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A few members here mentioned this forum and it is terrific!
Wanted to introduce ourselves before I plunged into any discussions.
Our daughter Abby had her first muscle biopsy before she was 2. Significant hypotonia, extreme crazy allergies(despite being breast fed which was a challenge). At first they thought she had a progressive disease… but, after a couple of years of extreme diet change, and going out of our way to be very careful with her to avoid colds,fatigue she started to improve. By school she had some issues but was able to be invisible as long as she wasn’t stressed by heat, fatigue etc.
Come puberty everything started going wrong. Allergies flared, kyphosis/scoliosis. dislocating shoulders,jaw,hips, very low tone, kidney disease,GI issue, and the list goes on.
She had a second muscle biopsy at 16 that showed she had the same undefined myopathy they found when she was a toddler, plus they found a mitochondrial depletion. She is around 36 percent so above the danger threshold of under 30 percent. She cannot leave the house without flu like symptoms, fatigue and stirring up mal absorption etc.
This year we started removing foods, including high histamine. I have met a few Mast patients online and decided it was time to figure out if Mast was part of the issue.
Last week we saw her Mito specialist who admitted that Abby is “unique” and she seemed open to us hunting down whether it was a MCAS that was triggering this extreme progression we saw last year.
I wrote to Dr. Afrin and with in an hour wrote back! I could have cried, well I did! 🙂 He said absolutely that it could be MCAS and agreed with all of us that Abby isn’t clinically a good fit with a depletion but would fit the clinical picture for MCAS. We see her family Dr week after next(course he had to be on vacation during this and we have to wait for labs!)and we are certain he will be glad to write to Dr. Afrin for help with labs etc.
Lots of other stuff with Abby, but shared the “headlines”.. We also asked her Mito specialist about EDS.. she so far hasn’t show anything useful with the nDNA, though we are waiting on another large batch. Next up is Exome testing that the Geneticist said would catch “other” things beyond Mito.
We have not tried any of the over the counter meds yet- years ago when she saw an allergist they did not help much if I remember right, but the big issue is she has developed a hideous reaction to corn(and zillions of other stuff)and everything must be compounded with a pharm that gets that parts per million isn’t clean enough. Working on that this week.
Glad to have found all of you, your journeys sound so familiar!
Welcome,
So sorry to hear of your daughter’s lifelong problems, so many seem to flare up in their teens. I’m curious of her consultants findings of Mitochondrial Depletion, what causes this, did they say? because I take it, this is actually a reduction in number per square mm or whatever, yes ? Did they offer any form of treatment, or is it just a case of ‘that’s your lot!’I have Mitochondrial Dysfunction, (which manifests in overwhelming fatigue), problematic for me but a somewhat lesser problem than your daughter’s, I shouldn’t wonder. What type of physician carried out the muscle biopsy please?
Regards
Barbara
(UK)
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Head & Neck Injury (June 2002); Mild Concussion; Post Concussion Syndrome; GERD; Postural Orthostatic Tachycardia Syndrome (POTS); Peripheral Vestibular Dysfunction; Mild Radiculopathy & Small Fibre Neuropathy (right leg & foot resp.); Partially Empty Sella Oct 2002 (worse by Oct 2004); Whiplash Associated Disorder (WAD); 3mm Cerebellar Ectopia (Chiari 0); Cranio-cervical Instability (CCI) with Posterior Gliding (PG) & Cranial Settling (CS); Brain Compression; Retroflexed Odontoid; Stretched/Elongated Brainstem; Mild Scoliosis; Ehlers Danlos (EDS) type 111; Osteoarthritis; Arrhythmias (Bigeminy and Trigeminy). . . and now Mitochondrial Dysfunction, Mineral (Mg,Mn,Cu,Zn,Selenium), CoEnzymeQ10 & Vitamin (C,D,B3,B12) Deficiencies!A neurologist or geneticist can order a muscle biopsy. For the most part these days, many mitochondrial diseases are found via blood work.
Genetics have come a long way, and a knowledgeable geneticist or neurologist can run mtDNA and nDNA bloodwork to find out if you have a mutation that is linked to various forms of mito disease.Mitochondrial dysfunction is a secondary finding in many many different disease processes(learn more at UMDF and MitoAction.org). If the specialists feel strongly they know what the primary disorder is that is causing the mitochondrial findings they often won’t test further.
However, if the findings don’t seem to have a primary they will continue to test.
Depletions are a little different- they have isolated around 12 different nDNA mutations that cause depletions, but that covers less then 20 percent of patients who have depletions found on muscle biopsy. So, unless you are one of the 20 percent, have clinical findings that encourage a Dr. to test for those known mutations it is statistically more difficult to identify a depletion without it being found on muscle biopsy.
Depletions can be caused by certain medications and illnesses- but with Abby because she was symptomatic from birth, the feeling always leaned toward genetic.
Because Abby’s constellation of clinical findings were so odd ball and metabolic blood work did not indication much we opted for the second muscle biopsy- she clearly had some sort of neuro muscular issues but all the less invasive options were not showing anything.
Finding a lab that knows how to handle a biopsy to diagnosis Mito is a whole other ball of wax. I know there is one center in the UK that was listed as number 1 for years for identifying myopathies and have read that in general the UK is moving along quickly for mito diagnostics. I know the different labs with good reputations for diagnostics in the US but don’t know who would be recommended in the UK.
I know Dr. Theo recently discovered that Mast cells can cause damage to mitochondria- I am hopeful he will research this further. It in my mind is a break through finding that may explain a lot not just for us, but many who suffer Mast with extreme fatigue etc(Mitochondria as you know are how our bodies make energy).
Hoping that answered your questions? If not I will try again 🙂 Not the greatest at explaining this stuff 🙂
Hi,
Yes, thanks, that was great info, just been looking at the Mitoaction.org website.I know of Dr Theoharides’ work and I think his manner and intention are wonderful. I had stumbled on Quercetin in my own research, so to hear it coming from an expert (natural source being grapefruit pulp) confirmed I was on the right path and I indeed have 4 grapefruits in my kitchen as we speak!
Regards
Barbara
(UK)This is really interesting to me … I fit the clinical “mito” picture pretty well too. Well enough that I have had the full “official” workup including muscle biopsy (ouch!!) and all the scans/tests/bloodwork/etc that you can imagine. The official mito docs decided that I didn’t have a classical mitochondrial disease in the end, and my muscle biopsy was reported normal.
That was before I had the EDS/MCAS/Dysautonomia diagnoses, and apropriate meds/treatment for those three has helped quite a bit so I am thinking my current diagnoses are likely to be correct. It says a lot about how our cases can present though, that we’re getting worked up for mito!
Hi Dinydeek,
Thanks for joining us! Yes, you sound like one of “us”! I remember nine years ago, being considered a possible mito case, but a stress test in between hyperadrenergic episodes indicated that “there was no way I could perform that way with a mito condition”. Over time, though, our symptoms start to change and evolve, am I right? I DO believe that our mitochondria can become affected eventually, and I believe it is reversible. I worry sometimes that when doctors focus solely on the mito, they are missing the SOURCE of the original issue. I’d like to nip the source, and then take care of the “fallout” (like our mito issues). That’s part of the trials coming up — I can hardly wait to tell you more. Dinydeek, did Dr. Afrin have any new recommendations for treating the MCAS? Thanks so much! 🙂 Diana
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