Archive | November, 2013

insomnia/early morning technical errors

28 Nov

For those of you who follow me on a news reader, receive my posts via email, or were up and checking out the blog at 4am this morning, you might have noticed a very abrupt and awkward end to this post.  My apologies.  I was having trouble sleeping so decided to jot some things down and accidentally hit “publish” instead of “save draft.”  This morning John urged me to finish up the post and republish asap for fear that everyone would think we had a fetus with a devastating genetic disorder.

The finished post is up and running now.  It might seem bizarre to publish something of this nature on Thanksgiving, but it’s been weighing heavily on my mind and heart, and it helps remind me how grateful I am for the good health of loved ones.

May you and yours have a very happy day of Thanksgiving!  And a few pictures, first of the plane ride over to Minnesota (watching a two-minute cartoon on repeat 30+ times), then a sweet one my friend Stephanie took on a walk last month:

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the things we inherit

28 Nov

I’ve thought a lot about the film Lorenzo’s Oil, which tells the story of Lorenzo Odone, a young boy who suffered from the horrific adrenoleukodystrophy (ALD).  ALD is an X-linked disorder (meaning that the disease can only be inherited from the mother, a silent carrier, but it often only affects males) that disrupts how the body breaks down very long-chain fatty acids, leading to a vegetative state and death, usually during early childhood.  There’s an argument between Michaela and Augusto, Lorenzo’s parents, after Michaela kicks out yet another caregiver (this time her own sister), and Augusto accuses her of taking her anger out on others in order to avoid blaming herself and her own “poisoned blood.”  That’s my nightmare, to know that I’ve unwittingly passed on some catastrophic illness to my children.

Sequential screening is a series of blood tests with an ultrasound that women can opt to do during early pregnancy in order to assess their risks of carrying a fetus with certain chromosomal abnormalities, such as Down Syndrome.  It’s often more highly recommended when maternal age, and therefore risk of chromosomal problems, is greater, but it’s always optional.  In my limited experience, I’ve noticed that many younger women in the medical field will choose to undergo sequential screening, but the choice doesn’t seem to be as prevalent in younger women outside of the medical community.  Many of my friends have said something to the effect of, “I didn’t see the point, since I wouldn’t do anything with the results,” alluding that they wouldn’t choose to terminate the pregnancy regardless of what they learned about their fetus.

I chose to go through the sequential screening with both of my pregnancies, honestly unsure what I would do if I found out I was carrying a fetus that had an extra chromosome.  A large part of me knew that our risk was so small, that a negative (i.e. good) screen would do so much to put my mind at ease and help me enjoy the pregnancy.  And if we did have an affected fetus, I would want to know early regardless, so we could prepare, make an informed, not rushed decision, and be ready for signs of fetal distress.  When screenings for both pregnancies returned negative, we breathed a sigh and, with our pregnancy with Ari, felt like we could then appropriately celebrate our coming child with friends and family.

But I had mentioned that I have been more anxious during this pregnancy.  When I met with the genetic counselor prior to the screening (a requirement), I told her that I was surprised by how much more concerned I was that something could go wrong with this pregnancy–I had previously thought that I would be easy-peasy with the second, since I had been here before.  The genetic counselor was kind; she said that she often saw patients who were more on edge with the second, since they had a sweet, healthy child at home and had a hard time believing they could be so lucky again.  And then we went through John and my family tree thoroughly, making decisions on additional tests based on our individual risk factors and focusing specifically on any new information since my last pregnancy.  For example, John’s uncle had recently been diagnosed with adult-onset myotonic dystrophy, but since John’s mother was older than her affected brother and unaffected, we thought we were in the clear.

At least at my fertility clinic, if one is being medically treated for infertility, it is standard to test for genetic conditions for which the individual might be particularly at risk.  In my case, I was tested to see if I was a carrier for Cystic Fibrosis since approximately one out of every 25 caucasians in the U.S. is a carrier.

Another common genetic test is for carrier status of Tay-Sachs disease, a heart-breaking fatal illness without cure and only supportive treatment.  Infants afflicted with the disease start to regress between 3-9 months of age; they become blind, lose the ability to eat or move, suffer seizures, and die usually before their third birthday.  I’ve written before about the beautiful/sobering writings of Emily Rapp, whose son Ronan recently died of Tay-Sachs.  Although it is a fairly rare disorder, the carrier frequency is much more prevalent in specific populations, such as Ashkenazi Jews or French Canadians in southeastern Quebec, where the carrier frequency is about one in 27.

Only one of my grandparents is of Ashkenazi descent.  With John’s family background, the chance of us having a child with Tay-Sachs was quoted as less than one in 30,000.  I didn’t see the point of being screened during my first pregnancy.  But I did with this one–I wanted the reassurance that one less thing could go wrong.

My blood was drawn and sent to Mayo clinic to evaluate the DNA and enzyme levels.  DNA tests take some time, comparatively, so we waited for two weeks for the results.  Although I knew my risk of being a carrier for Tay-Sachs was small, I was on the edge of my seat.  When the genetic counselor left a message on my voice mail, her voice sounded a little off.  She reported that I was negative for Tay-Sachs but could I please call her back to discuss the test results.  She then explained to me that, as an incidental finding, the screening revealed that I was a likely carrier for Sandhoff disease, and that they now recommended that John be tested in order to further ascertain the risk to the fetus.

Whereas Tay-Sachs is caused by a mutation in the HEXA gene, a mutation in the HEXB gene causes Sandhoff disease; both diseases affect the activity of the hexaminase enzymes, measured in the Tay-Sachs screen.  Tay-Sachs carriers will have a lower hex A activity as well as a lower total hexaminase activity.  Sandhoff carriers will have a decrease in total hexaminase activity as well, but will have a paradoxical increase in hex A activity.  It’s a little more complicated than that, and I felt exceedingly lucky to have a brilliant friend who is going into pediatric genetics sit down and explain it all to me, a few days before her boards no less.

John was tested to see if he was a carrier last week.  Though I knew the odds were still in our favor (the chance he was a carrier was about one in 325), it’s scary to see your chances of having a kid with this fatal condition go from one in 422,000 (it’s more rare than Tay-Sachs) to roughly one in 1,300.  90% of the time I was comically shaking my head at myself: This is the price you pay for wanting to know all the things, for wanting more reassurance.  Another 7% of the time I was thinking, Well, knowledge is power, it’s good to know, and now our children will be aware for when they want to have kids.  The other 3% of the time I was out of my mind with worry.  Entire hours (hell, entire afternoons) of studying were lost scanning Tay-Sachs and Sandhoff stories online, full-on weeping by myself in our study.  I asked John to remind me daily that he thought things would be okay.

I spoke with the genetic counselor this Tuesday–she’s really remarkable, never makes me feel like I’m wasting her time, and always as helpful as possible.  She checked on the status of his blood work; it had been sent to Mayo and they expected the results by the end of the week, which would mean we wouldn’t hear back until Monday due to the holiday.  We traveled to Minnesota to visit family yesterday and, shortly after we touched down, I had a new voice message.  The genetic counselor said that she had good news (!!!) and to call her back.  It was already after 5pm on the East Coast, so I haven’t confirmed the results, but at this point we feel safer assuming the best!!  I feel like someone has untied a suffocating corset around my chest; I feel like I can breathe.

One thing a number of friends have asked is how we would proceed if we found out John was a carrier Sandhoff.  Well, since it’s a recessive disease, if we’re both carriers, an affected child would need to inherit a copy of the mutated gene from each parent.  The fetus I’m carrying would have a 50% chance of being an unaffected carrier, a 25% chance of not inheriting the mutation at all, and a 25% chance of having the disease.  So we would likely proceed with an amniocentesis, a medical procedure where a small amount of amniotic fluid is withdrawn from the uterus in order to test for chromosomal abnormalities and fetal infections.  It’s more invasive than simple blood work, but it’s a very safe procedure these days, to both mother and fetus.

If we were put in the position of knowing we were carrying a fetus affected by this disease, I can’t tell you what we would choose to do.  The decision regarding termination or continuation of the pregnancy would be more difficult than I can imagine, but I would certainly consider termination.  There comes a point, if there is no hope of life or comfort, when termination is an act of love.

At least that is what I take from the writings of many parents who love and care for a child suffering from a similar disease.  Lorenzo Odone in many respects is a success story of those battling ALD.  He died at the age of 30, 22 years older than physicians predicted.  He was loved, read to, engaged with, and surrounded by teachers, friends and family until the very end.  Yet his father answered, “If we had known, when Michaela was pregnant, what lay ahead for him, would we have interrupted the pregnancy? Yes. Despite both being practising [sic] Catholics. Not for selfish reasons, but because we would not have thought it was right to give birth to a child who would suffer so much.”

Emily Rapp also writes: “If I had known Ronan had Tay-Sachs…I would have found out what the disease meant for my then unborn child; I would have talked to parents who are raising (and burying) children with this disease, and then I would have had an abortion. Without question and without regret, although this would have been a different kind of loss to mourn and would by no means have been a cavalier or uncomplicated, heartless decision. I’m so grateful that Ronan is my child. I also wish he’d never been born; no person should suffer in this way—daily seizures, blindness, lack of movement, inability to swallow, a devastated brain—with no hope for a cure. Both of these statements are categorically true; neither one is mutually exclusive.”

I’m thankful that today we don’t have to make that decision; I hope we never do.  I’m so thankful for a sweet, curious, healthy little girl and, by all signs so far, a healthy, comfortable fetus.  And I’m thankful for my husband, family, and friends who have listened to me toil over this possibility and have continued to be nothing but supportive and loving.

I’d like to end here with a few more words by Emily Rapp, taken from an entry on her blog shortly after she learned of Ronan’s diagnosis.  Although it might not ring exactly true for many individuals (or most parents, even), it somehow gives me much hope that she could pen these words during such a harrowing time.

There is nothing we can do but love him. I don’t believe in God or heaven or angels, and at the moment I have very little faith in this world, but I do believe in the transformative power of love. Only that. Ronan will feel that love — if not with all of his faculties, than in his body, in our breath on his head, in the lightest touch, in a vibration. He will never be without it.

flying solo

24 Nov

First of all, so many thanks to everyone for the kind comments/messages/words of glee & encouragement following our happy announcement earlier this week!!  We are touched and appreciative beyond measure, and I will do a better job at responses soon!

Friday was my first solo flight with Aurelia (I know I’ve been spoiled so far!).  We took a direct three-hour flight to Florida to visit my soon-to-be 99-year-old grandmother–good genes, right?  After this experience, John and I vowed to take a break from airline travel…and then we promptly booked tickets for trips to Florida and Minnesota (for Thanksgiving) in the same week.  Oj!

The flight was a mild disaster, beginning with tears and thrashing when the flight attendant first told me I had to take my happy, playing child off the ground and hold her in my lap while we sat on the runway for 20 minutes (felt longer).  Poor little girl was fairly miserable except for the 25 minutes in which she fell asleep in the midst of thrashing (I worried she might have knocked herself out initially).

For the trip over, it was worth every penny of the $49 extra charge for “choice seats.”  The flight was undersold, and no one wanted to splurge on the two choice seats next to me, so we could sprawl out over the entire three-seat row.  (I’m sure the other passengers were also happy not to be sitting next to us.)

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photo 1 (6)We weren’t so lucky on the trip back this morning (the flight was completely packed to the brim), but a well-timed croissant bought us a good 7-10 minutes of happiness, and she loved crawling/walking/hobbling up and down the aisles until we were reprimanded by a well-meaning flight attendant.

A few other lessons learned from this weekend:

  1. After a rough day of travel and having just put the babe down for a killer nap, splitting a pint of Haagen Dazs a mere hour before dinner with your dear old dad is a great idea in theory only.
  2. A toddler who is too social for an airplane does great at a restaurant.
  3. Naked time = best time. photo 1 (7)
  4. The best babysitters for a toddler may be the four- and eight-year-old cousins who are happy to imitate her every move.
  5. If you’re 99 years old with vascular dementia but have still maintained your quick wit and snappy comebacks and your only laboratory abnormality is a slightly low albumin, you are a remarkable old bird.  Until recently, my grandmother was only on a baby aspirin daily.  She might just outlive us all.photo 2 (6)

we might just be crazy enough…

20 Nov

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Our little rascal of a firstborn is turning out pretty okay, so we thought it could be awesome to have another kid in med school.  John, Aurelia, and I are over-the-moon happy, looking forward to welcoming a new little one to our pack in May 2014!  Photos above are from Halloween, as I was just entering my second trimester, and we were starting to come out to close family and friends.

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I’m now at 15 weeks gestation and officially into the sweet spot of pregnancy.  My body seems to have fallen into its former pregnancy frame much more quickly.  I woke up one morning last week wondering if I suddenly had a bump or merely the all too standard food baby; a friend later confirmed: “Definitely have a gut.”  Tried to get John to snap a few pictures during our brief moments of overlap this evening…(not the best lighting, but I thought the scattered toddler toys add a certain whimsical, and entirely realistic, quality.)

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This pregnancy has included some interesting challenges that have had me rather preoccupied these last few weeks, though there have been a number of uniquely tender, thoughtful moments as well.  I look forward to sharing them.  I’m having trouble even imagining what having two little ones 19 months apart will be like, but we are thrilled to start this new adventure!

a girl and her dog

19 Nov

Or, rather, the one she’d love to have.  Enter Polpetta, the sweet-as-pie pup of one of our crossfit coaches.

I should begin by saying that it’s been one of those weeks that requires the frequent googling of cute baby animal pictures.  Physical ailment, anxiety over future childcare, a bit of emotional turmoil, with a sprinkle of step 2 studying woes has me returning to this article more often than I’m sure is healthy (as we are in no position to adopt a puppy, and I am coming painfully close to doing just that).

So I’m taking a break from my empirical essay on physician-parent communication regarding childhood vaccinations to contribute some babe-with-pup media to the internet.

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Aurelia and Polpetta first met months ago, when they were exactly the same height.  Polpetta loved to lick faces, which amused Ari for about 20 seconds until it definitely did NOT amuse her any longer.  Now Ari’s a little bigger, and Polpetta’s a bit calmer, and Ari’s taken to shoving her hand directly into Polpetta’s mouth and giggling hysterically.  And docile Polpetta not only tolerates my daughter pinching at her gums (as I try to wrangle her, commanding “Gentle!”), but seems to actually enjoy her company.

Babe’s content, and mama’s blood pressure has decreased.  We need a dog.

too good not to share: parenting taboos

15 Nov

My friend was kind enough to send this TED talk out, and I’ve been reposting it on facebook walls, pasting it in emails ever since.  It simply rings true.

This spring I had a conversation with a close girlfriend of mine who is also a new mother.  We were discussing the first few months, and she responded to something I had said about the difficulties, “But you were so lonely and unhappy.  I never experienced any of that.”  Immediately I felt shut down.  This woman is supportive, sensitive, and kind, and I’m sure her words wouldn’t have troubled me if I hadn’t been already so self-conscious of my feelings of isolation, the feelings I was never supposed to have.  New mothers are supposed to be elated, joyful, and so connected–but 58% of mothers report feelings of loneliness.

For my part, my isolation was not due to lack of support.  Sure, we don’t live near family, but we were fortunate to have many make the trek to visit us, to check in, to bring food.  My classmates in the city were generous, very consistently checking up on things in the middle of their own very chaotic schedules.  And a neighbor, with whom I hadn’t exchanged more than a few sentences prior to the birth of my daughter, left me all her contact information right before Hurricane Sandy hit, so that I and the one-week-old Ari could easily reach out for what we needed while John was at work.  I think it’s just normal, and very much okay, especially while we’re still struggling to find solutions like Jholabhari in India.

And I love Rufus and Alisa’s manner of speaking/presenting.  I would really like to learn how to come off as so articulate, yet also casual, funny, and genuinely sincere.

finally

14 Nov

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Looks like 13 months of parenting has bought me a half page of step 2 knowledge.  Just 485.5 more pages to embed on my brain…

On a more positive note, getting to the peds section of First Aid for USMLE Step 2 CK is getting me way excited to start electives and my peds sub-i this winter.  I’m already fretting over the days when I won’t see the babe, but I could not be more thankful for the education/work to which I am returning.