Monday, 11 November 2013

45

I am 45 years old today. I have hugged and kissed my children daily. I climbed 48
floors in 12 minutes and ran my first 10 km race! I have enjoyed and rejoiced
in every new experience. I have also sunk a little but not drowned in some
amount of turmoil, pain and despair. I have had my arms open to welcome
whatever life throws my way and all experiences have left me with a few
valuable lessons. Today is a good day.

Sunday, 27 October 2013

Queen of the nerds.

Today I got back from the annual American Society of Human Genetics (ASHG) meeting in Boston, a bacchanalian feast of new knowledge, new technology, new cases, new unknown diagnoses and overall cool stuff.

Every two to three years there is a new "theme", in DC it was genome wide association studies (GWAS) and EVERYBODY was presenting their findings. This year the prevailing theme was whole exome sequencing (WES) which was used over and over and over again for finding new genes and while it is always cool to find new stuff after the first few presentations it was like, duh!! and frankly it got a little repetitive. On top of it all, VERY little clinical information was presented to tell us clinicians what to look for so that is disappointing. The take home message this year was: until you have money to do exomes on a regular basis you will continue to be stuck with puzzles you cannot solve.

The other great part of this meeting is the reunion of colleagues, people from all over the world that you have at some point been in contact with and you don't get to see regularly - all nerds like you, trolling the halls of the convention center, getting excited about genetics and talking science. How cool is THAT?

So it got me thinking: How nerdy can one be among the nerds? Well, here are a few of the excessively nerdy things that would put one in the Queen of the nerds category.

1) You make sure you got dressed up everyday JUST in case you happen to unexpectedly run into Karl Deisseroth because you are his number 1 groupie.

2) You sit there during lunch and gawk at Genetic celebrities and legends who walk by like normal people would at an LA celebrity tour.

3) You walk by a group of people meeting during lunch and overhear "How bad was the macrocephaly?" and you secretly hope you could sit at their table and join the discussion.

4) You curse the organizer who scheduled two cool presentations at the same time.

5) You avoid all population genetics lectures because that is where the REAL nerds hang out.

6) You make sure to find the most efficient way to get from one lecture hall to the other without missing the start of the presentation.

7) You consider buying the new edition of the Smith book but then start looking through it and recognize EVERY picture while saying "that was in the old one" and realize there is not much they have added so it not worth the moola.

8) You sit there and gasp in awe when JB Lawrence talks about Xist and trisomy 21 while getting goose bumps despite having read her paper a few times before and then make sure you LEAD the standing ovation.

I think I qualify for the title, Queen of the Nerds!!!!



Tuesday, 10 September 2013

Nagging IS loving behaviour!!

At home I live in a world of men. Let's be clear, I gave birth to a couple of good eggs, they are in essence, very good humans, compassionate, kind, aware of others needs, intelligent, they study hard, behave well and in general cause very little trouble.

But lately the resident pre-teenager, the resident teenager and I have been having this ongoing issue at home. Tidy the corner, brush your teeth, take a shower, why are you wearing the same shirt from yesterday's soccer practice, no, you cannot eat fries for the 7th day in a row, whose gross socks are these in the middle of the stairs, etc... In summary, according to them, I nag too much.

So I've been thinking. what exactly is nagging and what is loving behaviour? What is that blurry line that differentiates nag from love? And today the answer finally came to me! Ready? If the nagging implies future well being then ........................... drumroll please .............. IT IS LOVE!!! If I can follow my "nagging" with a question or statement that predicts future well being then I should be absolved from the sin right?

Okay, here goes.

1) Brush and floss your teeth. Do you want to have teeth when you are 80? --- LOVE!

2) NO MORE FRIES!!. Do you want to live past 60? ---- LOVE!

3) DO NOT wear yesterday's soccer practice shirt AGAIN! Do you want people to come close to you? --- LOVE!

4) Wash your face. Do you want to be free of flesh eating disease? ---- LOVE! (ok, ok that one is a little apocalyptic but it will probably work)

5) Shower. Do you want to be free of all diseases? ---- LOVE!

6) Mind your table manners. Do you want to go to a lunch job interview and get the job? ---- LOVE!

6) Tidy the corner ........... mmmmmmmhhhhhh having a hard time with this one so maybe I'll give ---- NAG!

But to save you all the trouble of having this debate at home I will give you the MOST important pre-teen and teen parenting advice you have ever been given. Another drumroll please. You can add: "Do you want to have a girlfriend?" to any and all of the above and be EFFECTIVE! Plus you'll have to use a lot less words.


Tuesday, 25 June 2013

Be prepared!

Today in clinic one of my patients asked: "How old are you Dr. Lopez?" Ever the developmental pediatrician I turned the question around and asked: "Well, how old do you think I am?" After sheepishly turning to her mother and her mother reassuringly telling her that she could answer the question she said: "Maybe about 80?" God. Bless. Her. Soul.

Last weekend, #2 and I were going out for a bike ride and as soon as I got on my bike I realized my back tire was flat so I turned to B and said "Crap B, we have an air problem" to which he quickly replied "Or .... do we have a weight problem?" I laughed and went to smack him on the head before I realized he had a helmet on and I would have hurt myself. Smart ass.

What is it about kids that they can so unabashedly put forth their opinion? Somedays I really wish I was 5 and had the opportunity to boldly say everything I am thinking. If you know me at all I am not one to go around life in full verbal restraint, quite the contrary. I say what I mean .... most of the time and I think also most of the time I do it kindly. I think, as we in the profession would say, have pretty decent social skills. Then again maybe I should take an official poll.

I run across people with all kinds of social skills (and lack thereof). If you read my facebook posts you would know that last week I was asked if I was high because of my fake blue eyes. This woman just out right asked about the weird size of my pupils. At first I thought .. hang on .. what did she just ask? And then I thought kudos to her to be bold and ask if the doctor treating her child is using drugs. I don't think I would have had the guts to ask myself frankly. Was it lack of social skills or gumption and assurance? I say the latter.

The secret here is the meaning one gives to the comment - think it funny and not insulting and it becomes fun and witty. Think it insulting and it's hurtful. Think it bold and forward and it becomes a statement on self-assurance.

So from now on I choose not to assume any wrongful/weird/odd intention in any comments and/or action. If I do not know what they mean - I WILL ASK! Be prepared!!





Friday, 22 March 2013

Plane rides - Yuck!

When does one go from being the perfect traveler (as I used to be) to being the phlueeezzze-do-not-sneeze-cough-or-have-any-other-health-related-symptom-fellow-seatmate uptight anal traveler?

When do you go from: la-di-da I love planes to CRAP that guy in the row in front of us just blew his nose TWICE, TWWWWICE? When did I go from: I'll just read sit here in my (very small) seat and read my book quietly to HANG OOOON didn't that lady JUST go to the bathroom a minute ago, WHY is she going AGAIN?

I'LL TELL YOU! You become that traveler when you work with children day in and day out and have come to realize the power of a single sneeze, the power of a single, cute, but nonethless grubby boogery hand on the ball you are throwing back and forth, the power of a mild cough on the dollhouse you have chosen to use for playing.

YES! THAT is when it happens!!! Despite the fact that we get daily, DAILY e-mails warning workers and parents NOT to attend the hospital if you or your child is sick. Despite the fact that two years ago during the H1N1 epidemic we were fitted with special state of the art masks and DESPITE the not voluntary flu shot.

Seeing as how we go to such measures to prevent this kind of spread in the health care system why not try it on the travel industry. I can see a we-are-taking-your-temperature station right next to the homeland security X-ray machine. Walk right up, "let us place this in your ear: 37 C - go ahead sir/madam, you are good to go". "Next - 38 C - neeeeeeh! (cue bright lights, alarm and a big THIS TRAVELER MAY BE SICK sign) sorry sir/madam you cannot travel today"

We could also have a quick viral/bacterial/parasitic screen a la Star Trek. Beep de doo, beep de doo (or some other much cooler sound like ZIIIIINNNNGGGG) scanner with some kind of state of the art laser thingie. Scan, deduct personal non-pathogenic microbiome, find bad bugs and .... DONE!! Yes, you can travel or no, you are staying put.

Am I sounding too Aldous Huxley-ish? I probably am, but wouldn't that save us a lot of grief? Having spent that last two holidays and/or after holidays with either brutal GI and/or respiratory symptoms I support a world wide airport health surveillance system (sell that in Obamacare eh?).

Imagine, there would be no need for a Measles health alert at the Houston airport. We could have stopped the spead of HIV, Ebola (has that spread? excuse my ignorance), stop the spread of polio, TB, rubella, chicken pox, rotavirus, norovirus (you get the picture) plus the very worrisome swine, bird or whatever the animal du jour flu. We could in general make ME okay for all future holidays.

 I say WELL worth the investment :))) d'accord?

Friday, 15 February 2013

Lenten anniversary

I was reminded that it was last year during my brief, okay, very brief, foray into Lenten self denial that I started to write this blog. Happy Annivesary!

People have decided what they are giving up for Lent by now, actually they should be already 48 hours into their misery. Many of them chose to give up Facebook, god knows what they are thinking since we all know that one is a doozy. I know it's a doozy, been there, done that, okay done it for a few days - Did. Not. Work.

Besides how do we keep all of the Lenten facebook giver uppers accountable? For all we know they look at posts all day long in secret during their work breaks, furtively look at their facebook app under the table during important meetings, hide under the blankets at night and turn the phone on to check on us all or wake up in the middle of the night and sneakily take the phone or laptop to the bathroom because the withdrawal is unbearable and they are starting to shake and shiver thinking "WHAT AM I MISSING?" OH YEAH -- IT'S FACEBOOK!! Not that I would know how that feels like of course, I'm not some kind of weird facebook junkie :)

So here's the deal. There really is no need to give anything up, the secret is SELF REGULATION. So for Lent I will .... SELF REGULATE.

First, I will nag less ..... hhhmmmmm sitting here thinking and changing my mind about that one. Lack of nagging leads to lack of finished tasks that then become my tasks so..... no, forget that one.

Second, I will drink less Diet Coke ...... hang on that will make me cranky and I will annoy everyone else and make Lent miserable for them. Really, me drinking the right amount of Diet Coke makes everyone's life better so in reality it is a public service I offer to the world. No need to regulate that one, as a matter of fact - you are welcome people of the world

Third, I will eat less chocolate .... whoa! is that wise? I would hate to single handedly affect chocolate sales and bring the entire industry to a halt. Nope, forget that one too, it is absolutely necessary that I continue to support the world's economy.

Fourth, I will post less ..... wait people ENJOY my posts, another public service I offer (I'm thinking I deserve a well earned medal) so why take away my friends enjoyment and happiness for my own sick purposes.

Well, well, well, it looks like I am doing everything right. So to all of you reading this enjoy the next 40 days I know I will. And may I just say again - YOU ARE WELCOME!




Tuesday, 4 December 2012

The week after

Last week I turned 47 and posted a list of new lessons and happy events. Since then I have been feeling melancholic.

The final straw was waking up this morning and finding almost 6 feet of  #1 (the 11 pounder) at the sink SHAVING! This led to a teary panicked Oh-my-god-so-many-milestones-I-cannot-believe-this-much-time-has-passed moment while hugging said teenager and watching his eyes roll to the back of his head in the mirror. He was however, kind enough to indulge me in my hug and tears, he stood still without swaning (swaning: the behavior displayed by all teenagers in which they turn their head and neck AWAY from the kissing mother) despite the fact that I know he was thinking: "Jeezuzz christ you lunatic woman!!!".

I have to say that when I was younger and thought about getting older I NEVER thought of being almost 50. That is not to say that I thought I would be dead, it's just that the thought of aging did not  EVER occur to me. I thought about some milestones, frankly there were mostly academic related milestones like high school, University  medical school etc.. Even marriage and having children were not too pressing in my mind. I remember my father saying once that "I was too smart to get married" so I kind of assumed if it happens, it happens.

People used to talk to me about childhood, adolescence, early adulthood but they didn't really talk to me about aging. My mother never said "Oh when you are older you are going to LOVE the changes your body experiences (that little bit of advice was given to me when I became an adolescent). Or "Prepare yourself because one day you will find yourself in front of the bank machine and you will not be able to recall the PIN you have been using for the last 5 years." I know, I sound like I'm 80 and I am not, but let's say it: aging sucks in general EXCEPT for the self confidence and experience it brings. End. Of.

After much pondering I have decided that aging is a process that starts with time that is now pointed by other people's, my children in this case, milestones. I mean it's not like I'm going to get learn to drive or get a driver's licence or find my first girlfriend/boyfriend or experience my first kiss or marry or have my first child. Been there, done that.

So I've been wondering, what are the after 47 personal milestones? ................... Deafening silence ............  Grandchildren? Menopause? Affairs? Divorces? Second marriages? Botox? More silence. Retirement? For me that would be death I cannot imagine not doing what I love and the happiness and self-fulfilment it brings me. Yikes! What then?

I am now positively sure that this mindful moment of YIKES! is when middle aged out-of-shape individuals decide they need to climb Kilimanjaro or Everest, embark on a bungee jumping tour, make an attempt on the North Pole, do some base jumping, try downhill mountain biking (guilty), start running marathons (also guilty) or cook themselves in hot yoga (again guilty).

So ... my milestones list:
1) Start the adolescent Fragile X trials
2) Run the half marathon in support of Fragile X fundraising in June
3) Try not to forget stuff

Lofty goals eh? All very trivial but really folks .......... what else is there?