Our family includes me, Andrea, my husband Ben, our three wonderful children, Freddie (seven), Joey (four) and our little swan Abbie (two). Little Abbie is the calm in the middle of our two whirlwinds.
She is strong-willed yet accepting, smiley and loves to sing. She has a cheeky side and likes to blow raspberries – at anyone!
Abbie was born after another normal pregnancy so we were totally unprepared for the path we found ahead. Abbie has various skeletal abnormalities that restrict her mobility, posture and size. Her left kidney is non-functioning and she has scoliosis that will require surgery one day. For 18 months Abbie wore plaster casts on her body. She couldn’t have a bath with her brothers or go swimming with Daddy, and I lost our skin to skin contact which made breastfeeding her trickier. No-one could explain why so many parts of Abbie’s body were letting her down, so we were invited to take part in the 100,000 Genomes Project. It was at this point that we also discovered SWAN UK and Abbie became our little swan baby. By her second birthday she was diagnosed with severe pulmonary hypertension, a potentially life-threatening condition that is so rare there is not enough research available to tell us whether she will live a full life. We faced the realisation that we had a child with a rare condition, on top of being a swan baby.
SWAN UK made us realise that we are not alone. It has become a community that we can reach out to when we needed someone, and there is always someone there.
SWAN UK is accepting and welcoming. Without SWAN UK we would still be following our path full of surprises with Abbie and the boys, but it would be much more isolating. SWAN UK, our children, and the support around us has helped us to feel the courage and strength to keep going, and to have faith that being patient will reward us with a diagnosis for Abbie and provide some answers for when she is older and has to make choices for herself.
Abbie copes really well and amazes us all with her determination to be a normal, happy and smiley two year old girl. The smallest task exhausts her but she still makes me hold her upright so she can walk into nursery just like all the other children there. She bottom shuffles as fast as she can to find Daddy when he comes home from work, her little heart pounding in her chest. Abbie now has six different daily medications and has daily oxygen therapy. Her next challenge is to wear a plastic brace for 23 hours a day which will limit her again from practising the skills she has only just learnt to do, skills that already take her breath away with effort.
Abbie is incredibly forgiving and deals with her therapy sessions and hospital appointments with such courage. We may not have expected to have a daughter with both rare and undiagnosed conditions but she makes us feel so proud and brave. Her brothers show resilience as they are also learning to understand that their little sister has needs different to theirs.
They have dealt with visiting Abbie in hospital and have accepted medical equipment into our house and our family routine. It is beautiful to watch the boys teach Abbie how to roll a ball, say a new word or hold her hand when she is sad. Freddie and Joey love their sister so much and she adores them, especially when she sees them running through the playground, calling her name, arms wide open and ready for a hug at the end of the school day.
We are so proud to have these three little warriors in our lives, our three brave and playful lion cubs.
Family time is important, whether it’s at home watching films or going on outdoor adventures in our ‘places of peace’. Living with ‘undiagnosed’ and ‘rare’ syndromes makes it difficult to plan for the future so we live for the here and now, taking each day as it comes, because right now, we can’t miss another minute.