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!