1. Getting to a Diagnosis
If your maternal bloodline indicates you carry the LHON mutation and you experience sudden, profound vision loss, it’s extremely likely LHON is the cause. If not, the journey to a diagnosis can be long and frustrating. LHON is so rare that medical professionals tend to focus first on more common causes of vision loss so it may take time before the diagnosis is made.
Finding the right medical resource can be difficult. Since vision loss is the initial concern, the first visit may be to an optometrist (“My vision suddenly got blurry; I guess I need glasses”). That may lead to a referral to an ophthalmologist, neurologist, or neuro-ophthalmologist, and it can take weeks to get an appointment with a specialist, while at the same time vision is suddenly and rapidly deteriorating.
If a parent, spouse or other concerned adult is available to schedule appointments and tests and generally act as a “patient advocate,” it can be very helpful since it’s difficult to navigate this maze for anyone, but particularly difficult for someone whose vision is deteriorating suddenly and significantly. Taking notes of comments by both the patient and the doctor can be very helpful, since each medical professional will ask much the same information as those seen before. Gathering test results along the way will save time later on. Sometimes a quick summary from the “patient advocate” with additional comments from the patient speeds the information-gathering portion of the appointment and leaves more time to discuss possible causes of the vision loss and related concerns, which is why you’re really there. Keeping a running chronology of key dates and events (doctor’s appointments, tests) with a copy of each doctor’s visit report and test result can be helpful.
2. Upon Receiving the Diagnosis
Having a diagnosis is helpful as it ends the search for a medical cause, and efforts can shift to learning more about the medical/scientific side of LHON as well as lifestyle issues related to coping with sudden vision loss. Those affected often begin with a "clinical diagnosis" based upon symptoms and family history. Many get genetic confirmation, with a specific mutation number. Information about the general odds of vision recovery for the most common mutations and the odds that other family members carrying the same mutation will eventually be affected are discussed in this article:
You can also discuss with your medical professional the possibility of locating a clinical trial for which you may be eligible, or taking supplements.
If both eyes have deteriorated to 20/200 or worse, then 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 after the diagnosis is received. In the U.S. there is a bureaucratic process involved when applying for Social Security and Deportment of Rehabilitation benefits, and having detailed records saves time in that process.
Most of those affected by LHON have no symptoms aside from vision loss. A small percentage do have additional symptoms, sometimes called LHON Plus or LHON-MS. A good resource to learn more is: LHON Plus.org
3. Others on the Maternal Bloodline & Genetic Counseling
Being diagnosed with LHON means that you suddenly know that 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 also carry the same LHON mutation. Because it is passed from a mother to all her children 100% of the time, it’s clear who carries it without the need for additional blood tests, though people often choose to have their own testing done.
It can be awkward telling extended family members that they carry the LHON gene. Telling them means that they suddenly need to worry about the potential of sudden vision loss, and that is difficult information to share. Yet it is important to share the information because there are environmental factors that are believed to increase the risk of vision loss among carriers of a LHON mutation such as inhaling smoke, drinking alcohol and taking certain antibiotics, so it’s valuable for all those carrying the LHON mutation to be made aware of the risk and the steps they can take to reduce that risk. Research on this topic can be found at:
Another reason to alert family members on the maternal bloodline that they carry a LHON genetic mutation is so that if they should begin to lose vision, they will know that it’s likely due to LHON. Otherwise they will go through weeks and months of unnecessary tests and the mental anguish of the unknown, since doctors will consider all other possible causes of vision loss before LHON since it is so rare, unless they are advised of a family history.
It is believed that the best opportunity to impact the outcome of LHON vision loss once it begins is as soon as possible to the time of onset of vision loss. If someone has been made aware that they carry a LHON mutation, then if they do start losing vision they can immediately seek clinical trials, any new treatment options, and medical care from an informed medical professional.
For support in preparing is to discuss the situation with family members on the maternal bloodline, it may be wise to discuss the situation with a genetic counselor, preferably one with some knowledge of LHON. Telephone consultation with an ocular genetic counselor at InformedDNA is an option. They can help in developing communication with families on the maternal bloodline, and can be offered as a resource for LHON genetic counseling. Below is a presentation about the value of genetic counseling for LHON families, and another with tips about genetic counseling and LHON.
People often wonder if their maternal relatives should be “tested”. This can be discussed with a genetic counselor. Usually people think that means genetic testing to see if the person actually carries a LHON genetic mutation. Another "testing" option for a LHON carrier is to see a LHON specialist to assess the optic nerves, to see if any subclinical changes have begun. While only a very few LHON specialists have the experience and background to make that assessment, it can be helpful to have baseline testing done.
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 generally occurs in the late teens or early twenties, and often much later. 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 will 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.