Yes, the Crawley made me do a double-take
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Thread starter Valentijn
- Start date
Gingergrrl
Senior Member
- Messages
- 16,171
However, with your knowledge of SNP's, if there is a way to solve this and ultimately get the proper diagnosis and treatment, I know that you will find it (and you will be a trailblazer for others who may have this rare condition and not know it). Am sorry you have to though.
These are scoring criteria used for diagnosis. "Nijmegen" would be the clinic I should be going to for diagnosis:
For the clinical criteria, I think I'd score 6 points and a "probable" diagnosis, without even having any scans or lab tests run yet. 1 point for exercise intolerance, 1 for muscle weakness, 2 for multiple organ involvement, and 2 for abysmal CPET results. Probably 2 for the lactate as well, though thus far might only count as 2 of the 3 elevated readings required: 1 last night which was a bit high, and then my multiple weird peaks 15-75 minutes after 4 minutes of exercise. If the multiple peaks count as multiple high readings, that would put me at 8 points and in the "definite" diagnosis category
I'm not sure if my genetic mutation would classified as "probable" or "definite" on that table. It's been found in several patients with mitochondrial disease, and it's on a gene which causes MELAS. But it's also a distinctive part of several small maternal haplogroups.
For the clinical criteria, I think I'd score 6 points and a "probable" diagnosis, without even having any scans or lab tests run yet. 1 point for exercise intolerance, 1 for muscle weakness, 2 for multiple organ involvement, and 2 for abysmal CPET results. Probably 2 for the lactate as well, though thus far might only count as 2 of the 3 elevated readings required: 1 last night which was a bit high, and then my multiple weird peaks 15-75 minutes after 4 minutes of exercise. If the multiple peaks count as multiple high readings, that would put me at 8 points and in the "definite" diagnosis category
I'm not sure if my genetic mutation would classified as "probable" or "definite" on that table. It's been found in several patients with mitochondrial disease, and it's on a gene which causes MELAS. But it's also a distinctive part of several small maternal haplogroups.
I was looking at leighs or leighs like syndrome adult onset but I think its extremely serious and comes with mri signs that would be spotted its related to pyruvate dehydrogenase http://www.medicinenet.com/leighs_syndrome_leighs_disease/article.htm
Last edited:
A couple updates. First, I've had at least 3 elevated blood lactate readings with my home meter, on different occasions. Bed time seems to be when it's most likely to peak (since I don't exercise). I haven't seen a clear trigger or pattern - maybe a specific type of headache is an indication.
I went back to the GP regarding meds and problems with the referral for MELAS investigation. My fiance was able to call the hospital and sort out the referral, so the appointment was today with an endocrinologist. The GP also officially gave up on handling the treatment of my diabetes, so referred me to the same endocrinologist for that. So today's appointment combined my diabetes issues as well as a MELAS referral.
The appointment with the endocrinologist went very well. In fact, the best appointment I've ever had in the Netherlands I think! We started with the basic diabetes stuff, so she got my history on that. She wasn't assuming it's Type 2, though my auto-antibodies came back negative. It also sounds like my HbA1c was 83 when GAD was tested, and had been 88 a week earlier at diagnosis.
I explained my very bad reaction to Metformin, and that Gliclazide wasn't doing anything at 120mg. I'd tested that by not refilling my prescription when it ran out 5 days ago, and blood sugar stayed pretty much the same. At most it was having a very mild impact at the wrong time of day.
She explained that there are other pills I can try, and other injections, or insulin as a last resort. She's starting me on an injected incretin mimetic, which should both stimulate insulin production (if possible) and inhibit glucagon release, which should inhibit hunger as well. I'm not sure exactly which drug I'm going to be taking, but it's either Exenatide or Liraglutide, since she had to fill out a special form for the pharmacy to bill my insurance. Both drugs show pretty substantial weight loss combined with a reasonable diet, of about 10% of body weight per year. I'll start taking that tomorrow, after we get it from the pharmacy.
She referred me to get my eyes checked out. I'm still having some trouble focusing, which makes me nauseous after too much reading, etc. So that happens on Monday, thought that might just involve checking for retinopathy.
She's also arranging the referral to the MELAS clinic. She seemed vaguely familiar with it, after I explained that it can both cause ME symptoms and Diabetes. She asked about the stroke-like symptoms, so I mentioned my 3 week hemiplegia episode from when I was 27, and possibly my first migraine at age 11 with lots of vomiting. She thought they might be able to do the testing locally, but I explained that it would involve a muscle biopsy which would be shipped to the clinic anyhow, so she agreed a referral was the way to go.
She ordered a lot of blood tests, and a urine test. It includes the regular diabetic check-up items, such as lipids, liver function, kidney function, etc, as well as some stuff regarding muscles and vitamins. She'll call me in a week to discuss test results.
I went back to the GP regarding meds and problems with the referral for MELAS investigation. My fiance was able to call the hospital and sort out the referral, so the appointment was today with an endocrinologist. The GP also officially gave up on handling the treatment of my diabetes, so referred me to the same endocrinologist for that. So today's appointment combined my diabetes issues as well as a MELAS referral.
The appointment with the endocrinologist went very well. In fact, the best appointment I've ever had in the Netherlands I think! We started with the basic diabetes stuff, so she got my history on that. She wasn't assuming it's Type 2, though my auto-antibodies came back negative. It also sounds like my HbA1c was 83 when GAD was tested, and had been 88 a week earlier at diagnosis.
I explained my very bad reaction to Metformin, and that Gliclazide wasn't doing anything at 120mg. I'd tested that by not refilling my prescription when it ran out 5 days ago, and blood sugar stayed pretty much the same. At most it was having a very mild impact at the wrong time of day.
She explained that there are other pills I can try, and other injections, or insulin as a last resort. She's starting me on an injected incretin mimetic, which should both stimulate insulin production (if possible) and inhibit glucagon release, which should inhibit hunger as well. I'm not sure exactly which drug I'm going to be taking, but it's either Exenatide or Liraglutide, since she had to fill out a special form for the pharmacy to bill my insurance. Both drugs show pretty substantial weight loss combined with a reasonable diet, of about 10% of body weight per year. I'll start taking that tomorrow, after we get it from the pharmacy.
She referred me to get my eyes checked out. I'm still having some trouble focusing, which makes me nauseous after too much reading, etc. So that happens on Monday, thought that might just involve checking for retinopathy.
She's also arranging the referral to the MELAS clinic. She seemed vaguely familiar with it, after I explained that it can both cause ME symptoms and Diabetes. She asked about the stroke-like symptoms, so I mentioned my 3 week hemiplegia episode from when I was 27, and possibly my first migraine at age 11 with lots of vomiting. She thought they might be able to do the testing locally, but I explained that it would involve a muscle biopsy which would be shipped to the clinic anyhow, so she agreed a referral was the way to go.
She ordered a lot of blood tests, and a urine test. It includes the regular diabetic check-up items, such as lipids, liver function, kidney function, etc, as well as some stuff regarding muscles and vitamins. She'll call me in a week to discuss test results.
Last edited:
Never Give Up
Collecting improvements, until there's a cure.
- Messages
- 971
Congratulations! That sounds like a wonderful visit!
Hope the injected incretin mimetic gets the job done, and how nice that if it doesn't, there are other things to try. The weight loss side benefit is pretty cool, too.
I hope the MELAS clinic sees you quickly, does a complete work up and analysis, and has good treatment options for you.
Jenny TipsforME
Senior Member
- Messages
- 1,184
- Location
- Bristol
Good to hear you got to someone who is more thorough
Wow - I just found this thread and can't believe how badly your GP was treating you. I'm so, so glad you're under an endocrinologist now. Your blood sugars at 13++ would make anyone feel really lousy. How long do you have to wait to see the MELAS specialist? I hope it's not long.
We have the same problem with GPs in the UK - they think that patients with diabetes (T2) don't need to test at all because some stupid study showed that patients who tested didn't have any improvement in their Hba1c. But the stupid study didn't do any kind of intervention (like educating the patients what to do about their readings) so is completely invalid - yet it forms the UK's "evidence base" for diabetes care. Worse still a lot of GPs don't seem to understand that patients on insulin need to test and will tell you that one test a day is enough (it's illegal to drive here if you don't test your BS every time you drive)!!
I don't know if you can get coverage on the Dutch health insurance but I just got one of these and it's the best thing ever. I have to pay myself but it's worth it to see constant blood sugar readings. https://www.myfreestyle.nl/
Is it possible to know what the MELAS mutation snp is? Did you get it from 23 and me? Reading through the symptoms - I started to think I could have that too!
I'm so, so glad you're under an endocrinologist now. Your blood sugars at 13++ would make anyone feel really lousy. How long do you have to wait to see the MELAS specialist? I hope it's not long.We have the same problem with GPs in the UK - they think that patients with diabetes (T2) don't need to test at all because some stupid study showed that patients who tested didn't have any improvement in their Hba1c. But the stupid study didn't do any kind of intervention (like educating the patients what to do about their readings) so is completely invalid - yet it forms the UK's "evidence base" for diabetes care. Worse still a lot of GPs don't seem to understand that patients on insulin need to test and will tell you that one test a day is enough (it's illegal to drive here if you don't test your BS every time you drive)!!
I don't know if you can get coverage on the Dutch health insurance but I just got one of these and it's the best thing ever. I have to pay myself but it's worth it to see constant blood sugar readings. https://www.myfreestyle.nl/
Is it possible to know what the MELAS mutation snp is? Did you get it from 23 and me? Reading through the symptoms - I started to think I could have that too!
Gingergrrl
Senior Member
- Messages
- 16,171
@Valentijn Am just catching up on threads and am so glad you got to see such a good Endo and will be referred to the MELAS Clinic! That is great news and good advocacy on your part!
No appointment yet. The GP sends the referral, then the MELAS clinic schedules it and sends me a letter.
Mine is probably MT-ND1 A3796G. 23andMe hides it under one of their "i" number labels as i3002114, even though it already has an "rs" number: rs28357970. The most common mutation in causing mitochondrial disease isn't tested by 23andMe.
But due to heteroplasmy, and mutations only being present in some tissues, a saliva or blood test is likely to miss it. The diagnostic procedure would be to take a muscle biopsy and use that to look for both ragged red fibers and the presence of the genetic mutation.
Yes, it's one that really could cause all of the ME symptoms. But I'm not sure about it being "the" cause, versus a cause for a subset, due to the other symptoms like the stroke-like episodes (various seizures, hemiplegia, certain types of migraine) being somewhat uncommon among ME patients. But it's also possible that ME is a mildly different manifestation of MELAS.
Edit: That's excellent news. Such a rarity!
Last edited:
The drug I ended up on is Liraglutide, brand name Victoza. It comes in a nice pen identical to the one my fiance uses to inject his insulin, so he was able to show me how to use it and lend me some needles until we can pick mine up on Monday. So it's a nice tiny needle for subcutaneous injecting into fat. I don't even feel it, which is a nice change from the monsters I use to inject B12 into my thigh muscles
No side effects yet, and my blood sugar is dropping nicely already, even though I'm still on the lowest dose, and after just 2 days on it I had my lowest ever fasting value this morning at 8.7 (155). Basically Victoza decreases glucagon and/or increases insulin secretion, but only when blood glucose levels are higher than they should be. It's the manufactured form of an enzyme naturally occurring in the body, but altered to keep it from breaking down too quickly. So it stays effective for about 24 hours, and only needs to be injected once per day
I'll double the dose from 0.6mg to 1.2mg after a week, and the endocrinologist already included a refill for 5 more pens. Another great effect of Victoza is that it results in significant weight loss. At 3.0mg it resulted in 9.2% loss of body weight at a consistent rate in obese non-diabetics and pre-diabetics. So far it's already been half a pound per day for me.
No side effects yet, and my blood sugar is dropping nicely already, even though I'm still on the lowest dose, and after just 2 days on it I had my lowest ever fasting value this morning at 8.7 (155). Basically Victoza decreases glucagon and/or increases insulin secretion, but only when blood glucose levels are higher than they should be. It's the manufactured form of an enzyme naturally occurring in the body, but altered to keep it from breaking down too quickly. So it stays effective for about 24 hours, and only needs to be injected once per day
I'll double the dose from 0.6mg to 1.2mg after a week, and the endocrinologist already included a refill for 5 more pens. Another great effect of Victoza is that it results in significant weight loss. At 3.0mg it resulted in 9.2% loss of body weight at a consistent rate in obese non-diabetics and pre-diabetics. So far it's already been half a pound per day for me.
Last edited:
It's a bit hard to tell, since my morning BM's are happening a little later and throwing off calculationsVictoza sounds really great
But it still seems to be going down, albeit not so fast.But the biggest improvement has been with my fasting blood sugar. After the first dose, it was down to 9.3, and it's been under 9 for the past 3 days. I'm moving my injection to later in the day, since more of the drug is still active after dinner that way. But just 2 more days until I start the higher dose now.
My endocrinologist called with my lab results, though of course I didn't get the call, since the cell phone reception is horrible at our new house. But she left a nice message. First of all, I feel comfortable calling her "my" endocrinologist because she wants me to come back in 2-3 months and get the next batch of blood work done shortly before that visit. So she's handling my routine care, for now.
Lab work was all normal, and my HbA1c is down to 54 (7.1%), which is barely even in the "diabetic" range 9 weeks ago it was 88 (10.3%), and 8 weeks ago it was 83 (9.7%), so already being down to 54 is awesome. I can tell she's a great doctor because she gave me all the credit for getting it down that fast I've been eating 20-25 carbs at each meal, and that's what has had the most impact thus far.
She wants me to keep taking the new drug, Victoza (and call if I have problems), since it should help with weight loss even after blood sugar is under control. It's not getting my daytime values down yet (5-7 before meals), but it's definitely getting my night and morning values down, which were the ones causing me problems. So instead of being 10-11 at fasting, I'm at 8-9 consistently over the past week. I've also only been on the lowest dose of Victoza so far, so the larger dose will probably be more effective. I decided to increase it today, instead of waiting another day, since I haven't been having side effects and it makes my record-keeping a bit easier.
She also mentioned that she's sent off the referral to the MELAS clinic, so hopefully I'll hear from them soon
Lab work was all normal, and my HbA1c is down to 54 (7.1%), which is barely even in the "diabetic" range
9 weeks ago it was 88 (10.3%), and 8 weeks ago it was 83 (9.7%), so already being down to 54 is awesome. I can tell she's a great doctor because she gave me all the credit for getting it down that fast I've been eating 20-25 carbs at each meal, and that's what has had the most impact thus far.She wants me to keep taking the new drug, Victoza (and call if I have problems), since it should help with weight loss even after blood sugar is under control. It's not getting my daytime values down yet (5-7 before meals), but it's definitely getting my night and morning values down, which were the ones causing me problems. So instead of being 10-11 at fasting, I'm at 8-9 consistently over the past week. I've also only been on the lowest dose of Victoza so far, so the larger dose will probably be more effective. I decided to increase it today, instead of waiting another day, since I haven't been having side effects and it makes my record-keeping a bit easier.
She also mentioned that she's sent off the referral to the MELAS clinic, so hopefully I'll hear from them soon
I got my appointment! It doesn't say anything about MELAS or the mitochondrial disease clinic, but it's with an internist at the hospital who's also part of the mitochondrial disease clinical team. It says to expect the first visit to take 1-2 hours, so I'm hoping that might include some immediate testing (muscle biopsy, CSF lactate, etc). It takes two hours each way to drive there, so it'd be nice to get as much done at once as possible. It's on May 15th, so just 7 weeks out now.
I hit a bit of a snag with the Victoza injections for diabetes. At the higher 1.2mg dose I had pretty bad constipation all week. Basically my poo has been in the farm of small dense rocks, every 2-3 days I started taking magnesium oxide 2 nights ago, and after 750mg of it yesterday, combined with a lot of coffee, I finally had a normal BM this morning. Usually I avoid magnesium oxide because it moves things along a little too quickly.
So I'll stay on the same dose of the Victoza for now, and keep on taking 500mg magnesium oxide daily (plus the absorbable magnesium I take for muscle twitching) and see how things go. But that's been pretty miserable ... weight going up due to nothing coming out, and way too much exertion involved in getting out the rock-poo, and constant discomfort. Basically the drug can cause constipation by delaying gastric emptying, so I'm probably not absorbing my supplements very well either. Though usually it's the 60+ crowd who get that symptom from it ... so it might be down to activity levels more than anything.
I hit a bit of a snag with the Victoza injections for diabetes. At the higher 1.2mg dose I had pretty bad constipation all week. Basically my poo has been in the farm of small dense rocks, every 2-3 days
I started taking magnesium oxide 2 nights ago, and after 750mg of it yesterday, combined with a lot of coffee, I finally had a normal BM this morning. Usually I avoid magnesium oxide because it moves things along a little too quickly.So I'll stay on the same dose of the Victoza for now, and keep on taking 500mg magnesium oxide daily (plus the absorbable magnesium I take for muscle twitching) and see how things go. But that's been pretty miserable ... weight going up due to nothing coming out, and way too much exertion involved in getting out the rock-poo, and constant discomfort. Basically the drug can cause constipation by delaying gastric emptying, so I'm probably not absorbing my supplements very well either. Though usually it's the 60+ crowd who get that symptom from it ... so it might be down to activity levels more than anything.
arewenearlythereyet
Senior Member
- Messages
- 1,478
Good luck with your appointment, sorry to hear about your nuggets ..... Not sure if you've tried prunes? Perhaps sorbitol and fibre in another form?I got my appointment! It doesn't say anything about MELAS or the mitochondrial disease clinic, but it's with an internist at the hospital who's also part of the mitochondrial disease clinical team. It says to expect the first visit to take 1-2 hours, so I'm hoping that might include some immediate testing (muscle biopsy, CSF lactate, etc). It takes two hours each way to drive there, so it'd be nice to get as much done at once as possible. It's on May 15th, so just 7 weeks out now.
I hit a bit of a snag with the Victoza injections for diabetes. At the higher 1.2mg dose I had pretty bad constipation all week. Basically my poo has been in the farm of small dense rocks, every 2-3 days
So I'll stay on the same dose of the Victoza for now, and keep on taking 500mg magnesium oxide daily (plus the absorbable magnesium I take for muscle twitching) and see how things go. But that's been pretty miserable ... weight going up due to nothing coming out, and way too much exertion involved in getting out the rock-poo, and constant discomfort. Basically the drug can cause constipation by delaying gastric emptying, so I'm probably not absorbing my supplements very well either. Though usually it's the 60+ crowd who get that symptom from it ... so it might be down to activity levels more than anything.
arewenearlythereyet
Senior Member
- Messages
- 1,478
I'll stick with coffee, thankyouverymuch!
It's got a new health claim and everything
https://www.naturalproductsinsider....lth-Claim-For-Prunes.aspx?topic=healthy-foods
http://www.nutraingredients.com/Reg...!-Prunes-win-official-EU-health-claim-passage
Can't shake school dinners or old granny image though.
Creachur
Guest
- Messages
- 51
Hello everyone. I too am in the process of being referred to a mitochondrial diseases unit to be tested for MELAS although I am starting to think I may have a fatty acid oxidation disorder. It's hard to know which one causes the other as they both seem interlinked despite having different causes.
I will watch this thread with interest although I frequently get too ill for weeks and months to use the PC, so I hope that doesn't happen.
I will watch this thread with interest although I frequently get too ill for weeks and months to use the PC, so I hope that doesn't happen.