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Dis-Ability Inclusion Network member Jess

In honour of October being Dwarfism Awareness Month I want to share my story about my journey with my daughter, Layla-Grace.

Layla was born with a genetic condition called achondroplasia, a form of dwarfism that is caused by a random mutation in the FGFR3 gene meaning that her bones (specifically her limbs) grow slower and will be shorter than the average persons.

This is a rare condition that occurs in 1 in 25,000 babies born. I like to consider myself lucky.

At 29 weeks pregnant I was told that my baby's femur length was measuring short but this was put down to a possible inaccurate measurement and was told not to think too much about it.

I returned the following week and after having my scan, I was ushered into a side office where I learned that Layla's femur was still measuring shorter than expected. It was advised that I be referred to Sheffield Children's Hospital for a second opinion.

I attended Sheffield Children's Hospital where I undertook a very thorough scan. These appointments became difficult for me.

I hoped and prayed between each appointment that Layla would surprise me and hit a growth spurt, but that never happened. Hearing the sonographer call out my baby's measurements I knew in that instant something wasn't right.

After the scan was conducted, I was sat down and advised that my baby's measurements could be indicative of a form of dwarfism called achondroplasia. After hearing this news, I was then asked if I wished to terminate my unborn child.

This question really took me back as this thought had never even crossed my mind, especially at 32 weeks and adamantly refused. I knew that if my baby did / didn't have a diagnosis of achondroplasia I was going to love her unconditionally.

From this discussion I was offered an amniocentesis. This is a risky procedure that tests for foetal abnormalities in which I declined as I didn't want to put my baby at risk and there was a high chance of bringing on early labour.

Instead, I opted to have a blood test which was sent to Great Ormond Street Hospital to confirm diagnosis.

Whilst awaiting the results I immediately started educating myself on achondroplasia and dwarfism, trying to prepare myself for what our future may look like.

A week later I received a phone call to confirm diagnosis. I'll never forget that day. After I hung the phone up, I lost it. It felt official like there was no chance this was all just a fluke.

I cried because I wanted to tell myself everything was going to be okay. I cried because I feared what others would think and say about my daughter.

I thought of all the bullies she will have to face in our ugly world. I thought about all the challenges she will have to face.

But then I realised how lucky I am that I was chosen to be her parent, her biggest advocate and how she can still do and be anything she dreams of, even if her journey may look different.

From that day forward we met with the genetics team at Sheffield Children's Hospital who helped me prepare for what was to come after she was born.

I knew that she was going to need a few procedures done to monitor and prevent any health complications that people with achondroplasia are prone to. Hydrocephalus, spinal stenosis and sleep apnoea just to name a few.

On 14 September (her due date!) I got to welcome my baby girl!

At just 2 weeks old Layla met with the metabolic bone team at Sheffield Children's Hospital, who will be supporting her throughout her childhood.

At 6 weeks old Layla had an MRI done. Again, I had to watch my tiny newborn be wrapped up, strapped to a table and moved into a tiny tube.

I stood in the room with earplugs in and watched her through that tube the entire time. It felt like an eternity.

I'll never forget the sounds of that MRI machine either. The results of the MRI came back inconclusive and at 12 weeks old Layla had to be put under local anaesthetic to re-complete the procedure.

Since then, Layla has had to undergo several sleep studies which check for any signs of sleep apnoea. This is still a hard process to watch seeing your child hooked up to multiple wires.

Having a child who needs more medical attention than the average child is hard and nerve-wracking. But if there is anything I have learned over these last 12 months, it’s that my little girl is strong!

She has endured a lot in the short time that she has been on earth, and she has handled it all like a champ! Thankfully she has no major health complications at this time!

Layla being my daughter was always part of god's plan, and although this journey will have its highs and lows, I will be by her side every step of the way! Layla was fearfully and wonderfully made, and she will always know how much she is loved.