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Re: good doctor

Giselle,

I'm pasting in an article below on a Thomsen's MC mutation found by a group of doctors in Australia. I believe Dr. Kumar is in Adelaide, but it looks like Drs. Vandebona and Sue are at the University of New South Wales and Dr. Davis at the Centre for Neuromuscular and Neurological Disorders, University of Western Australia . They may be geneticists - some see patients in a clinical setting and others don't. But perhaps they could recommend a doctor in Syndey who is familiar with myotonia.

Jan


Muscle Nerve. 2010 Mar;41(3):412-5.

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Kumar KR, Ng K, Vandebona H, Davis MR, Sue CM.

Source: Department of Neurology, Royal North Shore Hospital and University of Sydney, St. Leonards, New South Wales 2065, Australia.

Abstract
We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also shared the mutation. We conclude that a novel chloride channel mutation (G1652A) has caused a mild form of autosomal-dominant myotonia congenita (Thomsen disease) in this family.

PMID:20120005[PubMed - indexed for MEDLINE]

Type of Myotonia: Thomsen's

Country: USA

Re: good doctor

Hello Giselle

I live in Perth, Western Australia.

I am 46 and was diagnosed at age 4. My father has Thomsens.

My experience with the Australian medical system is to get a referral for a psychiatrist, As they are more able to prescribe the medication that you require, which will certainly entail PBS authority.

The pretext is treatment for the psychological aspects of MC.

My consultant physician, will probably be able to recommend a "fellow" in NSW that would be empathetic to your requirements if you have difficulty locating a suitable doctor.

If this is the case feel free to email me and I will ask him on your behalf.

Sincerely

Mark


** keep up the good work Jan...

Type of Myotonia: Thomsens

Country: Australia

Re: good doctor

HI Mark,

Thank you very much for this info. I will get a referral this week and I let you know how I go.

Thanks
Giselle

Type of Myotonia: Congenita

Country: australia

Re: good doctor

Only too glad to help someone navigate the "medical minefield"...

I believe it would help if you took a copy of "Lois Harford's letter for Healthcare Providers" and "Janet Stone's letter for School Staff" with you... They both offer a very accurate and succinct description of MC, and will facilitate your request.

I cannot offer medical advice, however, my experience with both prescribed and non-prescribed medications has never been entirely successful, with exception to managing the anxiety. I dont expect to be able to eliminate the symptoms, but for me, relief from the anxiety has always been of more benefit. Over the years I have developed both a high pain tolerance and created many strategies for compensating and or dealing with the physical effects of MC.

Although not a recognised prescribed treatment for MC, I use Dexedrine to treat the anxiety, and some of the physical symptoms. This cannot be prescribed in Australia unless you are diagnosed ADHD. I have found accepting this diagnosis to be of more benefit than relying on other ways to cope, such as alcohol etc...

I hope you find a solution that works for you !

Mark

Type of Myotonia: Thomsens

Country: Australia

Re: good doctor

Hi,

I am in Canberra. Originally I was put on to Mexitil by a neurologist but after moving to Canberra, I simply informed my GP that I needed a prescription for Mexitil. Since then a couple of GPs have prescribed it for me. They look it up and have no issue. Of course, none of them understand MC, but who does. Only a neurologist would.

Unfortunately I no longer take Mexitil because the side effects far outweighed the benefits. It turns out I am in the small percentage of people who have high sensitivity to all medications.

Good luck,

Jill

Type of Myotonia: Beckers

Country: Australia

Re: good doctor

I think the point here is... do the contraindications outweigh the potential benefits ?


So, I guess the question remains... What is a good doctor ?

Type of Myotonia: Thomsens

Country: Australia