June 8, 2000.

My mother always told me that our lives were planned from the day we were born by Someone who knew the best for us. Sometimes it was difficult to see or to understand the rationale behind her belief. I know that there were times in my life when I certainly questioned why things happened the way they did, but I am now beginning to understand that my mother was indeed a wise woman. And, as I begin to see the answer to my questions as to why tragedy entered my life as it did, I am also realizing that it was all part of a picture which is only now beginning to come clear to me.

 

I am aware of a growing sense of peace, which has been missing for almost half a century, a feeling that there was indeed a reason for my loss and sorrow, my tears and heartache. The ache will never go away but I can now share it with others in a way that I never thought would be possible.

 

Who would ever have imagined that today would find me sitting at my computer writing this? Am I a computer whiz? No. Did I work with computers at some point in my life? No. Did I ever learn how to type? No, again. I never looked at a typewriter till I got the computer just over two years ago. Why did I get it? Good question.

 

As I came to the end of twenty-one years of fostering children, I knew that the wonderful thing known as "retirement" was looming ahead and I was not too thrilled at the prospect. I had done my share of knitting when my children were young and really had no intense desire to take it up again much as I loved my grandchildren, so I had to think of something else to do in my spare time.

 

Not wanting to be known as part of the "Lost Generation" that I figured I had left when I finally, with a lot of protest and the greatest of difficulty, found the courage to use a bank card for the first time, I had an idea. A computer! "That's it! I will get myself a computer!" My grown children are still looking amazed and saying "Mum has bought a what?" Considering that I cannot even work a VCR and a cell phone just blows my mind, I can understand their amazement.

 

Little did I know that my decision would lead me on a journey of discovery that is both heartbreaking and rewarding, filled with new friends in many parts of the world, strangers to each other but all of us connected in a very sad but inspiring way.

 

GENES

Such a small word with so many large implications. How many people never think of genes, or if they were asked what they are would have no idea how to answer?

 

How many people know that our genes make us what we are and that our makeup depends on our parent's genetic makeup, just as our children's makeup depends on ours and our parents? How many people can tell you that we all have approximately 100,000 genes in our bodies, each one containing a vital bit of information about our makeup? How many people know that the slightest little change in a gene, known as a mutation, can cause devastation and pain and suffering which has to be experienced to be understood? And how little do people whose lives have never been affected by a gene mutation realize how fortunate they are? What got me started on this journey which is bringing knowledge and friendship and tears as I travel along the way? A simple little gene which we know now as G4.5.

 

THE START OF MY JOURNEY

I guess it all started for me way back in London, England, in 1958. I was the world's proudest mother and I had the world's most beautiful baby boy. I would look at him as he lay sleeping and think to myself that noone in the world had ever given birth to such a perfect miracle. He had the blondest hair, the brownest eyes, and the cutest nose you could possibly imagine. He had the chubbiest cheeks which would grow rosy as he slept. Every day I would walk out with him in his perambulator and would glow when people would tell me how beautiful he was. As if I needed to be told.

 

At the age of seven months and twenty-four days, with no warning, my son died. A slight cough, some little spots on his right wrist, barely discernible, a hospital admission because of the suspicion that he might have chicken pox. And in those days you did not ague or question a doctor's decision. Nor were you allowed to stay in the hospital with your child. A very short visit to the hospital the next day. A short, never-to-be-forgotten few minutes with my little boy, who had just cut his first tooth. My aching breasts which were still full of milk as his father and I left the hospital that Sunday.

 

And then the police at the door at one a.m., asking us to go to the hospital. The doctors trying to tell me something that I knew could not possibly be true. I screamed my denial at them. It was a nightmare which would go away when I wakened. My little boy's face was rosy as it always was when he was asleep and I tried to tell the doctors that if they would only let me hold him, he would waken up and smile at me as he did each time he opened his eyes and saw me. But they would not let me. And the nightmare was real. It did not go away.

 

We were told after the autopsy that he had an extremely rare heart condition known as fibroelastosis which did not reveal itself by a heart murmur and thus was not diagnosed during his life. We were told that if he had lived longer, the excitement of Christmas, or a new bicycle, or playing a game of football could have the same result. We were also told that it was a one-in-a-million happening that would never occur again. A heart condition which could not be diagnosed by a heart murmur, and consequently was seldom diagnosed during life.

 

I will not try to describe my feelings at this point. Those of you who have lost a child do not need to be told, for you already know that the never-ending pain of such a loss, the pain that never goes away. And for those who have not lost a child, I pray that you will never know the pain. Suffice it to say that somehow life went on and when I found myself pregnant with my second child three years later, I looked forward to the birth so eagerly. Then I found that lightning can indeed strike in the same place twice. For seven weeks before my child was delivered, I knew that there was not going to be a live birth. Almost three years after Kieran died, my little Jonathan was stillborn one week before his expected date of arrival. I can still recall the pain I felt that morning as I left the City of London Maternity Hospital with empty arms.

 

Years went by and my three beautiful daughters were born, the loves of my life. But I never forgot the beautiful little boy who was in my arms for such a short time. With each passing year I see him, each time a year older. In my mind, I have watched him grow from a baby to a toddler to a teenager to a man. And on each birthday and each Christmas I cry my silent tears for the missing child. No less do I grieve for the little one I never held. I grieve for the daughters-in-law that I might have had, for the grandchildren they might have given me. For when you lose a child, you lose part of your future.

 

As I travel this journey, each time I meet other parents who have lost a child, my heart aches for them, faceless people who were strangers to me until fate brought us together on the internet, each with his own unique story to tell.

 

TRAVIS

It was in December of 1995 that my daughter and son-in-law took my eight-month-old grandson to the Hospital for Sick Children in Toronto. It was a Sunday. My grandson had not been well for several weeks, twelve to be exact. He has been diagnosed as suffering from bronchiolitis on the numerous occasions during those weeks when she had taken him to doctors. At Sick Kids, he was sent for an echocardiogram. My daughter heard the word "transplant." On being questioned by the doctors, she replied that yes, there had been a cardiac problem in the family; a little brother that she never knew had died from a heart condition thirty-eight years before.

 

When my daughter and son-in-law came home that night without my grandson, who had been admitted to hospital, I can only remember hearing the terrible words she spoke as she grabbed me: "Mum, he has the same thing that Kieran had." I went into a time warp, my mind went back to the terrible night in London when I screamed, "No, I don't believe you" at the doctor who had just told me my son was dead. I screamed the same words at my daughter. My little grandson could not possibly have the same condition that my son had because no one knew for certain just what my son had.

 

Next morning in the hospital, a doctor looked at me and asked if I were certain of the diagnosis on my son. I remember thinking to myself that he was looking at my gray hair and thinking "Does this little old lady really remember after all these years?" and I still see the expression on his face as I handed him a well-folded piece of paper and said, "Here, read it for yourself. This is the autopsy report." How could I ever forget the words? And why had I brought that little piece of paper with me when I left England twenty-two years earlier? Why had I saved it for thirty-eight years I think I am now beginning to get the answers to those questions.

 

Well, next came DNA testing, muscle biopsy, blood tests, questions after questions by doctor after doctor. My immediate reaction that I had caused this to happen; the terrible feeling of guilt that I had passed this on to my daughter's child; the social worker who tried to reassure me that it was not my fault. And finally, after several months of waiting, the confirmation that my beautiful little grandson had an extremely rare condition, an X-linked chromosomal disorder that causes a defect gene to be passed from the mother to the boy child.

 

We could find no information anywhere at first. I recall phoning England to speak to someone at the Metabolic Research Trust for Children. Calling the National Organization for Rare Diseases in the USA. Calling the Association for Babies with Carnitine Deficiency, also in the USA. I also tried making a pact with God. "Please, God, take me and let my grandson live." I finally figured out that God did not work that way.

 

The first printed word that I ever saw on Barth Syndrome came from a kindly geneticist in a nearby hospital. Then another small article mailed from England. I was afraid to show the information to my daughter. She did not want to talk about it to me. Nor to anyone else, for that matter. Till one day, someone saw a posting on the internet from Annie in Australia, whose eight-year-old son had Barth Syndrome. And my daughter e-mailed her. The day she received Annie's reply was like a miracle, an answer to prayer. Finally, my beautiful girl had met someone to whom she could relate. And at that point, a wonderful friendship was born. I immediately phoned Annie's mum in Australia. She had lost her first-born son to a heart condition which I think we can say was definitely Barths. Her second son had been diagnosed with it and had actually received a heart transplant at the age of sixteen.

 

Over the next year or so, between us we managed to put together a package of information on Barth Syndrome and when a doctor would say: "What syndrome?" he was handed a package.

 

ANNA AND ALDO

More searching on the internet led me to a site about Rare Genetic Diseases in Children and, by a coincidence, there had been another posting from Anna, who lives in New Hampshire. Her five-year-old son Aldo had Barth Syndrome. She had been looking for information for five years. The morning I contacted Anna was a day I will never forget. E-mails flew back and forth at an alarming rate, hers anyways because I was and still am a one-finger typist. We spent a whole day sending and receiving information. Anna sent me her address and I mailed her one of our information packages. Since then we have formed a strong friendship; she is always there with the right words to say in times of trouble. Anna and I met on the internet in July, 1998.

SHELLEY AND MICHAEL

Two months later, in September, 1998, Shelley, who lives in Florida, e-mailed me. She had lost her first child at the age of four and a half. He had been diagnosed with Barth Syndrome. And I grieved for Shelley. Her eleven-year-old son Michael also had Barths. Shelley had taken Michael to the Netherlands to see Dr. Barth, who had named the syndrome in 1981. And Shelley had a dream. She dreamed of a conference for the parents of children who had been diagnosed with Barth Syndrome, where we could all get to know each other and the children could get together. Where we could meet doctors who knew about, and could answer questions about Barths. So there we were, twenty-one months ago, four women on this side of the world and two in Australia. I cannot help thinking at this point of a song from "South Pacific" and the words "If you never have a dream, you'll never have a dream come true." And Shelley drew us all into her dream.

 

JASMIN, LYEM and DEBRA

A year ago, Shelley e-mailed me, asking me to contact a grandmother in Nova Scotia whose three-year-old grandson had Barths. And I thought, "What the heck, you have phoned all over the place, might as well call Nova Scotia," and I did. And Debra, Lyem's grandmother, and I talked for five hours that first day. She had lost her little boy at the age of eight months with a cardiac problem. Now she knew what it was because her daughter Jasmin's little boy, Lyem, had been diagnosed with Barth Syndrome. Debra and I have talked many times since and I have a feeling that another lifelong friendship had been formed.

 

Then Gillian, a grandmother in South Africa, joined my increasing circle of friends. Her little grandson, aged three, had been diagnosed along with his four-year-old cousin. Their mothers and sisters joined our ever-growing group of parents.

 

And then there is Sue, mother of John, described as "a ray of sunshine" by Anna.

 

JOKE

Then my friend Joke, mother of Peter, who lives in the Netherlands, came into the picture in March of last year. Her grandmother had lost five boys, all at a very young age; her mother has lost three boys; her aunt had lost four boys; four of her cousins had lost six boys between them. I read her letter and thanked God for the miracle of genetic research. Joke did not have e-mail until recently, and so we wrote each other long letters for over a year, and it was in sharing some of my innermost feelings with her, telling her things that I had never shared with another living being about my feelings after the death of my baby, reading of how Joke suffered at the deaths of her little brothers, that I began, after a lifetime, to feel a little less sad about what had happened to me so long ago.

 

Her description of how she and her family value each day: "We enjoy watching a butterfly, smelling a flower, eating an ice cream together. We make memories together." This helped me realize that these are the important things in life that we can all share with our children and grandchildren.

 

And the Dream comes true.

 

So it went on. Shelley set up a web site, shared her dream with Anna and Sue and Karen and Annie, and all the rest of us, far too many to mention, but all having a very important part in this story. We e-mailed and snail-mailed and phoned and spread the word that there was an official Barth Syndrome Family Support Group.

 

In less than a week the dream will come true. We will all meet each other in Baltimore, Maryland, along with Dr. Peter Barth from the Netherlands, Dr. Richard Kelley from the Kennedy Krieger Institute in Baltimore, Dr. Gerald Cox from the Children's Hospital in Boston, and many more of their colleagues. There will be at least one hundred parents, grandparents, and other relatives there. And we must not forget the children, at last count at least forty of them between two and twenty-two years of age, not just the boys with Barths, but their siblings also. From five continents and eight countries they are coming and we will all finally be able to put a face to the names that we have grown to rely on for support and friendship in such a very unique way over the internet. To finally be able to meet face-to-face with the friends we have made all over the past few years.

 

THE GRANDPARENTS

The grandparents who will be in Baltimore will each have their own stories to share. For so long, I thought that I was the only one. Little did I know that there were others whose sons would have been twenty-four, thirty-three, thirty-seven, forty-one, and which of these grandparents ever thought at the time when tragedy entered our lives that down the road we would one day get an answer to our question:

"Why?"

 

Knowing the answer will never take away that awful sense of loss and pain, but I do know that for me, seeing this event happening and being able to contribute to it with my one-finger typing, has become a source of comfort. I know that my child was not born, nor did he die, for no reason. My beloved mother was right. Our lives are planned for us by Someone up there.

 

I pray that this meeting will lead the way for future generations, as yet unborn, to be protected from Barths. I pray that my youngest daughter,also a carrier of the Barth gene, the mother of a beautiful two year old boy who is not affected,will be able to have another child. And that the knowledge gleaned from this meeting in Baltimore may help to ensure that she will again give birth to another healthy child.