Angus
 |
Our family lives in Glasgow, Scotland. Fortunately the best children's hospital in the whole of Scotland and the north of England is in Glasgow, otherwise I might not be telling this tale. Gav and I have been together for 14 years. We have a 5 year old daughter and 6 months ago we had a very handsome and unique boy, Angus!
After a trouble free pregnancy, I had the kind of labour and birth you read about in touchy, feely, hippy birth books with no drugs or medical intervention. It was as near perfect as it could be except that I wasn't at home at the end. Angus was born a healthy 7lb 10oz, 10 days overdue. I noticed his oddities after birth first - Hmmmm 6 toes on each foot, 6 fingers on each hand.....his fingers look a bit short...his arms do too...his nails are tiny....BUT he is beautiful and bright, alert, and has the most amazing dark eyes. So intent. Needless to say the paediatrician was called back in. She didn't know what he had, neither did the next 2. He was diagnosed the next day by the consultant who'd seen one case before - Ellis-van Creveld syndrome. Used to be called 6-fingered dwarfism in the days before PC-speak was introduced. As far as I know there are maybe about 20 families with members who have EvC in the UK (out of 55 million people). It's more common in the US where there are 50 cases in the Old Order Amish community in Lancaster County. It's an autosomal recessive disorder. We have no family history of it.
Two days later he had an echocardiogram - partial AVSD - I was gutted and sobbed my eyes out for the first time since he was born. I really didn't mind his other differences, but this threatened his life. We were assured it was fixable, and would probably wait until he was a year old. "Take him home and treat him like any other baby." So we did until he was nearly 4 weeks old. He wouldn't feed and his breathing had developed a funny catch at the beginning of breathing out. He was so tired and I felt nauseous with fear.
A nightmare unfolded in A&E where they found his sats were 27% (he wasn't blue because his blood mixed in the heart), his heart rate and blood pressure were over 200, his breathing rate was climbing further and further towards 200bpm. He was sheet white, lashing with sweat, screaming soundlessly because he had no breath left, and still fighting with all his might against the doctors as they tried to get lines into him. He ended up paralysed, sedated and vented in PICU.
He had 2 open heart ops over the next 3 months. After each he went through a recovery period where it looked like he would be ready to go up to the ward on nasal cannula, but then his breathing would deteriorate and he'd start having pulmonary hypertensive crises again. They found he had mild left bronchomalacia, but it wasn't severe enough to cause his problems. His mitral valve is moderately leaky, but not severe enough to cause his problems. His lungs are very small (short ribs is part of Ellis-van Creveld) but he was breathing fine with them before, so this wasn't enough to cause his problem.....but add them all together and they are.
So he got a trachy at 4 months and is on long term ventilation until his lungs grow big enough and his left main bronchus stiffens up enough that he can breathe fully on his own. We don't know how long this will be because so far I've only heard of 1 kid with EvC on a vent and she didn't have his heart problems - she was on the vent for 2 years. He got out of ICU last week (after 5 months and 13 days but who's counting!). He himself is bright and happy. He only ever cries when someone is doing something unpleasant to him and even then it has to be really unpleasant. He got a heelprick done for his blood gases last night and didn't bat an eyelid! He smiles at everyone and has learnt how to make sounds past his trachy tube so he chatters away at anyone who'll listen. He is an absolutely delightful boy and we are fiercely proud of him.
November 2006
Angus is nearly 2 ½ years old now. He’s still trached and ventilated most of
the time, though he’s recently started spending and hour or two at a time off
the ventilator. This happened during this summer too, but only for a couple of
weeks, then he got a cold and went back to being on the vent full time. He’s
been home for a year now with a fabulous care package courtesy of Yorkhill
Hospital Home Vent Team. Thanks to them, I’ve been able to continue working part
time, and Angus attends a standard nursery while I’m there. This has helped his
development hugely and the other kids have taken to him really well. He was put
into the Baby Room at first, which is what he needed, but we’re now working
gradually to move him up to an age-appropriate room. He’s started going there
for snack time and the other kids say they will look after him – isn’t that
sweet?
We started teaching him sign language because we weren’t sure if he’d be able to
talk with the trach and vent. He got up to a vocabulary of about 90 signs and
then started talking. He knows a lot of words, and makes his needs and wants
known very clearly, but he finds it hard to control his breath enough for
sentences. He can manage, “I want drink please”, for example, but I doubt he’d
manage more words than that until he has more breath. When he’s off the vent,
he’s very quiet and tends to resort to sign language more in order to make
himself understood. We’re keeping going with sign language for this reason.
As for his mobility, he is so very nearly walking! He has been bum-shuffling for
a year, but now he wants to walk as many places as possible – as long as he has
something or someone to hold onto. This presents some problems when he needs the
ventilator, but my partner and I are big people so we can sling it over a
shoulder and follow on behind. He will walk as many as 7 steps unaided, but only
if he’s got a goal he can fall forward onto. He can climb up and down the stairs
independently too, though this has become MUCH easier during his times when he
is off the vent. I wouldn’t be surprised if he is walking by the end of this
year, or January next year. He’s so determined to get about that he just keeps
trying and trying.
Angus is still not eating by mouth. He will put stuff in his mouth and move it
around, but it always comes back out again. On the rare occasions that he has to
swallow because he moves something too far back, he gags and retches enormously,
and even vomits sometimes. We don’t make a huge fuss of this, because it’s part
and parcel of getting used to oral feeding again, but it’s very slow, and I’m
not altogether hopeful he will ever eat fully orally again. The g-tube is easy
to care for, and we’d manage if he needs it forever, but I hope he can learn how
to eat again in order to enjoy my home cooking!
For the most part, Angus is a very happy, intelligent and sociable child. It
helps that he is very cute because people notice that before all his equipment
usually, so trips out and about are not fraught with people staring or anything.
He’s so used to people liking him, that on the rare occasions that someone does
stare, he just smiles and waves at them, so they melt! Because of his dwarfism,
people think he is younger than he is, so they also think he’s really clever
with all the things he can do or say. If you ask him whether he’s a big boy or a
baby, he will say, “Big boy,” so I’m dying to hear him say it when someone says,
“Awww, look at the baby!” again; they’ll get the shock of their lives!
We’ve been to a Restricted Growth Association social event at a hotel in Glasgow
in order to meet more families who have kids with dwarfism. I feel it’s
important for Angus to have some friends who “get it” as he gets older. All the
older children I met there seemed very confident and socialised so that
reinforced my resolve to keep attending any events they hold up here in
Scotland. We met some great people there and forged a friendship with one
particular family, whom we’ve swapped home visits with a number of times.
They’re wonderful people, good friends and provide Angus with some very positive
role models for when he gets older.
 |
