Metatropic Dysplasia with Peripheral Neuropathy: Ruben’s Story

The story of Jane

Our son Ruben was born on 23rd May 2011 with a very rare disease called Metatropic Dysplasia (MD). MD is one of about 200 types of dwarfism or skeletal dysplasia, meaning problems with the form and growth of the bones. MD is caused by a change in a single gene known as TRPV4; a random spelling mistake in a DNA sequence.

Ruben was born with chest, spinal and limb abnormalities and other symptoms. A geneticist diagnosed Ruben at two days old based on his appearance and x-rays (his blood had to be sent to a lab in Germany for genetic testing and MD was confirmed two months later). A doctor wrote down ‘Metatropic Dysplasia’ on a piece of paper and handed it to us. He told us to go and Google it as they had never heard of or seen it before; Ruben was the first known case in Scotland. We thought that this might go in our favour, in that Ruben would get more attention and treatment, but we couldn’t have been more wrong.

So we took Ruben home and read lots of terrifying medical literature. Then we found a reassuring blog about raising a child with MD by a parent in the US and also a Facebook group with ‘MD families’ from all over the world. However, Ruben seemed to be more severely affected than the other children and this worried us a great deal. He hardly moved at all, was floppy and his breathing was very noisy. Ruben hadn’t been breathing when he was born, but had recovered well after a few days in intensive care and the doctors weren’t concerned about any ongoing respiratory problems. However, they hadn’t picked up that Ruben had major problems with his airway and also a broken leg from the birth.

From what we’d been reading about MD and told by the parents in the US, we thought that perhaps Ruben’s spinal cord was compressed. One doctor said that ‘sounded reasonable’ but even if it was ‘there was nothing that they could do’. Another doctor insisted that we had a ‘well baby who was just significantly deformed’. It became clear that the available expertise and approach to treatment in the UK was very different than in the States. Some doctors were reluctant to put Ruben under for MRI scans in case he didn’t recover, never mind attempt major surgery.

It was an overwhelmingly scary and isolating time. We got to crisis point and pleaded for help and support via our GP and health visitor. They advocated for us at a time when we needed it the most and got us access to support services. Help came in the form of an amazing person to care for Ruben and a genetic counselor who helped us try to make sense of it all and find the strength to cope.

Soon Ruben became extremely ill and was admitted to hospital. A tracheostomy (breathing tube) had to be performed at ten weeks old during an operation to simultaneously remove hernias and investigate Ruben’s airway. Finally Ruben was no longer struggling to breathe and he began to move his arms and hands more. Then he began to smile and we felt that everything was going to be ok. It was a huge turning point for all of us.

With us now having gained knowledge, strength and confidence, we pushed for a care plan for Ruben and ended up with over 20 doctors and health professionals, all concerned with their own piece of Ruben. Over the next year we spent a lot of time at clinic appointments, having the same conversations over and over again. Ruben’s medical records had grown to be so large by this time that no one had time to read them before appointments and keep up with the complexity of his condition and any new developments across all the different clinics that we attended. We repeatedly asked the same questions, such as why Ruben didn’t move his legs, why his muscles seemed so weak and how his other symptoms fit with the MD. We didn’t get satisfactory answers. Often we were told simply that it wasn’t their ‘part’ of Ruben. It was a bit like having lots of pieces of a jigsaw puzzle with no one attempting to put it all together and see the bigger picture.

So it was up to us to conduct our own research. We found recent literature, which told us that the TRPV4 gene change could cause both bone and nerve conditions and new research articles showed that it was possible for both to occur in the same individual. As hard as it was for us to believe, we began to suspect that Ruben had another undiagnosed condition caused by the same gene change, which would explain the symptoms that didn’t seem to be caused by MD. We sent our findings to the geneticist. Then we got the opportunity to share them with a neurologist who came to see Ruben on the ward during a hospital stay following a heads-up from the geneticist.

Just by looking at Ruben, particularly his hands, the neurologist could tell immediately that he had problems with his motor nerves. He listened to our concerns and went to read up on TRPV4-related neuropathies and came back the next day to share his thoughts. The new diagnosis of ‘Metatropic Dysplasia with Peripheral Neuropathy’ was extremely rare and we have never managed to find anyone else with the exact same combination of conditions even through contact with the leading doctors and researchers worldwide.

Life changed again for us at that point. We finally had the answers we had been searching for, but heartbreakingly it was confirmed in October 2012 that Ruben’s condition was terminal and that he was receiving palliative care. Ruben was put under the care of the neurologist and the neuromuscular team at Yorkhill and we were referred to the children’s hospice Robin House. The neurologist was doubtful Ruben would survive much longer but Ruben had beaten the odds before and we were optimistic that he would do so again.

We decided which appointments and therapies were helping Ruben and which weren’t. We didn’t want to waste any more precious time spending hours in waiting rooms or waiting in for home visits, or putting Ruben through painful tests, which wouldn’t result in any treatment. We wanted to get out and enjoy life with Ruben and keep him as comfortable and happy for as long as we possibly could.

Sadly, things took a turn for the worse when Ruben’s condition notably deteriorated in February 2013 following a few colds. There was no longer enough space for one of his lungs, his muscles were getting weaker and he became dependent on oxygen. We were warned that Ruben was very vulnerable and would probably not survive a chest infection or an operation to put a feeding tube in. Everyone agreed that it was best to try and keep Ruben out of hospital from now on for both his survival and his quality of life. His next growth spurt would also be dangerous, as it would put too much pressure on his internal organs. Although we were reluctant to accept it, for a little person, he was getting to be quite tall.

Amazingly, our tough little man stayed well and happy until he took his last breath, with no particular warning, during his usual morning routine on 1st October 2013.

Ruben was such a special person, not because of his rare disease, but because of his unique spirit and endearing nature. That spirit will be with us always and we are so grateful for having had Ruben in our lives.