r/mito

Hello all,
My wife and I are looking to have children , she is 33 and I am 33.

My wife underwent some pain growing up, being premature for starters and requiring open heart surgery at 21. However since then she is healthy, only issue was hearing loss. Her sister, perfectly fine had a child before us and noticed her child was having lactic acid episode which prompted her to go to a doctor. This doctor came back saying her son had 80% melas Hetroplasmy which prompted the whole family to get tested. Her sister came back 75% my wife came back 54% and their mother never tested but is still alive and seems to be well.

Since then her sister’s son is doing okay, aside from short stature he doesn’t seem to have any severe issues and her sister is having another child - a girl.

This leads me to wonder, with my wife I worry if I should attempt natural pregnancy, or possible ivf with testing to find the least infected embryo if this even helps. What is also interesting is we made contact with a NYC Colombia based doctor who specializes in melas and I am hopeful to hear him out but my wife seems to think there is no hope and we either do those two options above or egg donor which isn’t on my top list to do.

Has anyone ever experienced this? Am I dumb to have hope that I will have a healthy child? Does her Hetroplasmy being less than her sister help us? Bit stuck what to do here but again would love feedback if anyone else experienced this.

Has anyone ever had this muscle biopsied? I have the procedure scheduled for Friday and was just wondering what to expect. Any tips are also appreciated.

Hey, so I’m 9 years in a crappy journey trying to figure out my heart and lungs frequently stop working. Have seen many doctors. Inprimarily have cardiac symptoms and have my whole life, but I don’t fit any cardiac diagnosis perfectly… the main issue is the fact that whatever is causing my symptoms happens in a relapsing-remitting pattern with a stepwise decline in between each flare.

So I put a bunch of my test results /objective findings and symptom and disease progression into a medical app and mitochondrial disease was the first thing that came up.

I’m wondering how many people figured it out themselves and navigated the process themselves to get diagnosed, vs those who had a doctor who suspected it and ordered all the tests etc.

Just wondering if anyone has both of these devils. And if so what type?

I have hEDS and MELAS, both dx clinically by a neurologist and geneticist

I have never posted on here, mostly read other posts. I have been considered undiagnosable for about 2 yrs. I have severe chronic neuromuscular respiratory failure and am on a ventilator via niv 18+ hrs a day. I also have severe dysphagia, and weakness in my arms and legs worse in my left side. My drs highly suspect mito based on symptoms, bloodwork and genetic testing that came back as vus. A little over 2 weeks ago I had a muscle and nerve biopsy. My nmd pulmonalogist insisted on the biopsies to try and get a diagnosis for treatment or to give me a time frame.

I went today for my follow up and the doctor said my results were not back yet. This appointment was to go over the first batch of biopsy results. I was told I would get results at about 2 weeks and 4 weeks. The doctor said the lab called this morning to tell them that they didn't have any information for them. Is this pretty normal to not get the results back at a little over 2 weeks? All the neuro surgeon said was that they would contact me when they got results from the lab. I am a bit nervous now that it is taking longer to get the results.

Has this been normal for other people who got a muscle/nerve biopsy done? Did it take longer to get the results than the doctor anticipated? If it did take longer for you, was it because there was a problem with the specimens or because they needed a 2nd opinion or some other reason?

I've been diagnosed with heds pots and more. Have suffered my entire life with health issues.

Last year I got a severe upper respiratory infection and took antibiotics and probiotics. For three days I suffered in agonizing pain.

Lost 100 pounds in under two months, diagnosed with gastroparesis. Lost the ability to walk from my head down to my legs over a few months.

I ended up last year in the hospital and almost died with sepsis. They took a muscle biopsy which showed lactic acidosis.

I started being able to eat again and gained some weight and re learned how to walk.

I've not been the same since. Some days I can't really walk well and doctors still don't know what happened.

My neurologist just sent to check for mitochondrial disorders and to say I'm anxious is an understatement. Nobody I've talked to has ever been through what I dealt with.

I'm wondering if anyone went through something like this? (My whole family is sick all the time with random things)

I'm waiting on results but this is pretty much the last thing they can test me for.