Just a few fun videos from our Flip Video!

Closing one chapter.... another one opens

Hi everyone! Here is the latest in our medical drama. I'll try to sum it up as best as possible.

For the past few months, we've been undergoing genetic testing for Joli's retinoblastoma. Unfortunately, her tumor was destroyed a few years ago, and the only way to test for her was through blood (not as reliable, but it's all we have to go with). We submitted blood samples back in September '08 and met with the geneticist in November '08. I knew something was up as soon as we got in the room with him. He began by saying, "Unfortunately, the test for Rb hasn't come back yet." So, I'm thinking, "Uh, okay, so why are we here?" The doctor then said that he had some preliminary bad news -- that, randomly, Joli's blood was selected as part of a research sample to test for another genetic mutation called von Hippel-Lindau (VHL). The test came back positive, that Joli has the genetic mutation for VHL.

The geneticist and I agreed that we'd re-send the blood to be tested JUST for VHL -- so, not as part of a random study, but rather as an intentional test for the mutation.

So, we returned to the geneticist yesterday. He said the GOOD NEWS is that Joli's retinoblastoma was simply by "chance" - that is, in her original germ cells, there is less than a 1% chance that Rb started genetically. Rather, it was at some point when her cells were dividing that her retinal cells mutated somehow and Rb was created. That's great news. IF we were to stop the story there, that would mean that neither Jada nor the new baby would need any more Rb screening. It means that they would have just as unlikely a chance of having Rb as any of the general population (which is so rare to have Rb). It means my affair with Mass General Hospital could come to an end - sort of.

The geneticist was kind enough to let me enjoy that moment for 5 seconds, which is what he actually said, "Enjoy this moment for about 5 seconds.....". Happy, Happy, Joy, Joy! No more retinal exams! No retinal exams for the baby and for Jada! Woo hoooo!!!

"Unfortunately, Joli is confirmed to have the genetic mutation for VHL."

So, what does that mean?

Unfortunately, one of the early signs of VHL is... wait for it.... RETINAL TUMORS! So, my brief fantasy about not having to go to MEEI or MGH was over. We have to go back again -- and, the great irony is that we have to go MORE OFTEN than we were scheduled to go when she had Rb!

So, what is VHL -- there is a whole lot of information out there, but I'll try and sum it up in the easiest terms possible.

VHL is a dominant genetic mutation. Not related to Rb. Not related to BRCA. Yup, it's a totally separate genetic mutation.

Now that we know Joli has it, imagine Joli carrying a suitcase that is called VHL. Inside that suitcase are things like, "retinal tumors, brain tumors, angiomas, renal cancer, paralysis, spinal cord issues, headaches, hearing loss". She'll carry this suitcase for the rest of her life. Throughout her life, the suitcase could open. "Joli's body" will reach into the suitcase and pull something out. Sometimes her body will pull out 1 thing; sometimes her body will pull out a few things. There is no timeline for when the suitcase will open - it could open tomorrow; it could open when she's 90 years old. It can also open-close-open-close-open-close all through her life (which is more likely).

The great thing about genetic testing -- especially at age 5 --- is that we now have a "net" around the suitcase. So, before any of those things fall on the ground, we have a little net that will hopefully catch it before it hits the ground.

So, Joli will have regular screening for all of these things for the rest of her life (hence, the fact that we'll still feel like the hospital is our second home!). With this early genetic diagnosis, we can find retinal tumors before they get too large, we'll know about any changes in her kidneys before she develops renal cancer, we'll know to treat "just a headache" as a medical issue.

The next step that we are pursuing is to find out if her VHL was passed on by one of us. In 80% of VHL cases, a parent passed it on. As of today, Jorge and I will have both given blood for testing. If one of us is genetically confirmed, that has implications for both that side of the family as well as for Jada and Baby #3. If one of us is positive, Jada and Baby #3 have a 50% chance of also being VHL positive. If NEITHER Jorge nor I have VHL, then there are no implications for Jada and Baby #3 -- it'll be just Joli's bag to carry. We should find out those results in a few months.

In terms of the Rb, the retina specialist does want to see Baby #3 at 6 weeks, and then likely we won't have to do anything after that since the hereditary risk is so low.

This is the brave face blog going up here, of course. I can't even begin to tell you how much we think this "stinks" (insert multiple words here....). Yes, yes, through all of the mess we've had to go through, we know that "That which doesn't kill you makes you stronger", but for now, we're pretty tired of hearing bad news. Let us wallow in this for a few days.

I hope this serves as a reminder to folks to count your blessings, know that others have it worse in this world, and be thankful for every day of good health you have. Yes, I realize how bitter that sounds right now, and I know that Jorge and I are just so tired of hearing this type of news.

Please continue to keep Joli on your prayer lists or whatever you may do.

Thanks!

Those Darn Tomatoes...

So, quick post to update folks who weren't getting the play-by-play on Facebook.

At lunchtime, went to the dining hall (as always) starving for the latest in college dining. Loaded up my tray with macaroni and cheese, chicken tenders, and yes, a salad. On my way to get a large drink (thank God I didn't make it that far), I slipped on food that some numbskull had dropped but didn't pick up. So, I do my best John Travolta and end up in a disco split in the middle of the cafeteria. Thankfully, I didn't drop my tray.

But, alas, I felt lots of pulling and pain, so I crawled onto my hands and knees, and felt a hand pull me up. Yes, friends, it was Patty -- the dessert lady. I see her every day. She is my saving grace at the end of a good meal with her selection of brownies, cookies, cakes, rice krispie treats, etc...!

Apparently, Patty saw the whole thing and came running. Next thing I know, I'm standing up, grabbing my belly and saying I have to go to the bathroom. It's all kind of a blur, but I end up in there with a few of my friends, Campus Police shows up, and I'm soon being strapped to a stretcher and taken to the local emergency room to get checked out.

All in all, it was an eventful afternoon, filled with TMI from the other patients in the emergency room with me (stories of diarrea, hearing a catheter being removed, etc). A few hours later, Jorge arrives and he convinces me to remove my vital signs monitors and put them on him, and we wait and play the "how low can you get your heart rate?" game while waiting to be seen. I eventually end up in the Labor and Delivery floor where they search and search for a heart beat (yes, they found one.. never thought it would actually be that HARD to find!).

Baby and I are okay. I'm sore. Pelvic and back and groin sore. But, all in all doing fine.

Damn tomatoes.

February is flying by!

Happy 40th Anniversary Lolo and Lola!
Lolo and Lola celebrated their 40th anniversary today! Naturally, we all went out for dim sum and filled our bellies. Then, Lola and Lolo took out Mia and Joli for a nice shopping trip where they got plenty of "bling", matching clothes, and toys. (much to my dismay....). Happy Anniversary!!

We've been busy at the house trying to get ready -- the girls and I have been inspired by the show "Clean House" where they get rid of all the excess stuff in their houses. The girls LOVE the show and it's been helpful as we've donated barrels of toys and clothes!

It's hard to believe how quickly February has come and is almost gone. I was looking back at some pictures to post and realize we just didn't take that many. We did take a good amount of video with our new Flip video, though, so I'll try to get some of those posted soon.

Pregnancy: Whew - as of today, I'm more than 34 weeks. Egads. Joli was born at 35 weeks; Jada at 37. So, it's starting to really come up upon us now! The room is almost totally set up, clothes and blankets are already washed, hospital bag is packed, and it's just waiting now. Work has been really busy, and I actually am pretty sick right now, but we're all excited for baby to come! Bets are still being taken for boy/girl and day of birth! Here are some much over due pictures of my 34 week belly -- I AM HUGE!!




Joli has wrapped up most of her speaking engagements this semester. Here she is just after one of the cancer classes we taught - I think she looks like a NATURAL at the teacher's desk!



More later, I'm sure! Stay tuned... next few posts could include a baby announcement! :)

This past weekend, the girls and Jorge went to NYC and I had some time to catch up on house projects (getting the baby clothes down from the attic, cleaning out the basement, fixing lights/ceiling panels, etc). While it was nice to get some solid work done this weekend, I missed my nutty family like crazy!

Here are some cute pictures courtesy of Pops and Jorge!

Making meatballs with Grammy

After church with Grammy and Pops


At church

Getting ready for bed!

Of course, the girls got home, jumped into my bed, and buried themselves under the blankets, leaving poor Daddy to sleep in the girls' room! Grammy and Pops are coming up here in a few weeks to help us get ready for baby, so we are so excited!

Great few weeks!

Naturally, it's been an exciting few weeks in our house!

I'm not sure exactly what the heck Jada is doing in this picture, but here she is in her own picked-out outfit. Yup, and striking the typical Jada pose...




The end of January marked my 30th week of pregancy. Joli was born at 35 weeks; Jada at 37 1/2. So, I'm guessing to go anytime between then, possibly! It's a whole different feeling knowing this will be my past pregnancy. I've been feeling much better the past few days - no back pain, no pelvic pain - and have really had a week to enjoy just being pregnant. I find myself sad at times when I feel the baby move, simply because I know I won't have this feeling again (probably going to have my oopherectomy within a few months of baby being born). But, I'm filled with joy and excitement knowing that the baby is moving around and growing stronger each day!



Our family celebrated Chinese New Year (in honor of our distant heritage) with Dim Sum. Wait, who are we kidding? We go nearly every Sunday! But, this time, we did teach the girls all about Chinese New Year. So, happy Year of the Ox!







There perhaps hasn't been a more exciting day than the day that President Barack H. Obama was sworn to take office. We celebrated by having orange juice in fancy glasses... The girls were thrilled!


Joli lost her SECOND tooth today! It was quite an ordeal. I believed in the practice that SHE should take it out by herself. Long gone are the days of tying floss to a door or tricking children; we are big believers in having them take ownership over their own bodies. So, Joli got to wiggle around the tooth. It was barely hanging on tonight, so I simply put a string of floss around the tooth to avoid losing it in case it fell out. Joli went to the livingroom to watch tv, and before we knew it, she was shouting, "It's out! It's OUT!" Apparently, she was laying on the floor, went to get up, and accidently stepped on the string! Hurray for Jo Jo!