NHM Reader’s Experience: Children with Additional Needs, 5q14.3 deletion

Thank you very much to the NHM Reader who has written today’s post. It’s a very brave thing to write about and she’s done a brilliant job. 

NHM Reader’s Experience: Children with Additional Needs, 5q14.3 deletion

I have spoken to Louise a few times about how we can raise awareness about children with additional needs so I agreed to write a post.

I am keen for my daughter and children like her to be included, respected, accepted, encouraged, supported and loved. Hopefully raising awareness helps with this.

I have a beautiful daughter with a rare chromosome disorder. That rare it is only seen in 1 out of 120 million people !!!!

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 in April 2015 and 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 at each one. Everything was lovely for the first few months. Then 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 and 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 long 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 paediatrician was needed.

We had to wait till she was 9 months to get this appointment. So we enjoyed our 1st Christmas together as a family of 3 and 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 and walking with a parent. Whereas we were getting excited as she had just mastered a roll!

When we saw the paediatrician and we stated her short list of current milestones he referred us straight away for tests, bloods were taken that day and an MRI scan booked. The following month she had her MRI scan. Such a scary and long day at the hospital but she handled it so well. She is a placid and content person.

All her tests and MRI scan came back negative. The paediatrician just said they were waiting on the genetics team to get back to him. Everything sounded fine – Big sigh of relief. She then had her 1st birthday in April. She had 2 parties and 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 and the pool there is great.

At 13 months old we went back to the paediatrician and were given the devastating news that she had a rare chromosome disorder. 5q14.3 deletion. What even is that?!? Let’s ask the doctor, but even he couldn’t 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.

Reading the leaflet I was in flood of tears…..

“May not walk till much older if at all”

“May never talk”

“prone to autism, epilepsy, hypotonia etc etc etc”

I was numb. 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 and also be there for my little girl who that same day had further blood tests along with Mummy and Daddy to see if we had passed her this. As if I didn’t feel guilty enough as it was.

We went to see the genetics team in Winchester. Finally, someone can answer our many questions. What did we get, the same leaflet that was given to us at the paediatrician appointment. However, we also found out that within her 5q14.3 deletion she was missing an entire gene – MEF2C. We later found out this is a commanding gene and explained many things.

At 17 months her baby brother was born. As I had to have a c-section the 1st 12 weeks we had visitors every day and a few people supported us so well and I will be eternally grateful. Then followed some of my loneliest & darkest days of my life. It was winter. I struggled to leave the house with both babies as I couldn’t carry them at the same time. The visitors became few and far between and the days were long and hard. Then 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 VERY different to her peers now. She was still a “baby” & they were all clearly “toddlers” running around, jumping, laughing etc whereas she could not even stand or crawl.

Now she was a little under 2 years old and her little brother started crawling at just 4 months old. I knew 1 day he would overtake her in milestones. But I had not yet prepared myself.  She had been trying all year to master crawling and he picked it up in a few days. I was honestly depressed. But also felt guilty that I couldn’t be happy for him as I was grieving for her. How bad a mother am I!!

However with each passing milestone he achieved, for instance walking at just 9 months I could then be happy for him. The 1st one was just hard. It seemed to come so easy to him with very little effort. Why is life so unfair? To make some children work so hard for what many people take for granted. I may never hear my daughter say she loves me and that is the hardest thing with all this. I can cope (well possibly my back can’t) with the physically side of this. But if she never talks, that will slowly break my heart.

At 2.5 years she got a place at an amazing special needs nursery. She also has lots of equipment now like a stander, a supportive chair and a walker. Within 3 months at the nursery she was doing well and started crawling!!! It’ss about 1 year since then and I still stop whatever I am doing to watch her crawl as I am still overwhelmed and emotional to see it.

She still continues to amaze me all the time. She can almost now stand unaided and is trying so hard to pull to stand up. She loves music and water so we are very grateful we get to do both at the amazing Bluebells facility in North Waltham which is funded by the charity Sebastian’s Action Trust.

If you are reading this and think or know your friend or family member has a child with additional needs, I would encourage you to reach out to them. They just want to feel supported and to be included and treated the same as anyone else. Empathise and listen if you can. But they certainly don’t want pity though, that is very different.

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 of my face every day.

Some things I do that help. Some are much easier than others, some I don’t do all the time and some you may need help with

  1. I don’t compare her to others
  2. I don’t think about what she should be doing at her age
  3. Applied for financial help – Disability Living Allowance
  4. Contacted local help for support and advice hampshiresendiass@coreassets.com
  5. Tree tots. This is a coffee morning. Run every term time Wednesday 10-12. For parents of pre-schoolers
  6. I try to have separate time to concentrate on each child (when possible). My children couldn’t be more different and need/want very different things from me
  7. To not be afraid to ask for help. I need to get better at this myself.
  8. Me time. I don’t get this often, but I try to ring fence some pamper time or catch up with friends
  9. Seek support from charities (Like the above-mentioned Sebastian’s Action Trust)

Also Family Fund give grants (up to £500 per year) according to child’s needs

  1. Find Facebook groups with people who have the same or similar condition. I am on a few groups like this 1 in particular are like my extended family even if the group is only 300 people and are all over the world. This means if I am not sleeping and want to vent someone in Australia for instance will chat with me
  2. Find places that offer child free or carer free. 

If you are in a similar situation or would like me to explain any above points further please do get in contact with me via Louise ! If you don’t want to reach out to me, please reach out to someone. Thank you for reading to the end !!

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