A Fight for Diagnosis: Our Journey to Understanding

We knew our daughter had learning difficulties early on. She had been late to sit and walk; she never really crawled but instead rolled, almost swimming across the floor. Her speech was delayed due to her hearing loss, but she also had meltdowns and sleep issues. She was clumsy and struggled with motor skills. No one ever gave us a clear diagnosis beyond “special needs.” Words like dyspraxia and limited understanding were thrown about. It got harder as she grew older. Her speech developed, but she struggled in many other ways. Steven and I would often talk about it long into the night. Maybe one day someone would come up with an answer or discover something that made sense, but we didn’t really believe they ever would. We were filled with fear for her future. What was to become of her? How was this ever going to end well?

It wasn’t until the transition into high school that we began to think she might be autistic. I had never considered it before. My friend Pamela had tentatively suggested it to me years earlier, but I couldn’t go there. I didn’t want it to be true. I had been quite offended by the suggestion at the time. But the meltdowns had increased with this big change in her life, and she had developed tics. A nervous cough appeared every day before school, and she would vomit on the way there. The anxiety started on a Sunday night. A fear of seeing people faint or fall emerged, and we seemed to encounter it everywhere, oddly. We tried the GP and educational psychology, but they couldn’t offer any help. By chance, we found an organisation called SENCE through a Google search. They told us about CAMHS. All these years and all these professionals, and no one had ever mentioned them to us. We needed a GP referral, so back we went. The GP, who had never suggested this himself, wasn’t going to agree to the referral. It was only when I broke down in tears, exhausted and fearful for my child, that he reluctantly sent the referral.

We waited a months, but eventually, we got an appointment, and an assessment began. Many forms and questions had to be answered, and as I filled them out, I realised I didn’t always know the answers. Did she look people in the eye? She looked me in the eye, but I wasn’t sure. Did she have special interests? I didn’t think so; I couldn’t get her to sit still long enough to have one. I didn’t want my child to be autistic. I really only wanted an occupational therapy appointment to get a sensory diet. I had read about this and was keen to get it. At this time, it was 2010, and before the assessment, the CAMHS diagnostician had told me that currently Occupational Therapy was not working with any children who had an autism diagnosis. This seemed to be a funding issue. So we needed this assessment to say she was not autistic to get the sensory diet. It was madness. This was only happening in our area for a short time in history; no one else I’ve ever met remembers this. But of course, it would have unconsciously affected my answers in the assessment. Unsurprisingly, the result was that she was not autistic. I was delighted. It was exactly what I had hoped for. But then, why was she having these issues?

The two CAMHS workers involved couldn’t agree. I sat there as they argued—one thought she was autistic, the other suggested it might be trauma. Trauma! What were they saying? Suggestions about my parenting, leaving her to “cry it out,” or even threatening her with the police when she had been violent towards me. So much shame and blame. I had been doing my best, not knowing what else to do. As a foster carer, this felt doubly shameful. I had seen the impact of trauma. It was a dark day indeed. But at least we were finally referred to Occupational Therapy. The sensory diet was helpful, with exercises designed specifically to help ground her. We used these often. I was grateful to CAMHS at l for this is nothing else.

As time went on, I began to notice all the things I had claimed she didn’t do on the assessment forms. She didn’t look people in the eye. She did speak in a funny voice at times. She did hum and stim. I just hadn’t noticed. But the real moment of clarity came when she finally learned how to draw a star, something she had struggled to do. I went up to her room; she had been up there for hours, which was unlike her. She never sat still or focused on one task for long. She was at her desk, drawing stars. Pages upon pages of stars covered the floor. It was equally wonderful and terrifying. It wasn’t that she didn’t have a special interest; it was that, due to her learning delay, she hadn’t developed the capacity for one until then. The more her motor skills developed, the more she drew. She coloured, scribbled, did paint-by-numbers, and later, as her understanding of words and spelling grew, she started word searches and crosswords. Then came maths books—addition, subtraction, times tables. She loved it when we wrote her long sums. Off she went with her calculator. All these signs were so obvious now. She repeated lists and numbers, and practised conversations with herself. A common phrase in our home became a sarcastic “No, she isn’t autistic at all!” whenever she did something obviously autistic.

Every professional we worked with would ask if we had considered having her assessed. It was so frustrating. I called CAMHS to tell them this, but they assured me I was mistaken. They were adamant that, as she had used imagination in her play at their sessions, she couldn’t be autistic.

A year later, I heard about something called Pathological Demand Avoidance (PDA). It sounded very similar to the challenges we’d been dealing with. It was a rare type of autism, largely undiagnosed. I ordered a book called My Daughter Is Not Naughty, which described everything we’d experienced. The constant battles over simple things, her fixations on specific people and objects, her meltdowns. The big things and the small things. This was unbelievable. This was it. Everything made sense. I waited, hoping CAMHS would learn about this and contact me to say they now understood, but that call never came. I rang them, and they again told me that as she didn’t have an autism diagnosis, she couldn’t have PDA. I was gobsmacked. I didn’t want my child labelled as autistic, but it was obvious she was. I couldn’t get professionals to meet her needs without a diagnosis. There’s a lot of debate around diagnoses, but sometimes they’re needed. Without one, we parents aren’t taken seriously. I don’t think any parent wants to be in this position, so if they believe this is the case, they should be listened to. No, it doesn’t change anything, but it can provide clarity and understanding. I decided to try the PDA techniques from the book, and they made a big difference. If I didn’t give a direct demand, she was more willing to do things. Reverse psychology worked every time: “Don’t you dare put your pyjamas on; I’ll be so annoyed if you do!” would send her off squeaking with delight, and she’d return changed for bed as I mock-groaned, “Oh no, I didn’t want you to do that!” Her sister also learned this, becoming skilled in managing and gently steering her PDA behaviours.

But things could still be hard, especially when routines changed in our lives. I now understood that her meltdowns weren’t a choice. This shift helped me, but it didn’t stop the meltdowns; it just helped me take them less personally.

The years marched on, and she was becoming a young adult. Services needed to be in place for her transition out of school, but without a diagnosis, nothing was forthcoming. I spoke to the school, who agreed to have the school doctor reassess her. It took years to progress, and just as we were about to get this done, we were told she was too old and would have to transfer to the adult team. By this time, there were so many signs. She would mimic me as I spoke, copying my words and mannerisms. In social situations, she was awkward, and in an attempt to join conversations, she would say random things that made no sense. She couldn’t follow conversations. I knew she was PDA autistic. I decided to give up this futile fight for a diagnosis. It had worn me down. I refused to spend any more of my energy on it. I didn’t need it. We knew the truth.

She was managing college as best she could on her special needs course and attended a special needs swimming club. Swimming really helped her regulate. The repetitive movement, breathing, and deep pressure of the water, three times a week. She had friends and even a boyfriend. She was part of a club and winning medals. There was finally something she was good at. We were in the best place we had ever been with her when we were offered genetic testing. We did it mostly to see if her issues were genetic and something her sister might need to consider when having her own family. It was extremely unlikely she herself would ever have children, but her sister very likely would. We didn’t expect what we learned. They explained she had an extremely rare gene deletion called DLG4. At that time, there were only 70 people in the world with this. It was called Shine syndrome, and part of it involved autistic spectrum disorder. This was incredibly validating. Finally, at the age of 22, we understood. This was not genetic; her hearing loss is genetic, but not the other issues. This is something that happened in gestation—a gene that didn’t develop. No one’s fault. But the more we learned, the more it made sense. With Shine syndrome, children struggle with motor skills, global developmental delay, and skeletal issues. So many of the issues she struggled with that we hadn’t understood.

My heart broke all over again for the times we made her walk when her legs and joints would have been painful. No wonder she always wanted into her sister’s pram; she hadn’t the words to communicate, and we didn’t know. When I think of her as a young, deaf, autistic child, suddenly having sound and vibration thrust into her silent world, it’s so clear why she struggled with it so much—the sensory overwhelm she must have been experiencing would have been imence. If only we had understood this.

We have come such a long way from there. The final step was learning about the trauma-informed approach and realising that all the stress and fear Steven and I had been experiencing was only making everything worse. The children were feeding off our energy. Since making these changes and reducing our stress and fear, she no longer has meltdowns. Her demand-avoidant behaviours are short-lived and are now a red flag, telling us she’s stressed about something she can’t fully communicate. We can work to help her by validating this, helping her figure out what it is and release the stress. Meltdowns are a thing of the past. Of all four of us, she is often the most regulated, highly aware of our stress.

Knowledge has truly been everything for us. I’m often sad that it took so long to get here, but I also truly believe we went through it so that we could be where we are now—to this place where we can share that ray of hope with other parents struggling with similar big behaviours. I just wish someone could have done this for us back then.