Mitochondrial disease diagnosis explosion

[Guest guest]

Has anyone noticed that the mitochondrial disease diagnosis is exploding around the world!

I am forever thankful for science/tehchnology.

Initially, reading about all of thse dx's seems soo bleek.

Really, it should be cause for celebration!

It just goes to show that technology is getting better therefore a proper dignosis is able to be made.

just a few short yrs ago, these people would have went undiagnosed & UNTREATED.

Mitochondrial disease is not as rare as what "they" once thought. They were here among us all along, just unclassified or unrecognized.

Having a diagnosis is better than NOT knowing, that's for sure.

Krystena s 29 MADD

Caden 6 MADD

Carsen14 mths MADD & Cyclic Neutropenia

Warren 9 unaffected

stepdaughter 12 unaffected but diabetic

[Guest guest]

Hi Krystena,

Yes I have to agree here with you... years ago probably when we were children... people died... children became disabled... and no one knew why... they just got sick... now we have names for these disease...

But I have to say... science has not caught up to all of us yet... my daughter still is undiagnosed and has had many many tests... seen many many specialist... and still stumps the best of them...

Our neurologist feels its only time before a test becomes available to tell us what has happened with our daughter... why things have run a muck...

We wait for science to catch up with us... we wait for the reason why... we cope for now with no answers...

Netty, mom to Akasha 15yrs, deletion negative for Angelman Syndrome, negative for the UBE3A gene for Angelman Syndrome, negative for the MeCP2 gene for Rett syndrome, negative for Leigh's disease, lost the ability to walk, lost the ability to communicate, lost the ability to feed independently, fed via gastrostomy tube, microcephalic, severe generalized dystonia, rod insertion for scoliosis 2001, seizure disorder includes myclonic, tonic clonic, focal & gelastic seizures, atrophy of the brain, carnitine deficiency, high organic acid levels, esphogical fundoplications done twice 1993 & 1997, severe cognitive delay, non ambilitory since 2000...Krystena s wrote:

Has anyone noticed that the mitochondrial disease diagnosis is exploding around the world!

I am forever thankful for science/tehchnology.

Initially, reading about all of thse dx's seems soo bleek.

Really, it should be cause for celebration!

It just goes to show that technology is getting better therefore a proper dignosis is able to be made.

just a few short yrs ago, these people would have went undiagnosed & UNTREATED.

Mitochondrial disease is not as rare as what "they" once thought. They were here among us all along, just unclassified or unrecognized.

Having a diagnosis is better than NOT knowing, that's for sure.

Krystena s 29 MADD

Caden 6 MADD

Carsen14 mths MADD & Cyclic Neutropenia

Warren 9 unaffected

stepdaughter 12 unaffected but diabetic

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