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Just to let you know that VHL was mentioned on the ABC show, Private Practice last night. It had to do with preimplantation genetic testing of embryos with dwarfism. The doctor wouldn't implant becuase the tests also showed that 2 of the embryos had VHL. The show said that 40% of people with VHL will have cancer in their 20's. It didnt' mention that one of the parents had to have it also.
I'm sad that I missed that episode! Hope it's on the computer pretty soon!
Two weeks ago on Grey's Anatomy, the big story for the episode was Dr. Shepherd trying to remove a hemangioblastoma from a man's spinal cord. It was wrapped all over the place and miraculously the tumor was removed and the man had no pain and no deficits! He was immediately talking and acting 'normal' right out of the OR (as if!! we're all drowsy and in lots of pain coming out of the OR). Anyhow, it was an interesting episode. Too bad doctors in real life can't perform all the miracles on TV, but honestly I've had a few come close. Dr. Libutti and Dr. Oldfield have saved my bacon on several occasions when I thought the outcome would be worse. VHL wasn't mentioned in the episode, but it was cool to see a hemangioblastoma removed. Every once in awhile pheos and whipples come up too.
I saw that episode of Grey's! I always am amazed how everyone comes out of surgery with no tubes and ready to talk. I was happy in that episode because my son who has VHL was watching it with me. He hasn't had any surgery yet & I was able to use the hemangioblastoma story to explain why it is so important to get regular check ups before things get out of control. At 15, he would rather not be bothered.
I never had the pleasure of meeting Dr. Oldfield but I was a patient of Dr. Libutti at NIH and he is great.. I heard some fantastic things about Oldfield. These guys are my heroes. You can forget sports stars and other celebrities. It's these types of doctors that really make a difference for everyone.
Emily
Oldfield is terrific, and is now at the University of Virginia, working primarily on pituitary research.
The team he trained and left behind at NIH continues to be excellent. Dr. Lonser is the chief of surgery at NINDS now, and everyone I have met from his team is top-notch as well. Lonser headed the research effort that led us to good information about ELST's and how to deal with them.
Best wishes,
Joyce
Oldfield is terrific, and is now at the University of Virginia, working primarily on pituitary research.
The team he trained and left behind at NIH continues to be excellent. Dr. Lonser is the chief of surgery at NINDS now, and everyone I have met from his team is top-notch as well. Lonser headed the research effort that led us to good information about ELST's and how to deal with them.
Best wishes,
Joyce
One of the genetic counselors sent me a message about Private Practice, and I was able to catch it in the hotel on Just Missed TV. I didn't think much of the script. That statistic is misleading -- only right if you understand it to mean that by age 20+ about 40% of people with VHL will have at least one kidney tumor visible on a scan -- still a very manageable "cancer" if you are watchful and taking care of things.
I also thought the use of VHL in his plot was weakest because of the lack of any mention of which parent had VHL and to what extent? If VHL was indeed an element in the genetics, it was also a health issue for one of those parents.
Maybe we should have an agent in the industry worrying about "product placement" -- like the agents who work to get a particular brand of computer visible in the movies. Any ideas or contacts?
Thanks,
Joyce
Emily, I'm with you. These doctors are my heros. My Dad is my hero. He battled VHL valiently and even though he died nearly a year ago, he has left me with an example of how to life a life of love, faith, hope, positivity, optimism, humor, and giving to others, despite living with VHL.
Joyce, Dr. Lonser is another brilliant doctor, I agree. He was the one that worked so very hard to keep my Dad alive. The first time I went to NIH after Dad died, last March, Dr. Lonser made it a point to come talk with me about my Dad and ask if I had any questions. I was in tears and he was very compassionate (not normal for neurosurgeons!!). I also have to give props to Dr. Pluta at NINDS; he's treated me for year and years and he is a great doctor, also with compassion. He was the one that regularly gave my husband updates on my Dad's condition. There are some truly fantastic doctors, and like Emily said, forget the movie stars and sports figures, these guys are the ones making a REAL difference in the world.
I am a bit confused by this topic.
Please forgive my questions, but I am also quite curious. I saw the episode, and they suggested that VHL and dwarf genes were inherited dependently (you get one, you get the other). Is that correct? I thought two separate conditions yielded two separate sets of probabilities for each condition. If the parents have either, then sure there is a possibility that the child would have both, but is it safe to say that the child would DEFINITELY have both?
Any clarifications would be greatly appreciated!
No, that is not correct. A defect in the VHL gene will give you VHL not dwarfism or vice versa. I think that the show said meant that the 2 embryos that had the dwarfism gene also had the VHL gene. The embryos that weren't dwarf, didnt' have the VHL defect. They are mutally exclusive. Hope this clears it up for you.
Emily
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