Undiagnosed, not always healthy, but nevertheless mostly happy

Update 13 March / People look at me in astonishment when I say my very handicapped 17-year-old daughter has no clear diagnosis. They grope for the next questions, which are usually: so when did you know something was wrong, did you have any idea what it was, do you know why or how it happened? (The answers: very early, suspected autism and maybe more, no, no clues but much speculation).

They look at me in even more astonishment when they hear the answers because we live in a world of medical miracles and rapidly advancing technology, right? So how can someone not have a diagnosis? The Wall Street Journal has finally given me some new fuel for an answer.

I’ve been a journalist for years and started my career writing articles about medicine, health and children, especially about all the good things and progress made. The irony is not lost on me that for all our hoopla about advances, we are also learning that we really know so very little about how the human body works. We understand this more clearly when something goes radically wrong.

The moderator of a parents’ and professionals’ forum I’ve been following for several years, Nancy LeGendre, shared an article with us today from the Wall Street Journal. Here is an excerpt and all I can say is Amen, but first a footnote on my daughter: after a multitude of tests she was finally diagnosed at age 11 with “atypical Rett Syndrome” by an honest but slightly sheepish, highly-regarded specialist who said, “We all agree that she doesn’t really fit the profile, but if it helps somewhere along the line to have some kind of diagnosis, maybe this can be a starting point” (I’m paraphrasing – this conversation goes back six years). In fact she is so atypical that she doesn’t fit the atypical group, so I only whip out the diagnosis as a label when I get tired of the questions.

Here’s what the WSJ has to say (the rest is worth a read, too):

Researchers say the lack of a diagnosis affects far more people than was previously thought, although precise statistics do not exist.

The National Institutes of Health set up a special program in 2008 to help undiagnosed patients identify their illness. In a survey of people with rare diseases, 36% remained undiagnosed for one year or longer, and 1-in-7 patients remained undiagnosed for six years or more, according to the non profit National Organization for Rare Disorders.

The NIH estimates about 25 million Americans have rare diseases, defined as affecting fewer than 200,000 people.

A bill introduced in Congress last spring would establish the first-ever national registry of undiagnosed patients. And Internet forums are expanding resources for these patients. While checking one Web site, for instance, Ms. Jenkins found the name of a Cleveland Clinic medical geneticist who had spent seven years before finally reaching a diagnosis for one family. Trying to identify undiagnosed diseases is extremely difficult. Even at the NIH’s program, which has so far studied the cases of 240 people, the success rate is only 10% to 15%, says William A. Gahl, who runs the program. “The norm is failure,” he says. Some diseases are new and simply haven’t been seen before, Dr. Gahl says. And, he says, “We don’t even know all the variations of known diseases.”

[correction, 7 March: music played for the encoreI have rarely been so blown away at a classical music concert as I was last night, 2 March, at Geneva's Victoria Hall. Mélodie Zhao turned composer Frédéric Chopin's complete 27 Etudes into something I didn't know the collection had the capacity to be: magnificently passionate. The romantic music, which in some pianists' hands verges on the saccharine, last night would have made the composer proud, I feel certain. It's easy to go into a Zhao concert being impressed by her technical skills and poise on stage as a 15-year-old, but Tuesday night it was impossible to come out even remembering her age, for her stage performance and the music that filled the hall were those of a mature artist. "She's a genius," said the woman next to me, coming out of the hall. "Unbelievable!" another exclaimed to her companion.

I've heard her practice and I have the excellent CDs with 24 Etudes, made when she was only 13, but seeing her perform live, and with two years more musical maturity, transformed the music. Happy 200th birthday, Mr Chopin!

Two strong ovations from the crowd brought her back to play Chopin's Andante spianato and Grand Polonaise Brillante op.22., where she displayed yet more of her dazzling talent.

Melodie Zhao signing autographs after Chopin concert, 2 March 2010, Victoria Hall, Geneva

We all looked drained as we flocked into the lobby, for watching Zhao in person is like being a privileged spectator as shifting winds and sunlight dance over an open sea. To my great surprise, the young pianist was already seated at a table and signing autographs for a large crowd, with an enthusiasm and energy that didn’t show any strain from what has to have been a physically daunting performance!

Background: GenevaLunch feature on Mélodie Zhao

Review in Le Temps (Fre)

Kudos to what is now known as the tenthousandmiles (Mao, Motorbikes and a Yak) team, putting together a documentary on their adventures riding from Lhasa in Tibet to Shanghai on motorcycles: Global Times in Beijing has just published a feature article on them. GenevaLunch hosted an event in September 2009 with Liam Bates talking about the trip (he occasionally contributes travel stories to GenevaLunch).

We’re all supposed to be thinking about winter sports today but tennis just caught my attention: it’s hard to believe, but World Tennis magazine reminds us that it’s been only 10 years since Roger Federer played in his first major tennis tournament final. His opponent was Marc Rosset, then Switzerland’s great tennis hope. Federer “lost a nail-bitter 2-6, 6-3, 7-6 (5) in the final of the Marseille Open in France” notes World Tennis. Given that we didn’t yet know that Federer would go on to be one of the best-ever, if not the best-ever player, the news that day was that this was the first time two Swiss players had competed in an ATP final. Lovely read, this.

It makes me watch those young hopefuls at the Olympics with a different eye – is there anyone out there will go on to a sports career that draws the kind of respect Federer has earned in the past 10 years?

Two notable writers with strong Swiss connections will be leading a four-day writing workshop in Geneva offered by UK publishers Faber & Faber 25-28 March. “Writing Other Lives” is a course “about writing across languages, cultures, countries and borders, writing while living other lives,” notes Gappah on her web site. The cost is £500/CHF830 and will take place at the Société de Lecture in Geneva.

Gappah, who lives in Geneva, was recently awarded the Guardian First Book Award 2009. Christopher Hope, who lives in France, is the author of Kruger’s Alp, among other works.

The course has room for 15 writers. Details

Lucerne's crying lion, remembering fallen soldiers - my father said, with tears in his eyes, that he had never been as moved by any artwork as this sculpture

My father would have been 100 years old this week. I’ve thought about him often, as have my sisters, they write, and their children. I can think of few examples as fine as my father of how the best way to teach your children about the value of truth and generosity is to set an example. Live it, don’t preach it. Everyone in my family has rich memories of this.

Earlier this year I sat for some time in Lucerne, a city my father loved, and spoke with artist Hans Erni and his wife because Erni has been celebrating his centenary year. I was in Lucerne with a group of journalists to fete his 100 years, but I quickly realized when I met him that I had been wanting to pull a thread from Erni’s life – the artist, but also the citizen, the family man, the creative soul – and another thread from the wonderful life of that generous man born in a small town in the Midwest in the US, my father, and tie the two together. Put in a room together they would have found much to talk about.

My father, Robert Eugene Wallace, later Robert Joseph Wallace when he took the name of the carpenter of New Testament fame, was born October 19, 1909, in a year when other things happened that had an impact on the world he would live in, things some of us have forgotten or pushed onto the shelves of history.

But my father, with the passion for history he developed as an adult, would have corralled and later remembered with passion and huge pleasure these threads in  the tapestry that made up his own life:

• in January of that year US troops left Cuba after a presence that dated back to the Spanish-American war
• the NAACP was founded on Abe Lincoln’s 100th birthday in February 1909 and “colored” became a word of racial pride
• construction work began on the Titanic in Belfast, a passenger liner that would become the pride of the shipbuilding industry before it became more famous for sinking
• Joan of Arc was beatified in Rome, an event in which my devoutly Catholic father would take pride, as he told me in 1959 when I did a school project on this strange French girl, martyr and patriot
• Louis Bleriot, a Frenchman, became the first person to fly across the English Channel, a place where not many years later young men my father’s age would carry out the Battle of Britain in the air
• the US Navy founded a naval base in Pearl Harbor, Hawaii; the bombing of Pearl Harbor and the US entry into the second world war as a result were what prompted my father to go off and fight a war as a volunteer, leaving a wife and two little girls at home
• the Ottoman Empire slaughtered thousands of Armenians, a subject he read about in disbelief in his later years, when he found world history to be a fascinating tapestry coloured by the lives of ordinary people.

The Hans Erni museum in Lucerne has cuts from three 100-yr-old trees to show the size of trees that age grown at different altitudes. My father, who loved woodworking, would have been enchanted by it

My father had an extraordinary ability to transmit values through the richness of what he lived rather than through discussing them. He was born before the first world war, scrambled to make money and find a job during and after America’s Great Depression, married and had two small children and then volunteered for the US Navy and was sent off to the South Pacific during the second world war. Later, when he came home, two more children were born, and I was the youngest.

I don’t know if he left for the Marianna Islands fighting for decency, freedom, family values, and even deeper, a belief that love and generosity are at the root of human success, but he certainly came home with those notions.

They didn’t always come easily: when I told him I’d been terrified of rats squealing in the dark in China during a bicycle trip I’d made there in 1985 he recounted how much scarier it was to watch a rat running rapidly towards him on the line inside  his tent in 1943 than it was to think about Japanese bombers coming at the island. When I recounted a stupid mistake I’d made traveling, embarrassed by my own foolishness, he chuckled and said he’d gone as far as New Orleans with the idea of riding a banana boat to South America, took one look at the cut-throats on the dock and he headed north again.

For some people, these would have been events that marked their lives and explained their behaviour, but for Bob Wallace, my father, these became threads that he rewove into a lifelong series of small quiet gestures and acts of generosity. When his mother died he quietly took me out to the end of our garden to plant carrots and, in silence, we worked the earth, which spoke volumes to the small girl I was. He spent hours explaining the constellations to me and sharing his sense of enchantment with the skies. I was never lectured about religion, but the quiet nightly example of him praying, on his knees by the side of his bed, meant that while I might argue with him about God I would never question the sincerity of others’ beliefs.

Once, driving home from school, I was astonished to pass by the football field and see my father breaking up a fight in the middle of his business day. He never mentioned it, but later one of the boys at school said my father was good at that kind of thing. When I infamously wore a forbidden skimpy bikini to the beach for a day with my friends, my father showed up and made a lasting impression on the others by wordlessly, without anger, telling me we were going home. The quiet disappointment taught me more about respect than any lecture could have.

My father was a good raconteur, and his stories stick with us, of being an independent traveler before anyone knew what that was, or fighting in a war, or trying to be decent and successful in business when the competition appears to be winning through dishonest means. The stories nevertheless pale next to the examples, a multitude of them, that he set of making us feel we were loved, and that we, too, could be good or even better: truly fine individuals.

. . . so I fell in love with Wired’s photo contest of people sleeping. I was going to write more but zzzzzzzzzzz

The popcorn, the wine, the Alpine view and ...

One of the real joys of having a family is seeing them all leave, now and again, so you have time alone to do EXACTLY what you feel like. In my case, a recent home alone evening, with balmy weather in the Alps, drove me to one of life’s great pleasures (you might not all agree on the details): a large bowl of freshly popped popcorn, a glass of very good Valais Cornalin red wine, and an excellent novel, for dinner. Forget the vegetables and all the rest. Feet up, the view there during brief pauses as the page is turned.

It was so delightful that I rushed off to get my camera and capture the moment. Here it is!

But when I came out with the camera I noticed a few kernels of popcorn on the ground. That seemed odd. I’d been gone just seconds.

And then I spotted the culprit, a charming cat who’s taken a fancy to my veranda, who had dashed down to the pond and was busily drinking away.

I salt my popcorn. I suspect he was just playing with it and his paws got a little too salty. I do hope he didn’t eat it.

Fortunately, I had left most of it in the pan, so I could start again.

The thief

Best little cup of coffee in Geneva

It’s an entrepreneurs’ week, starting with the best little new coffee place in town – Geneva, that is – Boréal Coffee, in the financial district. Long live healthy competition! There’s finally a good Anglo-saxon-style independent alternative to Starbucks where you can get a great cup of coffee, have a sandwich or a salad and run back to the office with them or sit down and relax in a comfortable, tasteful setting. It just opened at 60, rue du Stand and my own experience is that it’s perfect for quick lunch meetings or slow novel reads, depending on your day.

The owners are two young men, Julian Caron Lys and Fabien Decroux, who met when they both worked as IT managers for Cross Systems, a large IT company in Geneva. The two caught the entrepreneurial bug and worked on one startup for a fruit smoothies company in central Europe, but they were short of financing and language problems got in the way, so they abandoned the venture.

Decroux headed for Australia, where he spent two years, and he fell in love with the coffee culture and the excellent coffee that comes in so many varieties. “Everything is an excuse to have coffee!”

Back in Switzerland he and Caron Lys decided in early 2008 that Geneva needed the Australian coffee touch. They spent several months learning the business, learning about barista coffees, touring coffee shops in the UK, Germany and elsewhere in Europe to get a good sense of what works and what doesn’t.

It took another few months to find the right location, knock out walls, and get set up, but they are definitely on the right track.

Webster offers entrepreneurship workshop 24 June

Webster University’s Hub for entrepreneurs is offering a workshop with contest for people who want to start their own businesses, 24 June. You need to present your idea to the public, which will discuss it under the leadership of a panel of judges and the winners that evening will be given mentors for their projects. Details

This seems to be a week for farm animals to put in surprise appearances. Friday we were driving up the hill to Etoy when traffic was suddenly halted to let several cows cross the road. A couple hours later I was in Valais where we have a chalet and as we arrived the gate of the farm next door suddenly opened and out poured Farmer Bernard’s cows.

”Are they headed up to the high alps right now?” I shouted, for human voices don’t carry well over the noise of excited bellowing cows, especially ones wearing hefty Swiss cowbells.

The men running with the cows shouted back yes. Running is the word, for when the cows see that gate open they kick up their heels, some of them literally, and rush off. They are capable of running at a good trot right up from our 1,100 metres altitude to fields at about 1,800. If you’re driving a car on that road, too bad – best to just pull over, rather than get between a happy but large cow and that glorious field of wildflowers and long grasses she knows is waiting for her.

I’ll miss those cows, who are now gone until October.

Meanwhile, two pigs came to Saint Prex and charmed many of us as they wandered around the beach, part of the Cirque Helvetia, visiting the village for two days.

Two gentlemen in suits were a bit taken aback to see an unattached pig walk up and sniff them, not an everyday occurance in Saint Prex!

More photos of Etoy cows, Saint Prex pigs and Valais Farmer Bernard’s cows, including his Swiss fighting cows, racing up the road to the high Alps: GenevaLunch photo album, “Farm animals run the show”