LHON diagnosis: Opening peoples’ eyes to the invisible suffering of LHON patients
Maryse Roger has firsthand experience of Leber’s hereditary optic neuropathy (LHON), having first assisted her two brothers as their sight deteriorated and then leading the care of her son when he too was diagnosed with the vision loss condition.
Maryse has two siblings and her youngest brother, who died tragically in an accident last year, began showing signs of LHON when he was 21 years old, while for the older of her brothers it struck much earlier.
Now president of a French LHON patient group, she talked to pharmaphorum about the diagnosis of her brother and son, the impact the rare disease has had on her family, how physician understanding of LHON is changing and where Ouvrir Les Yeux is working to make a difference.
Overcoming the shock of LHON diagnosis
It was a terrible shock to Maryse’s parents when her brother David started to suffer from LHON aged 10. They knew nothing about the condition and the terrible risk of blindness that it comes with, so faced a steep learning curve.
This process was helped by their son being treated in the Lille Teaching Hospital Centre. The centre has spent a number of years developing an interest in LHON and treats a relatively large number of LHON patients, so it was able to provide a faster than usual diagnosis. This was followed by initial treatment with a cortisone medicine, but that didn’t help improve things.
Nevertheless, Maryse’s brother David forged his way through the school system, beginning at a specialised school some 40 km from home and then continuing in mainstream education.
“My brother had the courage to go on to secondary school and higher education,” Maryse explains. “However, the adaptation of documents was down to the goodwill of teachers. While some of them were fantastic, others did not try to adapt their teaching. Fortunately, there was solidarity among the pupils.”
“At that time there were unfortunately no disease associations such as Ouvrir Les Yeux (Open Your Eyes).”
When Gilles, the youngest of her two brothers, was affected he was a working as a mobile sales rep. LHON meant he could no longer drive and had to stop this particular job. However, he continued to work by setting up his own company. He has invested a great deal of time and effort in helping people with disabilities.
Maryse’s son was diagnosed aged eight, by which time, unbeknownst to both him and his parents, his first eye was already affected, and he had already started to lose a lot of vision in his second eye. “We were on alert,” she says, “knowing that the disease was hovering over us. Moreover, when he could not read a price label I was so afraid and the very next day we went to the ophthalmological emergency room where the loss of central vision was confirmed.”
The diagnoses caused a lot of anxiety for Maryse and her family as they all found themselves having to adapt to her brother’s and son’s handicap, questioning what future professional and personal avenues would be open to them and even what leisure activities would be possible.
“My brother David fortunately continued to play football – children have quite an extraordinary capacity to adapt. Therefore, he was able to continue to visit youth centres in the village, even if he did not go to school with them,” says Maryse. “He was, however, extremely courageous in continuing his education at a specialist secondary school and then in higher education.”
But she adds: “Once Leber’s Hereditary Optic Neuropathy was known within the family the threat weighed over us. It really was like the Sword of Damocles and I myself was then also affected by LHON four years after my son.”
To follow her brother’s education Maryse’s mother learnt braille. Then a small girl, Maryse recalls how tedious it must have been for her mother to have to fill in all the necessary administrative records related to her brother’s handicap. “When my mother unfortunately died four years after my brother’s LOHN began, I took over as best I could to help my father and brothers.”
As part of this she abandoned her desire to be a journalist and changed to less onerous studies that wouldn’t affect the help she could give her family.
A teacher’s degree proved to be a reasonable solution to this problem, and happily the profession proved to be one for which she had a passion.
Improving LHON diagnosis and treatment
In addition to the foundation of an LHON patient group such as Ouvrir Les Yeux, Maryse also says physician understanding of LHON has evolved considerably, though medical science still has some way to go. “Even today, doctors do not know why some people get LHON and others do not. When the disease is not well known in the family, patients who do not go to a rare disease centre often go to different specialists, and it takes a very long time before the diagnosis is made. LHON is sometimes confused with other diseases and the patient might be told that what is happening to him is psychological. We now know that mothers pass on the disease to their children and that girls can also be affected.”
There are several specialist centres in France working to improve the diagnosis and treatment of LHON, grouped within the OPHTARA Centre, a branch of Subsidiary SENSGENE with which Ouvrir Les Yeux partners, but access to clinical trials for the rare disease has lagged. For Maryse when first her brother and then her son began to present with the disease no studies were available.
But, Maryse says, the biggest challenge in LHON is finding the financial support for further research into a treatment to prevent its onset and ultimately cure it.
Combating the invisible suffering of LHON
An invisible handicap such as Leber’s Hereditary Optic Neuropathy unfortunately brings with it a lot of invisible suffering. After attending Ouvrir Les Yeux’s general assembly for the first time in 2006 she was determined to commit herself to it and improve the isolation that visual impairment can bring.
For a handicap to be understood, the public and physicians need to know how to approach those suffering from a rare disease like LHON and how best to communicate with them. Maryse feels that healthcare and social workers should communicate more often and more clearly among themselves and provide personalised advice on areas such as educational inclusion, the effects of sudden blindness and how to hold down a job with a condition like LHON.
As part of its drive to help patients and their families, Ouvrir Les Yeux organises an annual national meeting as well as further regional events for doctors and researchers.
It also supports its members by putting them in contact with one another via a monthly telephone meeting organised by a voluntary psychologist within the association so that patients can more easily share their experience and feelings of isolation can be reduced.
Spreading the word about LHON
Maryse says general awareness of blindness among healthcare professionals, patients, their families, and the public is increasing, leading to improved options in education and other community settings. However, more still needs to be done to spread the word about LHON and rare diseases as a whole.
About the interviewee:
Maryse Roger has been involved in actions led by the association Ouvrir Les Yeux since 2006 and was honoured by being elected president of the association in 2012. As a person affected by Leber’s Hereditary Optic Neuropathy on several levels, she works with the Ouvrir Les Yeux board of directors, volunteers and its communications officer to assist people affected by this pathology. She is also heavily dedicated to facilitating research, LHON information for the public and, more generally, increasing awareness about visual handicaps and their impact.