CHRISTINE’S STORY

In 2007, we welcomed our first son into the world after a healthy pregnancy. On our visit to the hospital to see the maternity ward, we were shown all the equipment to help bring your baby into the world safely. The midwife pointed to an emergency bed and alarm and said: ‘you will not need this, ladies’. However, our worst fears came true. When James was born he was not responding and purple. The alarms sounded, nurses and doctors came from everywhere to help him. Eventually he made a small noise and the relief lifted when he was handed to me.

Days later, we brought him home to be met by physiotherapists and had appointments to see paediatricians. Being our first child, we had no clue if this was normal. James’ hands were the trigger for this as they were wind blown, extremely tight and fist-like. Who knew this was a symptom of a rare disease!

As James grew, people became more concerned. We were told he had ‘Global Development Delay’ so we travelled the country to see various specialists. We were given potential diagnoses but it was never what they thought.

Three years passed and we were at another appointment to be told we would be invited back, maybe in three years’ time, to see if any further research was available to help them find what was wrong. Halfway through the appointment, a professor entered the room and began listening to our story. He asked for tests to be taken and for James to be tested for Mental Retardation Syndrome!! (Now known as L1Cam syndrome), he had recently read a journal that triggered this request.

Two weeks later we were back to see our paediatrician, I was alone with James as hospitals had become our normal! Immediately he asked if I was alone, then I knew they were about to confirm the diagnosis we had been dreading.

LEARNING MORE ABOUT MASA SYNDROME

The testing showed James had L1Cam syndrome, James’ variant was MASA Syndrome (Mental retardation, Aphasia, Spasticity and Abducted hands). He also had agenesis of the corpus callosum. The consultant was lovely but with little research, knowledge or experience of these rare diseases. We were told the following: he may never walk, he may never talk, it’s likely he will have no understanding of the world around him, he may have problems feeding, he will likely die young, possibly as early as three years old.

My response was: ‘he is three years old now!!’

As the days went by, we started to read more and found it is an extremely rare disease that presents in boys (50:50 chance) and it is passed on from the mum.

The weeks rolled on for me to find I was the carrier of the disease and passed it onto James. The guilt was unbearable. We experienced a number of miscarriages that were put down to L1Cam syndrome but in 2011 Harry was born.

OUR SECOND CHILD

As you can imagine, I was placed under consultant care and monitored closely. We were offered many tests, we found out at around 15 weeks that we were having a boy. We knew our little boy had a 50:50 chance of having the same syndrome as his brother. We were offered a termination which we strongly declined. We knew how happy James was and we could not take that away from our baby.

The consultant said to us ‘Is it because of your religion? How are you going to manage potentially two disabled children?’ Our reply was: ‘We will cross that bridge when we come to it’. We were offered lots of testing to determine if Harry had the syndrome, but we took the decision to decline everything. We knew we were going ahead with the pregnancy regardless, so why risk tests when what will be, will be?

Harry was born, and this experience was very different to James, he cried and was moving well. However, he had the same hands as James. We knew immediately he had the rare disease.

Weeks passed with more tests and we were given the news Harry had exactly the same diagnosis as James.

MOVING ON

Life continues being a rollercoaster, filled with health, social care and educational appointments. We could open our own equipment store with the number of chairs, splints and aids we have.

But what life has taught us is that regardless of a diagnosis and what people say, our children are defined by their personality, determination and love they share. They are now 13 and nine years old, they CAN:

  • Talk (and don’t we know it!)
  • Have full awareness of the world around them
  • Walk, with aids, but they can walk
  • Enjoy their food immensely

With motivation and determination, they have explored the world – America, Egypt, Italy, Spain, Turkey and more! They take part in outdoor activities: climbing, zip wires, canoeing and more…

Yes, we have to adapt and maybe it’s hard work but the end results are priceless. We could have given up on them years ago, accepted what we were told, and ‘enjoy them while here’.

However, we had different plans. James and Harry will continue to be active members of our community, have opportunities like their peers and live the happiest, most engaging lives possible. Although more research and awareness raising is needed to support families affected experiencing L1Cam syndrome.

Don’t give up because of what someone said. Use that as motivation to push harder.

We have set up L1 Cam UK to help raise awareness and share our stories, for more information please visit our website here.

TO LEARN MORE ABOUT PEOPLE LIVING WITH RARE CONDITIONS, WATCH THE UK’S OFFICIAL RARE DISEASE DAY VIDEO. IF YOU WOULD LIKE SHARE YOUR OWN EXPERIENCES, PLEASE EMAIL [email protected].

Remember to vote for your favourite...