People with Alström Syndrome

This section is written by people with Alström syndrome, or their families. In some cases we have changed names.

Sean Waiting

I was born on the 9/10/1969. I went to St. Vincent's School for the Blind in Liverpool. At the age of 12, I was diagnosed with Alström syndrome and doctors thought I was the only one in Britain with the condition.

In 1986 I went to Henshaw’s Independence school in Harrogate.

In 1990 I came home to my mum and dad. In 1999 I met a friend from RNIB who was working with Mathew Parkinson [son of Kay Parkinson on AS UK staff]. Matthew asked if he could be put in touch with me, I said yes, and then Kay and Charlotte Parkinson rang me at home before I went to [meet them] in Torquay.

I have been on the AS UK board of directors for 3 years taking up the Editor of the newsletter and the young adult patients’ posts.

Amy

Amy was born on 5th July 1984 weighing 5lb 10ozs, apparently healthy in every way. During Amy's first few months of life I began to notice a very definite aversion to bright lights and more noticeably a flickering of the eyes followed very quickly by a nodding head movement. I immediately took Amy to our new G.P., Dr. Zacharia who was very concerned and referred Amy to a doctor at our local hospital in Milton Keynes. She informed me that Amy had NYSTAGMUS which was apparently quite common in young babies, as for any other problems with her eyes, I was being ‘neurotic’. Nearly six months after this Amy developed gastroenteritis and after being told that Amy was suffering from teething problems she became dehydrated and was admitted to hospital. During this time the doctor who diagnosed the nystagmus visited Amy again and on walking into Amy's room commented on the low level of lighting and immediately switched on the overhead lights. Amy’s reaction was instant and from that moment on she realised there was a problem and referred us to a Dr. Fielder in Leicester, from there Amy was seen at Great Ormond Street Hospital. Here they just confirmed the diagnosis of CONGENITAL ACHROMITOPSIA WITH PHOTOPHOBIA AND NYSTAGMUS. I was told that Amy would be partially sighted for life but it was highly unlikely she would develop any further problems.

I then decided to move back to Leeds to be near my family and Amy was referred to a Consultant Clinical Geneticist in the local health authority, this was in 1987, Amy was 3 years old. The geneticist confirmed Amy had a congenital eye condition and a letter received from the geneticist stated that no follow ups would be made.

When Amy started a local primary school I then realised that she was developing hearing problems as well as during mobility training her instructor said she was developing a curious gait to her walking. I mentioned this to the school nurse because I was also beginning to be concerned with Amy’s weight. It was to be a long time before anyone realised that there were problems that needed investigating. Again I was being neurotic.

I did get Amy seen at a local clinic and after many hearing tests in totally unsuitable surroundings for a visually impaired child Amy was diagnosed with PERMANENT SENSORIAL HEARING LOSS on 22nd February 1993. Amy was now 8 years old. She received her first hearing aid when she was 9 years old.

In January 1994 I became so concerned about Amy’s weight I phoned the local health clinic and asked to be referred to a dietician, we visited the clinic on a regular basis but no concern was shown as to the reason why a young girl on a healthy diet who enjoyed physical activity should not be loosing her ‘puppy fat’. I gave up going in August 1995 as I felt it was a waste of time. During all this time I was still expressing concern to the school nurse as to Amy’s way of walking.

Eventually in October 1996, Amy is now 12 years old, we received an appointment to see a Consultant at St. James’s Hospital and after several tests we were given a diagnosis of NEUROMUSCULAR SCOLIOSIS, by this time Amy had developed a significant curvature of the spine.

Two years after this she started to suffer from Thrush and over a period of time was given several different creams by our G.P. to relieve the condition. In September 1999 I remarked that this had gone on a long time and a urine sample was taken. Amy was then referred to Leeds General Infirmary and diagnosed DIABETIC and immediately put on Insulin.

During Amy’s fifteen years of life no-one had investigated that fact that she was developing so many different conditions. It was at this point that we met Dr. Holland who deals with Paediatric Diabetes in Leeds General Infirmary. After meeting Amy he expressed concern and now for the first time I was asked to voice all my concerns about my daughter, which now included skin problems and lack of periods. Dr. Holland went about referring Amy to several different paediatric consultants. This led to an appointment with a geneticist in St. James's Hospital where we were given a clinical working diagnosis of Alström syndrome.

What amazes me about all this is that if my daughter had not been one of the Alström sufferers to develop diabetes we would not have met Dr. Holland, or made contact with Alström Syndrome UK, and may never have been aware of the syndrome and its effects and consequences. Surely in this age of advanced technology a child should be monitored as a whole person and a holistic approach taken for their care, and not as in Amy’s case each symptom seen in isolation and treated by different doctors with seemingly no communication made between them.

POST DIAGNOSIS OF Alström syndrome.

Since receiving the diagnosis we are still experiencing difficulties within some areas of the health system.

Amy was seen by a cardiologist in early 2001 who stated that she had at that time no problems concerning Cardiomyopathy, another manifestation of this syndrome. With this in mind he didn't want to seen Amy again for about three years. This concerned me greatly.

Amy was told only recently that she had a tumour on her liver, this was discovered over a year ago during an MRI (Magnetic Resonance Imaging Scan, we were not told of the tumour. Amy then went on to be prescribed a medication that could have resulted in internal bleeding.

JJ

5th December 05
JJ was born (normal as it goes with birth)

Around 16 weeks old
Was admitted to hospital with dilated cardiomyopathy

Around 20 months old
Eyes started to wobble (Nystagmus

Spoke to health visitor was told like James Galloway (was given impression not a problem) around the same time my relationship broke down due to pressure of JJ’s health. Moved to Hampshire nearer to my sister for support and registered with local Dr who referred us to local paediatrician at hospital

Around 7 months
Had appointments for a Cardiologist and a eye lady (both based at hospital)

Around a year and a half
I started to ask the question why all this was happening. As JJ hadn't walked or talked. Was ref to Local preschool for children with special needs In reply to question why was sent to have a blood test for chromosome, MRI scan, lumber puncture and a brain wave test to see activity from eyes to brain. All back normal except brain wave test . Conclusion bad luck

Around 2 1/2 yrs old.
Started to walk with the help of a K frame. JJ’s weight piling on felt like people thought I fed JJ 24/7 . Went to see dietician. She couldn't except what I gave him to eat. Didn’t go back. Also I brought up the fact that JJ was late walker not talking yet with paediatrician. Was told boys are always slow

Around 4 1/2
Teacher at pre-school doing a course in hearing and blindness. She back dated RNI magazines and came across an article about Alström syndrome (which she gave to me). Rang the support group and info sent to me Went back to paediatrician with info was told probablynot. Even with a picture of the double of my son. A week or so later he got back to me to say there was a slight possibility and would refer us to genetics. I wanted to go to GOSH (Great Ormond Street Hospital) as a eye lady there would be able to tell us through the eyes. Ended up going to local genetics who thought it was it and did the referral to GOSH It was confirmed..... At last someone listened to me!!!!

Around 5 yrs of age.
Gave all the information I had on Alströms to paediatrician. But was told it was written by the Americans, and they tend to go over board...... Still so frustrating no one hearing me medical wise except for AS Doctors

October 2000
Our first AS conference in UK. To meet people who knew how I felt what a relief. Hearing problem picked up. Hearing aids both ears given locally

Still battling with medics

End of 2001
Liver problem arises. I wanted JJ to go to Birmingham Liver unit. Paediatrician wanted to do it himself with Birmingham overlooking it. I said NO as it was a specialist problem.

2002
Off to Birmingham Hospital . Biopsy taken and camera down the throat found big problems.

2003/4
Light at the end of tunnel. Because of British Dr writing papers and JJ’s blood test results to back up what is being printed about AS our Paediatrician is coming around and taking on board what this syndrome is about. I have a lot more say and he takes it on board.

Kevin Goodwin

Hi everyone, I'm Kevin, born 16 June 1973, in Congleton, South Cheshire. I lived in that area until the age of 7, having spent my first couple of years schooling in mainstream primary. I then went off to a school for the visually impaired in Coventry (Exhall Grange). At that time, I had some sight; the school didn’t take any totally blind children until much later.

I stayed there for 10 years, until I turned 17. Then I left, at the end of my GCSE year, and went off to Hereford, to attend a residential college for the blind, RNC (The Royal National College for the Blind). I spent 3 years there, gaining a few more qualifications, though no specific job training.

When I left college, I moved to London, where I lived in a hostel for the blind for a few months before moving to my current home in Cardiff. I’ve lived here alone now for 13 years and don’t currently work.

I was just a baby (not sure what age) when it was discovered that I had problems with my eyes. One of the things noticed was that my eyes would move rapidly, especially when there was an argument going on. So I was diagnosed with Ocular Albinism (wrongly, of course). On a second visit to the hospital, my mother was told that it was my ears causing problems, but my mum disagreed, saying it was definitely my eyes. So the hospital then concentrated for some time on my eyes. I don't really know when it was discovered I had a hearing loss, though I can remember being quite young and being asked how I'd feel about hearing aids. I said no, I wouldn’t wear them. To me it would be something else for people to focus on, something else different about me.

Return to my eyes: I was at school in Coventry by the time my sight really began to deteriorate, and it was established that the deterioration was far too swift for Ocular Albinism. So, off to Birmingham Children’s Hospital for tests and re-diagnosis. By this time, I was what I’d consider totally blind. All that was left was a level of light perception.

The diagnosis given to me was Retinitis Pigmentosa (RP) Inverta. I guess the Inverta was because my sight had gone in totally the opposite way to regular RP sufferers. Deterioration from the front was far more severe than from the sides. and I could see at night far better than in the day. This was all until I was about 12 or so.

So off I toddled with my new diagnosis, all happy until seeing specialists here in Cardiff. The hearing specialists here started talking about Ushers as being a possibility because of the joint sensory loss. However, when we looked at the different forms of Ushers syndrome, none of them seemed to fit my situation. So they sent me over to the Ophthalmic Department, where I went through more tests. They started suggesting it could be a form of Lebers Amaurosis. Apparently some types concern dual sensory loss also.

I was diagnosed diabetic in September of 2000, and I was immediately put on tablets. This was fine until 3 years later, when I ended up in the hospital, where I was assessed and put on insulin injections. Another 12 months, and I was back in the hospital for a re-evaluation. It was determined that my cholesterol and sugar levels were both extremely high. I'd become immune to my insulin, but a change of medication has done reasonably well since.

My desire to find out if I could pass any or all of this on to any possible children was what really got me a proper and final diagnosis for Alström Syndrome. I had interviews with the genetics department, who then worked closely with the eye department to try and figure out what was wrong. When I first saw the eye specialists, I apparently had cataracts on both eyes. These were removed to see if I could even get a greater level of light perception. Sadly, this wasn’t to be. However, photos were taken of my retinas and sent, with my permission, to specialists around the world to see if they could come up with any good ideas as to what may be wrong. It was apparently a suggestion made by one of these specialists, possibly in the US, that made the Genetics department send off blood they had stored for me, to get it tested in Leeds for Alström’s Syndrome. The results came back around February this year, and finally we know what is wrong and how likely it is to be passed on.

It's taken 33 years for me to get a final diagnosis. I guess the nicest thing on a personal level (except that I now know for definite what it's all called), was that it brought everything together. It made my being fat not quite so bad because there was finally a reason for it. I hope that the young people being diagnosed with Alströms today don't have to go through the constant diets that I was put on at school that never did anything to help me lose weight. I hope the young today with Alströms can find a more comfortable way of gaining a better life than maybe people of my generation did because of the ignorance.

Finally, I hope that, having been asked to join the Board of AS UK that I can help make that future for young Alström patients easier, and maybe even bring some understanding to the parents. Mine will never understand now, and that is sad, but I believe I’ve coped reasonably well with everything that's been thrown at me. This maybe questionable, as I've spent the last 10 years or so battling with depression. I don’t think much, if any, of that is down to my life with Alströms, but who knows, and maybe it’s something I will discover in the future, with help.

Thank you all for reading.
Kevin Goodwin

If you wish to talk to someone who suffers with Alström’s syndrome, but don’t feel able to discuss it on the mailing list, please feel free to contact Kevin. Either by email or by phone 029 2002 6251. Though Kevin doesn’t currently suffer with either cardiomiopathy, or renal failure, he would be happy to listen to any concerns, and if you wished find others with those conditions that may be able to help.

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