Ruby

Ruby’s development seemed typical up until she was approximately 4 years old. 

She could speak, communicate, play with others, was toilet trained, slept through the night 12 hours, and was learning phonics at school. She could recall some numbers, letters and their sounds and loved playing with her toys. She could also play appropriately in role play with her favourite little figures. Her favourites were Paw Patrol, she taught me all their names. She also had danger awareness and would look back for us when running ahead when out and about. She understood turn taking and could play simple games, and was socially interactive and had friends.

Ruby had started school nursery in September 2018, a week after her third birthday. The school noticed she seemed quite shy and didn’t carry herself with the same confidence that she did at home. She didn’t like to join in group activities and would sit back and watch. She could till demonstrate her knowledge with shapes and colours etc and would still play with her toys. She was seen by a speech and language therapist at school who suggested Ruby had Selective Mutism, and would benefit from a complex communication assessment. Although we were told the assessment would be a long way off, we had an appointment with a paediatrician in the meantime. At no time was autism mentioned as a possible diagnosis.

Ruby was the very youngest in her year, born on 31st August (2015). Due to the shaky start at school and the selective mutism, it was authorised that Ruby could do a second year in the school nursery and then be educated out of chronological age group. We thought this would develop her confidence. Nursery did so much work with Ruby in the remainder of her first year. She started to participate and was talking more in school. There were high hopes for her repeating the year in the coming September, and we thought this would do her the world of good, bringing her up to speed ready for Reception the next year. 

During the summer school holiday of 2019, we noticed some changes with Ruby. She started to get very angry and had huge meltdowns. These episodes could last hours, during which Ruby was inconsolable. It was usually concerning her toys, she would try to get them to do something that they could not do. She would shout and scream continuously about the same issue, often to the point of physical distress, and nearly vomiting. There was a disturbing level of rage, and no known strategies were effective in calming or redirecting her. For example, she had a little figure she acquired form a Happy Meal. She called it Bear and would take it everywhere. If she had to put it down she would become very anxious. Id given her some of my old Barbies from I was little, she wasn’t interested. However, she tried to make one of Barbie’s shoes fit on Bear’s foot. It wasn’t possible as it just wasn’t the right fit. She would sit for hours getting more and more distressed over the shoe not fitting. She would put it on and it would fall off, over and over again. This would often happen at bedtime. She would try take it to bed but everytime the shoe fell off and she couldn’t find it she would become very distressed. I bought her a little bed pocket that could hang on the side of her bed, and said that would be Bear’s bed. She would not put it down. It went on for hours her laying down with Bear, losing the shoe andtrying to put it back on again. I had already tried glue, tape and blue tac to make Bear wear the shoe but to no avail. It would happen every bedtime until I decided totry replace it with another toy that wear shoes! It then started to happen with other toys. We couldn’t happenedwhat had happened to our girl with the crazy “tantrums” and were told to deal with them firmly. It didn’t work.

As the summer when on, Ruby experienced a significant regression in her behaviour and overall functioning, which raised serious concerns regarding her mental and developmental health. This deterioration followed theperiod during which she had already begun exhibiting episodes of prolonged anger and aggression. 

Ruby then ceased speaking at home altogether. She made no sounds whatsoever. In addition, she withdrew entirely from her environment—she stopped playing, lost eye contact, showed no interest in any activities, and appeared completely disengaged from the world around her. She did not recognise familiar people, including close family members, and was unable to understand or respond to spoken language directed at her. She also lost control of her bladder and bowels during this time. She stopped attempting to dress herself, exhibited no interest in daily routines, and became indifferent to her surroundings. Of particular concern was a complete loss of awareness of danger—she no longer recognised or responded to common hazards such as traffic, hot liquids, or heights. She would climb onto her windowsill and plunge her hands in to drinks, hot and cold.

This sudden and severe regression marked a significant shift in Ruby’s development and functioning. The combination of emotional instability, communication loss, incontinence, and unresponsiveness to her environment, we felt required urgent and thorough clinical investigation, as it has had a profound impact on her safety, well-being, and quality of life. We took Ruby to the GP to express serious concerns regarding Ruby’s sudden regression, and emphasised the urgency of the situation, given the dramatic changes in Ruby’s behaviour and functioning. Despite our grave concerns, we were advised to wait for her Complex Communication Assessment— where the referral had been done suggesting Selective Mutism. The GP did not offer any immediate support and I was in despair that they did not intervene, other than to recommend that Ruby be seen again by the paediatrician, with another long wait for an appointment. I was absolutely devastated that Ruby was pushed aside as they could not see the urgency that seemed obvious to me. I kept thinking if Ruby was an adult it would not be blamed on autism striking abruptly. 

Following Ruby’s period of complete silence, Ruby began vocalising again; however, her speech did not appear to serve any communicative purpose. She would move quickly around the house, run in circles, mumbling to herself throughout the day. Her verbalisations were largely incoherent. It mostly consisted of unclear or unintelligible words, with occasional recognisable words. These utterances were not directed at others and lacked any meaning. This pattern of non-functional speech continued for approximately a year, gradually diminishing until her verbal communication ceased entirely once more. Ruby began displaying a new set of behaviours that had not previously been observed. These included unusual repetitive hand movements and forceful clapping of her hands in front of her face. She started banging her hands on windows, walls, and various surfaces, which appeared purposeless and repetitive. She would start emptying cupboards and boxes and repetitively throwing them around. This started with her toys but progressed to plates, glasses, household items and belongings. She once grabbed a glass from someone whilst running past and threw it in front of her. It smashed and she continued running on the glass. Luckily there were only a few minor scratches.She really lacks impulse control where it comes toliquids, large bodies of water and food she enjoys. She will have the urge to enter the sea on visits to the seaside, whether it is hot or freezing cold. She will also snatch food from strangers if we don’t hold both her hands around food- many chocolate bars and ice-creams have been snatched from people when they’re about to take a bite! She no longer uses cutlery, unless it’s food like soups or porridge. Everything else is picked up by the handful and shoved in the mouth. She spits out so much food and drink and seems to enjoy this sensation, staining lots of clothing, and smearing food all over the house. She cannot seem to stay seated at the table anymore, just picking up food whilst passing her plate as she goes back and forth.

The overall onset and progression of Ruby’s regression have so far been unexplained. The speed and severity of the changes in her communication, behaviour, and overall functioning were deeply distressing and remained a cause of significant concern.

She eventually had appointments with the same assigned paediatrician, who failed to recognise her decline and remember her appearance from previous appointments, where she was still talking. Ruby's presentation had changed dramatically. She exhibited highly dysregulated behaviour during an appointment: she was climbing on chairs, not speaking, throwing water around from the sink, unable to sit still, avoiding all eye contact, and constantly jumping around the room. These behaviours were a marked departure from her previous presentations and further highlighted the severity of her regression. The paediatrician suggested that Ruby's behaviour could be explained by autism. We could not understand how this had never been picked up on before and she never presented that way a few months ago, and how can someone develop severe autism out of nowhere. She said regressions can happen. I was sure she didn’t understand the extent as to just how much she has regressed, and didn’t recall her earlier more functional state. I showed her videos. Despite the rapid and concerning decline, the explanation remained unchanged: the behaviours were attributed solely to autism, and no further cause was explored. It took many occasions over these months requesting a referral to a Neurologist, until it was eventually agreed. 

I had to find a way to contact Ruby’s teacher over the summer holidays as we were unsure how she was going to cope without 1:1 support, or if we would be able to get her into nursery at all. I had to make them aware of the massive changes in Ruby over the Summer holidays. InSeptember 2019, 1:1 support had to be implemented for her not long after her return to nursery, as she could no longer take part in activities or understand what was expected of her. She continued to regress and had no attention span, all she did was run around being disruptive and clapping her hands. She lost all knowledge of what she had learnt previously, and she could no longer follow the morning routine. Prior to Ruby’s regression, the possibility of autism had not been raised by any professionals involved in her care, including staff at her school nursery, or health visitors. Ruby’s teacher at the time, who is trained in recognising early signs of autism, explicitly stated to the paediatrician that autism had not been suspected. The teacher also expressed her inability to explain the sudden onset of Ruby’s unusual repetitive behaviours and marked regression to the paediatrician and how she was like a different child. She emphasised the abrupt and unexpected nature of Ruby’s behavioural changes and the significant deterioration observed.

Sleep then became a problem, when she started waking regularly in the night. She would leave her room, and we would find her downstairs in the dark running back and forth shouting, and would not stop when we asked her what was going on or why she was doing this. She would stay awake for hours. Sometimes not returning back to sleep at all. Behaviours escalated such as screaming, screeching, shouting and banging on windows and walls for prolonged periods. She would spend hours walking back and forth in her room, slamming herself into walls and bouncing back off again in the opposite direction like a pinball.

Ruby had her complex communication assessment in the same week as also being admitted to hospital to a Neurologist for medical investigations, early June 2020. She had an MRI, EEG and bloods. Later that year she also had a lumbar puncture. Things that were brought to our attention were elevated TPO antibodies, and slight abnormalities in the EEG. After discussing this with neurology, we were told these were not abnormal enough to warrant any treatment. 

We were asked if there were any illnesses preceding the regression. The only event we could think of was in December 2018 and January 2019, Ruby was saying it hurts when she urinated on the toilet. I took her to the doctors on a few occasions, and they did urine tests which came back normal. They eventually prescribed Ruby antibiotics in case there was an infection not being detected. Ruby was still stating it hurts when using the toilet, until eventually she could no longer talk.

We sought a second opinion from another neurologist at another hospital, and also opinion of a private neurologist. Further tests were suggested. After these had been carried out, there were still no answers. The NHS neurologist we sought a second opinion from, proposed the possibility that this could be Childhood Disintegrative Disorder. I had previously come across this condition after scouring the internet for months to find answers. I remember presenting this to my husband, and him reassuring me we wouldn’t be facing this, and here we are.

We were recommended to see Dr Absoud, who finally understood and empathised with what we had been experiencing. We were put in touch with Yale University with regards to the study.

Ruby continued to regress. She started faecal smearing, and eating non-food items, picking things up from the floor on the street to put in her mouth. Taking her out can be a challenge at times. She’s often ok in the initial stages, for example, going for a walk. Then without any trigger or warning, she slips our hand then just runs. She has run into roads and left the house on a couple of occasions, when the door has been accidentally left unlocked. In these instances, she is completely unaware of the dangers around her and can be running around staring at her hands whilst waving them in front of her face. She remains completely uninterested in toys and prefers to mouth and chew them. She’s very sensory seeking and any messy play activities are thrown around, completely oblivious to the mess that has been caused and why this is not desirable. She has also had two seizures, in November 2022 and October 2024, but these have been put down to being link with stomach bugs she had at the time, however this never happened previously.

I have pushed for trials of meds over the years, after realising there was no one would could find answers for Ruby. She was allowed the opportunity to trialprescribed Steroids Dr Absoud, as at times I was convinced this was encephalitis, but I had not been taken seriously for this to be fully considered. We saw a marked improvement where Ruby seemed like she was trying to verbalise and had said “Mummy dinner” when it had been years since we heard her say anything. She also seemed more focused. However any improvements were short lived and she was not allowed to continue.

She has also trialled Lamotrigine with no improvement in the attempt to stabilise her mood, this showed no improvement. Ruby has also currently trialled Methylphenidate and Clonidine, but we are not entirely sure if there have been any benefits.  

Although Ruby is now 10 years old, her current developmental functioning corresponds to that of a child aged 12-18 months. Despite this profound regression, we are deeply saddened and concerned that no ongoing meaningful support, investigations or services have been offered, and no one is interested in finding answers.

Despite all her challenges, Ruby can appear to be quite a happy child. She has episodes of uncontrollable hysterical laughter. There are times where she can go back and forth in between laughing and screaming/ crying with no apparent triggers. The times that are hardest are when she has prolonged episodes of crying and violent outbursts where she is throwing herself around, jumping up and down screaming and can turn to biting herself or others. She is still unable to communicate having had many attempts over the years at PECS, Communication apps and Signing. Her main method of communication is through crying or hand leading.