In His Hands

I tried to photograph his hands while he slept, but in the dark they resembled the grotesque pale fish found in a bottomless ocean. That's not how they are, at all. His hands fascinate me. They were the clue that I missed. I noticed them when we first met. I held them while he slept and I whispered in his ear that he should be a piano player.

His hands are beautiful. Long and elegant, they fly over the keyboard - the computer's keyboard - with blinding speed. His fingers, tipped by nails longer that socially appropriate for a male, are translucent with the blue of his veins pulsing lightly below the surface. Sometimes I can only gaze at his hands, unwilling to meet his challenging stare – daring me to mention his disheveled hair or the meds he's not taking.

Our life together has become a dance of avoidance. I avoid voicing anything but the most urgent of information and he just avoids me altogether. Driving together in the car has become a place for me to practice my rich inner dialog because I don't want to give him further opportunities to freeze me out. I stay quiet, listening for that moment when he might feel like talking.

A diagnosis could bring some relief – perhaps not to him but certainly to me. Relief that my instincts to cut him a lot of slack were correct. That when he said he was tired, he actually was. When he was overwhelmed, it was true. And that when he said he ached inside, he really did.

There is so much we don't know about connective tissue diseases and scientists are unlikely to learn anything from my son, because he doesn't want to talk about it. He may not want to talk but I need to.

For some, it starts at a cellular level, as a mutation. The FBN1 gene did something funny, took a wrong turn, danced with that Capulet over on another strand and now we have a young man with exceptionally long hands and feet. His back curves in ways that doctors and his family blamed on poor posture, but it goes deeper than that. His feet are flat and very narrow and his arms and legs go on forever. On an X-ray, his bones look so thin that a puff of wind could snap him in half. His elbows and knees seem large in comparison to their adjacent limbs like those famine victims from the pages of National Geographic.

He has never been remotely athletic. Keeping up with the other kids in the neighborhood was impossible and eventually he stopped trying. He didn't learn to ride a bike until he was 11 and hasn't touched it since. Marching band was a nightmare. He was assigned the smallest bass drum, but even that was too big. The harness left horrible marks on his skin, he couldn't see where he was going and it was painful seeing him stumble around the field at the first parent demonstration. His dad and I left the event stunned and tearful. We requested that he be reassigned to the pit (stationary percussion instruments) and while it was an improvement, the entire experience was exhausting. Even though the equipment is on wheels, he was often pushing things uphill on his own. When it came time to start summer band camp all over again last summer, he put in 2 hours and left in the middle of the day. No-one noticed he left and no-one ever called. I was disillusioned. I thought band was supposed to be like family. I was wrong.

We switched him to choir and he seemed to enjoy that but standing for an entire hour really hurt his back. He complained that he couldn't take really deep breaths needed for singing but I assumed it was lack of aerobic conditioning. I assumed his lanky frame was due to poor eating habits. I was wrong.

He's been on anti-depressants since seventh grade. Anxieties had overwhelmed him and he developed

agoraphobia. Physical education class was such an unending nightmare that he took to hiding around campus rather than being forced to stand in formation under that cavernous sky. He understood that his fear of falling off the earth was irrational, but the panic gripped him all the same. Prozac helped. It seemed like a miracle. He stabilized and while his grades were not on parr with his brilliant intelligence, I thought he was doing okay. I was wrong.

He's always been shorter than most of his peers and I quietly prayed for him gain height once puberty hit. Yes, puberty hit but he was then hit with a whole host of new problems. Plotting his growth in the last year, the gentle curve takes a sharp steep climb. Strange horizontal stretch marks appeared on his back and his complaints of aches and pains and exhaustion became more strident. I assumed it was normal growing pains. I was wrong.

It was only after 6 weeks of school absences and 6 weeks of doctors visits and blood tests and x-rays that his pediatrician was brought up short when I pointed out the stretch marks on his back. I assumed they were a normal part of growing. I was wrong.

The doctor stopped his exam, stopped talking and began to type furiously into his computer. He spun around and took my son's hands, his beautiful long hands and began to bend them backwards in impossible contortions. He moved onto his wrists and his elbows and then his two shoulders which he pulled forward until they almost met in the front. I was stunned. He re-examined the curves of his back, the protruding cartilage in the center of his chest and his long narrow feet. He had him bend over to touch his toes, but he didn't even come close. He had him hold his arms out to the side and measured him, finger tip to finger tip and made his pronouncement.

“I think we may be looking at Marfan Syndrome. Have you heard of it?”

Yes . . . . .

I'm a voracious reader and I knew that Abraham Lincoln supposedly had it. I knew it could be serious.

I had been expecting some sort of virus was causing the aches. I feared something like fibromyalgia – harder to treat, but it would be an answer. He had been tested for lupus, checked for infections and was even told by one doctor to take away his iPad because he wasn't sleeping enough. (He sleeps 14+ hours a day).

I wasn't expecting this. It should have been obvious, but his lack of extreme height hid the other symptoms. He was immediately scheduled for full body x-rays, more blood tests and an echo-cardiogram.

Our immediate concerns of missing school and his fragile emotional state soon transformed into a life or death vigil. People with connective tissue diseases can die of a dissected aorta at an early age if it goes undetected and untreated. Until the tests were back, physical activity was to be curtailed. No PE, no basketball, no competitive swimming, no soccer, no weightlifting, no running. The document excusing him from PE was golden for him. It was a reprieve from expectations. While I lived in fear that the heart tests would bear bad news, I was also incredibly relieved.

I was relieved for my son that he no longer has to bear the criticism of his lack of athletic prowess. I am relieved for myself that his body is skinny because of his genetic roulette rather than my liberal meal policies. Several of the orthopedists that he has seen over the years for his scoliosis, kyphosis and lordosis simply told him to stand up straight – it's just poor posture. They were wrong. This is genetic.

Connective tissue diseases can wreck havoc on the human body. Aside from the elongated skeleton, fragile aorta and stretchy skin, we also have to look out for signs that his eye lenses could become dislocated. People with Marfan's Syndrome are prone to lung problems – including spontaneous pneumothorax – collapsed lung. In 6^th grade he contracted a random case of pneumonia – perhaps it is related. They often have digestive problems. His chronic childhood constipation now makes sense. Most people with connective tissue diseases have trouble gaining weight. My child was destined to be ultra thin. It's not anyone's fault.

We have spent the last 8 months exploring this tentative diagnosis. The heart testing came back fine so far, but he will have it repeated every year for the rest of his life. When damage starts to become evident, he will have to go on medication and become even more physically cautious. Many patients eventually have their aortas replaced. This is not minor surgery and survivability is not guaranteed. Intense eye exams are another yearly necessity. I have been trying to find a pediatric pulmonologist to measure his aerobic capacity, but they are hard to come by. I'd be willing to bet his lungs are not up to parr. We have seen a pediatric geneticist who reconfirmed our pediatrician's tentative diagnosis and recommended genetic testing. Of course our insurance covers genetic “counseling” but not genetic “testing.” Despite that, we are moving forward, paying out of pocket and had the test this week. Finally.

Actual test in progress.

Our son has stopped attending school. We put him in an independent study program, but he did nothing. We switched him to an all computer virtual school program, but still he does nothing. He is exhausted. He is deeply depressed. He sleeps too much. Plays too many video games and has stopped taking his meds.

Scientist do not have any hard evidence that connective tissue diseases cause neurological complications, but researching Marfan's and depression produces too many hits for there not to be a connection. One Norwegian study that concluded that Marfan's patients had a reduced quality of life on parr with cancer patients. Anxiety is a common thread for sufferers and there are a significant amount of children on the autism spectrum that also have Marfan's. Of course, if you have the sword of Damocles hanging over your aorta, you might be depressed and anxious too.

I have my own depression to deal with. Well, perhaps not depression, but certainly I'm going through a grieving process. I have to let go of all those dreams I had for him. When I found out I was expecting a son, I had a vision of a tall, strong, young man, with broad shoulders and brunette hair like mine. He would pick me up and twirl me around and tell me I'm the best mom ever. He smiled, he was healthy and he was successful. Maybe he was a doctor, or a firefighter or a dancer. Maybe he was in the armed forces or an airline pilot. He had dreams and he pursued them.

What I have in reality is a slim young man who should never, ever pick me up. He does not smile often and his hair is blond when he bothers to wash it. He long ago let go of his childhood desire to be a firefighter. His academic downward spiral makes the more recent dream of becoming a dermatologist more unlikely. He has expressed an interest to go into the Navy, but they will never accept him with Marfan's Syndrome. He was once a brilliant drummer with tons of potential, but he rarely picks up his sticks anymore.  He has no dreams of the future because he no longer expects one.

He is not the son I daydreamed about because he is something so much more. He has a brilliant mind. This is a kid who knew about string theory when he was in second grade. He wrote such an accurate yet amusing account of a frog dissection that his ninth grade biology instructor shared it around the teacher's lounge to any who would listen. He has love in his heart. This is a young man who cradled his newborn niece with such anxious tenderness, it tore at my heart that he may never risk his genetic anomaly on his own children. He has charm. Some might say that he manipulates me into cutting him more slack than he deserves, but I'm the one who encouraged him to use honey rather than vinegar.

He is a product of my own making. He is funny. His wicked sense of humor never fails to astonish me. His appreciation for dry wit exactly matches my own. I really couldn't ask for a smarter, more entertaining companion. I treasure the time we spend together, even when we are are silent.

Any decent parent has goals for their children. We want them to be happy, healthy, productive and eventually independent. We might dream of them attending medical school or becoming a famous musician. Perhaps there is family business we want them to carry on or they come from a long line of family in law enforcement. Whether our kids are perfectly sound or facing multiple challenges, letting go of those hopes is hard. It's hard but necessary.

I'm learning everyday day to pick my battles and celebrate small successes. Enforcing a sleep schedule is futile. Insisting on daily showers will just produce increased resistance. Forcing meds on him now will make him more resistant in the future. Even overseeing homework made things worse. If he graduates a year later, that's okay. If he tests out early, that's okay too. If he chooses to spend his precious small amount of energy typing, who am I to say otherwise? What I want doesn't matter.

Ultimately, it's in his hands, his beautiful hands.