation with back up help from your wife/husband.
4) Keep it simple. Be clear and to the point. Then have your family ask questions. That way when you are done talking everyone has the information they most wanted.
5) Finally take something solid like a book, pamphlet, or a website for your family to go to later. Most family members will not ask hard or emotionally loaded questions because they don't want to hurt you. By giving them another source(s) to turn to they can read through a book, pamphlet, or website for those answers later.
This isn't an easy conversation for any family. Also with mito there is so much gray area where you won't have the answers. This at least is a starting point for you and your family.

Why does diagnosing Mito take so long?!

"when you have eliminated the impossible, whatever remains, however improbable, must be the truth" Sherlock Holmes

It took my family 6 years of hard searching with highly qualified doctors to find out that we had mitochondrial disease. At first there were a lot of possibilities the genetics doctor and other doctors suggested. The children went through all sorts of testing and blood labs.

Then there was the wait after a test went out. Was it going to show the problem or were we waiting yet again for a negative finding or worse an ambiguous finding that required more testing.

I hated making my children take more and more tests. Slowly the possible problems were cleared from the table. Eventually the only disease left was mitochondrial disease.

After a couple years of that being the only possibility but still no diagnosis my husband and I were stumped. Why not diagnose the kids? One doctor said I won't diagnose your daughter with mitochondrial disease because then there is no hope. How wrong that doctor was. A diagnosis of mitochondrial disease is NOT a no hope situation.

It is serious.

Another doctor we dealt with said that the mito community was moving towards only diagnosing people when their was black and white lab evidence, therefore anything less was not diagnosable. Again not exactly true if you look at the DSM, Cleveland Clinic's criteria, and other main stream specialists.

Eventually testing for mitochondrial disease took a huge leap forward and we were clearly diagnosed. Not long after getting those results back I (a 35 year old had a large stroke). Soon none of our doctors could deny we had mitochondrial disease. Like the Sherlock Holmes saying, "when you have eliminated the impossible, whatever remains, however improbable, must be the truth" Mitochondrial disease was what we were left with.

It took years of searching and eliminating other possibilities. For us that is why it took so long for a final diagnosis of mitochondrial disease. The good news is, with the recent leaps in testing that LONG wait is being cut down to months or less! The best way to reduce your wait to find out if you have mitochondrial disease or a disease like mitochondrial disease go to a specialist in metabolic/mitochondrial disease. These specialist are often in a position to tease out which tests will be the most revealing and clarify your situation promptly. There are still times when being diagnosed with mitochondrial disease is an exercise in removing everything else it COULD be, to find what it is.

Ways to save money: Starting with the Insurance Company

I know everyone loves to throw darts at insurance companies. I am not going to defend them. They have worked hard to get most of their reputation. Remember though that the people working for the insurance companies are just like you and me.

1) Talk to your insurance company! Contact your insurance company and get a caseworker. That way you are can talk to ONE person and work your way through the various ups and downs of medical needs and bills. Your caseworker should be able to pre-approve needed visits, equipment, out of network issues, etc. 2) READ your insurance policy! Call the insurance company if there is a gray area. You want to be sure you know exactly what is in-network, out-of-network, covered under therapy, durable medical goods, what do they consider clincal trials. Make a list of exactly what affects your medical condition and look for those parts of the policy. 3)Do not try to blindside your insurance! I have had friends go to a hospital they knew was outside their insurance but they hoped was better for their child. They thought that once they were there they could talk the insurance into covering them in the hospital. WRONG. That just means you have to pay more money. 4) Know about and use the appeals process! I live hours from a large city and many of my old insurance's in-network mobility providers. I found out that I could appeal their out of network status of a local mobility provider based on distance and my inablity to get to the large city. I was also able to use an appeal to get in-home therapy because of my condition. I had to provide doctor letters. 5) Understand that your hospital and your insurance company have a deal. Your insurance company should send you a letter that says, "You owe General Hospital $341.00" If the hospital bills you for more then that you need to make some calls and find out why. 6)Look over all insurance claims, and bills! We have found thousands of dollars of billing errors over the years. Simple things like billing the wrong insurance company, the wrong child's name, or social security numbers that are wrong. 7)Never accept that a mistake on the insurance company or hospital's side means you have to pay. I was told that I had to pay for the entire amount of one of my child's births because our old insurance company falsely okayed coverage, then denied 2 years later. The hospital then turned to us for pay despite the fact that at the time of the birth we provided the right insurance company. We had to press the issue but they finally billed the correct insurance and all was taken care of. During this all we were told that despite their mistake because of the length of time involved we HAD to pay. While I am not a huge insurance fan I would MUCH rather have the insurance of my choice then none at all. I highly recommend using a large dose of politeness and honey when talking to your insurance representatives or caseworker. They have information you need and could make your life better. When you are looking at your medical bills and trying to pare down the expenses. Start with your insurance!