A daughter’s inspiration

15 March 2013 by Malcolm Campbell, posted in Malcolm's linkfest

“Always the spirit of joyousness rises before me as her emblem.”

Memorial to Anne Elizabeth Darwin, by Charles Darwin

There are few things more harrowing than seeing children struggle with a debilitating illness. In 1851, Charles Darwin experienced this first hand, as his beloved eldest daughter was stricken by, and eventually succumbed to tuberculosis. Anne Elizabeth Darwin, or Annie as she was known, was the proverbial apple of her father’s eye. By all accounts, she was a wonderful child – joyful, inquisitive, animated, articulate, and polite. Annie and her father shared a sense of wonder of the world, and a desire to understand it better. They teased each other, but it was clear that she respected him immensely, and he adored her in return. Even on her deathbed, at age ten, Annie retained a positive, appreciative outlook, and a clear love for her father that was heart-rending.

Caring for an ill loved one invokes a multitude of emotions, particularly frustration. Imagine the frustration Darwin must have experienced as his daughter endured 9 months of decline, ravaged by an illness that, at the time, was still very much a mystery. Darwin was a person who corresponded with the leading scientists of the day. Beyond this, he had already amassed astonishing amounts of data about the natural world. Even more, he was well on the way to making sense of one of the biggest intellectual challenges of the time. How difficult it must have been to have all of this knowledge at his fingertips and not be able to apply it to make his dear daughter well again.

Unsurprisingly, the loss of Annie was utterly devastating, and had a long-lasting, profound effect on her parents. It is fair to say that it haunted them for the rest of their lives. This said, Annie remained a positive force in their lives. While it was initially a setback to Darwin’s research, Annie’s death eventually served as a galvanising event in his quest to understand the workings of the natural world. Importantly, sensitive to the impact that Annie’s passing had on her partner, Annie’s mother, Emma, increased her support of Charles and his work. All told, Annie served as a phenomenal inspiration to her parents, catalysing their efforts to make sense of nature. Annie’s legacy is one that we all share; a rational explanation for the remarkable diversity of organisms we see around us. There can be no better homage to this legacy than Annie’s father’s own words “there is grandeur in this view of life”.

If only Annie’s legacy had been the eradication of medical conditions that afflict children. Unfortunately, such conditions are still very much part of the world today, and are still very much the same frustration that they were in Darwin’s time.  Fortunately, modern biomedical advances have the potential to ameliorate much of the frustration that Darwin must have experienced when Annie fell ill, and offer hope to treat children with devastating medical conditions.

This past week, in a magnificently told story, Ed Yong provided a wonderful example of how the frustration of childhood disease can inspire biomedical research that truly makes a difference. The story focuses on Lilly Grossman, and her parents Gay and Steve. From the time she was an infant, Lilly suffered from body-wracking muscle tremors that kept her and her parents awake throughout the night, every night. As she grew older, these tremors were accompanied by extreme muscle fatigue and overall tiredness. After years of unsure diagnoses and even less reliable treatments, Lilly and her family came to a dramatic turning point. After hearing about the power of genome sequencing for diagnosing rare, inexplicable conditions, the Grossmans approached researchers at the Scripps Translational Science Institute. Through research conducted as part of the Idiopathic Diseases of Man (IDIOM) study, DNA sequencing revealed that Lilly’s condition was likely explained by three mutations in two different genes. Of these, one suggested a potential treatment. That treatment, it turned out, offered some relief from Lilly’s symptoms.

Lilly’s story is a remarkable one. It is also a story that is, fortunately, becoming more commonplace. In fact, the Grossman’s decision to approach scientists using genome sequencing to decipher mystery diseases was based on a previous success with a similar approach. Thanks to projects like IDIOM, where the emphasis is on conditions that are rare, so-called “orphan diseases”, frustration has been replaced by hope for some families. Contrast this with the situation of even half a decade ago, when a frustrated, yet inspired, father felt he had to take research matters in his own hands. Hugh Rienhoff had been contending with a “diagnostic purgatory”, with no good leads on a mysterious condition that afflicted his daughter, Beatrice (Bea). Convinced by the power of genomics, Hugh Rienhoff began the arduous task of personally combing through his daughter’s genome for an explanation for a condition that baffled other researchers. Hugh Rienhoff’s inspiring work has paved the way for new discoveries that not only help explain his daughter’s condition but that of others with shared symptoms. Just this last week, Hugh Rienhoff indicated that he thinks he has found the gene that explains most, if not all, of his daughters disorder.

Clearly, accessibility to advances in biomedical sciences can alleviate some of the frustration experienced by those caring for ill children. This is not to say that there aren’t still many frustrations. For example, as beautifully and thoroughly illustrated by Virginia Hughes this past week, there remain many challenges around the funding of research into many health afflictions. These challenges are particularly large when “small” disorders are competing for research funds with medical conditions that affect larger groups of individuals or receive more prominent press coverage. While no less debilitating and devastating, disorders that afflict fewer people, or are otherwise deemed less worthy of public attention, can be frustratingly difficult to attract the funding necessary to make the transformative discoveries that will improve patients’ lives or life expectancies. These medical conditions at the fringes of mainstream biomedical research remain a frustration for those who struggle with the day-to-day challenges of caring for children that are afflicted with them.

Social media is providing an opportunity for parents of children afflicted with rare conditions to network, and build a stronger voice for research on the condition in question. A superb example of this is Karen Congram’s “Abby’s Team”. Abby is Karen Congram’s 14-year-old daughter who has Rett Syndrome. Rett Syndrome is a nervous system disorder that affects 1 in every 10000 children, and is most commonly observed in girls. It is generally attributable to mutations in a gene on the X chromosome, methyl-CpG-binding protein 2 (MeCP2). In Abby’s case, she has, as her mother says, a “C to T nonsense mutation that changed our lives forever”.

Undaunted by a life-changing mutation, Karen Congram has used the power of social media to build community, and to increase awareness of Rett Syndrome. Key amongst her concerns is nurturing empathy in the researchers that work at the frontiers of Rett Syndrome research. As she says, “I've been inspired by the idea of trying to teach that empathy to others.  I've introduced Abby to researchers and grad students to help them make that connection.” Notably, as a high school science teacher with a background in human genetics, Karen Congram is also inspired by the researchers she connects with: “I still come away thinking about how cool the science is.  It's serious business now, but still just as fascinating to me.” Clearly, the inspiration is a positive feedback loop: Congram is inspired by Abby, she works to inspire researchers, and they in turn inspire her.

There’s an incredibly positive message to take away from a situation that has every reason to be nothing but a frustration. The message is one of the inspiration and hope that comes from children. Even in the face of devastation, Darwin was inspired by his Annie. Today, those who care for children with orphan diseases have good reason to be inspired by both wonderful kids, and by the promising prospects that lie ahead. As Karen Congram says: “There’s nothing like a child to inspire you.”  Indeed, there is not.

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In the spirit of inspiration, hopefully this week’s round-up of incredible things will fill you with inspiring thoughts as you go about your life. Enjoy!

Feather, fur & fin – birds, beasts, fishes, and the things they do

Darwin was unable to solve some of the riddles he was confronted with. One was a wolf, for which the riddle has now been solved.

Alas poor Ursus, I knew him well. Wonderful rumination on a bear’s skull.

Our furry friends. Good old mammals.

Next time you’re in a flap, imagine the hummingbird with its two vortices with every stroke.

Frogs are real whiz kids. They have amazing bladder control.

Slow day at the office? Catch predators doing their stuff in slow motion.

Something only a mother could love? A newly discovered, really nasty looking fish.

Looking for back up? Fish straighten their backs by vacuole action…beautifully.

Like the mouth organ? Whales have one IN their mouth that will blow you away. And in case that doesn’t impress you about whale’s mouths, this will.

These songs are killer!  Because orcas made them.

There’s a hunt on for a potentially mythical beast, the loneliest whale in the world. Great story in 1, 2, 3 parts.

The devil’s in the details, but there may be good news in the battle against the contagious cancer afflicting the iconic Tasmanian mammal.

Crocodilia. They’re pretty well everywhere. Think about it.

Bugs’ life – insects and other things that creep, crawl and otherwise delight

Getting a buzz from caffeine. Plants that lace nectar with caffeine turn bees into return customers.

Bees do the dance, dance revolution. It’s how they communicate.

Can’t go back in time? Don’t tell dust mites, they may have gone back to an evolutionary starting point.

Not so batty. Spiders catch bats. Yes really.

Who says spiders aren’t cute?! Hmm.

And who said horns were costly?  Hmm.

Beautiful botanicals – wonders of the photosynthesising world – that is, mainly plants

Not a nutty idea at all. It may be possible to resurrect the iconic American chestnut forests.

Want to go with the flow? Here’s how maple sap may do it.

Fossil finds – organisms of times past – dinosaurs and beyond

Forget Jurassic Park, check out this Cretaceous Cave.

Camels are cool, and in the past they were really cool. Fossil bones reveal so much.

Can’t stay put? Neither could our ancestors, they were legging it all the time. They were extreme travellers.

Whenever I see your smiling face…I think of evolution. And how the hominid face has evolved over time (great animation)

Microscopic marvels – smaller than the eye can see, but big in action – bacteria, fungi and viruses

Here’s the rub. Microbes make their way from blockers to jammers (and the track) during Roller Derby.

Will it now be possible to foil a fungal foe? The hope is that the genome of the fungus that causes ash dieback may help.

Some fungi are foes, other friends, but many beautiful.

It takes a thief. Some algae have fared under adverse conditions by stealing the genes of other organisms.

Want to talk about something that truly went viral? Dengue.

Molecular machinery – the toils of the macromolecules of life – nucleic acids and proteins (and others)

Burned after reading? Not DNA. It’s fire resistant. Yes, really.

Deadly alphabet.  hCoV-EMC binds to DPP4 to make something SARS-like. Translation: the receptor for the latest deadly coronavirus has been found, and that could be a good thing.

Earth, wind and fire – planet shaping – geology, meteorology, oceanography & the climate

This rocks! Want to communicate a PhD thesis on geology? Turn it into a booklet that the public can understand. Awesome.

Star attractions – the final frontier, space

Water, water everywhere. The Red Planet once had conditions ripe for life. Awesome!

The blue planet? Well, it’s not always Earth. In fact, in this gorgeous video it’s Mercury.

Heads up! Great week to check out a passing comet.

Moonrise over an arsenic lake. Right here on our own planet. Beautiful.

Might we have to dig deeper in our search for extraterrestrial life? Maybe it lies beneath planet surfaces.

Forces of nature – big ticket items – cosmology, ecology, evolution, physics, chemistry

Love this to bits. The beauty of the Higgs boson.

Do the math. Three bodies. Thirteen solutions. Remarkable number of solutions to physics “three body problem”.

Frighteningly fast: “Spooky action at a distance” appears to operate greater than 10000 times faster than the speed of light.

Time to lighten up? It turns out that the discourse around dark matter is a lot more heated than you might expect.

Matters of mind – how we, and other animals, perceive our world and our place in it

How are things shaping up? It turns out that we can ascribe human motivations to shapes. We’re big anthropomorphisers.

Seeing nose to nose. Rats use sniffing to communicate.

What were they thinking? Mice get a brain boost from human glial cells, and get a little bit smarter. Ow, that smarts.

What the cat saw. Maybe the same thing you saw?

Behind the scenes – the workings of the museum – discovery and communication

If you want to share a bug’s life, you better be prepared to get down to eye level.

With all the beautiful things that have been written, is it worth trying to write something yourself? Yes. Here’s how to start. And here’s how to continue. And here’s how Ed Yong does it.


4 Responses to “A daughter’s inspiration”

  1. Virginia Campbell Reply | Permalink

    Certainly makes one think of all the work to be done!

  2. Julia Nowak Reply | Permalink

    Children really inspire you to be better. Great post, Malcolm!

  3. Robin Reply | Permalink

    It is thought that Darwin himself suffered from a long term debilitating condition, Cyclical Vomiting Syndrome (CVS) (International Journal of Dermatology 2011, 50, 1162–1165).

    Historically it was thought CVS was a disease of childhood, but we now know it can have onset of symptoms at any age. There is evidence that CVS and some other idiopathic conditions (e.g. migraine) may share their origins in mitochondrial DNA mutations (American Journal of Medical Genetics 131A:50–58 (2004) ) and are thus inherited via the maternal line.

    One of the difficulties of any childhood condition, that may not be life threatening for most, is the difficulty of performing any clinical trials and the relative rarity usually precludes any incentive for pharmaceutical companies to invest in developing treatments for such conditions.

    It is impressive and inspiring to see just how much difference one person can make.

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