I recall when I was preparing for my FCPS Part II exam and me and my colleague planned to go to Jinnah Post Graduate Medical Center (JPMC) to see some cases to prepare from Medical wards.
It is a routine that FCPS II candidates flock at different wards to study difficult cases and this entire herd is recognized well by all in the wards, as the most honest and dedicated to learn well before exams! So on our routine task to take history, examine the patient and make a diagnosis while file is hidden and the we later go through the file to find whether we were correct in diagnosis or not?
When we entered the ward, we asked the medical officer to tell us about a difficult and complicated case suitable for FCPS II exam preparation. He pointed towards bed number 5 and we asked him to take the file away from the patient so that we could concentrate on our skills.
When I looked at the patient, I was prepared to make a spot diagnosis by looking at the face of the patient bur there was not such a look! The patient was a young girl of 18 years old and she was sitting comfortably on bed talking with an attendant standing beside her. She was looking a healthy person by her general condition and I thought that we were wrongly sent on this bed as she looked quite well to me.
I started talking to her after introducing myself and took her bio data. She had come from interior of Sind village with her father for treatment in Karachi. So that young man beside her was her father! I asked her about what was her complaint and she told us that she gets her nosebleed off and on since her childhood. We looked to her father and he told us that during her early childhood she had her first nosebleed that it continued every 6-8 months that she was having it till now. And the nosebleed at times was so profuse that had made her unconscious and being landed in emergency room to be resuscitated from shock after intravenous infusions and blood transfusions. I took her history in detail, she was born by normal vaginal delivery and her all milestones were normal. Her parents did not suffer from any disorder. She was the only child of her parents. Her menarche began normally at the age of 13 years and the cycles were regular. She had no comorbid.
Then I started her physical examination, which was unremarkable. She had no lymphadenopathy, no bruises, no tenderness in her sternum or ribs; her hands and nails were normal. Her abdominal exam revealed no enlargement of liver or spleen. Her nasal turbinates were normal and there was no sigh of any local lesion.
My colleagues and I, made our differential diagnosis of thrombocytopenia (from cause to be found), acute leukemia and bleeding disorders. Then we checked her complete picture of blood; it was normal of all the days that she was admitted with normal number of platelets of about 175000/cmm. Her hemoglobin was normal so all the counts of white blood cells with no blasts in the peripheral film. Her PT and APTT were also normal. Her reticulocytes were also normal. Her ultrasound abdomen was also normal. Her x-ray chest was also normal. Her other panels were also normal.
By the time we were feeling frustration as what was wrong with her, all of a sudden she started to have a nosebleed, blood just gushing out rather pouring out of her right nostril and the father started screaming for help. All doctors rushed towards her, connecting intravenous line and instructed her father to arrange mega unit platelets immediately for transfusion. He being panicked saw us with tearful eyes showing helplessness. We both immediately grabbed her file and went through it and the file told us that as her platelets were normal but her bleeding time was prolonged. So the next test that was ordered was platelet function test and it came out to be positive showing absence of Gp Ib-IX-V receptor of platelets with lacking adhesions to be made with platelets and vWF vonWillbrand factor), an autosomal recessive disease called Bernard-Soulier syndrome.
I looked at the eyes of her father; they were full of tears and helplessness. I could not think about how he had brought up her daughter! I could not think beyond it as the disease has no treatment except to transfuse platelets every time the patient bleeds! Her father had no money to arrange mega unit platelets. He seemed so desperate. At that moment my colleague told me that he had a contact with a rich businessman who once told him to ask for help for any poor patient so he made a call from his mobile. After an hour, that gentleman sent fifteen thousand rupees by a person who came to the ward asking for my colleague. We handed over that money to the father. I saw my colleague, his eyes were full of tears and my eyes were also overflowing! I thanked God that such generous and righteous people exist in my country and surely because of such people my country is surviving! That day I came back home with a heavy heart.
Dr. Zeba Hisam