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stoicsticks8 karma

The Invitae comprehensive carrier panel tests for over 300 genetic conditions in a parent, including Zellweger syndrome. It cost us $250 without insurance coverage.

I'm assuming that this checks for only the most common mutations within each genetic disorder which could make you think that you're not a carrier, when in fact you might have something that is beyond the scope of the test.

I'm a carrier of a very rare cystic fibrosis mutation that I unknowingly passed onto my son, but the rare mutation wouldn't have even shown up on a carrier panel specific to CF which looks for about 90 mutations. The test which found it looks for all known mutations, of which there are currently over 2100, but the test costs a couple of thousand $.

The Invitae test would have given me a false negative result. It's better than nothing, but its not without its limitations.

stoicsticks5 karma

I think for those who are in a similar situation as you were then, an important question they could be asking their doctor is, "does this look like anything that you would normally see in a different age group or different ethnicity?" So often rare disorders are overlooked because one doesn't fit the mold of what is already so rare.

A family member has not one, but two rare disorders, one of which he was diagnosed late with and is likely the only one in Canada with his rare mutation, and I'm grateful for doctors who think outside of the box.

stoicsticks2 karma

If you didn't get a Make a Wish as a kid, you may be able to apply for a Sickboy Podcast adult wish for a swim spa. March of Dimes also has programs to help out with assistive devices, although a swim spa may be out of their scope.

Sickboy podcasts are worth checking out for their interviews of various chronic health issues.

stoicsticks1 karma

Sometimes Drs prescribe an extra strength antiperspirant that you rub on the hands and feet of someone with aquagenic wrinkling. Does your daughter have cystic fibrosis? It is a typical symptom and has a different root cause than AP.