Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL) is a rare genetic disease that causes progressive loss of tiny blood vessels, ultimately resulting in visual deterioration and a series of mini-strokes in the brain. It has been called by several names including CRV (cerebroretinal vasculopathy) and HERNS. The initial symptoms often are visual disturbances that begin in middle age (35 to 50 years old). There is a life expectancy of approximately 5 to 15 years following onset of symptoms. A mutation in the gene called TREX1 causes RVCL. In families that carry the RVCL gene, each child has a 50% chance of inheriting the disease. Diagnosis is conclusively established by genetic testing for TREX1 gene mutations. Generally, you must be over 18 for testing. Currently, there are no established preventative therapies or treatments, although clinical trials with an experimental drug are in progress at our center.
Deciding what to do
Often, when an individual learns about their risk for developing RVCL, an immediate reaction is to get tested. However, it is better to carefully examine the issue and weigh your options rather than immediately jump into doing it when your emotions may already be high. While the decision whether or not to test is important, also key is when to test. Thus, there are many issues to consider including emotional, financial, insurance, and family reasons.
You might choose to be tested because:
- You want to know whether you will get the disease in order to better prepare yourself and your family if your test is positive. You might choose, for example, to set up financial and insurance arrangements in a certain way or modify other life plans.
- You want to know because the result will affect decisions about having children.
- You believe the anxiety of not knowing if you will get the disease is worse than the certainty of knowing that you will get it.
You might not choose to be tested because:
- News of a positive result (meaning you have the changed gene) could be so devastating that you’d prefer to live your life without knowing.
- You are concerned about how the results would affect your relationships. If you test negative (you do not have the changed gene), you may feel guilty if other family members test positive.
- You think there is no point in knowing now because there would be nothing you could do to prevent the disease.
- The test and counseling may be too expensive for you, and you do not have health insurance coverage or you know your insurance would not pay for it.
- You are concerned about the possibility of facing discrimination at work or with future health insurance. Many people worry that genetic information released to insurance companies may affect future employment options or the cost or availability of insurance.
- Importantly, at present, anti-discrimination laws do not cover life insurance, disability insurance, or long-term care insurance.
Choosing to get tested
Before being genetically tested for RVCL, we highly recommend you receive genetic counseling to prepare you emotionally and practically for issues that will likely arise. For example, we will advise you on how to take care of important matters such as securing insurance including long-term disability and health and life insurance. A private physician can order the test, but may not appropriately prepare you for the results.
At our RVCL Research Center, we provide genetic counseling and testing to you at no cost. Your first visit would encompass an informative discussion with our counselor, Stacey Barton. If and when you decide to move forward with testing, we would mail you a requisition form and instructions for the genetic test. You would then visit a local blood drawing facility to have your blood drawn (less than a tablespoon) and it would be sent out for testing. When the results come back to us (~ a month later), Dr. Atkinson, the director of the RVCL Research Center, would contact you to discuss the findings. You are always free to further interact with our counselors.
We can help
There is no right or wrong answer when it comes to making a decision about testing. We all live different lives and we all make different decisions. Some will choose to test (but will vary at what stage in their life they choose to do so), others will not. However, we strongly recommend getting the genetic test especially when you consider having children of your own. There are now means to prevent transmitting the gene to your future family.
At the RVCL Research Center, we are here to help you in any way we can. If you have more questions or are ready to schedule the test, contact our RVCL patient coordinator, Madonna Bogacki, 314-362-8391, firstname.lastname@example.org or contact us via our web site by clicking below: