Since getting her recent genetic diagnosis, a positive FISH test for Williams Syndrome, it’s been a busy few months for myself and Linda.
We’ve been to so many hospital appointments, catching up on all the tests and scans that a child would have had over the years but which Linda never received during her youth. It’s been a bit overwhelming for me but I think Linda has rather liked the attention of all of the doctors, nurses and technichians.
The latest appointment was for a doppler scan of her kidneys. I think this is screening for renal artery stenosis, a narrowing of blood vessels to the kidneys which may result in very high blood pressure. Many people with Williams Syndrome have high blood pressure, often because of aortic stenosis but apparently, the renal arteries and others can also contribute to problems. Like I said, Linda is playing catch-up with all these tests.
The letter informing us of the appointment went: “This is a non-invasive ultrasound scan”, it explained, “and at the same time we will also scan the bladder so…” and the letter continued “Drink one and a half pints of water an hour before the appointment and don’t empty your bladder until after the scan.”
Well.
I think that many people with Williams Syndrome have issues with frequent urination. Linda certainly does. I don’t have any specialist knowledge but observations tell me that keeping Linda from the toilet for an hour can only be achieved in the absence of liquid consumption, not after having drunk a pint and a half of water. Not a chance that we would succeed in following those instructions!
It’s not that Linda is incontinent, just she needs to go frequently. It’s something that can be managed but isn’t easily compatible with consumption of large amounts of liquid. How do you explain that to an adult with special needs?!
I started with a cupful of water and making sure Linda went to the toilet an hour before the appointment…
We drove to the hospital arriving 30 minutes early as I hoped to drip-feed her with more water… And, predictably the first stop had to be – yes – a visit to the loo.
OK, more water! Then a distracting wander around the hospital bookshop.
Five minutes before the appointment and we enter the waiting room of the Ultrasound Department for the scan.
Will we make it?
Yes, and No. We made it on time but, no, we needed to visit the toilet again!
Three minutes to go… more water… Fortunately we are kept waiting for 10 minutes… more water, more water… and then into the cubicle for the scan.
In ten minutes the scan is complete.
Linda leaves the cubicle, knees clamped together and heads straight for the toilet again.
I have no idea whether there was enough liquid in her bladder to get a satisfactory image in the scan but I do know she couldn’t have done any better at trying!
As she came out she looked at me and very unusually exclaimed “And no more water!”.