I have a beautiful daughter Elisia with a rare chromosome disorder. I believe there isn't anyone in Basingstoke with the same condition, so thought it was worth explaining. I will start by describing my daughter's story.
When she was born as far as we knew she was "normal", weighing a healthy 8lb 8oz, passing all tests & was absolutely gorgeous.
We joined the standard classes & groups making mummy+baby friends. Everything was lovely for the first few months. Between 4-6 mths a few things started playing on my mind, why is she not doing so well as the other babies? I put most of it down to the fact she was the youngest & everyone kept telling me "all babies are different", "she will get there in the end" & "all babies learn at different rates" etc.
When she got to about 7 mths things became more difficult. Taking her to classes & groups started to become a struggle. Simple questions from other mums upset me, even like the standard opening question "how old is she?" I used to panic straight away thinking they were asking as they noticed how little she could do. But it's the most common asked 1st question. The list was also getting longer of all the things she couldn't do which she should have really done much earlier e.g. roll, sit unaided or crawl. So I went to the GP who agreed a referral to a peaditrician was needed.
We had to wait until she was 9 mths to get this appointment, so we enjoyed our 1st Christmas together as a family of 3 & carried on as usual. We also attended a lot of her friends 1st birthdays which was difficult as they were all walking or at least standing & walking with a parent.
When we saw the peaditrician and we stated her short list of current milestones it was clear she had severley delayed development. He immediately referred us for tests, bloods were taken that same day & an MRI scan booked. The following month she had her MRI scan, such a scary & long day at the hospital but she handled it so well. She is so placid & content in her nature.
All her tests & MRI scan came back negative. The peaditrician just said they were waiting on the genetics team to get back to him, so everything sounded fine - big sigh of relief. She then had her 1st birthday in April, she had 2 parties & we had a little holiday in Butlins - our 1st family holiday. She couldn't go on most of the rides or enjoy the parks but we had a nice time, she loves the water & the pool there is great.
At 13 mths old we went back to the peaditrician and were given the devastating news that she had a rare chromosome disorder, 5q14.3 deletion. The doctor couldn't even tell us much about it as he hadn't come across it before. He downloaded a leaflet which explained the condition & sent us on our way.
The same day I started reading the leaflet whilst in the waiting room for mine & my husband's bloods to see if we had passed this to her or not. I was in floods of tears. "May not walk until much older, if at all", "may never talk", "prone to autism, epilepsy, hypotonia etc etc etc". I was numb but trying my hardest not to get too upset or stressed as I was 5 months pregnant. I knew I needed to be strong for my unborn child & at the same time be there for my little girl who was completely unaware of what was going on, she just wanted to be cuddled & loved.
At 17 mths her baby brother was born. As I had to have a ceasearn in the 1st 12 week "recovery period" we had visitors every day & a few people supported us so well & I will be eternally grateful to them.
Then followed some of my loneliest & darkest days I have ever had. It was winter, I struggled to leave the house with both babies as I couldn't carry them at the same time. Family & friend visitors became few & far between & the days were long & hard.
In the spring we had our much anticipated genetics appointment in Winchester. We were excited, we were looking forward to getting some answers to our many many questions. We were looking forward to someone shedding some light on what her future may hold. What did we get, the same leaflet we got from the peaditrician when we found out her diagnosis the previous year. We answered the geneticists questions, she told us she seemed quite strong so clearly didn't have hypertonia.
The 2nd birthday invites started to roll in. I felt pleased that she was still being included but also extremely anxious about the fact that she was now VERY different to her peers. She was still a "baby" & they were all clearly "toddlers". Running around, jumping, laughing etc whereas she could not even stand or crawl.
At 2.5 years she got a place at an amazing special needs nursery. She has lots of equipment now like a stander, supportive chair, bath seat and a walker. Her physiotherapist, occupational therapist, speech & language specialist & orthotics specialist all see her at nursery so our hospital visits became fewer. After 3 mths at nursery she was doing great & much to our delight was on the move. Our daughter after months of trying started crawling!!! It's almost a year later & I still stop whatever I am doing to watch her crawl as I am still overwhlemed & emotional to see it.
She continues to amaze me all the time. She can almost stand unaided and is trying so hard to pull to stand up. She loves sensory play, music & water so we are very grateful we get to do all these at the amazing Bluebells facility in North Waltham, funded by the charity Sebastians Action Trust.
I am finding ways to cope better and have accessed different support availible and also groups. I have listed some of these at the end. I still struggle & I still have low/sad days but I am getting better at finding ways to help & looking through the bad moments to find the good.
I often wish I had an easier life, but if that meant giving her up (or indeed giving up on her) I soon stop wishing that. I am blessed to be given my daughter, she is unique, loving & so special. She puts a smile on my face every day.