Nine of my family have V H L my monther is the oldest and my daughter is the youngest. I appear to be finding that getting the appropriate screening for her is a constant up hill battle. She is ten years old and only has her annual eye screening. The genetic department wont do a 24hr urine sample as they say it is not necessary however i have to travle 25 miles to the childrens hospital for her to do a fresh urine sample then hand the sample to the nurse to get it sent to the labs. My daughters genetic consultant has not seen her at all he was not even present for the dna results which confirmed she has V H L. I am worried about my daughter at the moment as symptoms like i have with the cysts on my pancreas are now becoming apparent in her. She does not even get checked over and her blood pressure only gets checked when i attend the pediatric unit for other issues that she has. Genetics have basicly sliped up and mentioned that funding has a part to play in her not getting the appropriate screening and as she is a child my genetic doctors wont see her until she is thirteen. Can any one shed light on what the appropriate screening in the united kigdom is for a chil her age. I would be gratefull if someone could help shed light on this for me as i am constantly at logger heads with the genetic department.
Thank you Karen
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childhood screening protocol
- By davidw
- Posted March 6, 2008 at 3:53 pm · 4 replies
- In Kids and teens
- Shared with the public
4 replies
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- By AEckerman
- Posted March 7, 2008 at 8:15 am
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Hi Karen,
In the VHL handbook, which is available online at VHL.org, there is a detaild section about screening guidelines and recommendations. Here are the gneral recommendations for children ages 2 - 10:
Annually:
- Physical examination and neurological assessment by Pediatrician informed about VHL, with particular attention to blood pressure, lying and standing, neurological disturbance, nystagmus, strabismus, white pupil, and other signs which might indicate a referral to a retinal specialist.
- Eye/retinal examination with indirect ophthalmoscope by ophthalmologist informed about VHL, using a dilated exam.
- Test for elevated catecholamines and metanephrines in 24-hour urine or blood sample. Abdominal ultrasonography annually from 8 years or earlier if indicated. Abdominal MRI or MIBG scan only if biochemical abnormalities found.
Every 2-3 years:
- Complete audiology assessment by an audiologist. Annually if any hearing loss, tinnitus, or vertigo is found.
Perhaps you could take a copy of the handbook to your pediatrician and get the testing done through them? One urine catch will not give the adequate results. It has to be a full 24 hours collection. It might be easier to do the blood test - the plasma free metanephrine test. That would only require one trip to the children's hospital?
I am sorry your genetic department is dropping the ball. All the more reason for you to become a strong, educated advocate for your child, which you are already doing!
Hope this helps,
Alison
- By batley
- Posted April 27, 2008 at 8:24 pm
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hi ive added you as a friend talk to your doctor and ask if they can take blood presure and maybe do the 24 hr tests do you fill she has any simtoms to get 24hr test done if so talk to them again and explain your worried keep trying good luck
- By gale
- Posted April 28, 2008 at 9:03 am
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There are a number of VHL Clinical Care Centers in the UK. See if one is near you http://www.vhl.org/aboutvhlfa/clinics2.htm.
Gale
- By MARYWEETMAN
- Posted May 7, 2008 at 9:29 am
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Dear David,
I was sorry to hear of all the anxiety you are having on behalf of your daughter and her screening.
There are a number of centres she could attend and if you contact me I will see if I can be of assistance to you. It may be helpful to you to link up with somebody in the U.K.
If you would like to do this please contact me on 01204 886112 or e-mail me on <maryweetman@waitrose.com> or see the website<vhlcg.com>
Mary
VHLCG UK
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