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Hello to the VHLFA family!
I wanted to write and share a couple of things with you. My family and I are fairly new to the wonderful group of people in the Von Hippel-Lindau Family Alliance. My daughter Kortney who is now 17, was diagnosed with VHL in January of 2004.
It first started when she was 14. Although we didn’t know at the time it was VHL, much less ever heard of VHL, she began to see what she called a “small black dot” out of her right eye. Once we took her for an eye exam with just our regular eye doctor, things went like wildfire from there!
But before I begin with our story, I’d like to inform you all of a couple of small, but meaningful things I have found to help inform family and friends about VHL and the VHL Family Alliance.
Of course, you can add or delete anything else you want. I have had lots of positive comments on it, and it does encourage people to go and investigate. I also change the color to pink, to make it more catchy, and put it in italics and bold as well.
The other thing that I came across, was what they call a CarePage. I found it on the internet, when Kortney was getting ready to have surgery this past November. It can be found at www.carepages.com. This is a wonderful site where you can invite people to go to, and keep updated on you or your loved one’s condition. The creator of the page, or anyone you designate, can update the page. You can upload pictures of your own into the page, give them information on the patients surgery, hospital information, contact information, and just about anything you want! It truly is a wonderful idea and we use it anytime my daughter has any new news, or is going in for any surgery. You have to check it out! It is a very user friendly website. [See note below.]
Since we were informed of Kortney’s condition, which was about three years ago, many things have moved very quickly. The black spot I mentioned in the beginning of this article, of course turned out to be a retinal hemangioma. It took us two years to actually find a good retinal specialist who could determine what was going on. We spent the first two years going to other doctors who simply did not know what it was or what was causing the complications with her vision, and of course, the condition was continuing to get worse.
The retinal specialist tried many things to help her vision, including laser surgery four times, and two steroid shots into her eye to dry up the fluids that the tumor was leaking. All that we were able to do was stop the tumor from growing for awhile.
Her vision in her right eye was already down to, at the best, 20/400. That’s what they call “finger count vision.“ The retinal specialist sent us for a second opinion to Will’s Eye Hospital in Philadelphia, Pennsylvania. We saw two very excellent doctors out there, a husband and wife team, who basically said that what our specialist was doing was the best anyone could do, and also agreed with him that she should be DNA tested for VHL.
That was our next step. And indeed she tested positive. We then had myself, her sister, and her father tested, all of whose results came back negative. Hence, Kortney was a new mutation. About two days before we got her DNA results back, she became ill with very bad pains in her stomach area. This turned out to be two cysts, one on her ovary, and one on her fallopian tube. We thought this was just coincidence, as we didn’t have the DNA results back yet. Now that we know she has VHL, these were likely APMO’s. But since we didn’t know yet about the VHL results, the cysts they removed were not sent into the Tissue bank.
Not too long after all this, Kortney had a fainting spell, which caused us to take her to the emergency room by orders of her pediatrician. He is an excellent doctor, but also one who has never heard of VHL. We are finding this a lot! At the emergency room that day, they ran MRI’s on her brain and cerebellum area, and found two very small tumors there, neither of which was large enough to worry about at this time. I could see then that we were on the way to a new lifestyle, many doctor appointments, and even hospital stays, and all the testing that would now be a part of the life of this very spunky 17-year-old young adult, who is never still!
From there, we underwent all the tests that come along with the routine testing in a VHL patient. Blood work and urine tests were coming back with levels that were abnormal. By this time, it was summer 2004. After MRI’s, blood work, three different 24-hour urine collections, and an MIBG, it was determined that she also now had a pheochromocytoma on her left adrenal gland. It was large enough that they wanted to remove it. This we did in November of 2004. She had a partial adrenalectomy. This pheo was the likely cause of the fainting episode.
She came through the surgery like a trooper. And it hasn’t slowed her down, not one step!!!! She continues to be very active, and is involved in just about everything she can! She enjoys school now more than ever, tries harder than she ever did, and has a great attitude about having VHL. Her school has also been wonderful and has done many things to assist her with her vision problems. They have been more than accommodating when she misses school work due to the many doctor appointments, surgeries, etc.
When I ask her about her VHL, and why she doesn’t seem concerned, she just says, “I’m not worried, Mom. I know you are taking care of things right now for me!” I guess for now, this is OK with me. I don’t want VHL to slow Kortney down, or burden her. I want her to continue to enjoy her young adulthood for as long as she can without worry. She is doing well enough at this point, that there is no need to have it any other way! In fact, she takes this much better than I do! Sometimes it can be very trying for me.
The eye specialist thinks that her retinal hemangioma may be trying to become active again. But we have all the faith in the world in this man, and know we can trust him to do his best. Finding a doctor you can trust, and being able to rely on them, is half the struggle sometimes. Especially with VHL. Because so many doctors have not heard of this, let alone know what to do, you need to find one that is informed of VHL. It takes work to find the right doctor, and to develop a good working partnership and level of trust.
I was very proud when Kortney took the initiative to help me make posters and distribute donation cans to her school and other local businesses to collect money to help fight VHL. She took pride in sending these monies to the VHLFA.
Three years ago, no one in this family had ever heard of von Hippel-Lindau. Now it’s a major part of our life with Kortney, and will always be. But with the help of the Von Hippel-Lindau Family Alliance, the newsletters, the Handbook, and the very many wonderful people I have met through the VHLFA, I have faith someone will always be there for us. That’s a very comforting thought. Thanks to all of you I have come in contact with to date, and all of you I will meet in the future. You are all very special people. I hope that this information I have shared with you will help you in some way. — Sharon, Kortney, family, and friends.
Editor’s note: www.carepages.com is an ethical commercial venture offering custom branded CarePages services to hospitals in addition to this public site. The web service is funded through advertising. As with any such offering, you should begin by reading its Privacy policy, and then read very carefully the full user agreement, and any of those pesky pop-up boxes that ask your permission. Take care to give your permission thoughtfully, not blindly. In order to earn money from advertisers, they will need to collect certain information from you. You have a right to know what information they are keeping, what they intend to do with it, and just how public or private your pages will be.
In some cases, they give you a web location with a cryptic name, and assume that you are giving that name only to the people you want to share it with. While the chance that someone would guess your URL is remote, people do “random dial” and could stumble on your page. Password protection offers greater security.
You want to make sure that any such service you use is going to protect your name, address, and other information. You do not want to find your loved one’s name and medical history searchable with a web search engine! There is an internet phenomenon known as a “blog” or “weblog”, a kind of personal diary on the internet. Be very careful with these, as your information may become public property.
As printed in the VHL Family Forum 13:1, April 2005. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org. mystory |
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