Ask the Mito Doc May 2023
Special Session for the Newly Diagnosed
Clinicians:
Rebecca Ganetsky, MD The Children’s Hospital of Philadelphia
Colleen Clarke Muraresku, MS, LCGC The Children’s Hospital of Philadelphia
Sumit Parikh, MD Cleveland Clinic
Patricia Arnold,MSW,LCSW, The University of Texas Health Science Center Houston
Q: Suggestions for sick plan/emergency care?
A: Sumit Parikh, MD: These can be developed by your genetics or mitochondrial doctor. An example is available on the UMDF website.
Q: We are trying to get reasonable priced mito cocktail and ideally get insurance to pay. Our daughter cannot swallow pills. Has anyone had luck getting coverage for this? Where and how do they do this if it was possible?
A: Rebecca Ganetzky, MD: This is a great and challenging issue for many patients. Some compounding pharmacies can work directly with your insurances to try to get coverage, and many of my patients have had success with working with compounding pharmacies that help with this. Other times, what insurance may not cover is compounding, rather than the “cocktail” itself, and you may be able to find off-the-shelf liquid versions. Finally, you can also talk to your doctor about pills that can be crushed.
Q: I was diagnosed via muscle biopsy that showed low level metabolic mitochondrial dysfunction. The biopsy also came back positive for Myoadenylate deaminase deficiency. Is Myoadenylate deaminase deficiency classified as a mitochondrial disease?
A: Sumit Parikh, MD: Myoadenylate deaminase deficiency is not a mitochondrial disease. This condition may not lead to symptoms at all. If you have not had updated genetic testing (completed in the past 5 years) – please consider seeing a clinical geneticist to have this testing completed. We see low level mitochondrial dysfunction in many, many other conditions – many of which are not a genetic progressive mitochondrial disease.
Q: Are you aware of any correlation between mitochondrial disorders and autism or other neurodevelopmental disorders?
A: Rebecca Ganetzky MD: Many people with mitochondrial diseases may have autism and/or other neurodevelopmental disorders, usually along with other signs and symptoms. However, it is important to remember that most people with autism or other developmental disease, especially if it is isolated without involvement of other organs, or seizures, etc. do not have mitochondrial disease.
Q: Are you aware of any correlation or connection between mitochondrial disorders and cancer? Specifically thyroid cancer?
A: Sumit Parikh, MD: There does not seem to be a clear correlation between genetic mitochondrial disease and an increased risk of cancer.
Q: Given that individuals with mitochondrial disorders can have challenges around anesthesia, are there any contraindications for the use of Spravado (esketamine nose spray) treatment for depression?
A: Sumit Parikh, MD: The challenges around anesthesia are relatively mild when modern anesthetic techniques are used. Mitochondrial anesthesia guidelines are available for your medical team at the link bit.ly/mitocare. We do not have any data yet on the specific therapy you mention, and we would recommend some close monitoring after receiving a new treatment such as this.
Q: I’ve read that some patients affected by mitochondrial disease may become hypoglycemic in a couple of hours after eating. My question is whether becoming sick due to delayed meal (e.g., when interval between meals is 3-5 hours) could be potentially associated with mitochondrial disease, in case hypoglycemia is not present (e.g., glucose level is above 85 mg/dl). The symptoms include severe headache, nausea, tension, muscle tension, disorientation, and general discomfort. Symptoms are only alleviated in a while after eating (this should be some nutritional food, not just carbohydrates e.g., sweets), sometimes it takes hours. There is a 100% correlation between delayed meal and developing such symptoms. These symptoms do not occur otherwise. In addition, high energy consumption may worsen the symptoms.
A: Rebecca Ganetsky, MD Some patients with mitochondrial disease have increased symptoms with fasting, but it is unusual for symptoms to set in with only 3-5 hours between meals. More commonly those are symptoms 8-12 meals into a fast.
Q: As a patient myself with a true, undiagnosed complex condition, I have so much anxiety I face daily. As each day passes, another specialist seen and I don’t have answers. I’ve seen half a dozen or more specialists, with zero treatment/answers. So, my question is, is there a mitochondrial specialist available to ask questions to directly? What about being seen by one? How about funding? My insurance only allows me to be seen by a specialist if my physician refers me them self. Pain, weakness, paralysis, amongst many other symptoms prevent me from doing much alone- if at all. I just want to be diagnosed already; I have had so much testing done (to rule out other diagnoses/conditions). I’m willing to travel but just need to not be put through the ringer or pushed off to another specialist and another and another from there.
A: Rebecca Ganetzky: Having an undiagnosed disease can be very challenging. Many mitochondrial specialists are neurologists or geneticists by training, and they may be able to see you. I often tell patients that I will do my best to get them a diagnosis, but because I have spent so much time learning mitochondrial medicine, my breadth of knowledge is not as good, so I can only answer the question about mitochondrial disease. For some patients, it can be most efficient to start with a general neurologist or geneticist to reduce dead-ends.
Sumit Parikh, MD: I am so sorry to hear this. Please make sure you have seen a clinical geneticist to get testing completed. If not done in the past 5 years – there is new or updated testing.
Q: My children are starting to become more “aware” of their disease and how it affects them. How do you handle more in-depth questions like, “Mom, can I have kids some day?” “Will I pass my disease onto my kids someday or should I just adopt?” “How did I get Leigh’s disease?”
A: Sumit Parikh, MD: This can be tough question for a parent to answer depending on the age and the kind of question. They may at their development level, be quite okay with a very straightforward and simple answer that does not necessarily need to go into a lot of detail unless they ask for somebody who’s a bit older and a bit more developed. Usually, we’re having to try and help if we have a relationship with the child and the family for a while; to try and sit down and have that discussion with them. If they want to talk to us, if they want something even more in-depth, using the assistance of a behavioral psychologist or therapy and then for the older teen or young adult especially if they’re talking about pregnancy, pregnancy risk and children. A genetic counselor can be tremendously helpful in helping what to consider. As you know, pre pregnancy or preconception, counseling.
Q: Newly diagnosed. I have suffered from and been treated for high blood pressure for years, without any clear indicative cause. After further investigation, my cardiologist has diagnosed me with microvascular disease. Is there a connection?
A: Sumit Parikh, MD: There is no direct connection between microvascular disease related to aging and genetic mitochondrial diseases.
Q: Is there ever a false negative result for Mito?
A: Sumit Parikh, MD: If there was genetic testing completed by a reliable testing company and interpreted by a knowledgeable genetics doctor – then the answer is no. If the testing was completed in muscle or skin biopsy – then yes – mitochondrial dysfunction can be seen in non-mitochondrial diseases. Updated genetic testing should be completed.
Q: I have been told Mitochondrial IV. I have no idea about the difference between this and others.
A: Rebecca Ganetzky, MD: There are many different genetic mitochondrial diseases — in fact hundreds — of which there are many different types of mitochondrial complex IV deficiency. The best way to be grouped with other patients the most like you are through genetic testing.
Q: Is mitochondrial disease associated with hypoxia?
A: Sumit Parikh, MD: Some people with mitochondrial disease can have weakening of their muscles – including the muscles that inflate their lungs or move the diaphragm. If that is the case – this can lead to low oxygen levels or hypoxia. We have our patients with mitochondrial disease see a pulmonologist every so often for routine monitoring due to this concern.
Q: How can you find a physician with this expertise near you?
A: Colleen Clark Muraresku, MS, LCGC: The UMDF has a great resource to help to find experts in your area. Even if you do not have an expert near you, finding someone for your care team that is willing to work with you and think outside the box is important.
Q: So not hypoxia due to a cardiovascular problem, instead of a lung problem?
A: Sumit Parikh, MD: In mitochondrial disease it could be cardiovascular, or heart related as well.
Q: Can a geneticist test me for mito disease in addition to metabolic myopathy at the same time or should I go to two separate geneticists? I’m not clear on the difference though because I’m new to all of this.
A: Rebecca Ganetzky, MD: Most geneticists can test for mitochondrial disease as well as metabolic myopathy.
Q: The Patient care standards link provided in the chat mentioned stroke like visible abnormalities that might show up in MRI. Can you expand a bit on that?
A: Rebecca Ganetzky, MD: Some patients with mitochondrial disease may have stroke-like episodes, which are changes on brain MRI that happen acutely and can be differentiated from other strokes because they aren’t in the same regions that are affected by more traditional strokes.
Q: Is it possible for adult onset mito disease to cause muscle problems (difficulty walking upstairs) and widespread inflammation for 5 years, then have a full year of complete remission, followed by chronic fatigue, lightheadedness, exertion intolerance, orthostatic hypertension, and flu like feelings (now ongoing for 6 years)? Is that a common mito profile?
A: Rebecca Ganetzky,MD: We really commonly see that patients with mitochondrial diseases have episodes that are more severe, and then they have periods that are mild for a while. It’s not everyone. Some people with mitochondrial disease have kind of progressive, consistent disease, but episodic disease is common, and usually what I say to people is, you may not fully understand what it is that’s happening. But something is causing your body to need more energy from a while, and that’s something your mitochondria can keep up with. So, you’re feeling a lot of symptoms and then your body’s demand for energy comes back down, and then you can have periods where you feel better.
Q: Does mito disease cause orthostatic hypertension?
A: Rebecca Ganetzky, MD: Some patients with mitochondrial disease may have orthostatic hypotension (low blood pressure). Hypertension is less common, although it can be seen as part of more dysregulation of heart rate and blood pressure.
Q: What do you do to keep your spirits up while you’re taking care of your patients? Any ideas for us parents out here struggling?
A: Rebecca Ganetsky, MD.: I think for me, there’s 2 things. One of them really gets back to that question of hope. I really encourage my families, and sometimes I’ll do this exercise with families and clinics to come up with a whole list of hopes, things that we think will never happen right like a magic wand. We’ll come and take away mitochondrial disease.
You know that tomorrow will be a day that you’ll get through, that you’ll get 5 min outside or that you’ll get a moment where you just appreciate being a family for 5 min. You know, and it’s to me, having those things to hope for and look forward to every day are just incredibly valuable. The other thing that I think a lot of my family’s need to hear. And it’s hard. And it’s hard for me as a Mito caregiver, too, learning to be good enough and not be perfect. Every day, and saying, you know, okay, like, today, the Mito cocktail was scheduled at 3:00 and it got in at like 4:30.
Did it hurt anyone? No. Is that good enough care? Yes, and I think a lot of my family’s really carry the burden of that. If I loved my kid, I would give them the cocktail exactly when it was scheduled. It’s important to accept where we are and what’s good enough.