My son recently spent a month at Mayo Eugenio Litta Children's Hospital to stabilize his bp and lower his heart rate before they could take out his 3 pheos and both adrenals. During this time he was tested for VHL and while he has a mutation they are telling us it isn't/hasn't been linked to VHL but are still thinking that way. All other tests, scans, etc. show him to be completely tumor free at this time. We have follow up visits with geneticists from Mayo to find an answer. I was wondering how long we can expect to live with this uncertainty before a diagnosis.
We noticed one leg to be slightly atrophied and went to the doctor today. We are now also seeing a pediatric orthopedic specialist to determine the next step with that. Is it common for VHL to make one limb shorter and weaker than another? The atrophy was present prior to the surgery however was not as pronounced before surgery. He just was cleared to start running the other day so we chalked it up to belly soreness, however upon further inspection the atrophy got worse since surgery. Any comments or insight would be extremely helpful.
Are world has been turned upside down and while we are so happy to have our son at home happy, healthy, and raising cain with his little brother we are also very scared of where this might lead us.
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VHL???Maybe???
- By Porq
- Posted July 1, 2009 at 12:46 am · 7 replies
- In Getting a diagnosis
- Shared with the public
7 replies
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- By TinaDiane
- Posted July 1, 2009 at 5:12 am
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It is my understanding that it can take 4-6 weeks, here in the States, to get the DNA testing back. I took me about 6-8 weeks, and I live in Oregon. I have never heard about VHL causing one limb to be a different length.
The VHL handbook available a VHL Family Alliance is a wonderful reference book.
Best of Health to us all,
Tina
- By mkj
- Posted July 1, 2009 at 9:32 am
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We have had our son tested twice for VHL and both tests came back negative. We also took our son to the Mayo Clinic for evaluation and a second opinion. One of the doctors that we met was Dr. Lindor. Dr. Lindor is a geneticist at the Mayo Clinic. She explained that one of the possible explanations for VHL symptoms despite a negative test result is something called a mosaic mutation. I will be interested to find out if you get an opportunity to meet with Dr. Lindor and what her impressions are in your case.
I understand how you feel, as our world was turned upside down as well. Fortunately, our son, who is now twenty-one, has handled his situation much better than anyone could possibly imagine. I think about my son's condition all the time and try to imagine what the future will hold for him. But because of his courageous attitude, I try to keep up the same positive attitude that he has whenever I am around him. I know it would bother him if he knew his condition was eating at me all the time.
How old is your son? If he is not very old, you will need to be a rock for him. Enjoy every minute that you can with him, don't be a Debbie Downer. It has now been six years since our son's first surgery and we have shared many happy times with him since then. Learn all you can about your son's illness, but for his sake, do not let it take you down to the depths of despair. Stay strong, stay positive, love him, and let him love life.
- By Porq
- Posted July 1, 2009 at 10:12 pm
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Our sons test was back in 3 weeks from Mayo and ours was supposed to take 2 weeks because they know what they are looking for. I think the doctors are just waiting until we come back in August but the waiting hurts worse than knowing.
- By Porq
- Posted July 1, 2009 at 10:21 pm
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Our son is 4 years old and is very brave. We are pretty good at treating him normal and not showing any negativity towards whatever he has. Dr. Lindor is not on our "team" at this time. Our geneticist is the head of the department because our first one rubbed us the wrong way. He seemed to have some sort of satan complex. Imagine that a doctor who thinks they know it all and has no bedside manner whatsoever. Mayo has been great.
I know this is down the road for us but it is or will be a concern when he is an adult, so I will ask you this question. Will your son be able to get insurance on his own? My wife and I are in the early stages of our career and are concerned about her ever switching jobs since she carries the insurance. She is in health care and will have the opportunity to become a professor in a couple of years. She has seen where insurance companies do not insure people with pre-existing conditions even though it is against the law.
What was your sons first surgery? How is he doing today? What regime of tests is he on to keep on top of new tumors? These are all questions we have but have been afraid to ask them until we know it is VHL for sure.
Our doctors have indicated that even if VHL, he might have a type that only affects the adrenals, and now that they are gone he might not ever have another VHL related tumor. The research I have done says this is a possibility, what do you think. Sorry for all of the questions. We just don't have anyone else to talk to. Thanks
- By mkj
- Posted July 2, 2009 at 9:05 am
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Interesting comment by your medical team, speculating that the tumors might only have been adrenal specific. Our son's hemangioblastomas have only shown up in his central nervous system. I asked Dr. Lindor, when she was describing mosaic mutation, if only one cell in sixteen had been affected during early cell division, would it be possible that that particular cell may have given rise to his CNS. She said that could be possible and that all of his tumors might be specific to that system. Key word there being "might".
Our son has had five surgeries. The first one was at age fifteen on the cerebellum. The second was in exactly the same spot at age nineteen. The third six months later was on the spine, the fourth six months after that was also on the spine (two different spots), and the fifth six months after that was also on the spine. He lost 60% of his hearing in his right ear after the first surgery. He was a pretty gifted athlete and was still able to play baseball and basketball after the first surgery, but not football. After the second surgery, he had constant tailbone pain and was only able to play golf as jogging was too uncomfortable. After his last surgery, he lost some motor control in his left leg and quite a bit of his sense of touch in his right leg.
His tumors are now so widely spread in his central nervous system that we are moving on to the next stage. He needs to have surgery next week to remove an extremely large HB from his spine. A month after that he will begin drug therapy with Avastin in an attempt to slow the growth of several fast growing tumors. If they are not responding to the Avastin, our team of doctors suggests spot treatment with radiation.
As I mentioned, we took him to the Mayo Clinic two years ago. Two weeks ago we took him to the MD Anderson Cancer Clinic in Houston. The doctors down in Houston pretty much put together this course of action. You need to set up a plan of action that is comfortable for you, but comprehensive in scope. We were ready to start radiation first, but his condition is so widely spread that we would quickly reach the lifetime limit for radiation. Hopefully, the Avastin will be more comprehensive and reach all the tumors and have a stunting effect on them. There is however, no guarantee that it will work.
Through this all, our son has been stoic and goes from one procedure to the next waiting to get on with the next stage of his life, living it to the fullest possible extent that he can. He has MRIs about every three months to monitor the growth of his tumors. Every year he gets an ultrasound of his abdomen to make sure his kidneys, adrenals, liver, and pancreas are clear. He also has an annual eye exam to check his retinas.
Our insurance is through my wife, who is a public school teacher. He can stay on it as long as he is enrolled in college. I have not thoroughly read the policy, but I suspect there is a "cap" on benefits at some point. I am a retired teacher and many of the people in my family are also teachers. Our son wishes to be a teacher as well. Needless to say, his many surgeries have made it difficult to complete his degree. Hopefully, he will be able to finish his degree in a couple of years and can become employed by a public school with group insurance.
As it stands right now in Nebraska, the entire group is covered without exceptions for pre-existing conditions.
A lot of my friends and relatives are opposed to public health insurance (primarily because they have good private insurance). I always tell them, where you stand is where you sit. In our case, we really need guaranteed insurability for our son. Although many private insurers make it sound like they would be willing to include all people, I doubt they would touch our son with a ten foot pole. Hopefully, with the removal of your son's adrenal glands, you will be finished with your own personal nightmare. If not, you are sitting with me and will have to decide whether you favor a public health plan or not.
Best wishes on "The Long and Winding Road".
- By joyceg98
- Posted July 3, 2009 at 1:54 pm
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Hi, Porq. I'm glad you are getting good treatment advice for your son, and that he is doing well following his surgery.
You mention: "while he has a mutation they are telling us it isn't/hasn't been linked to VHL but are still thinking that way." So if I am reading correctly between the lines, they did find a change in his VHL gene. "Not linked to VHL" might mean that it is not one of the ones listed in the VHL Mutation Database (see http://vhl.org/research). That list is not definitive. It grows all the time. Its intention was to collect the various mutations reported in one place so that the researchers can see the trends. There are "hot spots" along the gene, places where there are lots of affected families, and there are a number of "loners" -- the project in Brazil, for example, with about 80 identified families, added 40 new sites to the map.
Certainly with any change in the VHL gene, and three pheos in two adrenals at age 4, we have to believe that he has VHL. While pheos do occur in the general population, there are three pointers to a genetic cause: multiple tumors, both sides, and youth. When any one of these three is true, we have to suspect there is a genetic promoter at work.
The distinction the doctor is stating is really an academic one. There are some kinds of changes in the gene (for example, a change in some of the DNA between the exons) which previously they thought could not cause the condition VHL because that material was thought to be "junk DNA" that did not really have a function. However we not know several people whose only change in the gene is between the exons, and they have full-blown VHL. They are learning a new appreciation for "junk DNA". It all has a function -- we may not yet understand it. As Dr. Francis Collins says of the Human Genome Project, we now know how to spell it, but we are only scratching the surface of understanding what it means.
Certainly I would want to do the full screening protocol as outlined in the Handbook, to make sure that if he should have another problem, we would find it early and be able to treat it successfully.
Be sure to make contact with the VHL Clinical Care Center at Mayo, be speaking with the clinic coordinator listed at http://www.vhl.org/aboutvhlfa/clinics2.php
Minnesota: Mayo Clinic, Rochester, MN. Mary Kelly, Clinic coordinator, +1 (507) 284-8198; Fax: 507-284-0161. Mayo's Neurosurgery department website is http://www.mayoclinic.org/neurosurgery-rst/index.html
Mary maintains a list of the physicians within Mayo who are most familiar with VHL. They may already have connected you with Mary, but it's worth a call. She might be able to refer you to a pediatrician there who will help to manage his care.
Sorry you had a bad experience with a doctor with a poor attitude. Doctors are human -- you did the right thing in requesting a change.
There are at least two other mothers who participate in this list with young children who have had multiple pheos. It might be interesting to compare DNA reports to see if their genetic changes are in similar locations.
Best wishes,
Joyce
- By oliveoil79
- Posted July 18, 2009 at 10:51 am
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I too see Dr Lindor @ Mayo and she is great, she found that I am the 4th person in the world knwn to have my type of VHL. Good luck!
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