Aniridia Network

During my visit to the National Institute For Health (NIH) in 2009 to participate in the WAGR/11p Deletion Syndrome research, one of the findings was that I had a smaller than average pineal gland.

The NIH research and previous studies are discovering a possible link between the PAX6 gene and the development of the brain. It is thought that people with aniridia may have smaller or completely absent pineal gland.

The gland is responsible for producing a hormone called melatonin. Therefore people with aniridia who have been found to have a smaller than average, or no pineal gland may have lack of melatonin.  Melatonin is the hormone that regulates sleep. So people with aniridia may have problems sleeping.

The researchers at the NIH are recommending people who have been found to have a small or no pineal gland to take melatonin supplements to improve their quality of sleep and regulate their sleep patterns better.

This is absolutely fine for people living in the USA, where melatonin is readily available over the counter. However, in the UK it is not so easy. Here, melatonin is not a licensed drug, and it is usually only give to people over the age of 50. It has to be prescribed by a consultant neurologist. However even getting a referral to neurologist can be extremely difficult!

When I returned from my visit to the NIH, I made an appointment with my GP to talk over the test results, including the MRI scan showing I had a small pineal gland. I asked her to refer me to a neurologist who could prescribe me melatonin. She looked in her book, to see what she needed to do, and wrote a letter asking for advice from a neurologist at the local hospital.

Although I don’t have huge problems with my sleep patterns, there is definitely room for improvement, and I was curious to find out how, if at all, melatonin supplements could help me. I had read on the WAGR Yahoo mailing list, stories of how melatonin had given children with WAGR/11p Deletion Syndrome a better quality of sleep. Parents have reported that since their child has started taking melatonin, they

• (stay) asleep for longer
• wake up more refreshed
• are less tired during the day.

Some of the issues I have are that: I do not feel sleepy at night, then find hard to ‘switch off’ to and fall asleep. I can easily be working on my laptop until the early hours of the morning without feeling the need to go to bed. I have to have some background noise to fall asleep to too. Usually I put on an audio book or a music CD. Once I have fallen asleep, stay asleep and don’t wake up unless I need the toilet. When I am working, I wake up when my alarm goes off at 7:30. If it is not a working day, then I can stay asleep until about 10 or 11. I usually get easily tired during the day, and sometimes can get so over-tired that I become ill with migraines. So I was keen to see if melatonin could help with these issues.

In summer 2010, a friend whose daughter has aniridia gave me some left over tablets of melatonin to try. I found that they did in fact make a noticeable difference. I was able to fall asleep more easily and I actually felt sleepy. They also made me feel more wide awake in the mornings. After these tablets ran out, I desperately wanted to get a prescription because i knew they actually were a benefit to me.

The neurologist that the GP had written to, said he couldn’t help me. So next I approached my ophthalmologist to ask him if he could refer me to a neurologist. He was very understanding and happily agreed to ask for a referral, even though he had not heard of the research into aniridia and the pineal gland. However, the neurologist he wrote to turned out to be the same neurologist that the GP had written to previously!

The neurologist, wrote another letter saying that he couldn’t help, but this time, suggested another that might. So my GP, made me an appointment with this second neurologist, who has an interest in sleep problems.

I had that appointment in April, and found it incredibly helpful. Not only did the neurologist agree to recommend the GP give me a prescription for melatonin, he was very interested and said he would write to an expert for more advice. I thought the appointment would be a one off, but I have a follow up appointment for October. In the appointment, the neurologist, asked me questions about my sleeping habits and did a survey. He said that he did not want to examine me then, but would in October. We chatted about what dosage of melatonin would suit me best, and agreed that 4mg would be most effective for me personally. It was a very informal meeting and I felt very relaxed and comfortable. I even admitted that I had been sent melatonin from a friend in America.

A few weeks after my appointment, my GP sent me a letter with a melatonin prescription enclosed.

Ed: Have aniridia and want/use melatonin? Comment below or write a post of your own to tell your story.