Evie’s story by Leanne

In around November last year, the husband was leafing through the Unique magazine which features stories from their membership. Suddenly he thrust it under my nose and said “Look, look at this!!” And staring out at me from the pages was the sweetest little face, one that reminded me in so many ways of Marigold’s, and the story of Evie, a baby with 3q mosaicsim. Although it was a different duplication (3q24q29 rather than 3q11q29) it was still the nearest we had come in months to finding anyone with anything like Marigold’s mosaic duplication. Reading through the story, I immediately saw Evie had a number of things in common with Marigold. One quick cyber stalk later (thank you Mark Zuckerberg!) I had contacted Evie’s mum Leanne to say our daughter’s shared a similar genetic condition and we were off, comparing experiences and challenges and marvelling at the sweet natured and special little girls we both had.

I have learnt more from Leanne and Evie about what Marigold might be able to achieve than any paediatrician, phsyio or therapist. Evie is about 9 months older than Marigold and her development is probably the most accurate benchmark for Marigold (whilst bearing in mind that even with similar genetic conditions, their challenges and achievements could be very different.) Recently, Leanne sent a video of Evie walking and it filled my heart with joy and made me feel that although it might take a bit more time, Marigold will get there too in the end.

Leanne, along with Beckz (whose story of her daughter Lily is to follow this week) are always at the end of a message to share special moments, one which might not mean much to the parents of typical children, but to us are momentous. We are also there for each other through the difficult times, through a lot of sickness and occasions when it feels very hard to cope, but with a supportive word from someone who understands, you are back on your feet again.

Leanne and Beckz, Evie and Lily, they are such an important part of Marigold’s journey. But they are also two amazingly strong mothers with very special daughters who are achieving so much. I feel so lucky to know them and am so looking forward to meeting up in person next month.

Here is Leanne with Evie’s story.

Evie – 23months

Duplicate 3q24q29 Mosaicism

Evie lives with her Mum (Leanne), Dad (Sam) and big brother Brandon 10yrs old.

Evie was born by emergency C-section weighing a healthy 7lb 14oz’s. She had no problems that we were aware of until the doctors performed their routine checks 24 hours later. They noticed that she had a few physical markings that could be linked to Down’s Syndrome, but said she didn’t appear to facially have this. She is small in stature, has a single palmar crease to each hand, sandal toe gap on each foot, fifth digits on hands and feet that are curvy, her thumbs are proximately placed, she has a larger head then average, an asymmetric face due to torticollis, wide set eyes, low set ears and a stork mark on her forehead. She also has issues with her bowels. The doctors also referred us to cardiology. We were discharged from neo-natal care as they said there was nothing major which required extensive monitoring, although Evie does have a few heart issues which need review every three months or so.

Then the health visitor came round for her routine check and wasn’t happy that we had been sent home without Evie having a blood test. Usually when there is a cluster of little problems, bloods are taken as they are a sign of a chromosome issue. She referred us to a paediatrician who sent Evie for bloods as he knew something wasn’t quite right. The results came back that Evie had duplicate 3q24.q29. They asked me and my husband to have blood tests to see if either of us had passed this to Evie. The wait for those results was agonising. Worrying that you may have passed something onto your child that could affect their whole life is the worst feeling in the world. Our results came back that Evie was “de novo”, meaning that neither of us passed this to Evie. Evie had a further blood test and this showed that Evie has duplicate 3q24.q29. mosaicism and this is present in over 70% of her genetic material. Her genetic consultants aren’t sure what this means in terms of Evie’s developments. They are learning along with us. The doctors are always surprised when they see Evie as on paper she sounds like she should appear a lot different then she actually does.

Evie is the most special and magical little girl you could ever meet. Her smile can light up the whole room and can melt even the coldest hearts. Despite her difficult start in life she still amazes us every day as she’s so happy and giggly. She is now 23 months and as of this month has started to walk unaided which is a massive achievement for her. We are very proud of our little chrome cutie. We are very hopeful for Evie’s future, she is such a determined little girly. She has taught us patience, understanding and strength. We feel very privileged to have Evie in our lives. She is truly remarkable.

We recently met Helen, Marigold, Beckz and Lily. Meeting people who understand what we go through on a daily basis has been an amazing tower of strength. It is so good to talk to people who understand and won’t judge when the emotional times get the better of us. Meeting them has made this journey that little bit easier! Our gorgeous little ladies have brought us all together.

 

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