Monday, December 21, 2009

Going to the Prom

Marcie transitioned to my care when she turned sixteen. She felt too grown up now to be in the same waiting room with "kids" at the children's clinic. But she wasn't doing well.

Her Pediatrician had suspected the problem shortly after birth. She wasn't growing normally, had nasal congestion, and more respiratory infections than usual. A sweat chloride test was ordered which was positive. The diagnosis was cystic fibrosis (CF). The diagnosis was devastating to Rich and Sally, her mom and dad. Both of them were free of the disease, yet they were "carriers" of an abnormal gene which meant that statistically 25% of their children would have both abnormal genes and thus have CF. Marcie was the unlucky one. Her sister was free of the disease but a "carrier" by genetic testing.

Sally was very committed to learning and focusing on what could be done for Marcie. Rich was angry about the whole thing and distancing himself. By the time Marcie transferred to my practice, Rich and Sally had been divorced several years earlier. Sally, as many parents with CF children, had become very well versed in CF care, advocacy, and support. She had a very close bond with Marcie. Much of their education came from support of the Cystic Fibrosis Foundation and their national registry for CF.

She learned that CF problems were related to very thick mucous secretions in the lungs and that a variety of aerosols were very beneficial. Early treatment of lung infections was very important as was watching the levels of fat soluble vitamins in the blood (D,E,A and K). The pancreas did not secrete enzymes normally so enzyme pills were part of the daily regimen along with vitamins. Calories were counted and weight closely monitored because normal digestion was impaired.

At least once or twice a year there would be a severe flare up with respiratory infections requiring hospitalization. Much to her chagrin, the hospital would insist on putting Marcie on the pediatric unit where the nurses were much more versed in CF care. But this way she did get a private room which pleased her.

Marcie was excelling in school and growing into a lovely young lady. She hoped to train as a nurse and, in early high school years, volunteered at a local hospital. She had started dating and had a wide circle of friends.

During a hospitalization at age 16 she complained of "peeing all the time". I asked the nurses and resident if they had done a urinalysis or checked a blood sugar. The latter turned out to be 310 (normal less than 100). So Marcie's pancreas was failing and she was now diabetic complicating her care further. Additionally her liver was becoming involved and she'd had some bleeding from veins in her lower esophagus which ultimately required more intervention.

Despite this Marcie tried to set goals for herself. Her friends and Mom were her lifeline. She knew her time was limited and the goals became more near term.

Partly to reassure Marcie, the family (and me) that all was being done that could be done medically, I referred her to the University Adult CF clinic which was actively involved in research and patient care. As pediatric care has improved, the average lifespan of a CF patient has expanded from early childhood now to age 35. The consultation was supportive but didn't offer new avenues of care. Marcie had so many complications that her outlook was looking progressively poor and the hospitalizations more frequent. At that time she did not meet the criteria for lung/liver/pancreas transplant unfortunately.

So I was faced with the difficult situation of discussing end of life issues with a young woman who was just turning 18 and about to graduate from high school. All along, Sally encouraged Marcie to "go for it" and live life to the fullest. But time was running out. Marcie had seen CF friends die and found discussing her own mortality very difficult and depressing. She did manage to say that if there was really no hope that she wouldn't want to keep going on machines.

As Marcie neared the end of her senior year the deterioration in lung function continued, but she had her heart set on going to the senior prom. Her boyfriend said "it was no big deal". Marcie though pictured this as an all important once in a lifetime event. She knew it was risky in terms of her health as the day approached so she and Sally, her very supportive mom, had a heart to heart discussion. Sally managed to find the inner strength to support Marcie's wish. So Marcie, delighted, went out for the big night - and had a wonderful time.

But within a week she had acute respiratory failure, presented to a nearby emergency room where was intubated and placed on a respirator. She was then transferred to my care in the ICU.. There was no improvement over the next three days. The very poor lung function at baseline showed no improvement. Heavy sedation was required to keep Marcie comfortable and from pulling out her tubes.

There were daily conferences in the ICU. Sally, as a mom, was reluctant to accept that her daughter wasn't going to get better. I discussed the situation with my colleague at the University Hospital and was very delighted that he offered to come across the lake to help with the family discussion and decision making. He affirmed that Marcie could not make it off the ventilator and that keeping her alive this way was only prolonging the dying process.

At the end, it was agreed to wait until Sunday since her birthday was on Saturday. Sally, the boyfriend, sister and pastor were all at the bedside. I turned off all the monitors in the room gave them all time to say their goodbyes and shed tears. It was a sad scene for all the nurses who had given her such excellent care. After asking the family to briefly step outside, we gave enough sedation for comfort and removed the endotracheal tube. I had prepared the family to expect shallow respirations. They held her and talked to her at the end.

Her mom, Sally, said to me though tears, "When she was a little girl I dreamed of so many things for Marcie. She was stronger than I and helped me through my sadness. The one bright spot is that she achieved a special goal - going to the prom."

Comment: In the modern Intensive Care Units, there are many patients on ventilators to support their breathing while trying to heal and recover from a variety of diseases and injuries. Some do heal and return to reasonable function. But some worsen, develop complications, and have multiple organs fail. Surprisingly about 70% of deaths in the ICU's are related to withdrawal of the ventilator - the only thing that is prolonging the dying process. The decision to withdraw the ventilator, even when expected and supported, is never easy but it does show respect for the wishes of patient as reflected in family discussions. There are times when the ventilator is continued for days, weeks, or even months when the surrogate decision makers disagree - but fortunately the futile continuation of care is unusual. Ethics consultations and recommendations are invaluable in such situations.

Wednesday, December 9, 2009

Seeing Through Another's Eyes

I have tried to write a letter of thanks but don't know what to say or even how to begin. I don't know the persons I am writing to, but part of their loved one is literally now a part of me.

It began with a phone call from my brother. "Jim, what the hell is Fuchs' Dystrophy anyway - do you have it too?"

I racked my brain and tried to dust off distant learning from medical school, but I had to turn to the internet for answers. My brother had begun to have hazy vision and could no longer follow the flight of a golf ball, or even a hard line drive in baseball. He couldn't read clearly until early afternoon. The problem was that his cornea (the outer layer of the eye) was waterlogged. Blowing a hairdryer into his eyes helped some as did a strong solution of salt water - but these really didn't help enough and the problem was worsening.

His ophthalmologist explained to him that this was an inherited disease. Our parents had passed away and we knew that their eyesight wasn't the greatest in their 80's and 90's but they were never diagnosed with Fuchs. The treatment options were explained to him: no treatment (leading possibly to scarring and blindness), the traditional corneal transplant, or the relatively new Descemet's membrane transplant (called DSAEK which is basically a partial corneal transplant).

The cornea, I discovered, is an absolutely amazing part of our body. This window for our vision has five layers and, with its curvature, provides two-thirds of the refraction needed for clear vision. The innermost layer, the endothelium, produces Descemet's membrane. The function of this region is to pump water out of the cornea to keep it crystalline clear. So basically it's our own sump pump built into the cornea. In Fuchs, the endothelial cells start to die off prematurely and consequently the cornea starts to swell affecting vision.

So my brother underwent the DSAEK procedure in both eyes and had a stunning result. He's now back to golf (without a spotter) and has excellent vision.

But then it was my turn. I thought initially it was cataracts, but it turned out that I was, like my brother, in the unlucky 50% inheritance chain. The procedure felt strange. I was in my own clinic where I knew everyone, but they appropriately kept a professional demeanor asking my name and birth date three times as part of the safety controls. The corneal surgeon had extensive experience and my confidence was high. The procedure was under local with "conscious sedation". After an tiny incision and stripping a button of the ineffective endothelium from my eye, a similar sized button from a cadaver was inserted. An air bubble was then introduced to keep the graft in place while I laid on my back for an hour before going home and lying on my back some more. Amazingly the vision after 4 days cleared, the images were sharp and the halos gone.

So what about the cadaver? I hadn't given my donor much thought until I tried to write a letter of thanks to the loved ones. My transplant of course was pretty minor compared to a kidney or lung transplant, yet every time I open my eyes I'm most thankful that someone was so thoughtful in giving part of themselves to others.

I had so many questions. What happened to my donor? How old? Was it expected or sudden? How can I really express my thankfulness? I've always checked the box "organ donor" on my driver's license but never really given it much thought. But the fact is I now am literally seeing more clearly through another's eyes as I write this. An anonymous gift of one person to the person of another. I still must try to write the letter.

The funeral as we know it is becoming a relic — just in time for a death boom

By   Karen Heller April 15 Ed note: Funerals are changing in ways that will bring culture shock and a shake of the head of s...