This list from Nichola Garde is just marvellous, I almost don’t want to spoil by giving away too much in the introduction. Let’s just say it flipped over my ideas of what it means to be ‘different’ and left me with a lovely sense of optimism.
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Life with achondroplasia means that I stand at 4’2 at 40 years old.
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Anchondroplasia is the most common form of dwarfism.
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Typically, babies with achondroplasia are born to average height parents and it’s a random genetic occurrence (around 1 in 25,000).
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However, there are many families like ours, where both myself and my husband have achondroplasia.
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I met my husband 16 years ago, we live just outside Manchester with our two daughters, Ava who is 8 years old and has achondroplasia and Eben who is 5 and does not have the achondroplasia gene.
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Life for us is pretty much like all families, we are juggling kids, work, school.. having dwarfism means we have to find a different way around things, as the environment is not always built with us in mind.
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I’m very proud of our identity. Both my daughters are very privileged to grow up in a diverse family and it offers them so many opportunities and experiences.
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When our first daughter was born we were delighted to find that she had inherited our condition and had Achondroplasia; the most common form of dwarfism.
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Achondroplasia is a genetic condition that results in dwarfism. Our arms and legs are short, whilst our torso is average.
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My husband and I knew how great life could be for her and although there would be some stumbling blocks she would find her place in the world and belonged here. Eight years on and she is proving that every day.
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Three years later we were expecting again and waiting the results of genetic testing to rule out the lethal condition of double dose Achondroplasia
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This unfortunately means the pregnancy does not continue or the baby does not survive beyond birth.
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We had been here before and on our journey to start a family had experienced this awful outcome.
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We had lost three pregnancies before our eldest Ava was born each to double dose achondroplasia.
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You find out during a 11 week CVS test that the baby has inherited both your genes and will not survive.
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Genetic counselling and a lot of crying, ranting and talking was the only thing that got us through.
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So we were delighted and relieved to find that this pregnancy did not have double dose however there was a twist – she did not have Achondroplasia either.
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Our baby was going to be born, what we call ‘average height’ (no genetic condition).
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On hearing the news my mind raced for a second. My first thought was ‘how big?! My husband is Danish and although he stands at 4’6 the rest of his family are huge!
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I had visions of carrying around this giant toddler or actually maybe that toddler carrying me around!
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I knew that I loved her so much and my biggest fear was I wanted her to always know that and never feel different from her parents and sister.
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We were not the first family and we will not be the last.
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The chances of a couple with achondroplasia having an average height baby is 25% based on 50% chance of having a baby with achondroplasia and the other 25% unfortunately being the double dominance.
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I reached out to other families for advice they were very supportive and mostly the advice was to; relax and everything was going to be great – they were so right!
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A message that really stuck with me and became our mantra, was from a mum with dwarfism who shared how she explained genetics to her own daughter;
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It was just one gene that was different between ourselves and our daughter. We had so many other genes that we have in common.
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It’s important to remind our children of all the things we had the same.
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From a young age my daughter and I would be walking to the shops or playing in the park. We would have casual conversations regarding mummy being a small mummy and how she was going to be bigger than me when she was older however she would look so much like me because of our other genes; we both had brown hair, brown eyes. And how she was left handed like daddy.
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At the time it felt like it was more for my benefit, she was far more interested in playing than listening to me drone on.
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Last September she started school and like every parent I was worried, hoping that all the life skills we had tried to encourage, such as kindness, empathy and strength would help her navigate through the day.
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She settled in well and ran in every morning and out every afternoon smiling and happy.
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Scooting home one day a new friend asked her; ‘why her mummy was small’ She stopped in front of me and I strained to hear her reply;
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“My mummy, daddy and sister are small because they were born that way. I was born with long legs so I’m going to be bigger but I have brown hair and brown eyes just like my mummy” she answered smiling.
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The boy smiled back and then challenged her to a race on the scooters.
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Without realising my daughter had created awareness and shown that like her sister she was here to make a difference.
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