Amelia came into the world on 6th January 2020. Her growth had begun to slow down at around 28 weeks, so with bi-weekly scans, we kept a close eye on her. Doctors decided to deliver her at 34 weeks.

She did incredibly well when she was born. She weighed 3lb 11oz and spent 14 nights in the NICU at Broomfield Hospital.

I first began to suspect something could be wrong when Amelia was around 10 months old. Having had two children previously, I was familiar with milestones and the typical age for them to occur.

Amelia would never respond to her name or any kind of noise or interaction, and there was none of the little babbling or cooing you would expect from a child of her age.

My first thought was that she could be deaf, as she wasn’t responding to loud noises around her and never startled.

However, a quick little test of playing Hey Duggee underneath a sofa cushion quickly taught us that a) she could hear perfectly fine, and b) she was obsessed with the show!

We contacted the health visitor and GP with concerns that Amelia wasn’t making any verbal noise, responding to her name, and just didn’t seem to be developing much. At first, I thought this could be due to her being slightly premature.

Fast forward to Amelia being 19 months old, and she still wasn’t standing, talking/babbling, or responding to her name.

She didn’t seem to have either the interest or the ability to play with toys. She certainly didn’t engage in any kind of interaction with other children or adults and was just a pretty silent child.

Amelia’s sister has a malformation in her brain, so I may have been wary of things going wrong, but on 21st July 2021, I took her privately to see a doctor at Springfield Hospital—the same doctor I had consulted when I had concerns about Lola.

At the hospital appointment, the doctor was very frank and open with his thoughts, believing Amelia could have a genetic disorder. Upon examination, he felt that some facial features, her muscle tone, and lack of development pointed toward this possibility.

Although you couldn’t interact with Amelia, play with her, or talk to her, she would occasionally, on her own and without stimulation, begin laughing uncontrollably. This was a symptom of a condition called Angelman Syndrome. Amelia fit the bill in every aspect—from the lack of development to the inappropriate laughing, muscle tone, and facial features.

On 26th August 2021, Amelia had her first of many seizures while I was home alone with her.

I was a complete mess, to be honest. I rang for an ambulance, and it seemed to take forever in those minutes we were alone. She remained completely still for the rest of the day and had no energy whatsoever. She was taken to the hospital, where she was monitored and discharged. I was told to bring her back if, during future seizures, she stopped breathing for more than a minute.

I thought I had found the answer, as seizures can start around the age of 2 with Angelman Syndrome. So when her genetic test results came back negative for the condition, I was really shocked and almost disappointed, as I thought we had finally found our answer.

On 1st September 2021, Amelia had an MRI where it was discovered that she has reduced myelination, reduced brain volume, and high flair signal changes in the centrum semiovale.

These results explained the developmental delay, but there was still no answer as to what was happening. It was still believed by neurologists at Great Ormond Street that Amelia has an undiagnosed genetic disorder.

In February 2022, Lewis, Amelia, and I had blood tests done to analyze Amelia for Chromosomal Microarray (CMA).

Chromosomal Microarray (CMA) is increasingly used for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).

Now, in January 2023, Amelia is three years old, and we still do not have those test results back. We are told they could take another few months.

While Amelia has developed physically and now has the ability to walk, mentally, she still seems to be ‘stuck’ at the developmental stage of a typical 10-month-old—right back to when I first began to suspect there was an issue.

Amelia has been diagnosed with:

Global Development Delay

Social Communication Disorder

Hypotonia

Awaiting genetic testing results

Like many other children with genetic disorders, Amelia doesn’t sleep well at night. She has been prescribed 6mg of Melatonin each night, which 50/50 helps her fall asleep, but most nights, she wakes up in complete distress, and we have no idea why.

Amelia can spend up to 4 hours an evening screaming. We do our best to comfort her by offering milk, calming sensory videos, but most of the time, it doesn’t work. Being unable to communicate with her is so difficult because we have no way of finding out what’s wrong to calm her. She dislikes physical touch, so whereas a neurotypical child might be comforted by a hug, that doesn’t work with Amelia.

During these hours of distress, Amelia, now being a strong three-year-old, thrashes around in her cot and has caused herself some serious injuries. She’s had multiple nosebleeds and bruises to her head from headbutting the rails and sides.

This leads to our greatest concern for Amelia—her lack of danger awareness.

There have been occasions where she’s somehow figured out how to do things overnight, such as:

Unlock the front door and wander out on her own

Turn on the hobs on the oven

Turn the taps on in bathrooms and wander off, leaving them to overflow

Use items around the house to climb up to high places

Climb feet-first into the toilet (water fascination, we guess!?)

Climb onto the kitchen surface and push off anything there, including glasses, plates, or small appliances like the toaster or kettle.

The main concern at the moment is that Amelia has learned to climb out of her cot, which means she has absolutely no safety at night. She is able to climb over stair gates, and with her lack of sleep, there is so much time in the night when she could harm herself if we’re not awake.

She needs 24/7 supervision while awake.

Taking it in turns to sleep outside her bedroom door is the only way we have managed to safeguard her so far.

We are fundraising to try and make Amelia’s life a little more manageable and enjoyable for her, to give her the best support so she can grow and develop whatever skills she has and help keep her safe.

It has been estimated that the cost of raising a disabled child is three times as high as that of a child without any disabilities.

Just before New Year, I called Essex Council and the Children & Family Wellbeing Hub. I was completely broken and in tears, begging them for some kind of support, explaining that I was struggling to cope and felt like a complete failure as her mother.

Two weeks later, I received a letter saying, “There is no clear role in which they can support us.”

How? How is there no role that social care can play in supporting a family with a disabled child? They have more knowledge about this than I do, but apparently, there is no help. Like many other parents, we’re just left to try and find the answers and cope alone.

Any money raised will go towards specific therapy tailored for Amelia and equipment that she needs—particularly a safety sleeper bed so she can sleep securely at night without the risk of harming herself, and intense weekly speech therapy sessions to help her communicate with us.

On the NHS, she is entitled to six speech therapy sessions in a 12-month period. That is one session every 8 weeks.

Amelia needs consistent input if we have any hope of helping her develop and turning her screeching into actual spoken words. If Amelia had the ability to use even single-word sentences, we’d have a chance of making her life much more comfortable.

7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover our core operating costs.

If we raise insufficient funds or surplus funds, the funds will be used, if appropriate, to support our child’s needs in accordance with Tree of Hope’s charitable objectives. If, in those circumstances, we are unable to use all or part of the funds for the benefit of our child, then any funds that cannot be used will be transferred to be used for the general charitable purposes of Tree of Hope.