As my high school chemistry teacher used to say: “Let’s return to first principles”.

I first heard the phrase “Lowe Syndrome” on 25th January, Robert Burns Day, 1996, when our geneticist came back with this diagnosis for Joff. This was the second diagnosis that had been made, the first being mosaic Edward’s Syndrome or Trisomy 18. The tale of diagnosis can be told some other time. But every single day since that one I’ve had the phrase “Lowe Syndrome” in my head – sometimes as a hook to hang problems on, sometimes, something to rail at, other times a reminder of the great fortune our son brings us…which reminds me of the time an email buddy wrote back to say “sorry, I misread your text, I thought you’d written that your son had Love Syndrome”.

So to understand more about Team Effie, it seems only apt to let you know some of the background to Lowe Syndrome and the Lowe Syndrome Association Inc. I am going to assume a level of knowledge about medical terms but please feel free to stop me in the comments box and ask about anything I haven’t made clear. If I can’t answer, I’ll endeavour to find someone who can.

Lowe Syndrome was first described in 1952 by a team of three doctors working at Massachusetts General Hospital in Boston, USA. The team consisted of Dr Charles Upton Lowe, and Drs Terrey and McLaughlin. Dr Lowe, being the senior doctor got his dibs in to name the syndrome. They noted features of three males in their clinic with “congenital cataracts, mental retardation and kidney problems”. With three organ systems being affected, the syndrome is also known as oculo-cerebro-renal syndrome, or OCRL. (The L stands for Lowe.) In time they came to realise that only males were affected and this indicated genetic involvement on the X chromosome.

In 1978, a lady called Kaye McSpadden from Indiana gave birth to her own son with Lowe. Her son, Leland, went through a battery of truly horrible testing to try and diagnose him. In her ever-practical way she decided to reach out to other people, Kaye wrote a letter in 1981, describing Leland and his medical problems to a USA magazine for parents of children with disabilities called “Exceptional Parents”. This helped her to get in touch with 6 families affected by Lowe. And from “a postage stamp”, the phenomenon that is the Lowe Syndrome Association (LSA) found its beginnings.

The accomplishments of the LSA are mind-bogglingly amazing considering the rarity of the condition and the fact that it is a non profit charity run by volunteers who don’t take so much as the price of a cup of tea from the income.  The LSA has been fortunate to have a long term core of doctors and researchers whose patient, painstaking work has uncovered the ORCL gene on the X chromosome and its recessive inheritance pattern, what protein it codes for, a biochemical diagnostic test for LS as well as prenatal diagnosis…in recent years, prenatal genetic implantation has become possible for families affected by Lowe. These are only a few of the significant pieces of knowledge uncovered over the past 31 years. Sadly, Kaye’s son Leland died in 2000, aged 22.

But what is Lowe?

Almost all our boys are born with bilateral cataracts, some have good or functional vision, and others are blind. 50% of boys develop glaucoma, 50% develop epilepsy. They have a wide range of intellectual disabilities from mild to profoundly affected. They have low tone (hypotonia) in their muscles and around 1 year old they develop a kidney disorder called Fanconi syndrome, so-called “leaky kidneys” and renal tubular acidosis. They can also develop some or all of the following – scoliosis (curvature of the spine) fibromas, keloids, arthritis, skin cysts, short stature, rickets, osteoporosis, and challenging and self injurious behaviours, OCD, autism and shorter life expectancy – around 30 – 40 years. There’s a few other things but they’re too numerous to list. It is an extremely complex syndrome. “Our Boys” have a characteristic look about them, partly the dysmorphology of Lowe and partly like their own parents. Most boys with Lowe are cheerful and loving, but can be distant and rejecting. It is a spectrum disorder so even when two brothers or cousins are affected within the same family, no two boys are alike.

If you have a few minutes please pay a visit to our website

The LSA recently have been the beneficiaries of a total website revamp and it’s turned out so well, you can see pictures and stories about our boys that we hope will encourage newly diagnosed families in the challenges they face and show them they’re not alone.

In The Next instalment: How does Lowe Syndrome affect our bonny Joff?