This is about our journey with our son Naithan John Mathew living with a rare disease called Lowe syndrome, or the Oculocerebrorenal syndrome; we call it as Peter Pan syndrome. It is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual proteinuria.
We were like most of the first-time parents excited about our first born; over joyed! But our joy did not last long. When he was 45 days old, we noted a cloudiness in his eyes. Most of the people around us told us to ignore it and said it will go as he grows. But we decided to get an expert opinion and realized that the cloudiness is in fact congenital cataract. Instantly we had some trouble in finding the right doctor. However, we did find the right one and the cataract was removed when he was 60 days old. IOL was not implanted at that time. It was just the beginning. Soon, after surgery he developed postoperative glaucoma that required constant follow-up with his doctors.
When Naithan was six months old, his pediatrician informed us that he had missed some of his development milestone. That was the first time we heard the word development milestone. Thankfully we admitted him at Saint John’s Medical College to find the answers to three W questions (what, who, why). But nothing conclusive was found at that time. The doctors advised to start physiotherapy and we started it. Due my job change we moved to Pune. Finding therapists and doctors in the new city was very challenging. But we found a very good physio therapist and then excellent ophthalmologist. When he was 1 and 1/2-years-old IOL was implanted. During his cataract removal surgery, suggestion was to do IOL at 6 years of age. It would have been too late for us. Sometime sit is good to take 2nd and 3rd opinions.
One year later we noted a change in the color of his urine, we took it seriously and after consultation with different doctors in different hospitals, he was diagnosed with Lowe Syndrome. But we were unable to find a lab that can test and confirm the same. We started our research about Lowe Syndrome and realized the seriousness of it. On his developmental side, we were solely focused on physiotherapy but soon we realized that his speech is also delayed. We started to search for a speech therapist and found it is difficult to find one. When we finally found a speech therapist, we found a new problem - that his therapist is in a different place. It is challenging to manage his therapies doctors’ appointments as we have to visit different places. Within three and a half years he started to walk, but speech was nowhere near.
From a parent’s side, when our son was born, all we were hoping was that he will be like every other child. Learning everything quickly, ahead of all other children. We just need to take of his needs. We were never ready for a child like Naithan. But we didn't lose hope and we always try to find the right doctors and therapist for him. Some of the therapists and doctors were not good, but we changed the doctors and therapists until we found the right ones.
We returned to Bangalore and St. John’s hospital, this time to pediatric nephrology department; under the care of Dr Arpana Iyengar and Dr. Anil Vasudevan. With their help we will be able to manage Nephrotic issues related to Lowe syndrome. They helped us confirming Lowe Syndrome and found answers to the who, what and why questions.
Doctor Anil informed as about a research program at NCBS focused on OCLR gene. He explained in details about the research program. From our own research we know that there is no cure Lowe Syndrome and there is only one end. So this research program was our only hope. We also know that there is no guarantee that the research will find a cure. So we decided that even if it doesn't help our son it will help many other children with similar diseases. So we gladly agreed to be a part of research program and Dr Vikram from NCBS explained more details about the program. Both Dr Anil and Vikram kept us posted about the wonderful progress they were making through the research program.
In the meantime, even in the city of Bangalore we had a difficult time in finding all the therapists Naithan needed. We managed to find a therapy center focused on early intervention. It was a great place since all therapists were available in one place, except for speech. Special thanks to Sowmya Kuduvalli and Hope Early Intervention Centre, for guiding us through a very difficult time . We founded different speech therapist at a different place. Again, the struggle of managing the appointments, traveling across city, it is difficult. Next challenge came in the form of finding a nursery school which will accept Naithan. Many of the schools simply refused saying that they don't have the facility to take care. But again we found one Montessori which was ready to accept Naithan.
Since Lowe Syndrome impacts multiple organs and causes gross motor delay, speech impairment, dental deformation, we need to consult many specialists like nephrologist, ophthalmologist, pediatrician, orthopedist, speech therapist, and more. Since the appointments were managed independently, we realized that there should be one doctor who will oversee the entire treatment. So we reached out to unit of hope at St. John’s hospital and doctor Maria Levin took up this role along with the doctor Shilpa.
From our side we decided to focus on his functional and social skills. We focused less on academics as our objective was to make himself reliant.
Naithan is now 11 years old, looks like a 5 year old child, behaves like a 4 year old. Like Peter Pan he may remain like a child forever. Strangely even though he can't sing he likes music, not just any, he has the special liking for music from 60s and 70s. There are a lot of struggles waiting for him in his journey ahead. We need to find a new special school for him. There is one problem for us in finding a new school is in India. Special schools are mostly focused on children with intellectual deficiency or autism. Children like Naithan need a different kind of school and sadly there are hardly any schools that can address their needs. Things could have been better if there are therapist centers across India which offers all therapies under one roof.
As a parent, the whole journey had a very high emotional impact in our life. Sometimes we feel helplessness, we cry, feel angry, feel lost, and mostly ask the question, 'why us and what we did for this?'. But we decided that no matter what comes in the road ahead we will keep our son happy and that is the only thing we need. We hope against all hopes that one day everything will be fine even when we know that, that day is not going to come.
- Arun Mathew
To know more about Lowe syndrome, read this interview with Prof Raghu Padinjat, cell biologist, Dean Research, NCBS-TIFR : https://news.ncbs.res.in/research/rare-disease-day-2022-conversation-prof-raghu-padinjat
Also, here are few myths and facts about rare diseases, from Dr. Anil Vasudevan (St. John's Hopsital, Bengaluru): https://www.instagram.com/p/CahpxrevsDG/