That’s how Usher Syndrome, a rare untreatable genetic disease leading to deaf blindness, first became a part of our lives. You can imagine the emotional rollercoaster, taking us from feeling a sense of shock and injustice to the struggle of dealing with an ‘unacceptable’ situation.
We felt like we had a mandate to fight for a change on behalf of our sons; to fight for a cure or a therapy. Because Usher is also a family affair we combined our efforts with families who had the same or a similar situation. It was then that we realised that we were not alone. Other people – other families – were facing the same challenges.
It’s been a long and winding road through uncharted and unfamiliar territory. Along the way, we received inspiring support from patient-focused researchers and highly-motivated scientists working on a tissue engineering approach to tackling Usher Syndrome.
Their work involves exploration of techniques such as gene therapy or cell therapy. Unlike amphibians and birds, the regeneration of a missing or dysfunctional cells does not take place in humans. Therefore the molecular genetic approach requires an appropriate animal model to understand the disease biology in humans.
Years ago, we could see from a role model, Lanzelot, a Briard Dog with a natural retinal degenerative disease, that gene replacement therapy using a viral vector does work: Lanzelot was treated and cured with this technique, he could run and play with all the other dogs after his treatment. It was the first time of the proof of a principle we all had dreamed about: It’s ironic that our hope for a cure came from an animal with a disease, Lanzelot – and meanwhile more than 50 dogs were involved in the research which gave us the promise to find a solution for our children.
After initial tests with lower species like zebrafish, the test results with a mouse mutant animal model could not be translated into humans, confirming the skepticism of researchers that “…mice tell lies…”.
Those were difficult days and we had to look for further, properly regulated, animal research as no non-animal alternatives or other second-best options are available.
After having tried out all other options with in vitro experiments on cell tissue, computer-animated models and so on, in the end an appropriate animal model cannot be excluded as a last resort, before you start clinical trials with human patients.
Living with a severe disability in these days of expectation and hope for a cure for an untreatable condition like Usher also sharpens our view and perspective on the animal research debate. First it is worth mentioning, that none of us are in a position to define what’s ethical what’s not. Furthermore, when weighing the merits of animal research, it’s important to take account of its purpose. One has to clearly differentiate between testing new cosmetics and efforts to heal patients suffering from severe disabilities.
I can see a social and emotional tendency to pit “animal welfare” against “human welfare”. An illness with the gravity of Ushers stands for the dark side of life. And, if Paul Ehrlich was right to refer to life as chemical incident, in our case it’s more like a chemical accident.
In line with the WHO, the “Constitution Of The World Health Organisation” health is defined as follows: “Health is the state of complete physical, mental and social wellbeing. The enjoyment of the highest attainable standards of health is one of the fundamental rights of every human being“. Further on, the “Convention On The Rights Of Persons With Disabilities” states that all people “…have equal rights to education, employment and cultural life…”.
While we would all prefer to live with a good genetic passport, some of us are living in the kingdom of the sick. Therefore, and from the above-mentioned social contract, our society owes it to people with disabilities to provide the necessary “facilitators” including research in cases like Usher.
I can see no dilemma between different ethical positions if one can agree to respect the scientific rationale for research in severe diseases, if there are no non-animal alternatives!
I ask for respect within the animal welfare debate for all who take a diverging opinion. Caretakers, research scientists and doctors are fighting for a better future life of our patients to end the drama of Usher. I stand for the mandate of my sons like all the others in the medical arena and believe in the basic ethical fundament of our Christian civilisation – called “humanity”.
In the past, researchers were celebrated as the catalysts of a better future. Today they are portrayed as cynical sinister characters “from Einstein to Frankenstein”.
In the stem cell debate the rivalry for ethical supremacy has taken an absurd focus: if the desire to cure very sick people is defamed as utilitarian thinking, a fair discussion is no longer possible. It is all a matter of weighing up ethics, humanity and confidence in treating suffering human beings who can only hope for a cure.
PHOTO CREDIT: NIDCD