This blog post is a transcript of a speech made by Sarah Oakes at the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions meeting in Westminster on Wednesday 4 May 2016. Sarah Oakes is the mother of a child with an undiagnosed genetic condition and a member of SWAN UK (syndromes without a name). We would like to thank Sarah for telling her story at the APPG meeting, and for allowing us to post her speech here as a blog. 

Joshua Tucker

Joel is a funny, loving, happy, cheeky boy, who loves music and singing, and who has a passion for trains and buses. He also has, among other things, global developmental delay, autism, a learning disability, and an underlying genetic condition, which is effectively still undiagnosed.

Joel and his twin brother Toby were born in July 2009. The pregnancy passed fairly uneventfully until 24 weeks, when a routine scan showed that Joel’s growth was very slow, and from then on he was monitored very closely. When he was born, we noticed that he and his brother looked very different. Joel was considerably smaller, had a very weak cry, and was extremely sleepy. He struggled to maintain his blood sugar, and was unable to breast feed. In the following weeks Joel had issues with mucus, struggling to breathe at times, and also had reflux. But as we were busy just getting through each day with twins, as well as two older children, we didn’t dwell too much on Joel’s difficulties.

However I think subconsciously I did realise that there was something different about Joel. In the first few days after he was born, I distinctly recall googling “babies born with no eyelashes” as he didn’t appear to have any. They later appeared but they were hidden for some time due to the unusual shape of his eyes. I think, in the back of my mind, I did wonder if this was an indication that something may be wrong.

When Joel was around 5 months old, we became aware that Joel’s development was falling behind Toby’s. For example, when placed on his tummy, he couldn’t push up and raise his head as Toby now could. I took him to the health visitor, and was told not to compare the two of them, that all babies develop at different rates, that boys can be slower, etc. All things that we would hear many more times in the future. However the health visitor did agree to refer him to physiotherapy, to “reassure us”. Joel was seen by a lovely physio, who then saw him regularly every two weeks, and gave us a programme of exercises to do with him, as it was clear that his physical development was delayed, and he had hypotonia and hypermobility.

By the time that the boys were coming up to their first birthday, the physio had become concerned about other areas of his development. He didn’t like any loud or sudden noises, and hated the sound of people laughing. He was often unsettled and upset, but didn’t like being comforted or any physical affection. He rarely made eye contact, and wasn’t babbling. He had begun to have a range of seizures. She asked if she could refer him to the community paediatrician for an assessment.

At the end of a two and a half hour appointment with the paediatrician, she asked us if we had any idea of what might be going on with Joel. I said that I suspected that he was on the autism spectrum, which had been in the back of my mind for a few weeks. She said she agreed, however she said she felt he also had some sort of genetic syndrome. She pointed out all his “dysmorphic features” which indicated that there was an underlying cause. She highlighted his unusually shaped eyes, which were widely spaced, his head shape, his low set ears, his lips, his hands, his feet – it felt like suddenly there was something wrong with every part of our perfect little boy. She said she wanted to send blood off for genetic testing, and referred us to the regional genetics service.

We came back from that appointment reeling. Several weeks later the results of the genetic testing came back, and we were delighted to see that nothing had been found. The paediatrician must have been wrong! Yes, there was still the likelihood that Joel had autism, but at least there wasn’t anything else going on. A few weeks after that we had the appointment with the geneticist. We assumed this would now just be a formality – the tests had been fine, so surely she would see us briefly and discharge us. However the reality was very different. She explained to us that Joel’s dysmorphic features led her to believe that he definitely had some sort of genetic syndrome, but she had no idea what it was. She said that it was quite common for initial tests to come back normal, and that finding the answer could be like looking for a needle in a haystack. She ordered further, more, in depth tests, and said she would see him again in a few months.

All of a sudden, we had entered the world of the unknown. By this time Joel was seeing a whole range of professionals, and attended our local children’s development centre several times a week for a variety of groups and appointments. We asked them all, “will Joel walk?” “Will Joel talk?” “How will he develop?” None of them could answer these questions, because no-one knew what was wrong with him. All they could say was that they were giving him all the input they could in these early years, to maximise the chances of him reaching his potential.

The next round of tests all came back normal, and in amongst all my googling, in 2011 I found SWAN UK – a group specifically for families with children with undiagnosed genetic conditions. I couldn’t believe it – there were others out there in a similar position to us! It felt like such a relief to finally belong somewhere. From getting involved in SWAN UK, I heard about the Deciphering Developmental Delay (DDD) study. To me, this sounded perfect for us, and a way of hopefully getting a diagnosis. We saw the geneticist again, and she had exactly the same thought. We were enrolled on the study and gave our samples there and then. It was simply a case of waiting from then on.

Many people who are not in our situation find the need for a diagnosis difficult to understand. What does it matter? Joel will still be the same boy with or without a diagnosis. For us, a diagnosis has always been important. It is about understanding why Joel has the difficulties he does. What caused them? What went wrong? Is it something that could be passed on to future generations? It would also be helpful to be able to explain to other people why Joel is how he is. So many times we have had people say to us that because the tests have come back fine, that must mean that there is nothing wrong with him. Others say that they think he is fine, that he is just developing at a different rate to Toby and not to compare them, that boys tend to be slower to do everything, and he will “catch up”. It would be good to have some sort of diagnosis to be able to challenge these perceptions.

To me, a diagnosis is a bit like a coat hanger. Over the first year of his life, Joel had a whole range of symptoms, issues, and needs. It would have been nice to have been able to hang these all up together, in a co-ordinated way, to form one “outfit” that would be recognisable, and would neatly explain Joel to the world in general. Instead, it felt like we had all the symptoms, issues and needs in messy piles all over the floor, that we kept tripping over, and that kept getting in the way of our day to day life. There was no way of hanging them up neatly. I spent hours and hours googling, hoping that I could do what the doctors couldn’t, and find a syndrome that Joel fitted into – a coathanger that would allow us to tidy up the mess on the floor into the right outfit for Joel.

In the meantime, Joel made good progress: learned to walk, and started to talk, all at his own pace. We had to make the decision about schools – we had always envisaged both boys going up the road to our local primary school together, but we had to face the fact that mainstream school may not be the best option for Joel. We visited our local special school, and realised that this would be able to meet Joel’s needs, and give him the best opportunities to grow and develop. This made us feel very sad, but we were glad to have access to such a fantastic school.

We continued to wait for the results of the DDD study. Each day, wondering if the post would bring that letter. Like most parents of children with additional needs, we get a great many letters addressed to “the parents of Joel Oakes”, and there were many times my heart skipped a beat, thinking that one of these might be the letter bringing the news we were waiting for.

Then, two and a half years after we gave our samples, That Letter arrived, telling us that the study had found a probable cause for Joel’s difficulties. We had to wait a few, very anxious weeks, for an appointment to see the geneticist. When we saw her, she asked if we had heard of Bardet-Biedl syndrome. We hadn’t. A mutation had been found on BBS9, one of the genes associated with this syndrome. She said often people had extra fingers or toes, and she actually checked again that he didn’t, and also that there is a tendency towards obesity. She also mentioned that issues with eyesight can develop. She sent us away to read up on it, and said that there was a specialist team at Great Ormond Street for the syndrome, and she would discharge us and refer us to them.

After much googling, we learnt that the majority of people with the syndrome develop a rod cone dystrophy leading to visual impairment, and can have kidney problems, but generally the prognosis was good, and all in all it wasn’t a bad diagnosis to have. It was evident however, that Joel didn’t appear to be typical for the syndrome. Coming back to the coat hanger analogy: we hung all his issues up on the hanger we had been provided with, but somehow it didn’t end up looking like the outfits in the pictures. It all looked a bit mismatched, with bits missing. Was this really the right coat hanger?

We subsequently attended the multidisciplinary clinic at Great Ormond Street, where we saw a wide range of professionals. The geneticists described him as a conundrum, as he clearly wasn’t a typical case. They decided to repeat the genetic testing to confirm the DDD results, and take it from there. They also enrolled us on the 100,000 Genomes Project, to see if there was another cause for his difficulties. Specialist eye tests showed some issues with the rod cells on his retina.

Eventually we were told that the tests confirmed the DDD results, however the mutation is one they have never seen before, so because of his presentation they cannot confirm or deny the diagnosis. They would await the 100,000 Genomes Project results and then decide what to do with him. After thinking we had our diagnosis, we were back into the land of the unknown. This felt like a real blow. We had pinned all our hopes on the DDD study, yet here we were back at the beginning again.

Ultimately, a diagnosis will never define Joel, and we now acknowledge that we may never get the answer we want. At present, all his issues, plus the coat hanger we have been given, are sitting in a box in the corner of the room. For my own peace of mind, I have had to tidy it all away as best I can, otherwise the whole process of searching for a diagnosis becomes overwhelming, and detrimental to our lives. Yet still, I look out for a letter in the post every day, and hope to one day get the coat hanger that will allow us to hang everything up neatly and in a way that explains Joel. He continues to baffle doctors: just recently further eye testing revealed results that a very experienced consultant has never seen before and cannot explain. He has regular, sudden episodes of illness that don’t appear to have a particular cause and no-one can explain.

I hope all this doesn’t sound too negative. Although we are having a bit of a bumpy journey towards diagnosis, we are grateful to be able to participate in these ground breaking projects, and we firmly believe that this research is gathering information that will be life changing in terms of both diagnosis, and care and treatment, for a great many families both now and in the future.