What are the options for diagnosing mitochondrial disease?

Posted by atware @atware, Feb 7 12:47pm

Hello everyone,
For the sake of brevity I will not include a lot of details here. I have completed Whole Genome Sequencing through Nebula due to suspected metabolic and/or mitochondrial diseases in our family, It does appear that I do have some variants for mitochondrial disease. My question is what are my options for confirming whether I have the variants for and/or a mitochondrial disorder? Thank you in advance.

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Justin McClanahan, Moderator | @JustinMcClanahan | Feb 13 11:01am

Hello @atware. Sorry to hear about your lack of clarity in regards to Mitochondrial Disease. When you say you did genome sequencing through Nebula, was this done with input from any provider and did they have an opinion. As I am sure you know, Mitcochondrial diseases can effect 1 in around 5,000 people but differ in their severity and what exactly they effect for each person.

Here is some information about how Mayo Clinic Mitochondrial Disease Clinic, https://www.mayoclinic.org/departments-centers/clinical-genomics/overview/specialty-groups/mitochondrial-disease-clinic. I'd also like to invite back @leotania to see if they can share what they learned about this diagnosis.

Diagnosis of a mitochondrial disease can be difficult due to the multitude of body systems it can effect. Have you had a chance to talk with a specialist about a possible diagnosis?

atware | @atware | Feb 13 11:53am

Hi @JustinMcClanahan,
No, I strictly did WGS through Nebula on my own because of my family history and some unexplained health issues that I have. The providers in my primary care doctor's office did not have any information on mitochondrial disease or a specialist that I could contact. That is how I found my way here. I figured someone could point me in the right direction.
The effect on the different body systems definitely makes this a difficult puzzle to piece together. I've always said if I could just find the right person to just listen then the puzzle may be solved. Thanks again for your help.

aleciarickabaugh | @aleciarickabaugh | Feb 19 7:00am

In reply to @atware "Hi @JustinMcClanahan, No, I strictly did WGS through Nebula on my own because of my family..." + (show)

Go to the UMDF web page . That's the United mitochondrial disease foundation and they have all kinds of information that will help you. I have found they have more information than anywhere else. They are also very responsive and helpful if you reach out to them. They are also working with CHOP and have created a database for people who have or is suspected of having mito to register to help in studying this disease.

John, Volunteer Mentor | @johnbishop | Feb 19 8:53am

In reply to @aleciarickabaugh "Go to the UMDF web page . That's the United mitochondrial disease foundation and they have..." + (show)

Thank you for the reference to the UMDF site @aleciarickabaugh. I thought I would share the link for @atware to make it a little easier to find - https://www.umdf.org/. They also have a YouTube channel and videos that you might find helpful.
https://www.youtube.com/@theUMDF

atware | @atware | Feb 19 12:56pm

Thank you Justin, John, and Alecia. I did reach out to the UMDF. As you all have said they are very responsive. I really appreciate you pointing me in the right direction as I continue this 40 year journey. May God continue to bless and keep you all.

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