OUR STORY
My name is Ivana Kildsgaard and our son has aniridia. It is a new condition in our families, so we do not have any prior experience in how to handle or treat the disease.
When our son Jan was born we were told he has cataract in both eyes, not much but still there. Only after 5 weeks, on a regular examination, the midwife notices he was not following objects. We were sent back to the hospital. The doctor examined his eyes and noticed that he was not reacting to light. His pupils were wide, so she thought the nurse dilated them before the examination. After convincing her the opposite, she concluded that something was wrong, so she sent us home and asked us to come on Monday. It was a Friday. The news that our son’s eyes are not working as they should shocked us. We spent the weekend in the belief that he was blind, imagining what kind of life he will have. On Monday we went back, were confirmed that Jan is missing the iris on both eyes and were told to protect him from strong light. They could not do anything else, but said they need to wait for further tests from a neuro-pediatrician. We spent days looking for answers on the Internet, searching for a diagnosis. Finally after several days we suspected Aniridia. It was a Friday again, so we had to wait until Monday before we could try contacting a doctor. We found a Swedish Aniridia site and rang immediately the contact person, Neven Milivojevic. After explaining the symptoms he confirmed that Jan might have Aniridia. He explained that he is suffering from the same disease.
It was surprising that we could not find a single information about how to treat newborn with Aniridia, even thought it is an inborn condition. A lot of information is scary since the disease has so many different varieties with possible additional complications, and not two persons are the same.
It took a long time to find out what are the steps for us to take. It took several months to get the hang out of it and understand what we are dealing with. That is why I decided to make notes and put down all the useful information we got, hoping this might help some other parents in similar situation.
One of the most often question we pose ourselves is “How good can Jan see compared to the other children?”. This is probably what other parents wonder as well. Today Jan is 8,5 months old. Recently he was tested at Stockholm Syncentral. He follows a 20cm board with a drawn face up to about 2,5 meter distance. He can see a person to about 3,5m. But that is still not conclusive since it is very difficult to test a so small child. Judgement is mostly left to parents since they spend the most time with their baby.
I started assembling all the information about how to handle a baby with aniridia, which protection is good and where to buy the special glasses. The document can be downloaded here . In case you have any questions, ideas or experiences do not hesitate to contact me at:
0704357142 or by mail at
THE PROCEDURE IN SWEDEN
In Sweden there is a procedure that is followed when a child is diagnosed to be visually impaired. Unfortunately, often this is not communicated to the patients directly. We had to find out everything by ourselves and ask for a referral from the doctors. We would have probably ended up going through the whole process but it would have taken a much longer time. Waiting is the worst!
So here is a list of action taken is Sweden.
For everything you need a referral!
1. Eye doctor sends a referral to:
a. Neuro-pediatrician – he/she examines the baby and requires a series of tests:
i. Genetic tests of the baby for the PAX6 gene and WAG1. Later parent genetic tests might also be required
ii. Ultrasound of kidneys and abdominal body
iii. Computer - mammography of the head
b. Synteamet at Syncentralen, a support group for children 0-19 years old with visual impairment as a primary handicap, and their parents. They consist of a psychologist, a curator and a special pedagog. They work with children and their families providing them psychological and practical support in how to deal with this new condition. It is a group one should get to as soon as possible after getting the diagnosis.
2. Synteam books an appointment with Syncentralen, an optician and a vision pedagog. They provide tools for helping children in their functioning, like sun glasses. They can also provide support in analysing your home or nursery for light conditions. Our baby got his first sunglasses when he was 4 months old.
You are entitled to search for:
1. Vårdbidrag – extra allowance from Social insurance (Försäkringskassan). If you get anything approved they are issuing it from the day you applied, so make sure you send in your application as soon as possible. Synteamet can provide you with a support letter explaining the condition and how much taking care of your child differs from having a child without any handicaps.
2. Bostadsbidrag – home adjustment. You search for this at your local municipality. Rules are different at different municipalities so you should investigate what is the procedure where you live. You can get a support letter from the visual pedagog at Syncentralen.