Raising funds to support VHL research

About The CVHLA

The Canadian VHL Alliance (CVHLA) is a non-profit focused on supporting patients, families, and caregivers affected by von Hippel Lindau disease (VHL). The CVHLA is a great resource for patients, caregivers, researchers, and the medical community.

 

Our Mission

To fund VHL research, education and support in Canada.

Our VIsion

To improve the quality of life of Canadian VHL patients and families.

Our Values

  • Inclusive
  • Accessible
  • Transparent
  • Supportive
  • Empowering
  • Compassionate
  • Provide Leadership

Our History

 

The Canadian VHL Alliance has been active for over 20 years and has partnered with the US VHL Alliance on key initiatives.  Additionally our organization is affiliated with twenty-two International VHL Alliances globally.

The money that we have raised through local fundraising activities, like the Rick Bracey Memorial Tournament and the generosity of Canadian donors, has allowed us to support our partner, the Cancer Research Society’s (CRS) efforts. The CRS turned our $120,000 into $480,000 of research on VHL.

We also help by providing education and support to Canadian VHL patients and their families.

Become a Volunteer and Help Make Change

VHL is a rare disease, and we need your help to focus attention and awareness on VHL to the public.

 

Volunteer

Actively fundraising and supporting VHL for over 20 years

$ Raised

Volunteers

Families Supported

How common is VHL?

VHL Disease is rare. It occurs in about 1 in 36,000 births. Both women and men can have it. Most cases of VHL Disease are inherited (passed down) from a parent, but about 20% of individuals with VHL are the first members of their family to have the disease.

What causes VHL?

VHL is caused by a mutated gene, the “suppressor gene” that is involved in preventing tumors from growing in the body. a mutated VHL gene can increase the chance that certain tumors will develop and cause VHL Disease. Mutations of the VHL supporessor gene can ge detected through DNA testing.

What is involved in DNA testing?

This is just a simple blood test that is typically completed in the genetics department of your hospital.The results typically take 14-21 days to completion.

Who should get tested?

VHL genetic testing is generally recommended for the following:

  • any individual with suspected VHL disease who does not meet clinical criteria
  • any asymptomatic child with a parent known to have a pathogenic VHL mutation
  • any individual with a family history of VHL disease
  • any individual with a clinical diagnosis of VHL disease interesting in pursuing preimplantation genetic diagnosis or prenatal testing for this condition

What does a negative VHL DNA test result mean?

A negative VHL mutation can be indicated for a few reasons:

  • You may not have the mutation at all but the gene is in your family
  • You may have a mutation in a different gene that causes VHL like disease. Other diseases share similar features with VHL diseases. Other hereditary diseases can cause kidney cancer or renal cell carcinoma. Your genetic counsellor may recommend testing for other syndromes.
  • The VHL presentation may have been a spontaneous mutation (not inherited), and may not show in every cell of your body, causing a negative result, when another test may show a positive result.

What does a positive VHL test result mean?

A positive result means that mutation in the VHL gene was found. This means that you have an increased risk for developing certain features associated with VHL syndrome. The exact risks for VHL disease related tumors are not yet known, and vary from one person to another. Tumors may develop in the spine, the brain, the retina, kidney, pancreas and adrenal glands. There is also risk for tumors in the inner ears, liver cysts and benign tumors of the genital tract, the epidydimis in men and the broad ligament of the uterus in women.

If I have the VHL gene, what are the risks to my children?

If you have the VHL mutation, each of your children will have a one in two chance of inheriting the gene. A child who inherits the mutated VHL gene would inherit the risks associated with it. However, the same mutation may cause different problems, or not cause any problems, in different family members. It is a good idea for your children to have genetic counselling and consider genetic testing an an early age for preventative treatment.

If I have a VHL mutation, what are options for eliminating the gene for my children?

If you have the VHL mutation, you may want to learn about options for family planning. for example, embryos can be tested for the family’s genetic mutation before they are even implanted in a woman’s uterus. This process is called pre-implantation genetic diagnosis (PGD). This is performed in combination with an in-vitro fertilization (IVF), and may be an option for families who wish to have children without the hereditary cancer risk.

Memorial Sloan Kettering Cancer Centre – Patient and Caregiver Education

Get in Touch. Get Involved.

Become a volunteer and help make a change! VHL is a rare disease, and we need your help to focus attention and awareness on VHL to the public.