Freddie's story dwarfism - Genetic DisordersJeans for Genes

Freddie's story

WHEN expectant mum Monica popped along to her 34-week scan at her local hospital she thought she would be told her baby had an infection, nothing more.

But as the ultrasound probe swept across her tummy it revealed the child’s bones were much shorter than normal and his head was considerably larger than it should be.

Her worried doctor made arrangements to send her straight to King’s College Hospital in south London for tests. It was then the word “dwarfism” popped into Monica’s mind. She froze.

She says: “It was an instant grief. I almost didn’t want to be pregnant any more. Suddenly I couldn’t imagine my baby. He wasn’t going to be normal. I was in shock.”

Three years later her son Freddie is living with the genetic disorder achondroplasia, one of over 600 forms of dwarfism. But Monica has transformed from a terrified mum-to-be to a passionate advocate for her beautiful boy.

The 41-year-old travel agent, from Sidcup, Kent, says: “I knew nothing about dwarfism when they first confirmed his condition, I was scared and upset but now I feel that however short he is the sky’s the limit for him.”

Monica, married to Justin, 48, also a travel agent, had already had three-year-old George when she found out she was expecting Freddie. Her pregnancy was straightforward until medics noticed kidney problems at her 20-week scan.

She says: “The kidney was enlarged and they suspected an infection and asked us to come back for a 34-week check.

“When they started talking about the shortness of his limbs I was the one who asked: “Is it dwarfism?

“They told us not to worry and sent us to King’s. We stopped at home to drop George at a neighbour’s and I Googled “short bones”, the word ‘achondroplasia’ came up. I was devastated. In the pictures all I saw was dwarves. I thought dwarves were born to dwarf people. I’ve since learned 80 per cent are born to normal height parents.

“I almost didn’t want to be pregnant any more. I didn’t want to have the baby any more in the sense that I didn’t want to be at King’s, I didn’t want to hear what they had to say.

“Justin was as shocked as me but by the time we got to London he was already saying: “It’s our baby. We will love him.” He accepted the situation much quicker than I did. He was my rock.”

The hospital confirmed Monica’s suspicions of dwarfism that night.

She says: “I remember them telling me there are three forms of dysplasia, the first is lethal, the second you can survive but it doesn’t mean a good quality of life. The best by far is achondroplasia. It didn’t feel the best case scenario to me.”

In the six weeks until Freddie’s birth Monica’s pregnancy became more difficult. She travelled to King’s for tests every week. Excess amniotic fluid formed around him – a symptom of his condition. It meant a high chance his umbilical cord could wrap around his neck.

Monica recalls: “We started telling friends. It felt like a confession. Justin’s sister travelled up from Devon to be with us for a week. Friends came and went, they brought flowers as if I had lost the baby.”

But then something happened that changed Monica’s attitude.

She says: “We found a video on line. A couple from Australia who had just had a child with achondroplasia had created a film for their friends set to Bonfire Heart by James Blunt. The video explained to their friends the facts about the condition. That was the turning point for me. There was someone else out there who had been through this.

“People kept saying: “Oh, you must be so worried. What do you call him? They were trying to be positive but everything they said came out wrong. In the end I stopped talking to people about it.”

Freddie was born by Caesarian section because of his abnormally large head. He weighed 8lb 3oz.

Monica says: “As they showed him to me all I could see was this beautiful face. He had lips and a nose like his brother’s. Then he opened his eyes and the most beautiful blue eyes stared up at me. I was fixated on their beauty not his short limbs. My husband fell in love with him.”

In the days and weeks after Freddie’s birth it became such a struggle to feed him that Monica stopped thinking about his dwarfism.

Shy says: “He had terrible reflux, we were in and out of hospital, then they readmitted us.  I remember thinking: “I don’t care he’s got achondroplasia I just want him to eat.” His weight dropped to seven pounds.

“At five months old he almost looked malnourished with this big head. We went on holiday to Devon. The day after we arrived he was admitted to Bristol Intensive Care Unit with breathing problems. He was in hospital for three weeks. We nearly lost him twice. His lungs went, everything.”

Freddie contracted Respiratory Syncytial Virus (RSV), a lung infection that causes severe breathing problems. He was transferred to the Evelina Children’s Hospital in central London and spent 11 days on a respirator.

Monica says: “The first year of his life was really tough. We were in a bubble, He didn’t hold his head up. he didn’t roll over, nothing.

“My husband changed his job so he could spend more time at home. The appointments took over, Freddie has had two or three operations every year of his life. He’s seen opticians, ENT specialists, respiratory doctors, he’s had sleep studies, MRI scans, grommets. He’s only three.

Monica sees a change in her son now, though. She says: “As he gets older he gets stronger. He can eat now which means I can take him out more. He has a childminder who loves him like one of her own and he’s started nursery one day a week. They adore him and fight over who’s going to look after him. We plan for him to start pre-school in September.

As Freddie gets older the issues the family face change. Monica worries about bullying when he’s a teenager but says she will equip her son to be as mentally strong as he can be.

“When he starts school I will write a letter to all the other parents explaining dwarfism. Hopefully if they explain it to their children there won’t be any issues or curiosity. He’ll just be Freddie.

“We have to stop George’s friends from babying him otherwise he’ll never be able to look after himself,” Monica says. “George is great with him and understands the condition. He is honest when his friends ask difficult questions, like ‘why does your brother have a special chair?’ He answers: ‘Fred has special bones’.”

“Since joining a couple of groups on social media we have found so much support from parents who have been in our shoes. Their support and experience has been invaluable.”

Monica has found herself becoming an expert in Freddie’s condition. She says: “I have given advice to therapists when they first meet him and don’t know much about him, like propping him on pillows because of his lung problems. There are new bone-lengthening treatments that I have researched.

“I have even started to advise other newly-diagnosed mums about achondroplasia now. It’s the best thing to be able to tell them not to worry, it’s going to be alright. I love being able to give that hope.

“We chat on social media and share stories. No question is too stupid or judged.”

This year the family plan to take part in the Dwarf Association Games in Birmingham. Monica smiles: “He can’t even walk yet but he’s going to go.

“Aim for the stars, that’s our new motto.”