Genetic defects in children/people 1

An amazingly interesting and significant article in this morning’s Herald Sun.

It’s author claims that “10 per cent of the population has a rare disease,” i.e. of some kind or other.

She says that it became clear that her baby daughter Olivia could be one of them when  she was four months old when she “stopped meeting milestones.”

“That was followed by two years of illness, operations, tests, tears and misdiagnoses that threw up more questions than answers. We also found out about more organs that hadn’t formed in quite the right way, more habits that couldn’t be explained.”

She says, “I knew things weren’t right but none of Olivia’s doctors, specialists or therapists could clinically diagnose what was wrong.”

Then last month the answer seems to have come through what is called “Exome sequencing,” – Olivia has Kleefstra Syndrome, something that only 300 people in the world have. Now treatment can be directed properly.

Those with questions about any of this could visit the website swanaus.com.au and/or email the author of this article, the Herald Sun journalist Kate McMahon who provides her email address in the article – kate.mcmahon@news.com.au. Kate may be prepared to provide answers to a few questions or direct you to others who can provide them.

Or you could email us – info@questionsmisc.info – perhaps some of our readers could provide answers.

One aspect of this article is interesting – we’d love to know how much Medicare money was wasted on subsidising the “doctors, specialists and therapists” Ms McMahon saw in the “two years of illness, operations, tests, tears and misdiagnoses that threw up more questions than answers” before she located Dr Zornitza Stark who seems to have come up with the right diagnosis. Our guess is a lot more than the $6,000 the Exome sequencing cost.

This has become one of our real “hobby horses.” There are so many what we call “waste of time” doctors, specialist and therapists around. Our guess is that at least half the money Medicare pays out is wasted on these people. Are governments ever likely to do anything about this? Ha ha ha ha! Ha ha ha ha!

And another of our real “hobby horses.” Why isn’t more being done to help people – even, would you believe it, GPs – to locate exactly the right people to deal with special medical problems much more quickly?  Why did it appear to take Kate two years? Are governments ever likely to do anything about this? Ha ha ha ha! Ha ha ha ha!

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