Saturday, January 17, 2015

How long did it take to know you had mitochondrial disease?

How we found out we had mitochondrial disease is a loaded question. There were clear signs for years but medical science had not caught up with the disease.  My hubby and I after lots of prayer and thoughtful discussion with our mito drs decided that a muscle biopsy would not be in the best interest of the kids. The whole family was placed into the 'suspected mitochondrial disease' category.

So we waited…. 7 years.

During those year all sorts of other medical issues were ruled out. From the simple with an odd presentation to the weird genetic outliers. We went to see a second opinion at a huge hospital with a great reputation. He agreed that we just needed to treat what we saw and wait. After several years being followed by a mitochondrial specialist and with labs and presentation all pointing towards mito we were put into the 'probable mitochondrial disease' category.

So we waited.

Then we were told about a research opportunity that our family of 6 affected would be perfect for. We all had a cheek swab. It was one of the simplest test we had ever taken with no pain. Swabbed the inner cheek put the samples on dry ice and shipped them away to Philadelphia.

And we waited.

Then one hot June day while I was preparing to speak at a conference my husband called to say we got the results. ALL of us were so depleted in complex 1 and 3 that it was assured we had mitochondrial disease. The dr had us ALL redo our testing to be sure of the results.

And we waited.

The repeat tests were the same. We have mitochondrial disease. Finally a diagnosis. 

With those results in hand our mito specialist was able to order more specific results. We were immediately put into several research groups given the size of our family and the tight grouping of our symptoms.

Now for those that don’t know research testing is for the DOCTOR'S education not yours. If you are lucky you will get results but they come back on a scholars pace if at all. One test has been out 3 years.

Private testing which has blossomed into a lower cost patient based industry is much more responsive. We have had testing through private genetic labs and the testing was back rather quick, never as speedy as they told us, but still timely.

Here we sit 9 years later with a diagnosis of mitochondrial disease. No it does not have a specific name just a long tangled set of letters and numbers. Connections to specific complex deficiencies. And frankly questions attached.

The world of genetic testing is opening up and becoming a wonderful way to diagnosis and help us all dealing with genetic diseases. The down side is there is SO MUCH information flooding the doctors right now that it can be difficult to glean what is important and what is not hurting your health at this time.

Each person and family with mitochondrial disease has to travel this long arduous diagnostic period (at differing speeds.) You can be relegated to that horrible land of ‘probable or suspected mitochondrial disease.' Suspected means there are several other possible options that must be looked into but mito should not be ignored. Probable generally means everyone thinks you have mito but they just don’t have a specific lab or they are not willing to diagnosis on clinic means. That leaves you struggling every ER run with doctors that don’t believe you. That means that you don’t fall into research testing or treatments. I HATED that 7 years of limbo land.

While I did not want to have mito, we do. Since we do I want to be clearly diagnosed and now we know what we are fighting. Now I want the whole medical team from the kids to my adult team to work as hard as possible to keep us stable if not progressing!

Mito will never win. I choose to not allow that. It might hurt my body but it will never hurt our spirit!