Reuben – Undiagnosed condition
Reuben is 3.5 years old and has a rare undiagnosed genetic condition.
Rare Undiagnosed condition
Reuben’s path to a diagnosis has been a long and complex one, and he’s not there yet. Doctors have been trying to unravel the mystery of his condition after since before he was born.
During pregnancy, the 12 weeks scan revealed that Reuben had hydronephrosis of the left kidney. Reuben was born at full term, but by emergency C-section, as he had bradycardia during labour, where his heart rate was consistently low. When born, it was noted that Reuben’s testes had not descended into his scrotum but we were reassured that this was common and that they normally descend without intervention.
Reuben had his first scan 3 days after he was born – an ultrasound to check the size of his dilated kidney and to check the position of his testes. This revealed the kidney was still large, and that his testes were non-palpable. It wasn’t until around 8 months old when Reuben had a MAG3 renogram to check the function of the kidney which found there was a blockage just below the kidney.
Reuben was placed onto the waiting list for pyeloplasty surgery to repair this, and to start the 4-stage (2-stage for each testis) orchidopexy operation to bring his testes into his scrotum. He had this operation at around 10 months old. The surgery for his kidney was successful and the function for this kidney is now 40%. The first stage operation for his testes was also deemed successful, as was the second stage operation, however over the coming months this testis atrophied and has essentially wasted away. Reuben has now had the first stage for the other testis, and he is currently awaiting the final surgery to bring this one down. Should this testis also atrophy Reuben will require hormone treatment when he is older.
During a hospital visit in the early months of life, the doctor noticed Reuben had a heart murmur and was referred to a cardiologist. It was found that Reuben had a patent ductus arteriosus (PDA), a ventricular septal defect (VSD) and an atrial septal defect (ASD). Fortunately, these were deemed fairly minor. We were told these were common and that they would all likely close over the first few years of life. The ASD closed up within the first 6 months, and by 1 year old the VSD had also closed. The PDA currently remains, and Reuben is likely to require a catheter closure of this within the next year.
Reuben failed to thrive in his early months of life – he wasn’t meeting any of his milestones, he was struggling to feed; he generally wasn’t developing as he should. We were told Reuben had silent reflux and he was prescribed Gaviscon which helped initially. We were then told he had tongue tie, which was subsequently cut, and this also helped, but he continued to struggle with feeds. Reuben’s breathing became very rattly, he would always sound chesty, and he was continually picking up respiratory infections. We were told Reuben likely had a floppy larynx which was incredibly common and that it would improve by 6 months of age. When it didn’t improve, we were referred to the asthma nurse who did some x-rays and tried some different inhalers, and different antibiotics. The x-rays were normal and none of the treatments worked, so we were then referred to an ENT doctor at another hospital with possible laryngomalacia described on the referral. Reuben was booked for a microlaryngoscopy and bronchoscopy (MLB) to investigate further.
Around the same time, we were finding it really difficult to move Reuben onto solid foods – he would cough and splutter frequently, spitting out anything overly lumpy. Reuben’s speech and language therapist diagnosed oral dysphagia (problems with feeding and swallowing). Reuben underwent the MLB procedure at around 2 ½ years old, and it found that Reuben has a grade 1 subglottic stenosis, and a type 1 laryngeal cleft.
With these new diagnoses, alongside the oral dysphagia and Reuben’s poor fluid intake, it was deemed necessary for him to have a nasogastric (NG) tube for all fluids, which he still has. His solid foods are now texture modified and are mostly pureed. Reuben underwent laryngeal cleft closure surgery at 3 years old, which was thought to be the main cause of his feeding and swallowing issues, however, this proved unsuccessful and the issues still remain – now thought to be linked with his genetic condition, brain condition, autism, or a combination of these. Within the coming months, Reuben will have his NG tube replaced with a gastric feeding tube..
When Reuben was not meeting milestones, and with a number of congenital issues revealing themselves, Reuben was referred to a community paediatrician who booked him for a brain MRI and referred him to a geneticist at GOSH. The initial report from the radiologist described mild periventricular leukomalacia (PVL), a diagnosis which the neurologist agreed with, even though Reuben wasn’t premature and he didn’t appear to have any sign of cerebral palsy. We processed this but it never felt quite right. Reuben’s geneticist agreed with us and arranged for a second opinion from the radiology and neurology departments at GOSH. GOSH didn’t agree with the PVL diagnosis and have instead diagnosed cerebellar tonsillar ectopia (or Chairi malformation type 1) which is much more in keeping with Reuben’s presentation.
Reuben’s eyesight and hearing have always been fairly poor – he has been diagnosed with delayed visual maturation with signs of nystagmus, he wears glasses to correct his long sightedness, and he has grommets in both ears to improve his hearing. Reuben continues to have check-ups for his eyesight and for his hearing. He’s recently undergone an electrophysiology test for his eyes which we’re awaiting results for. We’re also awaiting the first hearing test since his grommet insertion to ensure that the loss is only conductive, and not sensorineural.
At around 6 months old Reuben had bloods taken for karyotype and microarray testing. We waited a number of months but both came back normal. By the time Reuben was under the care of the GOSH geneticist, both the DDD study and the 100,000 genomes project had finished. Fortunately, after a short wait, the NHS began whole exome sequencing (WES) and Reuben was accepted. Again, we waited a number of months and again, there were no significant changes recorded. By this point the geneticist was leaning towards a diagnosis of a rare condition called Myhre syndrome, however, a skeletal survey proved this wrong as there were no abnormalities to Reuben’s bones (something seen in all Myhre children).
Fast forward to today and Reuben’s just been accepted for the next stage of genetic testing on the NHS – whole genome sequencing (WGS). We continue to wait for any results 9 months on. We have come to terms that this may also not give us a diagnosis, however, we remain hopeful. Reuben has also recently been enrolled on a Genotype and Phenotype Research Study at Addenbrookes hospital, who seem very interested in Reuben and who will likely run their own WGS testing in due course. In addition to Reuben’s medical presentation, he also has a number of dysmorphic features including small and low set ears, deep set eyes, a wide nasal bridge, short stature, a single palmer crease, and puffy hands and feet.
Reuben is still under the care of 17 specialists across 6 different hospitals, and we visit for appointments or procedures, on average once every 2 weeks.
How do these medical conditions affect Reuben’s day-to-day life? And how does it affect your day-to-day lives?
Fortunately, most of the medical diagnoses don’t tend to directly affect Reuben’s day-to-day life – it is mainly only the cerebellar tonsillar ectopia that does, which causes issues with his balance, with his coordination, his speech, and his vision. His NG tube and oral dysphagia also mean a more considered approach to drinking and mealtimes.
Aside from Reuben’s complex medical presentation, he struggles more in day-to-day life with his mental and physical health. Reuben has autism, global developmental delay and is currently non-verbal. He struggles with social communication and interaction, he suffers from severe frustration behaviour, and he is currently awaiting an assessment for sensory processing disorder. Reuben also has an EHCP in place at nursery as he has special educational needs and requires constant 1:1 care. These arguably affect us as parents more than the medical side of things as his behaviour is increasingly challenging.
How do the many trips to hospital affect Reuben? How do they affect you?
We are unable to communicate hospital visits to Reuben as he doesn’t understand, which is difficult, but it can also be a blessing as he’s unable to get upset in advance at the prospect of these visits. We feel that part of Reuben’s aversion to being touched stems from being prodded and poked so much as a baby which is unfortunate, but generally, he doesn’t mind hospitals. Obviously, the longer stays following surgery are draining for Reuben and for us.
We often say we feel more like Reuben’s secretaries rather than his parents, which is sad but sometimes true. There is not a week that goes by where we are not making appointments, chasing appointments, filling in paperwork, researching conditions or procedures, and it all takes its toll; it’s exhausting and often overwhelming. We both still work full time jobs and are very fortunate that we are given the flexibility to allow us time off for Reuben’s appointments. Without this flexibility, one of us would have had to give up our job by now.
What support do you currently get? Do you feel as if you could use more?
Up until a year ago, support was lacking and we felt very isolated as a family. The support we now receive is great; we are members of the Syndromes Without A Name (SWAN UK) charity which provides support from a huge network of parents, and we have recently discovered Cambridge Rare Disease Network and their Unique Feet group which is a really amazing group of families who have welcomed us with open arms; we feel a sense of belonging and comfort here. We also have respite care for Reuben at PARC Essex, and receive more direct parenting support from a volunteer at Home-Start Essex. We’ll also shortly be receiving some help from Essex County Council’s Children and Young People’s Support Service (CAYPS).
How does not having a full diagnosis affect you? What would getting a full diagnosis mean?
Although we have fantastic support, without a diagnosis we still feel lost, and uncertain about what the future holds for Reuben. We understand that a diagnosis is unlikely to change our day-to-day lives, however, it would hopefully allow us to plan a little better, to understand what Reuben may or may not be able to do in the future. It would give us a sense of peace in having a name to put to his condition, and it would also somewhat reduce the constant appointments and the stress and anxiety that come with these.
What are your hopes for the future?
Reuben will start at a special school in September which we’re thrilled about as we really feel he will thrive there, and we’re sure this will set him up well for whatever the future holds. Our overriding wish is for Reuben to be happy in life. There are so many ‘bad’ days where it feels as if he’s at war with the world, and we’d like for the ‘good’ days to outweigh these. We fully understand that Reuben’s condition is likely to be life-long, or perhaps in severity only confined to childhood; regardless of which, we will continue to support Reuben and nurture him. We’d love to receive a diagnosis one day, however, we’ve also come to terms with knowing that we may never find out.