Deborah Hughes is mother to Rebecca, Olivia and Adam. Rebecca and Adam both have RAPADILINO syndrome and Olivia carries the gene. Deborah talks to us about Rebecca and Adam’s journey with the condition
RAPADILINO syndrome is a rare condition that involves many parts of the body, bone development is especially affected, causing many of the characteristic features of the condition. These include underdevelopment or absence of the bones in the forearms and the thumbs, the kneecaps (patellae) can also be underdeveloped or absent, an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.
Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals. (NIH)
Rebecca’s story with RAPADILINO syndrome
Rebecca was born weighing 6lbs 3oz and as far as I knew then everything was fine. I’d had no problems during pregnancy and she arrived on her due date. Yet, straight away she was sick after every feed, didn’t gain weight and she was classed as failure to thrive. At eight weeks old she had her first appointment with a paediatrician, who she saw regularly. Rebecca had all sorts of tests done for allergies, celiacs disease, and many other things, but nothing was found.
When she was a toddler we even saw a geneticist, but after many months nothing was detected and that was the end of that.
She spent the first few years of her life in and out of hospital every few weeks. Picking up every infection going, including numerous gastrointestinal bugs, which often led her to become dehydrated, and so she was back in hospital on a drip each time. I came to know the hospital so well and after one particularly long stint, felt like I was scared to bring her home, it felt much safer there under constant medical supervision. As the years passed and she started school, apart from a fractured elbow from a fall off a trampoline when she was four, several bouts of tonsillitis and a few other infections, things did seem to settle a bit.
However, it became apparent that she was much smaller than her peers and didn’t grow very much. Clothes and shoes lasted her for a really long time and her little sister, Olivia, started to overtake her in height and weight, with clothes and shoes being passed down to Rebecca from Olivia instead of the other way around.
Olivia thankfully doesn’t suffer from the syndrome but does carry the gene, there’s potentially a 1.4 million chance she’d meet a man with the same gene and a 1 in 4 chance they’d have a baby with this syndrome.
At this point Rebecca still had not been diagnosed.
Adam’s story with RAPADILINO syndrome
Fast forward to 2012 when I was pregnant with Adam. At first everything seemed fine and he was a real wriggler but towards the last couple of months of the pregnancy I felt he wasn’t growing much, but when I expressed my concerns I was assured he’s measuring as he should be and everything was fine. In the last six weeks of pregnancy I had pre-eclampsia and they monitored me closely. A week before my due date I went in for monitoring and they told me my blood pressure was sky high and they admitted me. A short time after admission they took me to critical care as my baby was in distress and I had an emergency C-section, Adam wasn’t breathing. He was born at just 5lbs 4oz and just a few hours later the nurses took him for blood tests.
For another three years we spent so much time in and out of hospital, just like Rebecca, Adam picked up every infection and bug. He had severe chicken pox at just four months old and his doctors said they’d never seen such a severe case in a young baby. He was hospitalised again for four days. On another occasion he was so poorly he spent 10 weeks in a lethargic and sad state. His normal.
Adam’s personality is and always has been so happy, always laughing giggling and generally just smiling, through every illness, but this time, for ten weeks he just sat on the couch or lay on my shoulder. He never smiled in all that time, no laughing no crawling, it was truly heartbreaking. I wasn’t sure I’d ever get my laughing boy back again. He did eventually come out of whatever it was and got back to his happy self, but he didn’t gain weight very well and is much smaller than other children his age. He was so thin you could see his ribs clearly even now if he has no top on. He had a rash when he was three which eventually led to his diagnosis. It didn’t itch or bother him but it stayed for several weeks and it was only when a colleague of the geneticist mentioned it looked like a rash associated with Rothman-Thompson syndrome, that they delved into it further. As it turns out that syndrome overlapped with two others, one being RAPADILINO Syndrome!
With Adam’s diagnosis in August 2015, Rebecca was then tested a few weeks later and was also diagnosed with RAPADILINO.
About RAPADILINO syndrome
This syndrome affects the bones and joints. There is slow growth and slow weight gain. Rebecca and Adam are prone to easy fractures and their immunity can be low so they pick up bugs and infections easily. They are also predisposed to two different types of cancer, osteosarcoma (bone cancer) and lymphoma. They are monitored very closely and have regular MRI scans and blood tests to keep a close eye on possible developments.
At the time of writing, as far as we know, there are 24 cases in the world! Twenty in Finland, one in Israel, one in Belgium and my two children here in the UK as well as one other little girl in the UK.
It appears that most cases can differ quite a bit from each other. I sadly know that many cases have had to deal with cancer and amputation of limbs, in particular the leg. It’s the worst part of this condition although the constant pain and discomfort is also heartbreaking to watch in your child. Pain relief helps to a point, but never seems to take it away completely.
Adam and Rebecca today
For my son, who is now seven, he suffers with pain in his legs but thankfully not all of the time. He has had two operations on his thumbs as he was born with both thumbs with no knuckles or muscle. He can now use them but not very well and they’re not very strong. He still largely uses his two main fingers to write and do buttons etc.
My daughter Rebecca turned 15 on 6 September, over the last few years she has suffered a broken coccyx bone and has been treated for a fractured knee, although later on this became apparent that it’s the way her knee joint has grown and it’s not actually fractured. Four years ago she had another episode of what we thought was a fractured knee and walked with crutches for about a month having a lot of pain in her knee and leg. This settled down and she was OK for a while apart from intermittent pain in her legs.
Ten months ago she started to suffer very badly again with her knees and legs to the point she couldn’t walk and was given crutches and very strong painkillers by the hospital. Unfortunately, this doesn’t appear to be an episode and doctors now believe this is the way it’s going to be for her permanently. She’s had to give up her dream of dancing and playing football and she’s suffered in other, more personal ways too.
It has affected her massively and she’s had a lot of time off school. She has fallen a few times when her knee has given way and she has to be physically picked up and helped back to the couch, she is distraught when this happens and questions us, asking if this is it for her now, and will she never be able to go back to doing normal things again? She puts on a good front for other people because she feels embarrassed and self conscious and isn’t good at showing people, even family, how she’s actually feeling and how much pain she’s in. Sometimes she gets really scared as she gets pains randomly, and not always in the same place. The pain is either in the back of her knees or legs but in recent weeks her arms have started to ache a lot and it worries her all the time. She’s on a lot of painkillers three to four times a day, every single day!
The chances are we will go through something similar in the future with Adam but at least we’ll know roughly what to expect.
I would like to be able to raise awareness of this syndrome. I am still hoping to find a medical professional I can speak with that has had direct dealings with this syndrome. Our consultant is wonderful, both he and the nurse are really supportive and always try to put our minds at rest when we see or speak to them, but the constant worry and fear is always there.
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