Let’s talk about Matthew!

4 mins read

Thursday 14 September 2023

Tags: Rare Condition Conference 2023, Children with a rare condition, Getting Together For Rare

Matthew and family

As we approach our Rare Conditions conference on 4 October we share the perspective of Nigel Nicholls, a father caring for a child with a rare condition.

Nigel will be talking at our October conference. Parent carers of children with a rare condition are invited to join us

“Fatherhood is one of those momentous points in your life when you are awed by the miracle of birth. You know it will be life-changing – but I didn’t know how life changing it would be until Matthew came along. So, let’s talk about Matthew.

“Sophia, my wife had been carrying Matthew uneventfully for nine months and finally the day came at Eastbourne General Hospital when Matthew was born. Our natural reaction when we meet someone new is to look into their eyes but as soon as I looked into Matthew’s, I knew something was wrong. Both were closed and the one on his left side was sunken into his skull as if there was nothing there.  It’s hard to relate, but you can imagine how excitement in one moment turns to uncertainty and fear for the future in the next. I can still remember sitting in the hospital room in those early hours recognizing that dreams and reality had collided.”

Contact was able to support us right at the start of our journey

“Matthew was diagnosed with a condition we had never heard about, Peter’s anomaly. We were told nobody really knew much about the condition or its prognosis.  The one thing we did know was that he would be blind with potential significant neurocognitive impairments.

“As Sophia and I left the hospital we looked on the doctor’s notice board and saw a poster about Contact. This turned out to be a life saver as they were able to support us, and sign-post us to other groups right at the start of our journey. I have so much respect for what they do that I served for some time as a trustee and I’m still currently a Patron of Contact.”

Matthew inspired me to change my life!

“Matthew’s birth in 1996 was the catalyst for me to look at my own life and I vowed to work for companies who would give hope to people living with rare diseases. Within 6 months I was employed at Orphan Europe, a company that specialises in bringing drugs to market for rare diseases.

“I now serve as the global patient advocacy lead for Egetis, a Swedish based biotech company focused on creating a better future for those living with rare conditions including MCT8 deficiency  – an ultra-rare,  genetic condition which leads to multiple symptoms such as neurocognitive impairment, muscle wasting, lack of weight gain and elevated heart rate and blood pressure problems. The condition has a profound impact on both people living with the condition and their carers  from birth. Find out more about World MCT8-AHDS Awareness Day on 8 October.

“Matthew is now 27 years old and living with carers in a residential setting. He still continues to love music, trips out and being with family. I hope the pictures show a young man living and loving life in spite of the many challenges behind and in front of him.

“I am acutely aware that I would not have this role and platform without Matthew and always pay tribute to him for inspiring me to be better. If it helps someone else be motivated to make a difference, I’ll continue to keep talking about Matthew!”

Find out more about our support for families living with a rare condition.

Take a look at our tips for fathers caring for a child with additional needs or download a pdf of our fathers guide.