You could be forgiven for thinking ‘Why us?’ if your child is diagnosed with a rare disease. For some rare diseases there is only currently one reported person with the condition, for others the likelihood of having the condition can be anywhere from 1 in 200,000 to 1 in a million.

But with over 6,000 rare diseases, the Global Genes Project estimates that over 300 million people worldwide are affected by a rare disease. That means that approximately 6-8% of the population of European Union lives with a rare disease. Only 400 of these conditions have available treatment and 80% have a genetic component. Diagnosing a rare disease can be a long and difficult process involving many genetic investigations, some families despite many years of testing are still to receive a diagnosis for their child’s condition. Ashleigh and Nick Mitford know only too well the devastating impact that a rare disease can have. Their beautiful first born child Noah lost his life to a rare disease on the 25th January 2012.

It was only following his death that a post-mortem revealed that Noah had Mitochondrial Disease. Noah’s rare disease story began over a year before. Noah’s arrival was much anticipated, not only was he Ashleigh and Nick’s first child, he was also the first grandchild to both sets of grandparents. He was destined to be a very special little boy. Noah’s arrival on the 7th January 2010 marked the beginning of a magical year. His birth was by emergency C-Section but both mum and baby recovered well and Noah appeared to be a healthy boy.

Noah's Story
Noah’s Story

Noah was a happy little boy, content, sociable and always smiling. His family took great joy in watching him meet his milestones and especially enjoying the water, where he excelled with remarkable swimming skills far beyond those expected of a baby his age. At 11 months Noah experienced an unexpected seizure but he soon bounced back and the family rounded of his first year with an amazing first Christmas followed by his first year birthday celebrations. It came as a huge shock when Noah was rushed into hospital with a respiratory virus shortly after his first birthday. He was admitted to Intensive Care. Ashleigh and Nick were told that Noah had multiple organ failure including heart failure. He was clinging to life with his fingertips. Noah was put into an enforced coma.

No one could explain why a simple cold was having such a devastating impact. Why Noah couldn’t fight it off as thousands of children do every winter across the country. After two and a half months of sheer strength and resilience from Noah and tireless care from the Doctors, Nursing Staff and Noah’s family, Noah was strong enough to go home. Noah appeared to be making a full recovery at great pace considering how desperately ill he had been. However, all was not as it seemed.

Noah's Story
Noah’s Story

Later that year after leaving hospital, Noah began displaying autistic tendencies and very worryingly he began to regress in his development, losing skills he had so easily developed in his first years. This time it wasn’t just so easy to re-learn the skills he had lost, despite intensive therapy at home. However, the family were delighted when Noah took his first steps shortly before his 2nd birthday.

While Ashleigh and Nick were working hard to keep Noah well and continue helping him relearn his skills and manage difficult behaviours, investigations were ongoing as to why Noah was not able to fight simple infections. He was tested for metabolic disorders including VLCAD deficiency, which prevents the body from converting certain fats to energy and can cause serious complications like life threatening heart problems. However, this proved negative. Tissue was taken from Noah’s leg muscle to test for mitochondrial disease, a specific and rare form of metabolic disorder. The results from this test showed ‘no evidence’ of mitochondrial disease however the test was not able to conclusively rule it out. At home Noah celebrated another wonderful Christmas and 2nd birthday at home with his family.

Shortly after these celebrations, the unthinkable happened. Noah contracted a tummy bug, but this time he couldn’t win the fight. On the 25th January 2012 Noah died very suddenly of heart failure. Ashleigh and Nick welcomed baby Daisy into the world, just three short weeks after Noah’s death. Noah had one word ‘Daisy’, a word he used to describe anything pretty. Daisy didn’t get the chance to meet her big brother but his memory will live on through her. Around the same time, the family received the news that Noah’s post-mortem through investigations of his heart tissue had found evidence of Mitochondrial Disease. This was responsible for Noah not being able to fight simple infections, his seizures, the regression and his developmental delays.

The condition, like 80% of rare diseases, is genetic and Ashleigh and Nick were advised that Daisy had a one in four chance of being affected. With no way of testing Daisy, her parents faced an agonising wait to see if Daisy had the same life-threatening condition as her brother. 3 years later and Daisy is a happy and healthy little girl and the family are beginning to relax in the knowledge that Daisy has not shown any signs of Mitochondrial Disease in her first three years. However, investigations continue to try to establish the rogue gene that caused Noah’s mitochondrial disease with exome and whole gene sequencing. Ashleigh and Nick hope that the sequencing will help identify if Daisy is a carrier so that she can make informed choices in her future. Noah’s family work tirelessly raising money and awareness of mitochondrial diseases and have raised close to £30,000 in Noah’s memory. In recent news, MPs have voted in favour of making the Britain the first country in the world to permit IVF babies to be created using biological material from 3 individuals to help prevent certain types of mitochondrial disease.

Mitochondrial DNA makes up 0.054% of a person’s overall DNA and none of the nucleus DNA that determines personal characteristics and traits. The House of Lords voted in favour of permitting this technique on Tuesday 24th February 2015. This represents a major breakthrough for families who have been affected by certain types of Mitochondrial Disease and could pave the way to a brighter future for many. Ashleigh and Nick know only too well the devastating impact that mitochondrial disease can have. This technique would not have helped in their situation where the nucleus of the cell was affected. However, they wholeheartedly support these new developments that could benefit over 2,500 families in the UK.

The media coverage of the House of Commons and the subsequent House of Lords rulings has been extensive. Ashleigh was delighted that the spotlight was being shone on Mitochondrial Diseases. However, she warns of the dangers of referring to the technique as ‘three-parent’ children.

Noah with mum Ashleigh
Noah with mum Ashleigh

Families of children who have inherited genetic conditions often suffer from a feeling of guilt that they have been the cause of their child’s disability or illness. I appreciate that this is a headline grabber but we must be very careful of using the term ‘three-parent children’.

It’s not helpful to the families involved and it’s not an accurate reflection of the technique of replacing a very small part of the DNA that doesn’t affect the child’s identity like looks and personality. Biologically 99.9% of the child’s DNA will come from his or her mum and dad with less than 0.1% from a donor with the sole purpose of energy production.’

From From Noah’s Galaxy Fund website. Perhaps they are not the stars. But rather openings in the heavens where the love of our lost ones pours through And shines down upon us to let us know they are happy. Inspired by an Eskimo legend. For more information on Rare Diseases and Rare Disease Day visit - http://www.rarediseaseday.org/ To support Noah’s Galaxy Fund visit - http://noah.btck.co.uk/

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