Last night, I found out that I have a twin! I saw the guy across the room at a bar where a few of us (Paul, Cathy, Jeff, and D) were partaking in a Seinfeld Trivia Contest. We got slaughtered, I've never been so humiliated with my lack of Seinfeld knowledge! What do these other people do, just sit around and watch it all day? An amazing wealth of valuable knowledge these people have, though. I'm jealous!
We are still waiting to hear back from the IVF clinic about the lab that is going to do genetic testing on our embryo someday in the future. Unfortunately, it looks like it will be with a place called Reprogenetics in New Jersey rather than a lab in Chicago (RGI) that I would prefer to use. Reprogenetics has a barely-legible, horribly designed website that even gives javascript SSL certificate errors! I'm going to pay this place thousands of dollars to test an embryo but they can't even make a functional website?!?!? Anyway, somehow I found this nugget of information that is a good overview of stuff:
Myotonic Dystrophy, also known as Steinert's disease or Dystrophia Myotonica (DM) is the most common form of muscular dystrophy, affecting roughly 1 in 8,000 people. The disease has a variety of symptoms including an inability of muscles to relax after contraction, respiratory problems, adverse reactions to anesthesia, cardiac disease, difficulty in swallowing, digestive problems, excessive sleeping and mental disorders. People with DM are more likely to develop diabetes and cataracts later in life. The extent to which these symptoms are manifest varies between individuals. Some individuals remain undiagnosed because their symptoms are so mild. However, at the opposite end of the spectrum infants with the most severe form of myotonic dystrophy often die shortly after birth. In many cases the disease displays an effect known as "anticipation", which means that the symptoms become progressively worse with each generation.
Myotonic dystrophy is a monogenic disease, caused by the inheritance of a single defective gene. Everybody inherits two copies of the myotonic dystrophy gene (one copy from each parent). The inheritance of one defective copy of the gene is sufficient to cause myotonic dystrophy, in other words it is inherited in a dominant fashion. This means that if you are at risk of transmitting a defective myotonic dystrophy gene on average 50% of your children will have the disease.
It is possible to test the myotonic dystrophy gene during pregnancy, thus revealing whether the fetus is affected with the disease. If the fetus is affected then the parents face the difficult decision of whether to continue with the pregnancy or have a termination. An alternative to prenatal diagnosis is to use preimplantation genetic diagnosis (PGD), a method that allows detection of myotonic dystrophy in embryos before they implant in the womb. The main purpose of this test is to allow patients to have children unaffected by a specific inherited disease, without having to contemplate termination of an affected pregnancy. We have developed state-of-the-art PGD tests for myotonic dystrophy that has been successfully applied resulting in the birth of unaffected babies.
To perform the PGD test it is first necessary for the parents to undergo in vitro fertilization (IVF). Using IVF a number of embryos are usually produced. The embryos are grown in an incubator for three days, by which time they consist of a small ball of about eight cells. At this point a single cell can be removed without harming the embryo. The cell can then be subjected to genetic analysis to determine whether it carries a defective copy of the myotonic dystrophy gene. If no defective myotonic dystrophy gene is detected then the embryo is diagnosed as unaffected. Unaffected embryos can be transferred to the mother’s womb and any resulting pregnancy will be unaffected.
Tuesday, January 26, 2010
Thursday, January 21, 2010
Gossip Monger
I still haven't written about DC! GASP! AWWW! AGGGHHH! Oh, the humanity. I think people will survive. Anyway, I think I really love DC - for visiting anyway. I mean, where else in the country can you get so much historical culture on every corner? A few thoughts about DC that I will mention:
Speaking of that, Erika and I recently had a little appointment at the NYU Infertility Center with Dr. Alan Berkeley. Some of you know about this Myotonic Dystrophy that I've got. The fact that it is a genetic disorder means that any offspring of mine have a 50% chance of contracting it - and it could be a lot more serious in the next generation. The only way to get rid of it is by doing something called PGD (Pre-Implantation Genetic Diagnostics), which can only be accomplished through In Vitro pregnancies. So I'm happy to say that we have started down that road which is both exciting and scary. It is a long, difficult, financially and emotionally draining process, but so are children :o)! So stay tuned to the blog about more exciting stories about this!
J. Riley, I've got more dirt, but I gotta run!
- Museums. Museums, Museums, Museums! Normally, I find them to be mildly boring, even the ones in foreign lands that detail the deep history and mindset of the people across generations. I don't know why, but I get really tired in them after about an hour or two. But NOT in DC. Seriously, I know everyone says the Smithsonians are great and they are pretty well respected, but these places are tremendous. And they are all FREE! I have never been so captivated in history and so intrigued about everything as I was in the Smithsonians. They must have a massive crew of creative directors because you can't even put in words how amazing these museums are. The Air and Space Museum was okay (with it's nuclear missals and World War I and II era facts and stories), but the Natural History Museum, the American History Museum, and, most shockingly, the Native American Museums were spellbinding. Nobody ever cares about the Native Americans except for those of us who are genetically tribal (1/16 Cherokee in the house!), so to see so much time and space dedicated to a story that nobody ever hears about was surreal. We spent almost two days there.
- Generally speaking, the museum grub was decent enough, though outrageously expensive as expected. But the Native American Museums cafeteria was, again, a site to be seen. They had tribal-type food from all the different regions in the United States, plus a South American area where they actually served up authentic Peruvian grub. I could have chosen something better than the Indian tacos, but if I would have gone all "yogurt-shopping" on the place, I wouldn't have gotten out of there.
- On the other sign of the coin were the breakfast and dinner options. Seriously lacking. Like, criminally. I actually got stuck eating at McDonalds one day because nothing was open for breakfast near our hotel, other than the hotel buffet for a cool $16 a piece. Thank God that McDonalds is actually serving oatmeal with "fresh" fruit in it. I'll take two of those, thanks. The one day that we ate at the ritzy Kay Adams hotel (where the Obamas stayed, with a view of the White House across the street) that we stayed at with Sean and Roberta was horrendous. The service was so bad and everyone kept looking at Erika and I like we didn't belong there (because we didn't!). I guess if I had been wearing triple-pleated khakis with a Brooks Brother shirt while on vacation, I would have fit right in. I hope other guests tipped their waiters well, because I sure didn't. Dinner options near our hotel were also non-existent, so we stuck with large, late lunches and called it a day.
- We froze our asses off in DC. It was unusually cold for us there, especially to be out walking around taking in the WWII memorial, Lincoln memorial, Capitol building, and the Vietnam memorial. I sure would like to go down there during the cherry blossom festival when things are blooming, the grass is green, and it isn't 20 degrees not taking into account the 50mph winds (no joke). I tried to keep positive, but there were times when I almost thought about just giving up on life!
Speaking of that, Erika and I recently had a little appointment at the NYU Infertility Center with Dr. Alan Berkeley. Some of you know about this Myotonic Dystrophy that I've got. The fact that it is a genetic disorder means that any offspring of mine have a 50% chance of contracting it - and it could be a lot more serious in the next generation. The only way to get rid of it is by doing something called PGD (Pre-Implantation Genetic Diagnostics), which can only be accomplished through In Vitro pregnancies. So I'm happy to say that we have started down that road which is both exciting and scary. It is a long, difficult, financially and emotionally draining process, but so are children :o)! So stay tuned to the blog about more exciting stories about this!
J. Riley, I've got more dirt, but I gotta run!
Sunday, January 03, 2010
The Seven Days of (Post) Christmas
I've had some busy trips in my lifetime, but the last seven (eight, now) days have been a whirlwind!
Last week I was down in Peru for Christmas. Christmas is done a lot different down there, with the 24th actually being the day of celebration. Or night, rather. All of the events commence at midnight, starting with watching and launching fireworks from the roof of Erika's house. She has quite a view of the city form the top of her house and just about everyone in Lima is launching fireworks, so it was a crazy light show. Most of the fireworks weren't grandiose and massive like they are on the 4th of July, but the sheer number of people launching them made is impressive.
Following fireworks, we went downstairs and opened up presents and finished up with dinner. By the time we cracked and finished the bottles of celebratory champagne and finished off the plates and plates of turkey, applesauce, Arabic rice, fruit salad, and washed it down with hot chocolate, it was 3:00am! The four bottles of champagne did their job and I passed out really quickly at night!
The next day (the 25th) was a traditional ceviche lunch and several hours of napping :o). Overall, Peru was a pretty relaxing time with just two days that we spent out - one day getting dental work done (two cavities filled and one x-ray: $70), getting hair cuts/coloring (my first "real" hair-cut that was actually styled), and another day that involved Erika getting all of her beauty salon work taken care of while I went to a movie and watched some soccer in the dining area of the mall. Luckily, the films aren't dubbed in Peru, they use subtitles so it was no problem for me!
We took our usual red-eye flight back to New York on Monday night to conclude our short six day trip. The flight was alright except for all of the stupid rules they imposed on the passengers thanks to the retarded terrorist. I don't mind having my whole body fondled and all of my luggage getting searched before getting on the plane (again). But what was stupid was that the flight was freezing and I actually had to use two blankets to keep warm while I was sleeping. And they woke me up an HOUR before we actually landed and took our blankets away! And they wouldn't let us stand up to get sweaters out of the overhead compartment or go to the bathroom. What does that accomplish? Nothing, in my opinion. Turn up the heat and keep the f-in blankets and let me sleep! Then, they turned off the in-flight entertainment forty-five minutes before we landed. I wouldn't have cared if I was SLEEPING, but they had already done their best to wake us all up. If I wanted to blow up the plane with a bomb in my boxers, I still had the six hours of the flight to do it, not just when we are landing.
After leaving our sandals, shorts, and t-shirts behind in Peru, we landed and left the airport at 8:00am and were almost knocked over as soon as we stepped outside the airport. Probably 50mph winds and 18 degrees (that would be Fahrenheit) blasted us and it was a rude-awakening for us that we were back in NYC! The only benefit that I got from this was that I was AWAKE, REALLY AWAKE by the time we got home!
But the day was not done. Later in the afternoon, Sean and Roberta were getting married, and we were going to be the witnesses! It made sense since they actually met at my birthday after we had introduced them together. So Erika and I got dressed up for the City Hall and while we were waiting for them, I was actually thinking about it. I have no idea what a city hall wedding with Sean (the guy who started his own company and dressed in very expensive suits, had a one foot beard for about a year, and who liked to spend a lot of money) and Roberta (completely altnerative life-style Italian, artist, who wears no makeup) would be like. Would they show up in a Limo, a cab, or via subway? Would they dress up for the event in expensive clothes, completely casual, or with some funky outfit? It could have been anything. It turns out that Erika and I
overdressed for the occasion and they actually wore the same casual clothing that they wore when they met each-other!
The wedding went smoothly and quickly, and now I have one-less single friend! Yay! So, let the outrageous celebrations begin! We tried to go to Balthazar, one of the great French institutions of SoHO for dinner but their list was already full for the night. Sean and I went to buy some champagne and he spent $300 on two bottles of it - yikes! With Roberta being preggers, the three of us went ahead and drank a bottle of champagner at their house since it was FREEZING outside. Not having eaten anything all day, we decided to hold off on the second bottle and went to have dinner. Since they lived around the corner from Balthazar, they actually had a "secret" number to call and we got reservations for an hour later!
We had a fabulous dinner at Balthazar. Wow, what a meal it was. Being in a place like that makes you really feel like you're living the life, with the French wine recommender, the Northern African-French waiters at your beck-and-call, and drinking French bottles of wine from 1988. It was actually quite outrageous, but what the hell, it was Sean and Roberta's wedding and they knew had to live it up!
We had a great time together with them as we always do and the topic of New Years Eve came up. They were going to Washington DC to attend a New Years Party at one of Sean's client's house and invited us to go. The thought had crossed our minds briefly, but the money situation has been tight lately and I kind of decided we better not go, espsecially since the party's theme was "Leather and Lace" and I had neither. Then, they said we could stay at their hotel, which happened to be across the street from and with a view of the WHITE HOUSE (!!!) with them if we wanted and that H&M had leather goods for cheap and most of the museums and sites were free. At that point, it was ON!
The next day (the day before New Year's Eve), I got online and booked $42 round/trip tickets on MegaBus for Erika and I to DC. I couldn't believe that they weren't sold out, but having heard stories about some of these cheap buses, I was really nervous. MegaBus supposedly had nice buses, free in-route Wi-Fi and power supplies, so it sounded like it was worth a try. I also booked a 3.5 star hotel for $70 a night right on Hotwire.com around the corner from Sean's (since they were only staying two nights and we wanted to stay for the weekend).
The bus ride organizing was my worst nightmare. We got to the pick-up spot and there were probably 1000 people there waiting for different routes and the word from the people there was that everything was way behind schedule and that they had oversold the tickets earlier in the day. And it was FREEZING cold outside still. So we stood around and watched as buses took people away little by little until our bus finally arrived (about an hour late). We didn't really care if we'd arrive late, we just wanted to get on that bus because it was warm and we had a nice hotel waiting for us.
Well, to make a long story short(ish), we made it on the last bus! The ride was super easy, except that being on top of the double-decker luxury liner got us kind of woozy with the rocking motion from the terrible roads and the power sources weren't working at all. I was super psyched up for the trip though and it brought back memories from my 8th-grade spring break trip with the school, the last time I went to DC. I couldn't sleep I was so pumped up (and maybe from the two sips of coffee I had while waiting for the bus) so I so I went ballastic on my little notebook (in the dark):
"My head pressed firmly
against the artificial
substance
I ponder, like a 12 year-old
with his new luggage and
a deposit in place
Things, certainly they
have changed in 20
years, but somehow,
they are still the same.
1991 coaches had no power
source that threatened the
vitality of Google phones and
laptops. It had ideas, excitement
and a thirst for exploring
the agenda presented inside of it.
I'm Prepared,
like the agenda, but a chasm
now exists. Backpack, loaded
like the Christmas suitcase,
is the key to the weekend.
The memories still exist, though
this time there will be no
cool crowd nor mall lunch
specials."
J. Riley, next up: Washington DC highlights and lowlights!
Last week I was down in Peru for Christmas. Christmas is done a lot different down there, with the 24th actually being the day of celebration. Or night, rather. All of the events commence at midnight, starting with watching and launching fireworks from the roof of Erika's house. She has quite a view of the city form the top of her house and just about everyone in Lima is launching fireworks, so it was a crazy light show. Most of the fireworks weren't grandiose and massive like they are on the 4th of July, but the sheer number of people launching them made is impressive.
Following fireworks, we went downstairs and opened up presents and finished up with dinner. By the time we cracked and finished the bottles of celebratory champagne and finished off the plates and plates of turkey, applesauce, Arabic rice, fruit salad, and washed it down with hot chocolate, it was 3:00am! The four bottles of champagne did their job and I passed out really quickly at night!
The next day (the 25th) was a traditional ceviche lunch and several hours of napping :o). Overall, Peru was a pretty relaxing time with just two days that we spent out - one day getting dental work done (two cavities filled and one x-ray: $70), getting hair cuts/coloring (my first "real" hair-cut that was actually styled), and another day that involved Erika getting all of her beauty salon work taken care of while I went to a movie and watched some soccer in the dining area of the mall. Luckily, the films aren't dubbed in Peru, they use subtitles so it was no problem for me!
We took our usual red-eye flight back to New York on Monday night to conclude our short six day trip. The flight was alright except for all of the stupid rules they imposed on the passengers thanks to the retarded terrorist. I don't mind having my whole body fondled and all of my luggage getting searched before getting on the plane (again). But what was stupid was that the flight was freezing and I actually had to use two blankets to keep warm while I was sleeping. And they woke me up an HOUR before we actually landed and took our blankets away! And they wouldn't let us stand up to get sweaters out of the overhead compartment or go to the bathroom. What does that accomplish? Nothing, in my opinion. Turn up the heat and keep the f-in blankets and let me sleep! Then, they turned off the in-flight entertainment forty-five minutes before we landed. I wouldn't have cared if I was SLEEPING, but they had already done their best to wake us all up. If I wanted to blow up the plane with a bomb in my boxers, I still had the six hours of the flight to do it, not just when we are landing.
After leaving our sandals, shorts, and t-shirts behind in Peru, we landed and left the airport at 8:00am and were almost knocked over as soon as we stepped outside the airport. Probably 50mph winds and 18 degrees (that would be Fahrenheit) blasted us and it was a rude-awakening for us that we were back in NYC! The only benefit that I got from this was that I was AWAKE, REALLY AWAKE by the time we got home!
But the day was not done. Later in the afternoon, Sean and Roberta were getting married, and we were going to be the witnesses! It made sense since they actually met at my birthday after we had introduced them together. So Erika and I got dressed up for the City Hall and while we were waiting for them, I was actually thinking about it. I have no idea what a city hall wedding with Sean (the guy who started his own company and dressed in very expensive suits, had a one foot beard for about a year, and who liked to spend a lot of money) and Roberta (completely altnerative life-style Italian, artist, who wears no makeup) would be like. Would they show up in a Limo, a cab, or via subway? Would they dress up for the event in expensive clothes, completely casual, or with some funky outfit? It could have been anything. It turns out that Erika and I
overdressed for the occasion and they actually wore the same casual clothing that they wore when they met each-other!
The wedding went smoothly and quickly, and now I have one-less single friend! Yay! So, let the outrageous celebrations begin! We tried to go to Balthazar, one of the great French institutions of SoHO for dinner but their list was already full for the night. Sean and I went to buy some champagne and he spent $300 on two bottles of it - yikes! With Roberta being preggers, the three of us went ahead and drank a bottle of champagner at their house since it was FREEZING outside. Not having eaten anything all day, we decided to hold off on the second bottle and went to have dinner. Since they lived around the corner from Balthazar, they actually had a "secret" number to call and we got reservations for an hour later!
We had a fabulous dinner at Balthazar. Wow, what a meal it was. Being in a place like that makes you really feel like you're living the life, with the French wine recommender, the Northern African-French waiters at your beck-and-call, and drinking French bottles of wine from 1988. It was actually quite outrageous, but what the hell, it was Sean and Roberta's wedding and they knew had to live it up!
We had a great time together with them as we always do and the topic of New Years Eve came up. They were going to Washington DC to attend a New Years Party at one of Sean's client's house and invited us to go. The thought had crossed our minds briefly, but the money situation has been tight lately and I kind of decided we better not go, espsecially since the party's theme was "Leather and Lace" and I had neither. Then, they said we could stay at their hotel, which happened to be across the street from and with a view of the WHITE HOUSE (!!!) with them if we wanted and that H&M had leather goods for cheap and most of the museums and sites were free. At that point, it was ON!
The next day (the day before New Year's Eve), I got online and booked $42 round/trip tickets on MegaBus for Erika and I to DC. I couldn't believe that they weren't sold out, but having heard stories about some of these cheap buses, I was really nervous. MegaBus supposedly had nice buses, free in-route Wi-Fi and power supplies, so it sounded like it was worth a try. I also booked a 3.5 star hotel for $70 a night right on Hotwire.com around the corner from Sean's (since they were only staying two nights and we wanted to stay for the weekend).
The bus ride organizing was my worst nightmare. We got to the pick-up spot and there were probably 1000 people there waiting for different routes and the word from the people there was that everything was way behind schedule and that they had oversold the tickets earlier in the day. And it was FREEZING cold outside still. So we stood around and watched as buses took people away little by little until our bus finally arrived (about an hour late). We didn't really care if we'd arrive late, we just wanted to get on that bus because it was warm and we had a nice hotel waiting for us.
Well, to make a long story short(ish), we made it on the last bus! The ride was super easy, except that being on top of the double-decker luxury liner got us kind of woozy with the rocking motion from the terrible roads and the power sources weren't working at all. I was super psyched up for the trip though and it brought back memories from my 8th-grade spring break trip with the school, the last time I went to DC. I couldn't sleep I was so pumped up (and maybe from the two sips of coffee I had while waiting for the bus) so I so I went ballastic on my little notebook (in the dark):
"My head pressed firmly
against the artificial
substance
I ponder, like a 12 year-old
with his new luggage and
a deposit in place
Things, certainly they
have changed in 20
years, but somehow,
they are still the same.
1991 coaches had no power
source that threatened the
vitality of Google phones and
laptops. It had ideas, excitement
and a thirst for exploring
the agenda presented inside of it.
I'm Prepared,
like the agenda, but a chasm
now exists. Backpack, loaded
like the Christmas suitcase,
is the key to the weekend.
The memories still exist, though
this time there will be no
cool crowd nor mall lunch
specials."
J. Riley, next up: Washington DC highlights and lowlights!
Saturday, January 02, 2010
Never thought i would have
Never thought i would have to resort to eating at mcd's for breakfast in dc! Nothing is open!
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