23 and me and them

I got a “23 and me” kit for my birthday from my husband, the sweet man.  He got one for him too.  For me, it’s a chance to find out a little more about my ancestry, since my mother was adopted and although she found her birth mother when I was a teen, her birth mother is not reliable on matters pertaining to her birth father.  My mother contacted her birth mother A. shortly before A. was about to move to the Southwest.  My mother went to see A. at some big family get together, she went alone.  I don’t recall whether there was discussion about any of us coming.  She came home glowing, with a long rope of a pearl necklace in a leather bag and a black and white picture of two distant looking people in long coats at a beach wall.  There were dramatic stories of how she was given the necklace by A., my mother dramatizes everything.  And there was the story of the picture, which was A. and the man A. said was my mother’s father, Mr. Coffee.  From Ireland.  “Mr. Coffee?  Are you kidding?  And also, “We’re fucking Irish?”

We’d gone through early school years in an Irish-heavy area.  Each St. Patrick’s day, it was a tradition in my elementary school to hang up construction paper shamrocks with the kids names, but with an “O'” put in front of the last name.  There was a sizeable number of “O’Italiano” names up there, mine being one of them, along with the “O’McGowan”s.  Sure, we knew that our grandma on our dad’s side had an Irish dad, but in a city where kids whose claim to being Irish came with parents with brogues, siblings back in Ireland, and weekly step dancing lessons, having a granny who is half Irish barely counts.  Plus, the Italian really just kind of overwhelms when you’re from a half Italian family, as my dad was.  So hearing in adolescence that our mother’s father was also not just half Irish but “Straight off the boat (and straight back on again apparently)” Irish was a strange counterpoint to all those childhood years of being “not Irish” when being Irish was really important.

But then the years went by and A. got older and stranger.  Not too many years ago, A. saw my brother at a visit.  During a phone call with my mother shortly after the visit, she said “You know, looking at (your son) now that he’s grown up, I’m not so sure Mr. Coffee was your father, because (your son) looks just like that guy from the party, you know, what’s his name, Chico’s friend….”

So this is a chance to find out.  Is it Mr. Coffee or is it “Chico’s friend”?  Not that this will say definitively, but if it’s Mr. Coffee, then presumably Western European  is going to represent strongly since the rest of my family tree is relatively well known, although A. herself is something of a mystery, one side traces back to Mayflower days but there is one reference to a “french canadian” great grand something and where I grew up “french canadian” was also what old fashioned, up tight WASPy people said when their WASPy New England family bloodline held some Native American.

And speaking of surprises…the second very special specialist was not bad.  One of the things he said was “I am wondering if you have a form Riley Day syndrome, it’s more common in people of Ashkenazi ancestry but…”  So I told him “Not Jewish, that I know of but my mother was adopted and we really don’t know anything about her father” and my husband chimes in with “But we’re doing that 23 and me thing”.  And to my surprise, the doc was actually enthusiastic about that.  Really, I was truly surprised because I thought “oh god he’s gonna think ‘crazy hypochondriacs!’ if he hears that we just did that”  He seemed to truly think about what might be up with me, and yes, that glorious letter that my primary care wrote helped, a ton.

Also helpful, I think, is that my husband got his work ID badge redone.  He works at Big Daddy BATH, and had originally started as affiliated with psychiatry, although what he does has nothing to do with psychiatry.  Now, his affiliation is more appropriately Neurology, so he got his badge redone to reflect that, and it reads “Mr. Patient PhD, Neurology, Granddaddy of all BATHS”  He should have added “bow to me ye mortals” to the tag too.

I do not have an answer, or a treatment plan. I  do have a very famous doctor who promised to look up some more stuff that fits what’s up with me, who said he would make his recommendations for screening and testing to either of two Autonomic specialists I wanted to go to with his referral, who said “Your primary care is right, EDS can cause some of this, but – and I’m embarrassed to say this – I don’t know how much,” who did not blow off the autoimmune stuff at all, who said that what my hands and feet do sounds like erythromelalgia (he’s the first person other than me who has said that), who discussed the possible diagnoses that he thought fit at first glance and what the treatment options would be for them.  And who thinks 23 and me is cool.   Not bad.  I’m seeing someone else, oh yes, the march continues, in December.  At least, December is when I’m on the schedule.  I will be a pest and try to get in sooner.  And I will definitely bring Mr. Patient, PhD and his magical ID badge with me.

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15 Comments

  1. Oh, fascinating! Please tell me your mom’s family isn’t in my neighborhood. Well, I’m super glad about finding a great doc who’s interested (what’s that?) and I don’t think anything is wrong with 23andMe as long as you’re not my weird father! I’m anticipating the results if you’re going to post them. I’ll be so excited if you’re a member of the tribe! The thing with the Ashkenazi Jewish diseases (and good thing as most are deadly and awful) is that they’re largely autosomal recessive, as is Riley-Day, which is a rare one. I seriously got a book–yes, a book–on Ashkenazi Jewish diseases at the library a decade ago and crossed each one off the list trying to Dx myself! Haha. I’ll presume you know all this, but as that is so rare outside my ethnicity, both your parents would have to be carriers and presumably have Ashkenazi blood. Most of our genetic diseases are neurological in nature and some of it would fit, though. I wonder if you could have some bizarre mutation? I think that’s epigenetics and then I get lost. All the autonomic dysfunction, which is different from yours, is from my father (no EDS), so I still wonder. Hmmm.

    Oh, too funny about the shamrocks and all that. I never had to do the O'(Jewish surname), which is cracking me up. Yeah, things weren’t very PC in my neck of the woods in grade school and not heavily Irish like your spot, but still sucky. It’s why I have such an aversion to Christmas anything and Easter anything: all those art projects for holidays I didn’t celebrate. Lol! The schools celebrate everything now, which I find rather amusing, but good as we are a hair diverse in the US.

    Love Mr. Patient’s ID. I’d wear that to Wally World here, not that anyone knows what a PhD is. Good stuff!

    Reply
    • My St. Paddy’s thing is the closest I have come to knowing what it must be like to be the only Jewish kid in a room full of gentiles coloring in their effing christmas trees. It was eye opening, and fortunately quite circumscribed.

      Yeah, I figured with the Ashkenazi stuff it was recessive, what with the endogamy. And I’ve read a little about it now and if I have that, it’s definitely “some form of that” and not clear cut bad bad nasty bad “that”. I don’t think I have it. But hey, who knows on the Jewish ancestry. Certainly have plenty of Jewish friends, but that’s more likely from having gone to big Jewish U. for three years as an undergrad and not from any sort of mystical connection.

      Reply
      • Haha! Yep, that was me as a kid! “You don’t celebrate Christmas??!!”

        OK, just had to Google “endogamy.” Lol. Yes, that would be us but I always read about consanguinity in terms of the crappy genes. Synonyms I suppose. Oh, one day I’ll have your vocabulary, but too many Latin languages floating in my head still.

        Mystical connection! Funny. It’s all about the humor, the kvetching and so on. You have to have a special skill with identifying fellow lantzmen, as well. I had my sclerals in at Walgreens (yeah, that one in my ‘hood) and this guy walked up to get his Rx looking like a total schlump and my brain said, “Jewish” based on something about his face Totally out of place and when they asked his surname, he said, “Kaplan.” Oh, that was sooo great. 🙂

        Well, I’ll still like you even if you’re Italian/Irish + WASP… Whatever.

      • Mr. Patient’s mom is so old testament, she cracks me up. Celebrates the old testament holidays, but she’s very much a christian. We had one amusing, in a sort of risky “pissing off your mother in law” way, exchange where she was going on and on about how there are Jewish congregations that believe that Jesus is the messiah blah blah blah. I said “Oh yeah, Jews who believe in Jesus? I think I’ve heard of them. They’re called ‘Christians’, right?”

      • LOL! Wow, and she produced Mr. Patient? How odd. Oh, that would drive me bonkers. Yeah, just remind her the 1st Christians were Jews and the rest of us are still waiting for the Messiah. I mean, I’m just twiddling my thumbs here and pulling the rest of my hair out! Maybe she met up with the Jews for Jesus crowd, although I’ve yet to meet any who are actually Jewish, so I think that’s a huge misnomer. :/ Oh, the holidays must be so fun for you!!!

      • Fortunately, they are several states away and Mr. Patient is not big on the visiting of the family. But yes, when they were local, we did have some not very fun holidays. I think part of why Mr. Patient is so very reasonable is partly in reaction to that silliness. He’s very non-religious. You should hear him on the phone with his mom when she gets going about end times or gay marriage. He’s very adept at having these logical debates with her without losing his shit. I don’t know how he manages it, I guess it helps that other than this sort of thing, they aren’t bad people and he doesn’t have a whole family history of cruel dysfunction. It helps make disagreements less disagreeable I guess.

      • Well, glad it seems isolated to just that. I do remember you saying they lived elsewhere now, so all the better! 🙂

  2. I enjoyed reading this post – made me laugh. When I took Gen to genetics and they asked to learn more about the father’s side, there was so little I could them although they are the typical “pure laine québécois” family which would make is so easy to have a good history. They’re so proud of who they are and their “pure laine” ancestors. Given that, it’s rather odd that I know nothing about them, but the thing is they’re just not interested in Gen and her current state. They just don’t care. I never heard of that 23 and me testing. I should look into that… EDS seems so complicated to me now – full of different symptoms and perhaps even associated with other syndromes (can I even say that???). As I read you, I realize I’m more confused than ever and now all I know is that Gen has a “connective tissue disorder” and a all sorts of endocrine disorders and odd neurological stuff going on. How do we sort this out?

    Reply
    • Thank you, I’m glad you liked the post.

      I looked up “pure laine québécois”, interesting term. I’d never heard it before, but yeah, you’d think they’d know all about the family tree if they are making (proudly) that claim. I know what you mean about lack of interest, and in that situation, you’d hardly want to reach out.

      Sometimes families are reluctant to talk about their illnesses, or I think also that because people tend to isolate and invalidate people who are chronically ill, the families who do that can’t give good info. I had an aunt, one of the ones with thyroid problems, who I know had a history of unexplained pains and illnesses. Apparently her mother used to make some snide comment about it. But that’s about all I know. She died before I had a chance to get a real history from her and her siblings are just like “Yeah, she always had some complaint…” Not super helpful.

      The 23 and me thing looks interesting. And they dropped the price recently. My primary care had mentioned it to me a little while ago and I looked it up and was like “woah, pricey, no thanks” but now it’s down to $100 so we did it. One of the things I like about it is that there is a lot of research that they can do from the samples and the surveys that they offer for you to participate in. I am hopeful that if enough of us EDS-y people do this, they’ll start having a better sense of the genotypes that give rise to it and the comorbidities.

      I do not know how to sort this out either. Frustrating. Tough.

      Reply
      • I figured you would look into the “pure laine québécois” meaning. lol I often use it in a bad way though although I didn’t this time. I’m French Canadian but mixed with all sorts of ancestors from who knows where – we also have the Irish skin here from my dad’s side – and there is just no way for me to know anything about my background because my family name is Parent and if you look that up, at one point people we’re referred to “Joseph, parent of …”. How in the hell are we suppose to make that out. We all became Parents! I don’t even know what my family name would be. :S Talk about a mix up! So I’m thinking that the test could be an interesting thing and thankfully it’s affordable. It would be interesting for my kids to find out what’s mixed with the “pure laine” and to have a small idea of what I’m carrying around. This morning I was talking to Leigha (my eldest daughter) who is now coming up with the Gen symptoms. Leigha is struggling health wise and this is hard for her as she’s at a point where she’s trying to get on with her studies but she’s always exhausted, nauseous, and in pain. She can’t stand washing the dishes or anything like that because she is oversensitive and as she was talking about that I told her “I don’t understand why both you girls are so affected”, I have all the same symptoms but mine are barely noticeable – meaning I can easily manage them although I always have to pick myself up (from feeling tired or whatever). So anyway, so happy the 23 and me is available to us here – will definitely check it out soon. And yes, it would be great if enough EDSers did it!

      • Wow, “Parent”, it’s like the Ellis Island treatment here in the US.

        I’m so sorry to hear Leigha is getting symptomatic too. Maybe they both drew short straws on something recessive.

        I feel the same way about my migraines. They’re supposed to run in families but I have NO ONE in my family who gets these daily brain scrambling headaches in the summer like I do. My sister has some migraine symptoms, now and then, sort of. But nothing like mine. I keep wondering if I drew the short straw in the gene lottery or something.

      • Could your headaches come from orthostatic intolerance? When Gen was tested they also told her she had intracranial hypotension… Her headaches only gets better when lies on her back. And yes it’s a bummer for Leigha and it worries me. Looking back at my dad’s condition, the girls and myself it looks dominant.

      • Hey all (or Sheep),
        Sorry to butt into to the personal conversation (I just hit follow comments), but can you put your DNA with contact info up on 23andMe? My dad did that with some company before 23andMe. Sheep, we have the same issue as you do in my culture. Until the early 1800s, we were referred to as son of so and so. Ben = son of, akin to Bin or Ibn in Arabic. For most European/Russian Jews (Ashkenazi), this was changed when we required to take surnames by Napoleon and Catherine the Great, but I have Sephardic relatives (just Google!) who have names like Benezra in the US (son of Ezra). That’s also useless as the names changed with each generation! Ugh. My surname is a caste name, so Hebrew (not Germanic, etc.), but the names are just useless like yours as they’re so new and came out of nowhere.

        I can’t contact my father to ask him, but there is this company that does DNA testing (not for medical reasons) and it gets as close as 4 gens. back I believe and they have a registry where your info is imputed. My father put his e-mail address and we found a 2nd cousin back East and a whole family (2nd cousins) from my adopted grandmother’s side in Argentina (via Russia). The look is unmistakable so these ARE relatives. As you speak French, I’d highly recommend this because you may find people in France (or Ireland, etc.) and get some info. Well, it all depends on if they put info up! We also did a lot with Ancestry.com, but got stuck in America (or the boats) due to the destroyed records in Europe post WWII, but you may have better luck!!! It’s time consuming, but may be worth it and rather fun. Canadian info is on there, as well. The info from ship manifests can be useful, but we had more luck finding headstones in the US (the cemeteries send photos or in the US, at least) and I translated the Hebrew to get the names of the fathers (Ben so and so). If you have this tradition with headstones, that may be of help, as well. We have a huge family tree now that we never knew a thing about! Of course, this is the non-EDS side, but figured I’d share. You may be dealing with a rare, autosomal recessive type of EDS here–who knows? We have a fatal disease (recessive) seen almost elusively in Ashkenazi Jews (Tay-Sachs) and many of us are carriers, and the only other group it really shows up in are the French Canadians. Food for thought…

        Last thing… Per your mild case like my mother (well, rather mild), look into null allele mutations. This is getting into Greek for me, but it’s been identified in CEDS now and results in very mild cases from my understanding, which may explain my mother. No testing yet, but something to keep on the radar!

        OK, get back to your convo and sorry for the ramblings (hope anything helped!)… I have PT for the 1st time in over a month so off and hobbling!
        A 🙂 (Thanks, D, for letting me hijack your blog!)

      • Wow A! You are so smart. Lots of food for thought. I need to read all of this again as soon as I have a moment during the day. Such a different life to be working. 😀 Thank you soooo much!

      • Hi Sheep (and D),
        Just passing on info I know–that’s all… And hijacking D’s blog b/c I’m too tired to post! No Einstein here, but I did a lot of genealogy before. Btw, I found that DNA test my dad did that is just for identifying ancestry/finding relatives through their database (might be of interest to you both):
        http://www.familytreedna.com/
        They have a special on their test that covers paternal/maternal lines (and yes, as close as 4 generations–so all 16 great-great grandparents). It’s the box in the middle: “Family Finder.” I believe the low cost is to compete with 23andMe as the test is over $300, but now $99 USD. Again, no disease info, but you can find relatives if they’re registered on the site (your side or your ex’s if Gen does it). Oh, I looked into your ex’s ethnicity more (I think the “pure laine” is funny because I understand the French and went to Quebec if you recall). They actually get a few other things that we do, especially cystic fibrosis, but also some bad neurological diseases, which is rampant with us due to the cousins marrying cousins thing, which is what they’re bragging about. Lol! It just makes crappy genes, so even though Gen doesn’t fit the two, recessive types of EDS, I do hope the geneticist asked about ethnicity as mine did, not that it mattered with EDS, but yours would know about the pure laine thing. Could be a totally new mutation in all honesty as they keep finding new ones and those are super rare.
        Don’t work too hard!
        A 🙂

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