What is it like being rare? 

“Don’t be afraid of different. Some of the most beautiful things in the world are different. A nurse who looked after Freya when she was a very ill baby

In the grand casino of life my partner and I hit the jackpot of rare odds. Whereas statistics indicate that about 3% of babies are born with a pre-existing medical condition or a congenital abnormality, ours was born with a genetic syndrome so rare there are less than a 100 diagnosed cases worldwide.

Freya has cerebrocostomandibular syndrome (CCMS), caused by a rogue mutation of DNA neither one of us parents carry.  It causes her to have a very little jaw and some rather unconventional design both in the upper airway and the chest departments.  Currently she breaths through a tracheostomy, uses a ventilator overnight and gets exlusively fed through a little tube going straight in her stomach. Although she is doing a lot better than any professionals expected, it seems that that the trachy and the PEG are here for years to come, and that there will be a significant amount of surgery in future. As  a family, all we can do is hope for the best and fear for the worst – and try to get on with our lives despite the rare cards dealt to us.

So, what is it like being so rare?

It’s isolating – your peers are few and far apart. As opposed to those with some more well known syndromes  families with kids with rare conditions have less by way of organised support tailored for their condition.  There is rather a limited amount of information out there and the studies into these conditions are often rare too.  Funding for research into conditions affecting a handful of people is scarce, meaning new therapies and treatments do not come about often.

Internet and social media has helped families like ours immensely. As soon as doctors started speaking to us about Freya possibly having CCMS we googled for days and days.  And soo, we found others; a picture of a small girl on a ventilator sitting in front of her parents; a blog by mother detailing their journey. Soon we were exchanging emails, within days we had found another family on the UK. There is even a small support group on facebook, consisting of those with kids with CCMS and some grown ups with CCMS. And it’s through these contacts and sharing of information and experiences that has guided us through the rough times. There are also general tracheostomy and tube feeding groups on facebook that have proved to be great sources of information and support.

It’s scary and the burden of responsibility placed on our shoulders weighs heavy.  I am not entirely sure how to describe this, so bear with me. If you have a child who has a more “conventional” illness there are experts who specialise in your child’s condition you can seek advice from. However, for those who are “rarer”  this rarely exists . Don’t get me wrong there are doctors – even excellent ones – but there are no CCMS gurus to call upon.  We are extremely lucky if the doctor in front of us has ever encountered a CCMS kiddo before  – I think we have met only three who have, out of literally hundreds of doctors we have seen during our journeys across London hospitals.

And this is where the heavy responsibility on us the parents comes in; when we encounter new professionals it’s for us to pass on the details of Freya’s little habits – the higher respiratory rate, how her vent settings should only be carefully altered, how her co2 levels act. It’s for us to recount what has worked in the past and what hasn’t – and it’s for us to shoot down suggestions that may have worked on a more typical child, but could turn Freya quickly critical. Unfortunately we know from experience how important this is,  like the time when a consultant thought we suctioned Freya’s tracheostomy too much and told the night staff to limit suction, causing her tube (her airway) to block and secretions to sit in her chest leading to a particularly nasty bout of pneumonia and a month in intensive care.

The feeling of responsibility never leaves us. It’s about ensuring that our child gets what she need – whether it is acute medical treatment, surgeries, equipment or home care. It’s even about making sure that we have all the right equipment when we go to a hospital (it is scary how hospitals can lack some even fairly basic stuff). It’s about feeling like we need to be on ball 24/7.  And it’s about learning to live with knowledge that so much of it is outside our control and  coming into terms with the scary realisation that Freya’s condition is so peculiar no one really knows what to do.

But rareness is also a source of hope. With so little previous experience in children like Freya doctors can merely guess what will happen – both good and bad. We will no longer accept predictions of a gloomy future as a fact – Freya likes doing her own thing and keeps on exceeding all expectations. When it comes to Frey Frey doctors can – at best – offer educated guesses. Are we out of the woods? By no means. But should all hope be abandoned? Hell no!

Lessons learnt? Whether your child has a well known condition, rare diagnosis or remains undiagnosed become the expert in your kid. You are in the best position to do so. Do your research and remember to listen to and learn from your peers. Question, research, voice your concerns. You are your child’s voice. And trust yourself and your instincts. From my experience most parents of sick and disabled kids are doing doing an amazing job and really have learnt their kids’ conditions inside out.

P.s. Jaw update. Freya will need another distraction before they can start fiddling with her jaw joint and work on the mouth opening. She has had so many operations and was having so many infections they are giving her some time off and the plan is to see her surgery team nearer Christmas. So now we are concentrating on growing and being healthy. And, of course, enjoying the summer!

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