Comment by Roguedr | Hacker News Reader

Comment by Roguedr | Hacker News Reader

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Apologies for hijacking the top comment, I do not know where else to ask this and I found no local researchers:

My son was born 3 months ago with Poland syndrome. This came as a shock but it has also drawn me to look into the scientific literature.

While the common belief was that PS has no underlying genetic cause, there are papers suggesting that the may be.

Studying - I ran across many anomalies on my own body (his father), so minor that there were never considered relevant until now (I'm 40 and lead a normal life).

It would seem that on the right side of my body I have at least:

  - A mild case of Becker's Nevus
  - Single palmar crease 
  - A somewhat smaller shoulder blade (suggesting a Sprengel diformity?)

If the above is correct, this may be an opportunity (by studying my genome and my son's genome) to establish a link or a common cause for Becker Nevus Syndrome and Poland Syndrome - both fairly rare anomalies.

Can you suggest who may be interested in studying this?

This has no value for me or my son, however the scientific endeavour may be of value for the future.

I just wanted to wish you all the best. I really empathize. It felt unfair to discover the statistics on birth defects vs age of the parents -- there's almost a linear correlation between age and defects, and no one ever told me. I'll be 34 in Feb, and I've wondered many times whether I'd be a good dad if our kiddo pops out with a few missing pieces. (We're finally in a position where IVF is on the horizon, so it's a constant worry.)

It's incredibly inspiring to have an example like yours. Thank you so much for trying to connect with researchers to help them understand the disease, even though it "has no value for you or your son." Your attempt has a lot of value as a model to follow. I'll try to do the same thing if we end up in a similar position. Good luck!

Do you have any links about that?

I've never heard of this correlation and have friends that became parents at 50 so I am curious.

I know that the older you get, the riskier it is to have children, but had no idea it was a linear correlation.

It's ridiculously hard to discover. I tried to signal boost it at https://twitter.com/theshawwn/status/1441657590501445651 but depressing facts tend not to get much traction.

From https://news.ycombinator.com/item?id=28650922:

> A woman’s peak reproductive years are between the late teens and late 20s. By age 30, fertility (the ability to get pregnant) starts to decline. This decline becomes more rapid once you reach your mid-30s. By 45, fertility has declined so much that getting pregnant naturally is unlikely for most women.

> Down syndrome (trisomy 21) is the most common chromosome problem that occurs with later childbearing. The risk of having a pregnancy affected by Down syndrome is

> 1 in 1,480 at age 20

> 1 in 940 at age 30

> 1 in 353 at age 35

> 1 in 85 at age 40

> 1 in 35 at age 45 [2]

My jaw dropped.

I probably shouldn't claim "birth defects" in the general sense, just Down syndrome specifically. But the wording of "most common chromosome problem" seems to imply that this is a pretty reasonable inference.

Had no idea I was risking my kiddo's health so much by waiting.

Holy cow. That's pretty scary!

1 in 35 is a lot.

Thanks for that!

My wife and i had kids at your age and 15 years on we're all doing very well. We know older parents, also doing well. We were told there were some risks increased for an older mother, but with hindsight these were small percentage chance of something to a slightly larger but still very small percentage. True, no one wants to be the rare bad case. If you're planning pregnancy, i think i recall it's good if the mother has Folic Acid, but I'm no scientist. https://www.cdc.gov/ncbddd/folicacid/about.html Good luck, I hope it works out.

There is also Matchmaker Exchange who's aim is to be a clearing house where very rare diseases become slightly less rare when patients can locate someone else with the same thing. So an answer to who may be interested, could be someone else who has your symptoms.

https://www.matchmakerexchange.org/

Poland Syndrome may have links to other forms of syndactyly, so you maybe able to narrow down some of the patterns, which could include cultural diets or local environmental factors. https://rarediseases.info.nih.gov/diseases/13181/syndactyly /Edit** This also explains a bit about gene regulation ie switching on & off and ramping them up or down https://www.ncbi.nlm.nih.gov/books/NBK26872/ /Edit** Clues would be looking at conditions with the same properties like webbing and if its exactly the same condition, treatments for these other conditions may become relevant.

There is a lot of studies on Google Scholar and it goes back to the 1800's. Some studies in livestock or vegetation (crops mainly) can also illicit clues because despite being different some chemical reactions or some end results will be the same in humans and animals and plants. You just cant change some of the chemical reactions, melatonin be one that is seen in humans, animals and plants, it increases in darkness.

Just about any researcher who published on it. It’s not unusual to see an article describing single clinical case.

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