Контент 14+ (описание заболевания и вопросов религии)
How would you like to have a disease that turned your whole body into nothing but solid bone, in effect transforming you into a human statue? Sounds rather horrific, right? Maybe the work of some evil scientist in a futuristic film? I am afraid not. It is real. Its official name is "fibrodysplasia ossificans progressiva (FOP) -- known more commonly as "stone man syndrome." I know about it only because a student who has returned to me after an absence of several years -- a splendidly intelligent, noble, and beautiful lady -- now has a three-year-old son who is afflicted with Stoneman syndrome. It happens to one in every 2 million people worldwide. She also has an 8-year-old son who is perfectly normal. We live in a bizarre universe.
The swelling got worse and started moving down Fedor's body, thickening his neck and shoulders. Misdiagnosis seems rather common in Russia (I have another friend in Kemerovo whose baby son died due to a faulty evaluation), but in this case, the doctors could hardly be blamed due to the extreme rareness of the disease. Anna, increasingly alarmed, finally found a doctor who recognized the devastating affliction for what it actually was. There are only about 800 known cases on the planet, although my own research has shown that this is not a 'modern' disease; people in the past suffered from it, died from it, but no one knew what was going on..
It is brought about, as Anna states, when "only two 'letters' in the codon of the chromosomes accidentally (a genetic mishap) change places and cause the muscles and ligaments to be permanently transformed into bone over time." In other words, the malfunctioning of a gene called ACVR1, when mutated, activates a protein called activin A that is supposed to inhibit bone production when it is no longer needed but which in Stoneman syndrome does exactly the opposite. Accidental falls and injuries aggravate the disease because of the body's own natural healing mechanisms, gone awry, form unwanted bone as 'replacement', effectively building a 'second skeleton.' Surgery to remove this excess bone is completely counter-productive; try that, and bone production automatically starts working furiously to replace what the surgery has removed. To quote Aris Economides from Regeneron Pharmaceuticals in the US: "Imagine you are driving your car down the road and you come to a red light. You press on the brakes, and the car stops. But in this case, not only does your car NOT stop, actually, the brakes are hot-wired in the accelerator."
Eventually, the body loses all mobility, and sufferers often must decide if they wish to be permanently situated in a sitting or lying-down position. Life expectancy is about 40 years, as even the act of breathing becomes harder and finally impossible. Hopeless, right?
There is always hope. And there seems to be an antibody, newly discovered in America and successfully tested on laboratory mice (not a surefire signal that it will be just as successful on humans) which has been shown to block the signaling pathways and halt the excess bone formation at least temporarily. Light at the end of the tunnel?
Many mothers and fathers would crumble under such a hideous burden, and for Anna, it hasn't been easy. Her marriage endured a very rocky spell during the first trauma of discovering the reality, the husband seeming somehow to blame HER for the situation. That has passed. Anna has become a crusader in the field, emerging, to my own way of thinking, as a hero. She says, "My mission is to spread awareness of the disease throughout the country. Doctors (here in Russia) don't know about this condition and continue to maim children, doing misdiagnosis surgery, chemotherapy (looks like oncology), injections that only worsen the development of the disease. Have you seen a child's unusually malformed toes? Tell the parents about FOP."
Personal tragedy can bring out the worst or best in us. Many years ago, a Philadelphia rabbi named Harold Kushner whose job was to minister to the spiritual needs of the many people who attended his synagogue, was dismayed to find that his only son, still very young, had developed an equally rare disease as that of Anna's son. It caused the boy's organs to age at an extraordinarily rapid pace, and the boy eventually died of "old age" in the very flower of his youth. Kushner suffered an angst of faith. Why me? -- he cried (like the character in the Book of Job). Why me??? And he was furious with God. How could he continue as a rabbi? How could he comfort people, augment their faith in God, when he himself was at a complete, spiritually-crippling loss?
Kushner decided to explore his grief, and thus hopefully conquer it, by writing a book. The result was "When Bad Things Happen to Good People." It became famous, and Kushner went on to write more wonderful books. I would advise anyone, religious or not (I am increasingly not) to read these books. They are magnificent. Very lucid and 'readable'. And supremely wise.
Asked if she herself was religious and if so, what effect her and her family's personal catastrophe had had on them, Anna reaffirmed her own faith. She wrote me in an SMS, "Eric, as I look deeper into science I find the world more spiritual... Paradox, huh? I accept the ordeal.The child is the power that God uses to improve us. Everything has a reason..."
Gee, I don't know. Like Harold Kushner at the beginning of his grief, I seem to spend a lot of time ranting at God for creating a universe where so much pain unfolds, when it seems that 'He' could have invented one without agony, where happiness ruled.. It is not really and truly that I am an atheist, I just often have to choke back my rage against this imperious, pretentious 'character' that William Blake the poet called "Nobodaddy" (Nobody's Daddy). Somehow, among the religious, NOTHING is ever God's fault. HE is perfect, and WE are sinners. Personally, I would like this God a lot more if He was willing to shoulder at least some of the blame for all this folly and misery that we are stuck in (a lot of it self-created I admit, but surely not all) and If there is ever such a thing as 'Judgment Day' when we each stand before this 'God' you can bet that I will have a few stiff questions for 'Him' before 'He' sends me to hell.
There was a popular song once that started with the lyrics, "What if God was one of us?/Just a stranger on a bus?/Just a slob like one of us/Trying to find his way home." That God I could deal with.
But that's just me, and who am I?
Anna is better than that, far advanced beyond the childish tantrums that arise in me. So if there is a God, then I say God Bless her. And her son. We invite you, as readers, to explore this topic more online. Should you wish to make research-directed donations, you can at :
http://www.ifopa.org/
www.foprussia.ru
or a card of the SberBank
5336 6900 8060 9136
Thank you all for reading and for your attention.
===Eric Richard Le Roy===
