1. Getting to a Diagnosis
The journey to an LHON diagnosis can be long and frustrating. Because it's a rare disease, with little available in terms of approved treatment, medical professionals may focus on more common, treatable causes of vision loss. They may not be familiar with LHON symptoms, or may have inaccurate information about age and gender of onset. They may see nothing wrong with the eye and fail to consider the optic nerve as the potential issue. The genetic testing process may be long and expensive.
Finding the right medical resource can be difficult. The first visit may be to an optometrist when the patient thinks, “My vision suddenly got blurry, I guess I need glasses”. That may lead to a visit with an ophthalmologist or neurologist. A neuro-ophthalmologist is best trained to diagnose LHON, but it can take weeks or months to get an appointment, while vision is suddenly and rapidly deteriorating.
If a parent, spouse, or other sighted supporter can schedule appointments and tests and generally act as a “patient advocate,” it can be helpful since it’s difficult to navigate this maze for anyone, and particularly difficult for someone whose vision is deteriorating suddenly and significantly. Taking notes of comments by both the patient and the doctor can be helpful, since each medical professional will generally ask the same questions. Requesting a copy of test results at each appointment is more efficient than tracking them down later. A quick summary from the “patient advocate” with additional comments from the patient can speed the information-gathering portion of each appointment, leaving more time to discuss possible causes of the vision loss and related concerns. Keeping a running chronology of key dates and events (doctor’s appointments, tests) with a copy of each doctor’s visit report and test results can be helpful.
The diagnostic process can be expedited if your maternal bloodline indicates you likely carry an LHON mutation. Experiencing sudden, painless vision loss should prompt an urgent visit to an eye care professional to determine if LHON onset is underway.
2. Upon Receiving the Diagnosis
An LHON diagnosis may begin as a "clinical diagnosis" based on symptoms and family history. Genetic testing usually confirms the diagnosis with a specific mutation. Having a confirmed diagnosis is helpful as it ends the search for a medical cause, and efforts can shift to learning specifics about LHON as well as lifestyle issues related to coping with sudden vision loss. Once diagnosed, it's good to discuss with your medical professional if there are any clinical trials underway for which you may be eligible, or if taking specific supplements would be appropriate for you.
Both eyes usually deteriorate to 20/200 or worse, at which point the diagnosis of legally blind can be made. This qualifies for a variety of services, discussed in the “Living with LHON” section. If a “patient advocate” has kept detailed notes and gathered records along the way, it can came in handy when applying for Social Security and Department of Rehabilitation benefits, as those processes are likely to require detailed records.
Most of those affected by LHON have no symptoms aside from vision loss. A small percentage do have additional symptoms, sometimes called LHON Plus, and there is information about it on the Living with LHON page.
3. Others on the Maternal Bloodline & Genetic Counseling
Being diagnosed with LHON means that you suddenly know that everyone on your maternal bloodline including your mom, her siblings, the children of your maternal aunts, your siblings, your children and future children (if you’re a woman) and your sisters’ current and future children very likely carry the same LHON mutation. Because it is almost always passed from a mother to all her children, it’s generally clear who carries it without the need for additional genetic tests, though people may choose to have their own testing done.
It can be awkward telling extended family members that they likely carry an LHON gene mutation. Telling them means that they suddenly need to worry about the potential of sudden vision loss, and that is difficult information to share and receive. Sharing the information allows family members to become aware of environmental factors that are believed to impact the risk of vision loss among carriers of an LHON mutation such as inhaling smoke, drinking alcohol, and taking certain antibiotics. Prevention may be their best opportunity to reduce the odds of LHON vision loss, and knowledge is power. If they should begin to lose vision, they will know that it’s likely due to LHON so they can avoid weeks and months of unnecessary, costly, and invasive tests and treatments as well as the mental anguish of the unknown. Initiating treatment if available may be most effective when initiated as soon as possible after onset. If someone has been made aware that they carry an LHON mutation, then they can immediately seek clinical trials, treatment options, and medical care from an informed medical professional if they do start losing vision.
For support in preparing to discuss the situation with family members on the maternal bloodline, it may be helpful to discuss the situation with a genetic counselor, preferably one with some knowledge of LHON. Telephone consultation with an ocular genetic counselor is an option. They can help prepare for communication with family members on the maternal bloodline, and can be offered as a resource for their own LHON genetic counseling. This video can be provided to family members on the maternal bloodline.
People often wonder if their maternal relatives should be “tested”. Usually people think that means genetic testing to see if the person actually carries an LHON genetic mutation, which may or may not be necessary. Another "testing" option for an LHON carrier is to see a LHON specialist or other neuro-ophthalmologist to assess the optic nerves, to have baseline testing done. This video and handout explain important steps LHON Carriers may wish to take.
4. Who’s in Charge?
Many rare diseases and blindness onset in early childhood, so in those situations it’s the parents who are in charge of their child’s medical care and all related decisions. LHON can present unique challenges because onset of vision loss most often occurs after childhood. If the affected individual is an adult, it is their choice what medical advice to follow and what life choices to make when confronting sudden vision loss. Parents and spouses may feel a natural inclination to step in and provide support when they see their loved one struggling, while at the same time the affected person may be striving to maintain their independence, particularly as the sudden vision loss creates a sense of loss of independence. The loved ones of someone affected by LHON may suddenly need to provide some form of care/support to someone who had previously been independent. These issues of dependence and independence tend to create stress on the person affected by LHON as well as on all family members, and therapeutic support for all may be helpful.