Daviau Family Story
I have a very strong family history of Pelizaeus-Merzbacher Disease (PMD) going back at least 8 generations. Even though this a hereditary disease, this seems to be the exception, not the rule. I only know of a dozen, or so, families that have multiple generations of PMD. My family has been dealing with this disease for over 150 years, we have had approximately 30 PMD males born in 8 generations. My great, great grandmother was a carrier, she had 2 children, my great grandmother, who was a carrier and an affected son. My great grandmother had 8 children, 6 girls and 2 boys. The 2 boys were both affected, 2 girls had no children, the other 4 were all carriers, 1 of those 4 girls was my grandmother. My Grandmother had 14 children! She had 8 boys and 6 girls, 2 of the boys were normal, 3 were definitely affected and 3 died shortly after birth, so it was impossible to make a diagnosis, they were always assumed to be affected. Two daughters had only girls and the other 4 were all carriers, 1 of those 4 was my mother. My mother had 5 children, 3 girls and 2 boys, 1 girl and 1 boy were stillborn, the other boy was normal, 1 girl (Me) is a known carrier & 1 girl was tested as a non-carrier (my younger sister, who has never been able to have children). I had 3 children, all boys, all affected with PMD. Georgie b. 4/1/73 - d. 4/9/85, Adam b. 6/11/76 - d. 3/18/01, Brantley b. 4/30/82 - d. 3/24/85. Our youngest and oldest sons died at ages 2 and 12 years, respectfully. My oldest PMD cousin lived to be only 14 years old, so Adam, at age 24, was truly a miracle.
I have a very strong family history of Pelizaeus-Merzbacher Disease (PMD) going back at least 8 generations. Even though this a hereditary disease, this seems to be the exception, not the rule. I only know of a dozen, or so, families that have multiple generations of PMD. My family has been dealing with this disease for over 150 years, we have had approximately 30 PMD males born in 8 generations. My great, great grandmother was a carrier, she had 2 children, my great grandmother, who was a carrier and an affected son. My great grandmother had 8 children, 6 girls and 2 boys. The 2 boys were both affected, 2 girls had no children, the other 4 were all carriers, 1 of those 4 girls was my grandmother. My Grandmother had 14 children! She had 8 boys and 6 girls, 2 of the boys were normal, 3 were definitely affected and 3 died shortly after birth, so it was impossible to make a diagnosis, they were always assumed to be affected. Two daughters had only girls and the other 4 were all carriers, 1 of those 4 was my mother. My mother had 5 children, 3 girls and 2 boys, 1 girl and 1 boy were stillborn, the other boy was normal, 1 girl (Me) is a known carrier & 1 girl was tested as a non-carrier (my younger sister, who has never been able to have children). I had 3 children, all boys, all affected with PMD. Georgie b. 4/1/73 - d. 4/9/85, Adam b. 6/11/76 - d. 3/18/01, Brantley b. 4/30/82 - d. 3/24/85. Our youngest and oldest sons died at ages 2 and 12 years, respectfully. My oldest PMD cousin lived to be only 14 years old, so Adam, at age 24, was truly a miracle.
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My family seems to have the most severe form of this disease. Our boys usually show symptoms within the first few weeks of life, but unlike other families, we are always looking for signs, if the child is a male. All our PMD males have pretty much followed the same pattern, in abilities & life expectancies, but to every rule there are exceptions, note the ages of our sons.
With our oldest I noticed the strange eye movements (nystagmus) the first time I saw him. My mother knew he was affected just by seeing him through the nursery window. Not having an affected brother myself, I was not familiar with the little signs. I only knew my PMD cousin and I was just 4 yrs older than him, so I couldn't remember him as an infant. My mother didn't share her concerns with me, right away. I believe she let us bond as a family, as she knew it wouldn't make a difference, if we had a diagnosis or not the first few weeks. |
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With Adam we noticed the eye movements at about 9 days & Brantley about the same time. Georgie was officially diagnosed at about 4 months, Adam at 6 weeks & Brantley at 4 weeks. We, as a family, were certain before the official confirmation of Dr. DeMyer.
They all had feeding difficulties. Georgie had feeding problems before we even left the hospital, which the nurse was quick to blame on me being a new mom. Their poor sucking, was probably due to a combination of things, such as low muscle tone, and a high palate (roof of the mouth). They would take about 2 ozs and be exhausted, fall asleep, wake in 2 hours, take 1 to 2 more ozs. They were able to handle solid foods much easier than liquids. They had a sort of fluctuating tone. Rather low tone at birth and in a few weeks some spasticity, yet still floppy. I remember Dr's saying how strong Georgie was.
As I look back, I think what dummies, but I hadn't told them about this problem. I was young and was living in my own little world. I had a healthy brother, I took good care of myself during my pregnancy, life was going to be just peachy!! Little house, white picket fence, our first child, a boy, the first grandbaby on both sides. Surprise!
I kept listening to the reassurances of the Dr's and others as he failed to gain head control & gain weight properly. It wasn't until one of my Mom's cousins, who had, had 2 affected sons, came to visit and I overheard her and my Mom, commenting on all the things I was concerned about, that I began to put things together. It was like a light went on. By then the Dr was getting concerned. I wasn't as educated then as I am now, I didn't even know what this disease was called. We just referred to it as "one of those boys" and everyone knew someone in the family who had or had, had an affected son.
We were very fortunate that the Pediatric Resident who was working with us, had just finished a rotation at Riley Children's Hospital, with Dr. William DeMyer, who was the expert on PMD and arranged for us to see him. Over the years, Dr. DeMyer became not only our children's Dr, but a friend as well. He passed away in 2009, but before his death he had passed the PMD responsibilities over to Dr. Larry Walsh, who has continued to provide the same care and attention to the PMD patients and their families as his Mentor.
When we got the diagnosis of PMD, I knew what it meant. I had seen it many times before, but we never had an official name for it. My husband was somewhat prepared, my Aunt had made it very clear to him one day, that if he married me and we had children, we could have a child like her son, in those days that's how things worked!! Our boys never developed any real physical and/or self help skills. Tracking was always poor, they could track an object, but not across midline. Georgie was in glasses for a while when he started school, not sure how much they helped with vision, but they did seem to help with focusing. Adam was in glasses for a while, when he was about 9 to 15 months old, to correct his crossed eyes, it did help and we had no surgery. Years later, Adam wore glasses and they seemed to help. He was very content to wear them and when asked if he wanted them on he would usually "answer" yes.
Once we got past the initial colicky stage, they transformed into social butterflies. They all had that infectious smile, the flirtatious twinkle in their eyes and a sense of humor that bordered on the warped side!! There was a period where they could do some hand to mouth, with a teething biscuit, suckers with loop handles and mini candy canes. They did not reach, but if something was placed in that clinched little fist they could move it around. Their hand movements were athetoid like. They loved to knock things over. Head control was almost non-exsistant. When placed on their stomach, they would raise their head quickly and then slam it into the floor. They could scoot on their back, with a sidewinder type of movement. They could not bear weight, sit or talk.
Although they didn't talk, they managed to communicate with those around them, those who took time to "listen". They seemed to understand words and concepts and communicated by smiles, facial expressions and some small throaty vocalizations.
They all had "spells" that were diagnosed as seizures, although they were never documented by EEG's, as such, but they did respond to anticonvulsant medications. Georgie started having these "spells" around 3 to 4 months, we did all the tests and they showed no seizure activity. One day, my Uncle (husband of my Mother's Sister) was around, they had, had a PMD son and he immediately said, "this baby is having seizures". That was all I needed to hear, I went back to my Dr. and insisted they put him on some medication. He had a period where he probably have these spells 20 out of 24 hours in a day. We just got to the point where we would put him in bed between us, so he wouldn't get his arms or legs stuck in the rails of the crib and that's how we slept, if you could call that sleeping!
With Adam we went through the same tests, same results, but we didn't wait as long to get on medication. And Brantley had the advantage of having two older brothers, and wiser parents, first sign of the "spells", I marched into the Dr's office, without an appointment and made it clear what medication I wanted! He was very supportive, he didn't agree with me completely about the type of medication, but we reached a happy medium.
We always knew we wanted to have other children and knew the chances of having a second son with PMD, but in my family no one who had ever had more than one child had only PMD sons, if their first child was a PMD boy, their next child was a daughter or a healthy son, so we knew it was possible to have healthy children. When Georgie was about 2 yrs. old we decided we were ready to think about another child, after weighing all the pro's & con's, but this time we knew for sure I was a carrier, that we had a 50/50 chance of having another PMD son. At that time there were no tests to determine prenatally if the child would be affected or not. Adam was born on our 4th wedding anniversary. Dr. DeMyer came & saw him right away, everything seemed ok, but there were no tests to prove or disprove the diagnosis at that time. I noticed some head tremors in the hospital, but the nurse was very quick to reassure me that, that was something many babies do. When we came home I noticed some eye shaking when I would get up with him, when my husband would get up with him he wouldn't see anything, but in time it was obvious, he was diagnosed at about 6 weeks old.
We had almost decided we were not going to have any more children & were using birth control faithfully. But God decided differently! When I had Brantley, I was awake through the delivery so I saw him right away, I just knew he was affected, it was just one of those feelings I couldn't shake. Dr. DeMyer had supported our decision to make a more permanent choice about birth control and encouraged my doctor to do the surgery, at delivery, since I was having my 3rd C-section.
Dr. DeMyer came right away to check him out, but again there were no tests to prove or disprove the diagnosis, so it was a wait and see thing. I was sent home a 3rd time with "a normal, healthy, baby boy". I couldn't stand the waiting, I felt like I was sitting on a fence about to fall, I knew which ever way I should fall I would be fine, but the suspense was too nerve racking, so we took him to see one of my mom's cousins who was near 80 years old and still quite sharp. She held him & right away told us he was affected. It was almost a relief, to hear someone else say it. I went home and called Dr. DeMyer and told him about our trip. He checked him again but didn't see enough to make him positive. I know he was hoping so hard for us, that this child would be normal, he wanted to wait until the last possible minute to make a diagnosis. The day he made the diagnosis I wanted to get up out of my chair, go over and hug him and say "don't worry Doc we'll be fine"!
My husband and his family have been very helpful and supportive with the boys. My family was use to this sort of thing, but his had never dealt with anything like this before. He has a very large family and they have always included our children in everything, birthday parties, games, movies, coloring, watching TV, going to amusement parks, Easter egg hunts, haunted houses, etc. We have done everything with our sons that other families do, vacations, holidays, fishing, camping, snowball fights, attended weddings, funerals, sporting events,etc., etc..
We have been fortunate to live in a state with a major medical center, that has been very interested in this rare disease. The Dr's here have been studying two large PMD families since the early 1960's, one of those families is mine. In 1984, the Dr's at the Indiana University Medical Center's Medical and Molecular Genetics Department began the research that found the mutation for our family. Until then, we (the girls in my family) were all taught that we might have a little boy, like aunt so and so, or cousin such in such, or in some cases like your brother, or nephew.
About the time the Dr's were beginning the PLP research on my family, I met three other families, from other states, who also had sons who had been diagnosed with PMD. These families came to Indiana and met with our Dr's, at what was to become our first unofficial PMD Get-Together. They were amazed to find Dr's who had actually seen patients with this rare disease.
My family has always been their own support group. There was always someone who had, had a PMD child that we could call on, with a question, or for help solving a problem. Watching these new families with my family, I soon realized there was a need for some type of family support. In 1989 we started a PMD newsletter and in 1990 we held our first Annual Riley PMD Family Get-Together, it was an immediate success! In January 2003 we started a Internet support group as well. We have continued to add new families to our "family", which now numbers several hundred families in the US and around the world.
I think that families with PMD sons, have different needs than families affected by other leukodystrophies. Our children are this way from the time they are born and we learn to deal with these problems on a daily basis. While parents of children with other leukodystrophies, have a normal child that regresses to the state our children are in and then they continue to regress until death.
The United Leukodystrophy Foundation provides a conference for families, that is considered a respite for the families. PMD families don't feel that they need as much of a break from their children, because they don't have the daily reminder of the life that is quickly slipping away from them.
We work very hard to make the PMD conference here in Indiana, a fun, informative, family support weekend and encourage the families to bring their PMD son/sons and siblings. Grandmas, Grandpas, Aunts, Uncles, teachers and friends are welcome too! The conference is held annually in June.
Brantley & Georgie died just 16 days apart and Adam 16 years after them. So we know the need to continue on with life, a life that will never be the same, as significant pieces of the family puzzle are missing, but a different life, one that can still be full of hope and joy. I don't know how we survived all this, except by the grace of God. We never want to forget our sons and want to tell others about them, so that the memory of these special individuals will live on.
We are always encouraged to hear the families tell how much they get from these Get-Togethers. It makes us feel good that we can help others. Sharing our hope and experiences with other families, helps us to realize that all the years we spent dealing with our sons and this rare disease, were not wasted.
Thank you for reading our story.
Patti & George Daviau
They all had feeding difficulties. Georgie had feeding problems before we even left the hospital, which the nurse was quick to blame on me being a new mom. Their poor sucking, was probably due to a combination of things, such as low muscle tone, and a high palate (roof of the mouth). They would take about 2 ozs and be exhausted, fall asleep, wake in 2 hours, take 1 to 2 more ozs. They were able to handle solid foods much easier than liquids. They had a sort of fluctuating tone. Rather low tone at birth and in a few weeks some spasticity, yet still floppy. I remember Dr's saying how strong Georgie was.
As I look back, I think what dummies, but I hadn't told them about this problem. I was young and was living in my own little world. I had a healthy brother, I took good care of myself during my pregnancy, life was going to be just peachy!! Little house, white picket fence, our first child, a boy, the first grandbaby on both sides. Surprise!
I kept listening to the reassurances of the Dr's and others as he failed to gain head control & gain weight properly. It wasn't until one of my Mom's cousins, who had, had 2 affected sons, came to visit and I overheard her and my Mom, commenting on all the things I was concerned about, that I began to put things together. It was like a light went on. By then the Dr was getting concerned. I wasn't as educated then as I am now, I didn't even know what this disease was called. We just referred to it as "one of those boys" and everyone knew someone in the family who had or had, had an affected son.
We were very fortunate that the Pediatric Resident who was working with us, had just finished a rotation at Riley Children's Hospital, with Dr. William DeMyer, who was the expert on PMD and arranged for us to see him. Over the years, Dr. DeMyer became not only our children's Dr, but a friend as well. He passed away in 2009, but before his death he had passed the PMD responsibilities over to Dr. Larry Walsh, who has continued to provide the same care and attention to the PMD patients and their families as his Mentor.
When we got the diagnosis of PMD, I knew what it meant. I had seen it many times before, but we never had an official name for it. My husband was somewhat prepared, my Aunt had made it very clear to him one day, that if he married me and we had children, we could have a child like her son, in those days that's how things worked!! Our boys never developed any real physical and/or self help skills. Tracking was always poor, they could track an object, but not across midline. Georgie was in glasses for a while when he started school, not sure how much they helped with vision, but they did seem to help with focusing. Adam was in glasses for a while, when he was about 9 to 15 months old, to correct his crossed eyes, it did help and we had no surgery. Years later, Adam wore glasses and they seemed to help. He was very content to wear them and when asked if he wanted them on he would usually "answer" yes.
Once we got past the initial colicky stage, they transformed into social butterflies. They all had that infectious smile, the flirtatious twinkle in their eyes and a sense of humor that bordered on the warped side!! There was a period where they could do some hand to mouth, with a teething biscuit, suckers with loop handles and mini candy canes. They did not reach, but if something was placed in that clinched little fist they could move it around. Their hand movements were athetoid like. They loved to knock things over. Head control was almost non-exsistant. When placed on their stomach, they would raise their head quickly and then slam it into the floor. They could scoot on their back, with a sidewinder type of movement. They could not bear weight, sit or talk.
Although they didn't talk, they managed to communicate with those around them, those who took time to "listen". They seemed to understand words and concepts and communicated by smiles, facial expressions and some small throaty vocalizations.
They all had "spells" that were diagnosed as seizures, although they were never documented by EEG's, as such, but they did respond to anticonvulsant medications. Georgie started having these "spells" around 3 to 4 months, we did all the tests and they showed no seizure activity. One day, my Uncle (husband of my Mother's Sister) was around, they had, had a PMD son and he immediately said, "this baby is having seizures". That was all I needed to hear, I went back to my Dr. and insisted they put him on some medication. He had a period where he probably have these spells 20 out of 24 hours in a day. We just got to the point where we would put him in bed between us, so he wouldn't get his arms or legs stuck in the rails of the crib and that's how we slept, if you could call that sleeping!
With Adam we went through the same tests, same results, but we didn't wait as long to get on medication. And Brantley had the advantage of having two older brothers, and wiser parents, first sign of the "spells", I marched into the Dr's office, without an appointment and made it clear what medication I wanted! He was very supportive, he didn't agree with me completely about the type of medication, but we reached a happy medium.
We always knew we wanted to have other children and knew the chances of having a second son with PMD, but in my family no one who had ever had more than one child had only PMD sons, if their first child was a PMD boy, their next child was a daughter or a healthy son, so we knew it was possible to have healthy children. When Georgie was about 2 yrs. old we decided we were ready to think about another child, after weighing all the pro's & con's, but this time we knew for sure I was a carrier, that we had a 50/50 chance of having another PMD son. At that time there were no tests to determine prenatally if the child would be affected or not. Adam was born on our 4th wedding anniversary. Dr. DeMyer came & saw him right away, everything seemed ok, but there were no tests to prove or disprove the diagnosis at that time. I noticed some head tremors in the hospital, but the nurse was very quick to reassure me that, that was something many babies do. When we came home I noticed some eye shaking when I would get up with him, when my husband would get up with him he wouldn't see anything, but in time it was obvious, he was diagnosed at about 6 weeks old.
We had almost decided we were not going to have any more children & were using birth control faithfully. But God decided differently! When I had Brantley, I was awake through the delivery so I saw him right away, I just knew he was affected, it was just one of those feelings I couldn't shake. Dr. DeMyer had supported our decision to make a more permanent choice about birth control and encouraged my doctor to do the surgery, at delivery, since I was having my 3rd C-section.
Dr. DeMyer came right away to check him out, but again there were no tests to prove or disprove the diagnosis, so it was a wait and see thing. I was sent home a 3rd time with "a normal, healthy, baby boy". I couldn't stand the waiting, I felt like I was sitting on a fence about to fall, I knew which ever way I should fall I would be fine, but the suspense was too nerve racking, so we took him to see one of my mom's cousins who was near 80 years old and still quite sharp. She held him & right away told us he was affected. It was almost a relief, to hear someone else say it. I went home and called Dr. DeMyer and told him about our trip. He checked him again but didn't see enough to make him positive. I know he was hoping so hard for us, that this child would be normal, he wanted to wait until the last possible minute to make a diagnosis. The day he made the diagnosis I wanted to get up out of my chair, go over and hug him and say "don't worry Doc we'll be fine"!
My husband and his family have been very helpful and supportive with the boys. My family was use to this sort of thing, but his had never dealt with anything like this before. He has a very large family and they have always included our children in everything, birthday parties, games, movies, coloring, watching TV, going to amusement parks, Easter egg hunts, haunted houses, etc. We have done everything with our sons that other families do, vacations, holidays, fishing, camping, snowball fights, attended weddings, funerals, sporting events,etc., etc..
We have been fortunate to live in a state with a major medical center, that has been very interested in this rare disease. The Dr's here have been studying two large PMD families since the early 1960's, one of those families is mine. In 1984, the Dr's at the Indiana University Medical Center's Medical and Molecular Genetics Department began the research that found the mutation for our family. Until then, we (the girls in my family) were all taught that we might have a little boy, like aunt so and so, or cousin such in such, or in some cases like your brother, or nephew.
About the time the Dr's were beginning the PLP research on my family, I met three other families, from other states, who also had sons who had been diagnosed with PMD. These families came to Indiana and met with our Dr's, at what was to become our first unofficial PMD Get-Together. They were amazed to find Dr's who had actually seen patients with this rare disease.
My family has always been their own support group. There was always someone who had, had a PMD child that we could call on, with a question, or for help solving a problem. Watching these new families with my family, I soon realized there was a need for some type of family support. In 1989 we started a PMD newsletter and in 1990 we held our first Annual Riley PMD Family Get-Together, it was an immediate success! In January 2003 we started a Internet support group as well. We have continued to add new families to our "family", which now numbers several hundred families in the US and around the world.
I think that families with PMD sons, have different needs than families affected by other leukodystrophies. Our children are this way from the time they are born and we learn to deal with these problems on a daily basis. While parents of children with other leukodystrophies, have a normal child that regresses to the state our children are in and then they continue to regress until death.
The United Leukodystrophy Foundation provides a conference for families, that is considered a respite for the families. PMD families don't feel that they need as much of a break from their children, because they don't have the daily reminder of the life that is quickly slipping away from them.
We work very hard to make the PMD conference here in Indiana, a fun, informative, family support weekend and encourage the families to bring their PMD son/sons and siblings. Grandmas, Grandpas, Aunts, Uncles, teachers and friends are welcome too! The conference is held annually in June.
Brantley & Georgie died just 16 days apart and Adam 16 years after them. So we know the need to continue on with life, a life that will never be the same, as significant pieces of the family puzzle are missing, but a different life, one that can still be full of hope and joy. I don't know how we survived all this, except by the grace of God. We never want to forget our sons and want to tell others about them, so that the memory of these special individuals will live on.
We are always encouraged to hear the families tell how much they get from these Get-Togethers. It makes us feel good that we can help others. Sharing our hope and experiences with other families, helps us to realize that all the years we spent dealing with our sons and this rare disease, were not wasted.
Thank you for reading our story.
Patti & George Daviau
