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My daughter had her initial appointment with the private genetics clinic. The geneticist is ordering testing, so we may have an answer to what is causing her unusual muscle hypertrophy by early next year. Genes being tested are CLCN1 (myotonia congenita), SCN1A (paramyotonia congenita), and...

No progress on the diagnostic front – still trying to get in with the private genetics clinic. But on the symptom front, my daughter has realised that some odd episodes she’s had over the past year or two are consistent with myotonia. The other day, she could not speak properly for half an...

Still no progess for my daughter. We waited months to see a neurologist. He didn’t prepare for the appointment, and didn’t examine her muscles or check for myotonia, even though her referral was for unexplained muscle hypertrophy and suspected myotonia congenita. There were other problems too...

I think the presenter might have been referring to Dr Rowe's work with his collaborators in the Netherlands on measuring low blood flow to the brain in OI. I know it can't be measured directly, but isn't low oxygen supply a given when blood supply is reduced? I have read that the brain can...

In a somewhat dispiriting update, it seems genetic testing for my daughter would take about a year in the Australian public system. I'm sure they do it much more quickly for sick youngsters and to check for life-threatening and life-shortening conditions, but still, I can't imagine waiting a...

Good news - my question is moot, because my daughter got a new prescription and is back on HCQ as of this morning. It's taken 25 years since her first autoimmune diagnosis, but she is finally on a regimen that she understands and has a good chance of being effective, mostly because of her own...

@Jonathan Edwards, fair enough. Could you please explain what you mean by: "General arguments about 'autoimmunity' should not be coming in to clinical decisions in this situation."

Okay, I have a question, not strictly related to my daughter's main illness (but who knows). She was given a trial of hydroxychloroquine (HCQ) by the rheumatologist on the basis that her hypertensive-type OCHOS has an autoimmune basis and that HCQ is reasonably low risk among the DMARDs...

For anyone else who did a double take, "drug consumption" (consumo de fármacos) might be better translated as "medication use".

If someone uses the laboratory where they work to experiment on themselves, I wonder who pays for it. Did she work out of hours and buy her own materials? In the early days of modern science, laboratories tended to be owned by gentleman scientists, but that would rarely be the case today. So in...

And having said all that, the genetic testing may not give a clear answer. People sometimes find out that they have a variant of unknown significance on the myotonia congenita gene, and then have to wait until more research data comes in and that variant is "upgraded" to being diagnostic, if...

Yes, that is a good idea. I saw the FSHD study and clicked through to the website. What a valuable service to patients and research. There seems to be a reasonable amount of myotonia congenita research ticking over, including existing drugs being tested for possible repurposing to use in...

@wigglethemouse , it is complicated, isn't it. I'm sorry to hear that your family member never got their data or a refund. I think the neurologist will order panels for myotonia congenita, other non-dystrophic myotonias, and perhaps myotonic dystrophy as well. And they will do an EMG, although...

@Kitty , thank you for the thoughtful reply. I joined a couple of support groups on Facebook (my daughter doesn't have a Facebook account because she says it is too annoying) and I posted a couple of questions and comments. Unfortunately, one of the key people on one of the groups made a...

My daughter is waiting to see a neurologist to find out whether she has a particular genetic condition called myotonia congenita. It seems likely that she has it, or something in the same area (non-dystrophic myotonias), but the proper medically recognised genetic testing that is available has...

My daughter has one of the recently described kinds: hypertensive-type OCHOS. It's a bit different to classical OI, in which not enough blood gets to the brain. In hypertensive-type OCHOS, the blood gets to the head but can't get into the brain due to abnormal vasoconstriction. But there also...

It was mentioned in this thread about compiling a list of medications that could increase cerebral blood flow for future study. My daughter tried nimodipine, but had to stop taking it due to an unpleasant side effect. It did seem to be helping but, as she had to stop it after a short time, it...

We're not allowed to read the NICE website from outside the UK. Do the guidelines only recommend blood tests, or did the study only look at blood tests? I would have thought sleep studies would have been fairly common too, unless this was for tiredness and fatigue that isn't related to poor sleep.

This 2024 study looked at three methods of CO rebreathing and found discrepancies: Duplicate measures of hemoglobin mass within an hour: feasibility, reliability, and comparison of three devices in supine position https://pubmed.ncbi.nlm.nih.gov/38265850/ (I believe the "semi-automated...

Different angle of dicussion: We know that blood volume decreases when activity levels decrease. How could researchers distinguish between hypovolemia related to loss of ability to exercise and hypovolemia caused by (or associated with) the disease processes of POTS or ME/CFS? Would using...