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Emma was born on April 27, 2006 two weeks before she was due. She weighed in at 9 lbs! Em has
been "quirky" since she was born. She did not cry when she was born although she perked up and
her Apgar scores were 8 and 9. She had a hard time learning to suck from her bottle but that soon
revolved. She was the most calm baby I had ever seen! We actually had to wake her up to eat
during the first few weeks. We figured she was just very content and because of her size we
weren't worried.
They tell you not to compare your children so it really didn't phase me that Em seemed slower to
get skills than her sister did who stood up and walked without crawling at 9 months. Emma didn't
seem to want to push up when on her belly and never rolled over until her Physical Therapy
evaluation at 9 months old. She was very hypotonic although at the time I didn't realize how
significant it was.
By her 1 year well child visit our Pediatrician suspected Em had a form of muscular dystrophy and
we were sent to our first neurologist at the Vermont Children's Hospital. He ran a gamut of tests all
of which proved to be normal and diagnosed her with Benign Congenital Hypotonia. He told us if
Em was not pulling to stand by 18 months we would investigate further.
Em did not pull to stand. Our neurologist then threw congenital myopathy and metabolic disorders
at us. She had a brain MRI in September 07' and Muscle Biopsy in October 07' both of which were
normal. So we went home to wait.
On New Years Eve 2007 we had yet another appointment with our neuro, who then threw out Tay
Sacs and Rett Syndrome at us along with neurotransmitter disease. Em had to undergo yet
another round of Blood tests as well as a spinal tap. The Tay Sacs and spinal tap came back
negative as did the Rett Syndrome test that was sent to Baylor. Em really seemed to be having jaw
issues. She was able to almost dislocate it several times a day and it seemed to cause a lot of
pain. She seemed to tug on her jaw often. Little did we know that was the hand mouthing that
would cause a different Neurologist at a different hospital to order a second Rett test 7 months
later. The Rett Syndrome test came back to us in late January with "No mutation detected".
In February 2008 Em got really sick. She had developed a high fever that seemed to resolve with
tylenol. When I got up the next morning Em was still sleeping which was out of the ordinary. It was
that morning she had a seizure. After rushing her to the ER, her pediatrician admitted her to the
ICU for observation. We thought it was a combination of the fever as well as hypoglycemia leading
to the seizure. It was then we asked to go the Children's Hospital in Boston.
After extensive metabolic and other neuromuscular testing and a 48 hour EEG we finally had an
abnormal result. Her EEG showed abnormal brain spikes. Her neurologist told us he wanted tests
for Prader Willi, Angelman Syndrome and Rett Syndrome. I knew in my heart it wasn't Prader Willi
or Angelman but there was something about Rett I couldn't shake... Even though she had not
shown a regression, her head circumference continued to grow, she continued to have words,
there were no screaming fits etc... She did continue hand mouthing. And that made me uneasy.
We got the results of the 2nd Rett Syndrome test on September 18, 2008 when Em was 29 months
old. She did indeed have a MECP2 mutation and therefore had Classic Rett Syndrome. Although I
had a rush of emotions it was from 18 months of not knowing what "IT" was. We were told we were
reaching the fringes of what was known medically and that is really scary. Now "IT" had a name
and it's name is Rett Syndrome. The relief it brought us really surprised me.
Em is a beautiful, always happy child with an amazing sense of humor. She adores her older sister
Sarah who she has called "Abba" from a very early age. She loves to play with Elmo and has the
most infectious giggle when Elmo does the chicken dance. She continues to surprise us with new
words. We have started Cuevas Medek Exercises in Toronto under an amazing therapist - Simona
DeMarchi, and the improvement in her motor skills has been amazing in just 1 month! Fine motor
skills continue to be difficult but they too are getting better. She is gaining skills she never had. But
things are still hard for her. Em is not crawling or walking but is weight bearing beautifully and with
more CME therapy we are anxious to see what she will do!
been "quirky" since she was born. She did not cry when she was born although she perked up and
her Apgar scores were 8 and 9. She had a hard time learning to suck from her bottle but that soon
revolved. She was the most calm baby I had ever seen! We actually had to wake her up to eat
during the first few weeks. We figured she was just very content and because of her size we
weren't worried.
They tell you not to compare your children so it really didn't phase me that Em seemed slower to
get skills than her sister did who stood up and walked without crawling at 9 months. Emma didn't
seem to want to push up when on her belly and never rolled over until her Physical Therapy
evaluation at 9 months old. She was very hypotonic although at the time I didn't realize how
significant it was.
By her 1 year well child visit our Pediatrician suspected Em had a form of muscular dystrophy and
we were sent to our first neurologist at the Vermont Children's Hospital. He ran a gamut of tests all
of which proved to be normal and diagnosed her with Benign Congenital Hypotonia. He told us if
Em was not pulling to stand by 18 months we would investigate further.
Em did not pull to stand. Our neurologist then threw congenital myopathy and metabolic disorders
at us. She had a brain MRI in September 07' and Muscle Biopsy in October 07' both of which were
normal. So we went home to wait.
On New Years Eve 2007 we had yet another appointment with our neuro, who then threw out Tay
Sacs and Rett Syndrome at us along with neurotransmitter disease. Em had to undergo yet
another round of Blood tests as well as a spinal tap. The Tay Sacs and spinal tap came back
negative as did the Rett Syndrome test that was sent to Baylor. Em really seemed to be having jaw
issues. She was able to almost dislocate it several times a day and it seemed to cause a lot of
pain. She seemed to tug on her jaw often. Little did we know that was the hand mouthing that
would cause a different Neurologist at a different hospital to order a second Rett test 7 months
later. The Rett Syndrome test came back to us in late January with "No mutation detected".
In February 2008 Em got really sick. She had developed a high fever that seemed to resolve with
tylenol. When I got up the next morning Em was still sleeping which was out of the ordinary. It was
that morning she had a seizure. After rushing her to the ER, her pediatrician admitted her to the
ICU for observation. We thought it was a combination of the fever as well as hypoglycemia leading
to the seizure. It was then we asked to go the Children's Hospital in Boston.
After extensive metabolic and other neuromuscular testing and a 48 hour EEG we finally had an
abnormal result. Her EEG showed abnormal brain spikes. Her neurologist told us he wanted tests
for Prader Willi, Angelman Syndrome and Rett Syndrome. I knew in my heart it wasn't Prader Willi
or Angelman but there was something about Rett I couldn't shake... Even though she had not
shown a regression, her head circumference continued to grow, she continued to have words,
there were no screaming fits etc... She did continue hand mouthing. And that made me uneasy.
We got the results of the 2nd Rett Syndrome test on September 18, 2008 when Em was 29 months
old. She did indeed have a MECP2 mutation and therefore had Classic Rett Syndrome. Although I
had a rush of emotions it was from 18 months of not knowing what "IT" was. We were told we were
reaching the fringes of what was known medically and that is really scary. Now "IT" had a name
and it's name is Rett Syndrome. The relief it brought us really surprised me.
Em is a beautiful, always happy child with an amazing sense of humor. She adores her older sister
Sarah who she has called "Abba" from a very early age. She loves to play with Elmo and has the
most infectious giggle when Elmo does the chicken dance. She continues to surprise us with new
words. We have started Cuevas Medek Exercises in Toronto under an amazing therapist - Simona
DeMarchi, and the improvement in her motor skills has been amazing in just 1 month! Fine motor
skills continue to be difficult but they too are getting better. She is gaining skills she never had. But
things are still hard for her. Em is not crawling or walking but is weight bearing beautifully and with
more CME therapy we are anxious to see what she will do!
This has been our Motto since this long journey began:
"Never let your head hang down. NEVER GIVE UP AND SIT DOWN AND GRIEVE. Find
another way." - Satchel Paige
We look forward to finding a cure for all of the beautiful girls afflicted with Rett Syndrome. We will
find it!
"Never let your head hang down. NEVER GIVE UP AND SIT DOWN AND GRIEVE. Find
another way." - Satchel Paige
We look forward to finding a cure for all of the beautiful girls afflicted with Rett Syndrome. We will
find it!
A special thanks to our donors:
Cynthia Hovland
Susan Stiles
Maria DeAngelo
Mary Peria
Amy Isabella
Mary Beth Scheidegger
Karen Harwood
Mary and Jeff Cheney
J J Rondeau-Nason
Heidi Pedersen
Carol Lamb
Sandra Denicolo
Terry Cook
Michael Sardella
Bill & Barb LaDuke
Jeanne Breen
Mary Peria
Heather Tuttle
Maureen Hoxie
Margaret Dalton
Lynn Newman
Amy Heckethorn-Jones
Patricia Rand
Diana Hill
Petrova Elementary School
Petrova Middle School
Scott and Karen Smith
Helen Tracy
Kathleen Hintenlang
Ellen and John Korz
Cynthia Hovland
Susan Stiles
Maria DeAngelo
Mary Peria
Amy Isabella
Mary Beth Scheidegger
Karen Harwood
Mary and Jeff Cheney
J J Rondeau-Nason
Heidi Pedersen
Carol Lamb
Sandra Denicolo
Terry Cook
Michael Sardella
Bill & Barb LaDuke
Jeanne Breen
Mary Peria
Heather Tuttle
Maureen Hoxie
Margaret Dalton
Lynn Newman
Amy Heckethorn-Jones
Patricia Rand
Diana Hill
Petrova Elementary School
Petrova Middle School
Scott and Karen Smith
Helen Tracy
Kathleen Hintenlang
Ellen and John Korz
Emma's mom Jen, is a member of our
Mother's Advisory Board.
Mother's Advisory Board.
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