This story is about our 8-year-old son Kavyansh (we call him Kavy), and his journey over last 4 years. Kavy is a very handsome and charming boy. In 2017, soon after his 4th birthday, he was diagnosed with an extremely rare condition called Battens Disease. This affects 1 in 200000 children born in UK. Sadly it is a terminal illness as there has been no definitive treatment so far. This condition leads to early degeneration of the brain cells and the Retina (back) of the eyes, leading to development delays, epilepsy, loss of mobility, early dementia (memory loss) and blindness, ultimately leading to premature death. Very little awareness is there of this condition as it is so rare with no definitive cure. One could imagine how devastated we were to know that Kavy, our only child, would be with us for few more years only.

While we were still getting to terms with this shock, we were given a ray of hope when Kavya was referred by his Neurologist, for a novel treatment that had been going on for 2 years in the form of an International trial at 4 centres in the world. Fortunately Great Ormond Street Children's Hospital (GOSH) in London was a participating centre. Kavy was referred to the Metabolic medicine team at GOSH, where this trial was lead by Prof. Paul Gissen, Consultant in Metabolic Medicine. When we met Prof. Gissen in April 2017, we were informed that all the places in the trial have been taken and it was closed for any new entrants, however by the efforts of Prof. Gissen, and Batten Disease Family Association (BDFA), the charity supporting Batten’s family, an extra space was created by the sponsors of the trial and Kavy was so fortunate to be a part of it. We had no idea what the future had in store for Kavy; we decided to participate in the trial, as this was our only hope.

This treatment involved an initial surgery on the brain where a port was fitted under his scalp, with a tube going into the fluid chambers of his brain. Following this Kavy had his first treatment on 1st June 2017. There after he has been attending hospital every fortnight for last 4 years for an infusion therapy, which would involve replacing the missing enzyme in his brain via this port fitted in his brain. Kavy is now 4 years down the line and has a younger brother, who is nearly 2. Over these years we can see that he has not only stopped deteriorating physically but also he has gained some new skills and also shown signs of mental and personality development. He can still walk with a walking frame and with support of one, he eats and drinks orally; he enjoys various TV programmes and playing on iPad, he still plays with all his toys, he goes for horse riding, swimming and his exercise bike. All this would not have been possible without this experimental treatment he has been getting for 4 years.

Sadly, one of the major disabling parts of this condition is progressive blindness due to the involvement of Retina (the back of the eyes) where the image is processed. The treatment in the brain does not reach the eyes hence the eye disease continued to progress. I am a Neurosurgeon and my wife is a dentist. Certainly our medical background was a plus point for Kavyansh, in this journey. Ever since Kavy started his brain treatment, I had been researching around any experimental treatments happening anywhere in the world that could possibly stop the progression of the disease in the eyes. After few months of search, I found that a study was conducted in the USA, in which the same enzyme, which Kavy was receiving in his brain, was trialled in the eyes of a certain type of model on dogs, who were genetically modified for same condition replicating the Battens disease in children, The results of this animal study were very encouraging with strong evidence of slowing the disease progression in the eyes.

Ever since, I had been working closely with the specialists at GOSH and pushing for a study to trial this treatment in these children to stop the progression of loss of vision. After nearly 3 long years of effort put in by families including ours, along with Kavy’s Consultants in GOSH, Prof. Paul Gissen and Mr Robert Henderson, Consultant Paediatric Ophthalmologist specialized in Retinal diseases; finally a compassionate use programme was designed in 2020. It went through an elaborate approval process among various committees of the hospital and NHS England and delayed by COVID-19 pandemic.

I am so pleased to inform that the first treatment to this effect was administered on Tuesday the 6th July at GOSH. This involved Kavy undergoing an injection of a small dose of this enzyme in the back of the eyes under a general anaesthetic. This is the first ever treatment of Enzyme Replacement Therapy in the eyes that has been trialled in the world and I am so proud that Kavy has been first to volunteer for it despite some risks associated with it. The first treatment has been delivered successfully. This treatment will be repeated every 2 months over a period of 18 months. Although Kavy has limited vision left in his eyes as it took more than 3 years to make this happen, we are still very hopeful that he would be able to save some vision. This treatment does have some risks, however considering the fact that there is no other treatment available till date, we still feel it is worth it.

Despite all the pressure Kavy’s treatment has put on us as a family and the sacrifices both us, as parents, have made including career and not been able to see our extended family back in India for years, we still feel that every smile of Kavy is worth it and we will be supporting him together for as long as possible. Most importantly, if this trial works, then so many children undergoing the brain treatment in over 20 countries in the world now, who still have some hope of securing some vision and would not have to live in dark.

As the treatment for the eyes is being given on a compassionate basis, there is no funding support available. Hence, the families of these children and the BDFA have been fundraising to support this study. We would request you to help us with this noble cause and help these children to have a better life, which they so much deserve, like any other child. Any small contribution will take us a long way. Please do share Kavy’s story as widely as possible among your friends and families to support the cause.

Many Thanks

Rahul & Swati (Parents of Kavyansh)