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Tanya's Story

Our 9 year old son has recently been diagnosed with Stargardt’s disease.  This is our story:


At the start of Year 2 (2005), our son (7years) expressed difficult seeing the blackboard.  The school nurse did a vision test In March 05 with inconclusive results of L 6/12 & R 6/36 and suggested we take him to an optometrist.  I had never noticed Luke having any problems seeing things but took him for a test to get it checked out.  Luke got every letter on the eye chart wrong and I was seriously concerned until the Optometrist said, his vision is fine, “it’s just a confidence problem”  His results were noted as L 6/18 & R 6/60.  I returned this report to the school nurse who was not impressed and ordered another vision test later than month with results of L 6/18 & R 6/60.  She then suggested we visit our GP and get a referral to see an opthamologist…


August 05, our Opthamologist stated that Lukes vision was fine but he would like to put Luke through some Electrophysiology Tests just to make sure.  At this stage he still could not see the blackboard and he was sitting less than a metre from the board.  His teacher was also expressing that she felt there was a visual problem.   It had also just come to my attention that Luke never sat on the lounge with the rest of the family to watch TV but instead sat on the floor close to it, and he was holding his books closer.  I did not know it at the time but Lukes vision test results were 6/60 in both eyes but I was not told this.  Not once did anyone explain to me what these figures meant and I had no idea, but took comfort that everyone was telling me his vision was fine and that there was nothing wrong. 


Luke underwent Electrophysiology tests in Sept 05 (4 hours worth), I received a phone call saying they were inconclusive due to patient co-operation factors and we would need a re-test.  In Nov 05 we had the retest (2 hrs) and received a note stating that the results were within normal limits and that his perceived vision loss was psychological, caused by apprehension or attention seeking,  and that there was definitely NO physical problem with the eyes or visual pathways and that no further follow up was required for 12 months.


Year 3 (2006), the child health nurse and a new teacher were both concerned that there was still a visual problem and by this stage I believed it too, but having been to the “experts” and undergone all the tests with the assurance that all was well, what could I do…!  I booked an apt with an optometrist in our local shopping centre for a vision test and told him nothing.  He could see there was a problem but didn’t know what it was, I told him what we had been through.  2 Hours later he sent us on our way and promised he would look into it.  7pm that night he rang to say he had been doing some research and thought he knew what it was but wanted to send us to a Behavioural Optometrist.  Little did I know at the time, they study the behaviour of the “eye”, not the behaviour of the child…Lukes pupils were constricting and relaxing like a spasm as if they didn’t know what to focus on!


We went to the Behavioural Optometrist and my greatest concern was, “Luke might have to wear glasses”.  The optometrist spent 2 hours with us, he then asked if I minded if his partner could view Luke for a second opinion.  I sat there with the kids fidgeting and playing at my feet, while they both explained that they were sure that Luke had a rare disease called “Stargardts” and that there was No cure or treatment, glasses won’t help and that it will get worse…..prognosis – legally blind! (I had no idea what this term meant at the time, I only centred on the word “blind”.  Retinal photos were taken and shown to me comparing them with a normal eye and you could see a distinct difference.  We were referred to a specialist in Retinal Diseases to confirm the diagnosis.  In shock, I thanked them for their time and left the office.  I took the kids to a nearby park to burn off some energy and absorb what I had just heard, and about an hour later it hit me.  I had never felt so alone, so afraid for my child’s future, and had so many questions buzzing around my head. Had I heard it right?  Was my son losing his vision?  Surely there was something that could be done to fix it!!!!!!!


And so begun the grieving cycle, the following weeks were just a blur of tears, surfing the internet for information, worry and waiting for an appointment to confirm our worst fears.  This website provided much needed information and comfort.  I was also put in contact with others in the same boat.  Someone I could talk to who knew exactly what we were going through, along with emotional support for the grieving of our son’s loss of vision.  The more I learnt, the more I was convinced of Lukes diagnosis because of the similarities.  Five weeks later we turned up for our appointment.  Despite our appointment changing three times and being assured we would not have to have a fleuroscein angiogram, the nurse came out on the day and advised us that we did.  Thanks to another mother, I knew all about the procedure, had discussed it with our son prior to the day and had purchased some “Emla” cream to numb the needle site.  This was very distressing for us all, and if I could have had the needle for him I would have.  They did not have a chair for children, so Luke had to stand during the procedure whilst I stood behind him waiting for his knees to buckle when the feeling of nausea came.  The technicians & nurses were truly wonderful and compassionate but when I asked when we would see the Dr, they advised he had already left and that we wouldn’t see him until the results came through.  So we were sent home, with No answers to our many questions and still No diagnosis but waiting for a letter to confirm a follow-up appointment.  It was the last term of school and we experimented with enlarging his worksheets to A3 size, Luke thought it was wonderful and with this, he would often be the first student to finish in class.  While my husband & I struggled during this time, Luke was content & relieved that now somebody believed him and would help him.  He was also sharing with us for the first time,  things he found difficult to see and we were able to  change a few things, including the furniture to help him see his world better.  I was in awe of my son and the difficulties that he had just accepted and learnt to work with, without my knowing.  Children are amazing!


Two weeks later we had our formal diagnosis, we waited for 3 hours and got less than 10 minutes of his time.  The specialist stated in front of my son that he had SD, he would lose his remainder central vision within 2 years and that there was No cure or treatment available and ushered us out of the office.  I couldn’t believe it, we had just been told something that was life impacting and we were given No explanation of the disease, No direction, No advice and definitely No compassion.  He wiped his hands of us and with the few questions I could throw in, I was told repetitively, “why bother…there is no cure or treatment”  To say I was angry, was an understatement!  At the very least I would have expected a referral for some counselling and the Assoc for the Blind.  To this date, I still don’t have any written confirmation or explanation of the disease or Lukes results.


I was assured by another mother, that once we stopped dealing with the specialist appointments, things would become easier…she was right!  The Assoc. for the Blind was truly wonderful and we set about organising his needs for school.  Instead of feeling totally helpless I was now busy and doing something constructive, researching gene therapies, nutritional benefits, do’s and don’ts etc.  SD consumed my every moment!  I believe knowledge is power and I wanted to know everything about this disease.  I did a crash course in opthamology trying to understand the terms, acuity results etc.


Numerous times, we changed our minds about trialing the Echo Therapy but given the prognosis and the rate that we were losing vision (a line off the eye chart each month over 4 months) we figured we had nothing to lose..After finding a doctor who would allow us to trial it for one month (this wasn’t such an easy task) we commenced the drops mid December 2006 after having baseline measurements done for comparison.  This was possibly one of the scariest things I had every done, putting something into my son’s eyes I knew very little about and without any medical backing.


Two weeks before Xmas we had our last appointment and I vowed we would forget about SD for a while and enjoy the festive season, the previous months had been totally overwhelming.  The sadness was slowly passing and we were assured that it wasn’t a case that he couldn’t do things, he just had to do some things differently.  This was a wake up call for all of us to appreciate what we have and to make the most of every day.


Jan 07 – Our 1 month follow-up.  Lukes vision has stabilized.  We have not lost any more.  Luke has noticed in increase in brightness.  This is encouraging, and we are willing to trial it for 6 months.  Is it the drops or just the normal progression of the disease?????  Who knows?????

Feb 07 – Lukes vision has still stabilized and he is able to see the blackboard better.  He is finding it easier to read normal print text books that he could not read a few months ago.

March 07 - I don’t really know what “Echo” drops do but I am very happy with the results.  Luke has been using them for 3 months now and  although it wasn’t immediate, we have all noticed big changes in the last 2 months.  His acuity test readings remain the same although easier for him to view (unchanged for 3 mths) and yet he is reading novels that he could not read 3 months ago, he no longer has his nose on the carpet to play with his lego and can read most of the work from the blackboard (again, something he could not do last term).  I am aware of the pinpoint effect on his pupils, and if that is all these drops are doing by constricting his pupil and helping him to focus then I’m fine with that…in a nutshell he has a better quality of vision than he had without the drops.  I also appreciate that with the stability of his vision, he has learnt to use his eccentric vision more effectively.  He has put the magnification tools aside for the time being and his moral is at a high point.  The “haze” or “vague” look in Lukes eyes is no longer evident to me and when I see him competing in a BMX race I forget for a moment that he even has SD as there is no outward evidence of him having a visual problem.

He is becoming a wiz at touch typing, something I feel that will be very useful to him in the future.  We have put Braille tuition on hold and will review our needs for it in the following months.  Luke is taking Bilberry & Anti-oxidants and have just commenced taking a child friendly form of Omega-3.  We are still waiting on our appointment for genetic testing (waiting on arrival of cheek swap kits).



 Tanya 2007


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