It just occurred to me, randomly at teatime there, that today is the 20th anniversary of Joff being diagnosed with Lowe Syndrome.
When he was about 6 months old, he had some bone marrow taken from his hip bone for chromosome analysis, having previously discounted Duchenne’s muscular dystrophy, rubella damage and Maple Syrup syndrome.
The chromosome analysis wrongly threw up a cell – one cell out of a panel of 60 where there was an extra chromosome at number 18 and he was diagnosed for a time with a mosaic form of Edward’s syndrome. Pure Edward’s syndrome or Trisomy 18 is a truly awful syndrome, the children die very young and have major heart defects. So they scanned Joff’s heart and thankfully, it was pronounced normal. The other thing that was observed was the way he held his hands, with his thumb tucked in-between his middle and ring finger, a distinctive marker. So for a while #TeamFisher aligned with a Trisomy support group called SoFT which supported families living with Edward’s syndrome and Patau syndrome, where the extra chromosome is at number 13.
There were many families affected by loss and grief in that group and one letter still sticks in my mind today. On the day of their infant son’s funeral, the mum and dad took a walk on the beach afterwards, idly picking up green beach glass. Mum wrote a lovely description of how we expect our children to arrive perfect, whole and functional like a bottle, only sometimes to find they arrive broken and jagged, possibly un-lovely at first glance. Then the sands of time soften those jagged edges and living with such children becomes something new and different but no less un-lovely, they have a beauty all of their own.
And so as far as I’ve been able, I try and send a piece of beach glass with the story to friends whose disabled children have died, and hope it resonates.
Anyway, the mosaic trisomy diagnosis turned out to be a simple artefact – the dyes used to stain chromosomes are so powerful they sometimes distort the true picture and we were back to square one.
We went to the Raeden Centre in Aberdeen when Joff was just over a year old for a “developmental delay MOT”. A week long battery of interviews and tests and observations by doctors, therapists and nursing staff. One of the tests was to collect a simple urine sample from both Joff and I. Getting a sample off Joff involved a plastic bag with a structured top, surrounded by sticky tape to tape over his groin and hopefully catch some urine. His sample came back with very odd results. Joff was at the right age to begin manifesting his Fanconi syndrome, wasting albumen, glucose, some low molecular weight proteins but most importantly, bicarbonate into his urine. He began bicarbonate and phosphate therapy. Both gruesome tasting substances that we disguised with Vimto squash – the bicarb turned the drink greenish but we got the meds in.
So the geneticist now had a better idea of where to aim the next tests. They took a skin punch from his arm, twice, where a little gadget like a gun literally cuts out a small circle of skin for culture and analysis of the fibroblasts. The first sample was used up to no avail but the second went to Baylor University in Texas where the world’s first laboratory was able to perform a biochemical analysis to diagnose Lowe syndrome. We had been shown a photocopy about Lowe Syndrome from the Contact a Family directory of rare diseases and the lad in the picture could have been Joff’s brother! We now felt sure that this was the syndrome Joff was affected by, we just needed to wait for the test to be complete. The geneticist was kind but blunt. “He may live till he’s two or ten” And some other info about a variant of Lowe syndrome with a skeletal component. As it goes, neither of these bits of information were true. But information was so scant, so pre-google that we were just grateful for *some* idea of what was ahead.
As the inheritance of Lowe goes, it passes down the female line, or can be a one-off thing. I can honestly say I never felt guilty for passing Lowe onto Joff, I didn’t do it knowingly or on purpose, just a part of life that we had no idea, no control over. Mr Effie took it hard. He was convinced that something in his past had caused Joff’s disabilities and blurted out “I’m glad it’s not me”. I was glad too, because I never saw it as a thing to blame anyone about.
The test result came back negative for Lowe. We were floored. I wrote to the founder of the Lowe Syndrome Association, Kaye McSpadden and asked her for help. She gave me the email address of the wonderful Dr Bob Nussbaum and said he would be happy to look into it. Dr Nussbaum asked me detailed questions about my family history, Joff’s pregnancy, birth and symptoms. He strongly suspected Joff had Lowe and offered to run the test again, personally. Joff’s result came back. He had only 3% of the affected enzyme and it was working at low efficiency too. As far as I can tell, Joff was the first in the world to be given a false negative result for Lowe.
And so Robert Burn’s Day 1996 was the day we finally knew Joff had Lowe. 20 years of thinking about Lowe every day, sometimes with rage, sometimes with grief and loss , often with gratitude that it brought the Bold Joff into our lives, one in 500,000 and yet, one of Jock Tamson’s bairns. A magnificent journey and one that I’m sure Burns would have enjoyed.