A death in my family

The long, fleshy scar that slices around my dad's side just above his hip had never caused much concern in my family. We never even took much notice of it; though it was plainly visible in the morning when dad would come down to have his coffee wearing just a pair of boxer shorts. My uncle, dad's younger brother, carried the same scar in the same place. That scar never troubled us much either. We'd seen it dozens of times in the summer when Uncle Frankie would come over for family cookouts. He would always wear an old pair of dungaree cutoffs with the frayed edges around the legs. We loved it when he'd toss us kids over his shoulders in the swimming pool.

We all knew the story; Daddy and Uncle Frankie had to have their spleens removed when they were teenagers. Any cut or fall would make them bleed profusely and bruise terribly, "big bruises that looked like eggplants," my grandma used to say.

Several years ago, within a span of six months, my dad was stricken with three severe cases of pneumococcal meningitis, a flu-type germ that settled in his spine. This diagnosis was extremely critical for my father because, without his spleen, he was unable to produce sufficient antibodies to fight the germ. Although my dad did recover, he has lost sixty percent of the hearing in his left ear and must take penicillin every day for the rest of his life. But he did get better.

I remember praying very hard for my daddy to get well. There is something very assured, guaranteed and taken for granted about prayers when you're a little girl - maybe because you never really doubt that they will be answered.

But there came a day this past summer when no prayers were answered, a day of crushing tragedy that will never be lifted from the hearts of my family, the day my Uncle Frankie died.

The rare condition that has left my father with only part of his hearing that has made him dependent for life upon penicillin, the sickness that so savagely extinguished the life of my uncle has a name I can barely pronounce. In technical medical terms it is called idiopathic thrombocytopenic purpura which is a disease of unknown origin that causes excessive bleeding due to a lack of platelets in the blood.

Platelets are cells in the blood that allow blood clotting to take place. The absence of these cells can be associated with massive bleeding both internally and externally. The splenectomies performed on my father and my uncle corrected this deficiency by improving their platelet counts.

There appears to be a pattern of this condition in my family involving its male members who exhibit platelet deficiencies which make them susceptible to any infection from the organism pneumococcus. Pneumococcus is the common germ that causes colds, sore throats, ear infections, bronchitis and pneumonia.

The doctors studying my family ancestry have determined this to be a case of sex-linked platelet deficiency. Specifically, Dr. Arthur Horwich, of the Department of Human Genetics and Pediatrics at Yale University School of Medi­cine, believes the inheritance of the condition to be X~linked. This means that the gene for the disorder can be carried, without symptoms, by female family members, but will infect only those male members who inherit it. Affected males cannot pass this gene on to their male offspring but do pass it on to their female offspring. In this way, the female children become carriers of the trait fifty percent of their male children can possibly be infected, fifty percent of their female children will be possible carriers.

I am one of those female carriers. Suddenly, I have learned that I carry ­inside of me a defective gene that, though it cannot hurt me, may one day kill one of my sons or grandsons or mean that they will live in constant fear of the slightest sneeze or cold. How could I reconcile myself to the fact that breeding within me is the faulty gene that took the life of someone I love?

Could I ever comprehensibly describe the shattering experience of what it is like to hear that someone I love died? If I never see my cousin again, if I never hear her voice, I will never forget the struggling whisper of hopeless misery that seeped through the phone when she told me that my uncle died.

Died! Died! What did she mean died? People that close to you just don’t die. It can’t be over just like that. There has to another chance, some mistake. I’m sure we all have wondered at times what it would be like to have someone we love very much die, maybe pervasively wanted the sympathy it would bring. But no, never, never has anyone really wanted to know the most hollow feeling ever known, a feeling so empty that it consumes all of you, paralyzing every fiber of your being so that all emotions flow uncontrolled, without source, you’re not even a part of them. Even your soul is frozen.

After the icy shock of hearing news like this, there comes a terrifying sense of indecision over what to do with the knowledge. It is an impossible thought to even try to keep it inside and yet, how to impart such horror to someone else? I can still see my youngest brother dressed in his Little League uniform, his face flushed from hurrying to do his papers in the late afternoon June sun. He stood on the back porch with his huge brown eyes pleading and his little boy voiced choking with fear as he asked, “How is Uncle Frankie?” I shook my head and could feel hot tears stinging my eyes. But they weren’t just tears; they were my faith draining from my eyes. “He died,” I said to my baby brother.

As the impact of what I said coursed through his mind, cruel realization wreaking havoc with his defiant young innocence, he screamed, “No! No! He’s not dead!” He kept yelling it over and over, he wouldn’t believe me. How could I convince him? I couldn’t convince myself. I felt like I was lying. I tried to hold his writhing body as he threw himself as he threw himself against everything. He was fighting, fighting so hard to beat it away. I was glad he was fighting. All the anger, the denial, the aching inside of me, I could see coming from him. He was fighting out all that I felt but was too stunned to express. He struggled until his voice became all sobs, until he was drained and too weak to fight anymore.

"Too weak to fight" - That's what the doctors said happened to Uncle Frankie. With an already depleted supply of platelets, he didn't have a chance against the overwhelming infection that invaded his body. My uncle had been suffering from an ear infection, a form of the pneumococcal germ, for several days. The germ entered his bloodstream and spread with fierce speed, causing him to bleed internally. Even the massive doses of penicillin he received could not help. In a horrid irony, my uncles own body systems worked against him. More and more platelets were used up to battle the infection until his entire supply was finally exhausted. All day long, with a merciless persistence his skin kept turning purple all over as he continued to bleed inside.

My uncle's death stole a part of my father's life as well. I remember my dad coming home from the hospital. He stood in the middle of the kitchen wearing his brown knit pants, short sleeve cream colored button shirt and a perfectly matched print tie. His clothes, always so impeccably tailored, were now rumpled and creased from the wear of the day. His tan forehead showed even deeper creases, furrows of grief and devastation. He leaned on the table, maybe seeking support and his face, flushed with the heat of the day and the burning of his tears, contorted into sobs as he sputtered, "There's no more Uncle Frankie." He kept shaking his head, his face so sad as if he was a little boy who could not understand. I ran to my daddy and hugged him. I wanted him to comfort me. I wanted to comfort him. But there could be no comfort. I felt as if we were trying to escape falling into a huge dark chasm into which we had already fallen.

Were we in shock? What is shock? Do you know that you’re in it? What happens to your mind? I was in a daze but yet could see myself in that daze. I was lost and at the same time knew exactly where I was. After a while, not even tears came, only aching, real physical aching. I could feel my heart hurting. All of me hurt, inside and out. There was no room inside me to contain all the hurt and still nowhere for it to go. I could not truly comprehend what had happened. Maybe I could realize that I had lost an uncle; but my dad had lost a brother’ my grandma and grandpa, a son, my cousins, a father; and my aunt, a husband. How does a family lose such an important member? It can’t be real, but for my family it is.

Without one bit of choice or preference, you must accept death. No matter how hard you fight against it, you must accept. The profound agony is that inevitable acceptance, the feeling that you must surrender. Death has won and you have no defense, no second chance. I saw that agony on my father’s face as he stood outside the funeral parlor with his back pressed tight against the white concrete wall. He was trying desperately to grip the wall, to hold on to something. But the wall was flat. There was nothing to hold on to. He had to go inside, to accept that death was real.

The shock was so devastating and hard to accept for my family because, for us, death came without warning. Following my father’s severe bouts with meningitis, both my father and my uncle were evaluated at Yale New Haven Medical Center for the competency of their immune system. Both men were found to have reduced levels of “T-cells”, the white blood cells necessary for normal immunological function and to be especially deficient in their ability to produce antibodies against the pneumococcal germ, concluded Dr. John M. Dwyer, Associate Professor of Medicine and Pediatrics and Chief of Clinical Immunology at Yale University School of Medicine.

Dr. Dwyer determined my father to be a greater risk because of his history of meningitis and prescribed for him daily doses of penicillin which he has to continue to take for life. He advised my uncle and my father to make their personal physicians aware of the findings but said that there was no reason for them to worry about the long term effects of this condition, that he did not believe the abnormalities found within their blood to represent any ongoing deterioration in their immunological functioning. The results of these tests were obviously cause for concern, but after awhile we never thought much about them. We had no idea that this inherited blood condition would one day bring my family the deepest sorrow it could ever know, that it would one day gather us in a dimly lit funeral parlor with plaster green carpeting, cold marble statues and a suffocating smell of carnations and lilies.

I’m sure there is no one who likes to be in a funeral parlor. Within those walls everything becomes time less. No matter how hard you try to think of the name of some distant relative you haven’t seen in years, about what you should wear tomorrow, or whether or not it is sunny outside, a forcer grips you, wrenches you back, rivets your eyes to the casket. I remember my uncle’s casket-delicately carved mahogany polished to a deep woody glow, trimmed with sturdy brass fixtures and surrounded by an ocean of flowers, so many endless bunches, bouquets, arrangements of flowers.

As my eyes riveted there, on that casket, nothing else had meaning. I was trying to orient myself to reality, to concentrate on all the trivialities of daily existence, when, in fact, the reality was the one thing I was not thinking about. From the coffin, my eyes began to focus on the faces, the hazy sea of faces; hazy because I was crying or maybe because they were crying. And the re surrounding me, engulfing me, was the current of reality so strong that it swallowed me up.

I would just about pull myself together, somehow talk myself into being strong and then, like a machete, the sobs of someone near would cut into the armor, tearing apart my insides, as if someone had set loose a whirling blade in my heart. I sat there, unable to sit back because those folding chairs made my back ache and ache and then I’d lean forward and my back would ache even more. But I was glad my back was aching because for a split second I could pretend to forget the pain in my heart.

But the pain doesn’t go away. It may sometimes be masked by the numbing routine of everyday events, the pressing urgency of personal problems or the momentary elation of personal successes. But then, without warning, a belligerent memory intrudes upon your thoughts like a big wave knocking you down and dragging you under the water while rolling waves of pain and grief wash over you. It's the reliving of the actual, concrete events that sharpens the blade of memory and drags out your tears again and again.

I can still feel the anguish of my family as we followed the casket down the aisle of the church after the funeral. My aunt walked first, bravely holding the hands of her two little boys. My dad leaned heavily on my mom, while in his clenched hands he clutched tightly a photograph of my uncle. My grandparents, aunts, uncles, cousins, my brothers and sister followed in an agonizing procession. I clung to my oldest brother, feeling myself crumple into sobs - "How could God have done this to my family?"

We have all suffered an unbearable loss and now must face the fact that the ordeal is not over. My sister and l and possibly some of my female cousins are carriers of this gene. This fall, in an effort to further trace the inheritance of this condition, my brothers, sister, myself and all of my cousins underwent several blood tests to compare our blood to that of our parents and each other. While the results, of these tests found no immediate dangers for any of us, extensive research is still being conducted at the Yale Medical Center to help predict the onset of immunological problems for any member of my family in the future and to possibly prevent this gene from being passed on. However, for the present, my family still lives in fear. The fact remains that some female members of my family, including myself, may pass this gene on to our children.

It is an unfortunate but also a bittersweet truth that death brings out in a family some of its best qualities, resources its members may have never realized they possessed. My brothers, whom I so often regard as trials of my life, as “pains in the neck”, as somehow not capable of real feelings, revealed to me, during this-tragedy, their true characters, the depths of their true characters, the depths of their compassion and sensitivity. Jerry, our sixteen-year-old family comedian, always so arrogant and obnoxious, stood so straight and sober throughout the entire wake, never leaving my father’s side, periodically bringing him cone shaped paper rolls with sips of water or supporting his arm when dad seemed so weary with the strain of grief that he would surely fall. Jerry stood there, maybe needing attention himself, but all the same, giving support and comfort to my father in the best way that he could.

All my brothers, always so eager to tease me and make my life difficult, helped me, without even knowing it, to get through some of the toughest moments. There was always an arm to lean on, shoulders to hug, and a hand to hold. My eight-year-old sister stayed close to my little cousins, my grandparents and my mom and dad. She somehow knew that with her bright eyes, gentle baby face and loving ways she could bring comfort to those who so desperately needed it. She never whined or complained through the long, stagnant, uncomfortable hours of the wake and the funeral.

My mother, who comes from firm Irish stock, has an uncanny ability to manage with all odds against her, to somehow always get everything done, whether it’s the stains that must be bleached out of the white baseball pants for tomorrow’s game, the school book that has to be covered, the blouse that needs to be ironed or the cupcakes that must be baked for the Pop Warner Football bake sale. And yet, my mother, this Rock of Gibraltar, is the biggest cry baby I know. She is pathetically sensitive and can be reduced to tears by the latest crisis in her daytime soap opera. But my mother did not break down throughout the ordeal. Of course she cried, but she never fell apart. She remained a pillar of strength for all of us, filling the role always held by my dad, having to bear not only her own staggering grief, but also the bitter anger of the endless questions we kids spouted at her.

My brothers, sister and I directed all our questions and poured out all our tears on my mother because we could never have mustered the courage to bring them to my father. Conflicting feelings constantly gnawed at me. I wanted to hold my daddy and talk with him and yet there was a fear, a nagging hesitation to break the silence, to mention what had happened. I was afraid to ask him how he felt for fear of the answer which I already knew – he was destroyed.

My daddy was destroyed emotionally, his happiness annihilated. Yet because it was an emotional ruin, we could try to put the pieces back together. But for my uncle, the destruction was permanent; there was no way to make things better. He was gone, forever. On June 5, 1981, my uncle died at the age of thirty-four because, as Dr. Dwyer explained it, “his immunological functioning was grossly inadequate to fight the pneumococcal infection that invaded his blood stream.” What had once been an unusual condition present in my family, of keen interest to doctors, especially genetic specialists, because of its rarity, what had been just a vague worry has now become cruel reality for my family. In one interminable day, my uncle’s life was taken from us. He was rushed to the hospital early in the morning because of an extremely high fever and by six’ o’ clock that night, he was dead. It was a brutal, irrevocable separation. We were forced to say goodbye to someone we love.

The finality of this goodbye was never completely tangible until we stood at my uncle’s grave. A warm summer sun beat down through a light, whispering breeze, just enough to make the day pleasant, but it made me shiver. There were some relatives there I had never seen before, or not since I was a baby. You know Italian families, so many aunts, uncles, cousins, great-aunts, second-cousins – they were all there, moaning, wailing, and sobbing for their Frankie. I felt as if we were all climbing into that grave, trying to bring him back. It struck me, as I stood there amidst all the misery, that even though to me, my uncle was a young man dying much too early, leaving too much behind, to these great-aunts, second cousins, these weeping women and silent men, he was just a little boy with wavy black curls, big brown eyes and smooth tawny Italian skin, their little Frankie being put into that grave. This thought made the pain cute even deeper.

I still clutched the red rose my uncle’s oldest son, eight-year-old Jay, had given me at the funeral parlor. I placed it with the rest of the flowers on the casket and then I cried, the hardest I cried throughout the whole ordeal. The sobs came from deep within me, the most profound, sadness I have ever felt, and the most helpless, desolate sense of loss I think I will ever know. I wanted desperately for someone to especially comfort me, to be holding me. I felt so alone. I knew that God was testing me. He wanted me to face this moment all by myself and it hurt so bad.

I never returned to the cemetery again until almost a year later, this past Easter, with my family. No one wanted to go but it was important to my dad. He needed to be close to his brother on this holiday. A beautiful cross woven with palm leaves leaned against the front of the gravestone and a bright yellow Easter egg with “Happy Easter Daddy” stenciled in white crayon and wrapped with a colorful paper banner that read, “I Love You” rested on the front ledge of the stone. I had never seen the headstone before. My aunt was such a special, sweet lady. Her patient and enduring acceptance of death, her love for her husband and her bereavement over his death are expressed so well in words carved upon the stone. The inscription reads – Once Two – Now One. These words symbolize the road my young, widowed aunt must travel alone. The joys, sorrows, love and even the everyday events she once shared are now only hers. But I also read into these words the deep communion of spirit my aunt and uncle experienced in their marriage. Their love was so strong that it united what was once two separate people into one being.

I stared and stared at that inscription, at the headstone, at the palm cross, at the bright yellow Easter eggs and tears streamed down my cheeks. I saw tears on the faces of all my family. Our silence hung heavy in the breezy April morning. My dad seemed O.K. at first. He stooped down to look at the little Easter egg and then he stood up and stared at the grave. His mouth began to tremble and he began to cry. I wondered how, with such a heavy cross to bear we have all managed to continue with our lives, to sometimes not even think about it.

The prevailing feeling of guilt that accompanies death, the feeling that you have no right to be happy, to laugh, to dream, to plan your future, returned to me then. I recognize this as a selfish guilt, an instinctive need for sympathy of others. You tell yourself not to be happy and make your grief visible so that everyone can see and know that you’re hurting, so they will forget the tragedy that has taken place in your life.

But the tragedy has taken place and my family will never forget. Then, there are moments when it all seems impossible. After experiencing death so close, with such an icy grasp upon me, I have come to believe that the pain does not emanate so much from my personal loss as from seeing the terrible hurt felt by others so close to me whose loss cuts so much deeper, whose emptiness is so much more pervading, so much closer to nothingness.

There can’t be anything more anguishing than to watch helplessly while those you lover are grieving. I have struggled in vain to find reason for their grief, to create a perspective through which to view what has happened. I have not yet been able to find that perspective.

Dr. Dwyer, from Yale University School of Medicine, has recently suggested the possibility that the rare, sex linked blood condition from which my family suffers, is, in fact a variant of the Wiskott-Aldrich Syndrome. This diagnosis involves severe thrombocytopenia (deficiency of platelets), eczema (acute or chronic skin inflammation), immunological abnormality and an inability to produce antibodies against certain germ-carrying agent.

All these symptoms, except eczema, were found in my father, my uncle and two other male members of my family (a second cousin and a great-uncle). However, the absence of any eczema symptoms prevents a positive diagnosis of my family’s blood condition as a variant of the Wiskott-Aldrich Syndrome admits Dr. Dwyer.

Dr. Nicholas Spinelli, Director of Education in Bridgeport, Conn., states that with the abundance of genetic research being conducted, doctors are hopeful that, by the time I am ready to have children; there will be a way to freeze a defective gene and thus prevent it from being passed on.

According to Dr. Margretta R Seashore, Director of Genetic Consultation Services at Yale University School of Medicine, researchers are also trying to help identify family members who are either carrying or at risk for being affected by a particular gene. One such test involves special chromosomal studies and is being conducted at Sloan-Kettering Hospital in New York, Dr. Seashore explained.

Another possible method of identifying a defective gene, continued Dr. Seashore, involves the use of DNA studies. This appears to be an effective approach but may not be feasible for a few years, she said.

Yet while all the research data is promising there is still no cure and prevention. A positive diagnosis of this blood condition cannot even be made. It frightens me to know that there so many questions still unanswered. The question that troubles the most is Why? Why has such a young life been taken and so many people left to bear so much pain? I am afraid that this question will never be answered.

My uncle was such a good man, so giving of himself, especially to his family. He leaves behind a young wife, three small children and so many people who love him very much. The senselessness of his death has put my faith in God to the most severe test it has ever faced. I have no choice but to accept what has happened; but I don’t believe I will ever understand it. Sometimes the only way to hold on to my faith is to force myself to reflect upon all that is good in my life. No matter how inadequate a cure may seem, Time is truly the best healer; not because it takes you further from death, but because slowly, slowly, you realize life goes on.

Epilogue

This essay was written by Ellen Pinto Martino. Ellen composed this essay for a journalism course while attending Boston University in the early 1980’s. At the time of writing, the emotional fall out on the entire Pinto family was quite significant. The family suffered a tremendous loss and quickly realized the lasting emotional and medical implications of Wiskott-Aldrich Syndrome for existing and future generations of the family.

While this essay tells of a very dark and painful reality for the family and for the reader, today the outlook is brighter. Alexander Pinto, brother to Frankie, continues to live a full and active life. He is 73 years old and works full time in sales. Alexander recently celebrated his 50th wedding anniversary with his wife Mary Ellen. He has raised six children, and has ten healthy grandchildren, with one more on the way. Quinn, age 5, grandson to Alexander and Ellen’s nephew, has WAS/XLT. Quinn’s condition has presented only mild symptoms and he leads a wonderfully active life and receives tremendous medical care.

Frankie is missed dearly. His three children are all doing incredibly well. They are a close knit family as a result of their mom, Peggy’s dedication to raising her children to focus on the positive aspects of life while never losing sight of their dad’s loving nature and positive approach to life. Frankie’s legacy has been blessed with three beautiful grandchildren.

So much has been learned about the diagnosis and treatment of Wiskott-Aldrich Syndrome over the past decade. Family networking and expert collaboration in this field has helped to improve overall patient prognosis and has been invaluable in helping families to cope with this syndrome.