Category: Parent stories

A guest post from Sara’s Mum …

This is my daughter Sara. She’s 17 now and born with albinism and nystagmus. Her sight is badly affected, but nothing stops her!!! She is in mainstream school, a huge circle of amazing friends and lives for sports. She has an all Ireland silver medal for camogie (an Irish sport) she plays rugby and Gaelic and is a coach for children in sports. Her next venture is to navigate in a tarmac rally with her daddy next month. She is a very positive and amazing child (in my eyes). Just posting this for all the new parents out there who may be worrying a little xx

Like lots of children, Macy has nystagmus as well as more serious health problems. Here’s her story, as told by her Mum …

In January 2016, Macy our baby girl suffered a sudden out of hospital cardiac arrest at 3 months old. After being resuscitated twice, once by paramedics at home and again at Wigan hospital, she was transferred to Alder Hey Children’s Hospital in Liverpool. The following hours/days/weeks are mostly a blur. 

Macy was so poorly, she spent time in isolation in PICU, with one to one nursing care. At the worst time in our lives those nurses/consultants were exceptional. She then spent weeks on the cardiac ward, which was probably harder than PICU as she was conscious and in pain and it was just unbearable. She was subsequently diagnosed with Dilated Cardiomyopathy, Cone-Rod Dystrophy and Nystagmus.

Macy is still seen regularly at Alder Hey by a cardiologist, neurologist, ophthalmologist…the list goes on.

After genetics testing, Macy has since been diagnosed with an ‘ultra rare’ disease called ALSTOM Syndrome, which is an inherited autosomal recessive syndrome characterised by the onset of obesity in childhood or adolescence, Type 2 diabetes, often with severe insulin resistance, dyslipidemia, hypertension and severe multi-organ fibrosis involving the liver, kidney and heart. Alström syndrome is also characterised by a progressive loss of vision (Cone-Rod Dystrophy) and hearing, a form of heart disease that weakens the heart muscle (dilated cardiomyopathy). This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.

Nystagmus is just one of many of Macy’s symptoms, but she doesn’t let any of them stop her!

A nystagmus Dad writes:

Michael is 19. In 1999 he was diagnosed with congenital idiopathic nystagmus at around 3 months of age. We immediately did an internet search to find out what nystagmus was. I couldn’t even spell it properly, but within a short time we found Nystagmus Network. This turned out to be a huge benefit to us. We were put in touch with people with first hand knowledge of the condition. I’ve still got my notes from my initial conversations with Katy and Claire and the messages we received from John, Sue, Vivien and all the team after becoming members were most reassuring. We attended Open Days and our understanding grew. In terms of raising awareness and helping us come to terms with it, Nystagmus Network really hit the mark.

It was through the charity that we learned of Professor Irene Gottlobb and her team at Leicester Royal Infirmary. We secured a referral and Michael had countless eye recordings with Rebecca McLean, tests, clinical visits and an operation to partially correct his null point.

As Michael grew up we noticed how little his condition seemed to affect him. He was always a good athlete, playing junior football from age 5, was in the Cubs and Scouts. He swam competitively. Nystagmus didn’t seem to hamper him. However, looking back, this was masked by his ability to adapt. He struggled with fast moving ball games like cricket and badminton and the concentration required when reading. Doing his school work greatly fatigued him and studying still does. All through his school years he received terrific support from his SENCo, who became a real support for his Mum and me. We cannot thank Marie enough for her support for Michael during his time at junior and senior school.

We were all so proud of Michael when he achieved stellar results for his GCSEs and then his A-levels. In 2017 he was accepted by St. John’s College, Oxford where he is just finishing the first year of his Physics degree. He thoroughly enjoys being at Oxford, plays football for the college and fully participates in all the ‘liquid’ social events intrinsic to college life.

Michael’s success is due in no small part to the dedication and hard work he puts in, which takes a lot of effort due to his nystagmus. He has natural ability and great focus (no pun intended) and this has enabled him to overcome his disadvantages. The extra time during exams was essential to him at school and now at Oxford. He has been lucky. His condition could have been far more severe, but he has worked within his limitations to achieve the best he can. Long may it continue.

He passed his driving test in 2017 – which was the one thing we always wondered about. He has to be careful driving at night and he will never be a racing driver, but as long as he can get from A to B safely, to enable him to get on with his life, that’s all we can ask for.

I hope others may find some inspiration in Michael’s story. He has had to accommodate a severe disadvantage, but, essentially, it hasn’t held him back. He has exceeded all our expectations. The measure of that is not a place at university, but that he has simply got on with it and done his best.

A Mum’s story:

Denni-Leigh was born weighing 5.15lbs on a sunny June morning. She was a perfectly beautiful newborn baby. Only at about 4 weeks old the health visitor noticed that something was wrong with her eyes.

We were told that Denni-Leigh had congenital nystagmus, astigmatism and a squint and was extremely long-sighted. Being such a young mum and not understanding anything that they were saying to me, I was very confused and very shocked. As we went on going to more and more appointments we were told that Denni-Leigh would not be able to live a normal life and do the things other children do, like ride a bike, learn to read, go to mainstream school.

But my beautiful little girl just sat there smiling and that gave me the strength and the determination to make sure she wasn’t treated any different. So she started mainstream school, a little bit behind everybody else, but she was never put off by anything. She learnt to ride a bike at the age of 7. Then came the decision to send her to mainstream secondary school. I’m so glad I did. She has gone from strength to strength and has proved everybody wrong and is now sitting her GCSEs. One day she would like to be a lawyer and change the way people think about people with visual impairments.

She is registered as visually impaired, but that has not put her off doing anything if she puts her mind to it. She will get there in the end. If anyone asks her about her eyes, then she proudly says, it’s just me, I have wobbly eyes. She is the most amazing, kindest and most caring big sister to her 5 little sisters. I am so proud of the beautiful young woman my daughter has become and it’s an honour to be her Mum.