I hope that my story will give you a small insight into the journey of living with someone with a ra…
During our NICU (neonatal intensive care unit) stay I couldn't help but look around at all the little premature babies that surrounded us and think just how big Penelope was. She was a very healthy 8lb13oz. One of her 'neighbours' was barely the length of her legs, but they all had one thing in common - they were poorly and needed to get better before they could go home.
The difference was that with the premature babies they knew what was 'wrong'. They had arrived early and needed a helping hand with breathing while their lungs developed or help feeding until they were strong enough (generally speaking some did have more complex care needs). However, for us we didn't know why we were there. Penelope’s serious breathing problems had been "fixed" thanks to ECMO (extra corporeal membrane oxygenation). However, her low blood sugars remained a mystery. I couldn't help but think it was diabetes but we got told very early on that it wasn't. Yet she was dependent on quite a high concentration of dextrose to keep her blood sugars at a safe level.
I can wholeheartedly sympathise with any parent whose child is in NICU with a rare, genetic condition not picked up on during pregnancy and waiting for the results of test after test. The waiting was utterly agonising - I just wanted to take my new baby home.
The severity of her blood sugar condition didn't kick in until we got our diagnosis. Penelope has congenital hyperinsulinism (HI). It is viewed almost as the opposite of diabetes. The pancreas secretes too much insulin and therefore causes (potentially fatal) low blood sugar. Luckily for us, Penelope responded very well to medication (babies that don’t can require a full pancreatectomy). We just had to be careful if she was sick as this would cause her sugars to plummet dangerously low.
I began to feel better after we took her home. Little did we know that our 'rare disease journey' was not over yet - we soon found out that Penelope had ANOTHER rare condition.
We met with an endocrinologist some time after bringing Penelope home (after several trips in and out of hospital with hypos and medication increases) and we learnt more about HI. We remained hopeful that Penelope's case was transient (something she could eventually grow out of). She had a ‘fast profile’ to check how her sugars handled no food and she did brilliantly. They took lots of blood for yet more tests to try and find out what was causing her HI.
Several weeks later we got a phone call asking us to come to clinic to discuss the results. They couldn't tell us over the phone. It was a completely agonising week. I knew deep down that they had found something. I just didn't know what.
We met with the same endocrinologist, he sat us down and explained to us that Penelope had a very rare condition called Beckwith Weidemann syndrome (BWS). I had already read about this as it kept appearing when I researched HI.
BWS is an overgrowth condition with many different symptoms, ranging from low blood sugar to hemihypertrophy (where one side of the body is longer than the other). A general characteristic is a protruding tongue (we always thought Penelope's peeked out a little!). However, her symptoms were subtle. She certainly had the low blood sugar (we later found out this was due to an enlarged pancreas meaning it secreted too much insulin) and a mild case of macroglossia (enlarged tongue).
Had it not been for one rare condition we'd have never have got the diagnosis of another! And, we are fortunate that we did because one of the biggest worries that comes with BWS is an increased risk of Wilms tumour. Penelope will be regularly screened until 8 years of age (when the chance completely diminishes) so that fast action can be taken if necessary.
I have had to learn so much since becoming a mum, more than I ever thought possible! We got referred to genetic counselling, and they explained in detail what Penelope’s conditions meant genetically. In our case it is completely sporadic, so it is unlikely to occur again in the family. There were many positive aspects to focus on. The condition gets better with age - Penelope will grow out of the HI eventually as she 'catches up' to her pancreas and once past the initial hurdle of screening the rapid growth slows down. This was a massive "phew" for me as her daddy is 6ft 6, so combining that with an overgrowth condition, I thought she would tower over me before starting school (I'm a mere 5ft nothing)!
It is difficult enough dealing with a 'touch and go' situation like ours where Penelope had to be airlifted soon after birth and have a rare and invasive, last resort procedure to treat her breathing difficulties. But, then to deal with not one, but two rare conditions unconnected to this, did take its toll.
Penelope is doing marvellously considering. She is a lively 13 month old just like any other - she just towers over her friends of the same age – she is walking and talking and so beautiful! She is one in a billion for all she has been through, a genuine miracle! We were extremely lucky to get the diagnoses as it has provided us with some resolution and Penelope can get the care she needs. There's also a great network online of mums (and parents) out there who are always on hand to offer advice from experience and support.
I hope this blog can offer a little reassurance to anyone starting on their rare journey.
Help raise awareness: #howbigbws #wontchabemysugar