The internist consulted me to help with this patient’s respiratory status.  He told me, “She has Osteogenesis Imperfecta with some right heart failure and is having trouble breathing.  I don’t know what else to do at this point.”

“I’ll be happy to see her.  What room is she in?”

He told me her room number, and then said, “And she’s two and a half feet tall.”

I’m not sure why he added that, except to perhaps put things in perspective for me to ponder until I saw her.  Later that day, I was finally able to find the time to see her after taking care of my patients in the Intensive Care Unit. I didn’t know much about Osteogenesis Imperfecta, but I remembered a little about it from my genetics and pediatric rotations as a medical student, years ago.  So, I looked it up before my visit with her and basically learned that it was and Autosomal Dominant mutation, an inherited connective tissue disorder associated with a collagen defect and was also known as “Brittle Bone Disease”.  These patients have variable presentations, but almost all have short stature, multiple fractures, basilar skull deformities as well as chest wall defects and scoliosis of the spine.

When I entered her room, I saw her sitting in her electric wheelchair at the side of her bed, her tiny, atrophied legs curled under her like soft pretzel dough.   I introduced myself to the patient and her friend, and she smiled and showed me her bright, playful eyes. “Nice to meet you, Dr. Carson.  How are you today?”

I was struck by how friendly and kind she was to me, a physician she never met. We immediately connected and I interviewed her, bending over to her wheelchair, so she could hear me. Her chest wall was severely deformed, her scoliotic spine pushed inwards, squishing her heart and lungs against her sternum. She was on oxygen, but amazingly, she had never required oxygen before, during her 55 years on this earth.  I was able to discern that over the years, the strain on her heart from the mechanical restriction imposed by her disease on the heart and lungs residing together within the chest cavity extracted a toll on her respiratory status.  She was not ventilating well, especially at night when her lung volumes decreased even more.

“I’m short of breath more now, and that has made me retire from my job.”

I was amazed she was able to function and work with her condition, and I asked what type of work she did.  She responded that she sold insurance for many years, then worked selling land.  She also kept busy at home by sponsoring many foreign exchange students over the years.

 I said, “You must have been a very good sales person.”

She said, “Yes, would you like to buy a dead horse?  I can give you two for the price of one.”

I laughed at her humor and I could tell she enjoyed it.  She had a zest for life that was infectious to all who were lucky enough to be around her.

I told her that her right heart was gradually failing, due to her disease, and that her lungs were no longer able to ventilator her properly, but she was not in immediate danger of death, but there was no cure. However, I was able to get her a mask ventilator machine to use just at night, to provide her assistance, and she was happy to hear about that technology and wanted to try it.  We discussed that some day, her heart would fail, and her ventilation would become worse, and those were difficult words for me to say to her, but I needed to say them, because I felt no one else had given her the truth.  I asked if she wanted cardio-pulmonary resuscitation if her heart and lungs should fail.

I said, “I am sorry to have brought up end of life issues with you on our first visit, but I wondered if anyone else had discussed it with you, or whether you had thought about it before? “No Dr. Carson, you are the first. I appreciate you bringing it up, just in case. No, I don’t want CPR or life support should my body finally fail. You see Dr. Carson, I have lived a good life and have enjoyed it and that would not be life for me.”

I smiled, asked if she had any other questions, and told her that I would set her up for her nocturnal mask ventilator.  She said, “have a good day, Dr. Carson and thanks for stopping by. You sure you don’t want to buy that dead horse?”

When I left her room, I felt that she was a special person with a contented soul who loved the life that was given to her, despite her severe disabilities since birth.  I realized that my complaints, pains or problems in life were inconsequential, compared to what she had experienced.  But then, each day in my medical career, I see examples of this, and it makes me thankful for the many gifts from God that I have received in my life that others do not enjoy.

I still remember her words, whenever I am down for some reason, I simply recall her words: “I have lived a good life Dr. Carson.”

©SRCarson 2020