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Saturday, March 5, 2016

Rare Disease Day 2016

I see a dermatologist once a year just for a check. It happened that my appointment this year was on Rare Disease Day. The doctor said, “How long has this spot on your face been there?”

“I don’t remember,” I said.

“I don’t like the look of it.” He left the room and came back wearing magnifying goggles. After he stared at it through the glasses, he said, “I’m going to biopsy this spot.”

“Remember, I have a bleeding disorder.”

“It won’t be a problem,” he said. “I’d sleep better tonight if I biopsied it.”

If my brain had not shut down after hearing the word “biopsy,” or if he had not made it sound so urgent, I would have said, “I’ll need to get an infusion before you do any cutting.” When I feel afraid, it shuts down my thinking temporarily. I was in flight response and I just wanted this suspicious spot on my skin off.

The doctor left the room and the nurse snapped a photo of the spot. Then she turned her back to me while she uploaded the photo into the computer. Much to my surprise she had a syringe and was pointing the needle at my cheek. “This will sting a little, but it will numb the area.”

“No,” I said switching to fight mode. “You’re not going to inject anything. It will only make a second place to bleed.”

She made a face and said, rather gruffly, “I’ll have the doctor come speak to you.”

When the doctor came in he said, “What do you want me to do?”

“Either use a topical anesthetic or nothing.”

“We can put a topical cream on and wait several minutes,” he offered. I could hear the hesitation in his voice. Was I slowing down his efficient routine?

“I’d rather you used nothing for pain.” I glanced at the nurse who visibly cringed.

“Ok,” and off he went to get his surgical kit.

In two seconds he was done. Then he put a gauze pad on the wound and told the nurse to hold pressure on the spot for five minutes. “It’s just oozing,” the doctor said confidently.

That was when I began blaming myself for allowing this procedure to be done before getting a dose of fibrinogen first.

Five minutes later the nurse pulled up the pad and peaked. “Still oozing,” she said.

I refrained from saying, “I told you so.”

After another five minutes the cut was still oozing. Again in another five minutes, it was still oozing.

“Can you hold the pad while I get the doctor?”

“Sure,” I said. I sighed heavily, realizing that half of tomorrow would be spent getting an infusion. It was too late in the day to get it done now.

The dermatologist came in looking a bit concerned, but not apologetic. What was normally easy for him, looked more challenging now that he understood the consequences of what he believed was a simple procedure.

“We could put some jell foam on it and bandage it securely,” he offered.

“That would be a good idea,” I responded trying to cleanse my tone of sarcasm.

The nurse muttered, “I’ve never used jell foam.”

Before the doctor could respond, I said “You’ll have to sterilize scissors and cut a small piece to put over the cut. We used to keep jell foam in the house when I was a child and my mother sterilized the scissors with rubbing alcohol.”

“Right,” the doctor said, “and crisscross the tape to keep the bandage on tight.” Off he went to another patient.

I left the office with a bandage that covered more than half my left cheek. The waiting room was standing room only by that time. I got in the car and called the hematologist to see if I could get an infusion the next morning.

The hematologist removed the bandage after the infusion so she could see the cut. It was less than a half-inch slit, but three days later she had me come back for another infusion, just to make sure the cut healed fully.

The following week the report came in the mail. Benign.

“It never fails to amaze me how so many doctors - your's in particular - always know so much better and refuse to listen. I mean, you've lived with your body for six decades. Is it a guy thing?” my cousin commented afterwards. In truth I think it is part of the territory for having a rare disease.

Sunday, January 24, 2016

Not Today

One of the youngest members of our Fibrinogen Free community recently had a conversation with his cousin that went like this.

Cousin: "Do you have Hemophilia?"

Response: "Umm, not today."

I think I know how he feels. I began this blog six years ago, and I haven’t posted in almost two years. Each time I think about posting I think to myself, “Umm, not today.” At 66 years of age I actually feel like I don’t have a bleeding disorder except for the few hours I spend each week being infused with Factor I.

The biggest change is that fibrinogen concentrate is now available and cleansed of known viruses. The standard of care is to use this concentrate on a prophylactic basis so that it prevents the deterioration of joint tissue and life threatening bleeding. And, gene therapy is in the works. Then there will be no more concern about what undetectable hazard has entered the blood pool. I believe it will not be long before Factor I deficiency is a thing of the past.

When I began this blog I hoped to find some more people who either had a fibrinogen deficiency or had someone who was a family member with little or no fibrinogen. We are a small group yet we know there are more. We learn from each other, support one another, and advocate together. I am grateful that folks younger than I are using social media to reach out and say, “Hello, you are not alone.” 

Scars from bleeds in the past now limit my walking. I don’t climb stairs with ease. Knees, ankles, shoulders, and back aches remind me daily that being born with no fibrinogen has taken a toll. My brain does not function the way it did before a hemorrhagic stroke in 2002.

The more we know about preventing unnecessary bleeding incidents the healthier we will be. Because I am currently the oldest member of our online community I remember the bad old days viscerally. My body and mind signal the reminders of insufficient treatments or delayed medical attention. There are still many people who experience this needlessly. There are still doctors who do not properly diagnose or treat those of us with Factor I deficiency.

We all deserve to have more days when we don’t feel like we have hemophilia.