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!
Now lets move on to steeply discounted--
Mighty Mito Superhero by Makenzie Lawrey
MitoAction is a big advocate in the mito community. Cristy Bacells is the director and she wrote a more comprehensive book about mitochondrial disease. One note this book is oriented more for dealing with a child with mito. It does talk about adults with mito but not in much depth.
Living Well With Mitochondrial Disease: A Handbook for Patients, Parents, and Families
