Overview:
After my sons 5th birthday party we came home to play with all his new toys. That night he started complaining of a headache and said his legs felt sleepy, I treated the headache with Tylenol and we went to bed. The next morning he woke up completely paralyzed from neck down (c3) we are almost 2 years out with some recovery, this diseases is rare and there is only 2 doctors that really treats it.
Symptoms:
Legs feeling sleepy, headache, legs tingling, lose of bowl, and urine retention they can hit all the sudden or over a course of weeks or months.
Testing/Diagnosis:
Mri, spinal tap
Treatment:
High dose steroids, IVIg infusion, plasma pherisis
Resources:
John Hopkins TMA association and Kennedy Kriger institute in Baltimore
Contributed by MOM Anna Martin
Monday, February 25, 2013
Monday, February 18, 2013
Hirschsprungs Disease
Overview:
HD is a rare intestinal disease where the walls of the intestines are missing the proper nerve cells, which causes the intestines not to have movement. My daughter is about of the 10% in which this disease effects the entire colon.
Symptoms:
No bowel movements, major constipation, vomit/green vial.
Testing/Diagnosis:
Biopsy.
Treatment:
Surgery for an ileostomy at 1 month old, surgery at a year old to reverse the ileostomy, remove the large intestines, and pull the small through to the rectum.
Resources:
N/a
Contributed by MOM Ceaton Busch - check out Elynn's Facebook page for more.
HD is a rare intestinal disease where the walls of the intestines are missing the proper nerve cells, which causes the intestines not to have movement. My daughter is about of the 10% in which this disease effects the entire colon.
Symptoms:
No bowel movements, major constipation, vomit/green vial.
Testing/Diagnosis:
Biopsy.
Treatment:
Surgery for an ileostomy at 1 month old, surgery at a year old to reverse the ileostomy, remove the large intestines, and pull the small through to the rectum.
Resources:
N/a
Contributed by MOM Ceaton Busch - check out Elynn's Facebook page for more.
Monday, February 11, 2013
Moebius Syndrome
Overview:
Moebius syndrome is a rare neurological disorder that is present at birth. It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally. Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th. There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present. Approximately 30% of children with Moebius syndrome are on the autism spectrum.
Symptoms:
Lack of facial expression; inability to smile Feeding, swallowing and choking problems Keeping head back to swallow Eye sensitivity due to inability to squint Motor delays due to upper body weakness Absence of lateral eye movement Absence of blinking Strabismus (crossed eyes) Drooling High palate Short or deformed tongue Limited movement of tongue Submucous cleft palate Dental problems Hearing impairment Articulation / speech disorders Minor mid-line anomalies Club feet Hand/feet deformities
Testing/Diagnosis:
Clinical diagnosis. There is currently no genetic test for Moebius.
Treatment:
Infants sometimes require special bottles (i.e. Special Needs or Pigeon Feeder) or feeding tubes to maintain sufficient nutrition. Strabismus (crossed eyes) is usually correctible with surgery. Children with Moebius syndrome usually benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating, as well as occupational and sensory integration therapies. Limb and jaw deformities may often be improved through surgery. In addition, plastic reconstructive surgery of the face can offer benefits in individual cases. In that surgery, nerve and muscle transfers to the corners of the mouth have been performed to provide an ability to smile.
Resources:
http://www.moebiussyndrome.com
http://www.manyfacesofmoebiussyndrome.com
Personal Story:
Contributed by MOM Jennifer Akers
Moebius syndrome is a rare neurological disorder that is present at birth. It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally. Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th. There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present. Approximately 30% of children with Moebius syndrome are on the autism spectrum.
Symptoms:
Lack of facial expression; inability to smile Feeding, swallowing and choking problems Keeping head back to swallow Eye sensitivity due to inability to squint Motor delays due to upper body weakness Absence of lateral eye movement Absence of blinking Strabismus (crossed eyes) Drooling High palate Short or deformed tongue Limited movement of tongue Submucous cleft palate Dental problems Hearing impairment Articulation / speech disorders Minor mid-line anomalies Club feet Hand/feet deformities
Testing/Diagnosis:
Clinical diagnosis. There is currently no genetic test for Moebius.
Treatment:
Infants sometimes require special bottles (i.e. Special Needs or Pigeon Feeder) or feeding tubes to maintain sufficient nutrition. Strabismus (crossed eyes) is usually correctible with surgery. Children with Moebius syndrome usually benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating, as well as occupational and sensory integration therapies. Limb and jaw deformities may often be improved through surgery. In addition, plastic reconstructive surgery of the face can offer benefits in individual cases. In that surgery, nerve and muscle transfers to the corners of the mouth have been performed to provide an ability to smile.
Resources:
http://www.moebiussyndrome.com
http://www.manyfacesofmoebiussyndrome.com
Personal Story:
Contributed by MOM Jennifer Akers
Monday, February 4, 2013
Foxg1 Gene Disorder on 14q12 gene (Congenital Variant Rett Syndrome)
Overview:
FOXG1 is a severe neurological condition characterized by seizures, small head size, inability to control body movements, and lack of speech. The majority of our children cannot walk or talk. They cannot feed themselves and they struggle to communicate their most basic needs.
Symptoms:
Testing/Diagnosis:
Testing is available through a blood test
Treatment:
None
Resources:
Foxg1.com
International Foxg1 Foundation page on Facebook
Story:
I'm Heather, Vice President of IFF and here's my story!
On February 15, 2004 my husband, Greg, and I welcomed our beautiful baby boy, Jacob into the world. He was five weeks early and spent two weeks in the NICU. We knew when we brought him home there would be some delays; however they never really resolved. At six months old Jacob's Pediatrician ordered an MRI. We then discovered that he was missing brain tissue, and would have mental and physical disabilities for the rest of his life. He cannot talk, walk, feed himself, is legally blind, has seizures and a small brain, asthma, severe reflux, and global developmental delay. He functions at about an 8-12 month level and is almost 9 years old. However, Jacob is the happiest kid in the world~ his giggle is pure, unadulterated joy.
Needless to say, it was a bit of a shock. We began to see Neurologists, Ophthalmologists, Gastroenterologists, Orthopedists, and also had Speech, Vision, Physical and Occupational Therapists coming into our house several times a week. While trying to get our feet back under us and learning how to deal with all this, at 18 months old Jacob began to have seizures- his first one was 3 hours long. It was quite probably the most terrifying moment of our lives. We were so helpless- we didn't know if Jacob was going to make it- and if he did, would he be different? Thus began the first of Jacob's many hospital stays, and yet another road-less-traveled for us. After about a year of trial and error on different meds, we finally found a med cocktail that controlled the seizures for the most part.
Things were hectic for awhile, but stable. Jacob started pre-school in 2007 and finally began sleeping through the night (woohoo!!). We then had our baby girl, Anna in 2008 who is an amazing gift-although she does make us want to pull our hair out at times!
In 2009, when we finally made the decision to have a feeding tube placed because of oral motor issues and medication side effects causing decreased appetite, leading to a diagnosis of failure to thrive. It made a huge difference in Jacob’s and our lives, all for the better. In 2010, we were truly blessed to have Jacob approved for a Make-a-Wish trip based on his life-threatening seizures. The four of us plus an aide went to Disney- it was the most magical experience of our lives!
Throughout this whole process, Jacob continued to struggle with seizures. We never knew when they would come, how severe they would be, and whether or not the emergency meds would work. More often than not we had to call 911 as the meds became less and less effective. We eventually learned to live with the "always waiting for the other shoe to drop" sensation, and tried to live our lives as typically as possible. Finally, in August of 2012 we decided, along with Jacob's Neurologist, to have a Vagal Nerve Stimulator implanted for seizure control. It's basically like a pacemaker for the brain, and every five minutes it turns on, sending a 30 second pulse to the brain in an attempt to break up any potential seizure activity. As a result, Jacob's seizures have definitely reduced in frequency and severity. For the first time in almost eight years, the Neurologist has begun lowering one of the three seizure meds, and between that and the implant, we are seeing some increased cognitive function. For the first time, Jacob has begun to talk. He has just started responding with the sound "ay" when his friends and family say "Hi Jacob!" It is the most amazing sound in the world!
The reason I tell you all this is because while all this was going on, we were still searching for a diagnosis. We had been told previous to having our daughter that Jacob has some kind of genetic disorder, although no one could figure it out. We continued testing as the years went on, until one day we got a call- Jacob has Foxg1 Gene Disorder. We poured the internet for more information no avail- we had a name, but the genetic mutation was only just discovered and no signs, symptoms and treatments were available. Our secretary, Stefanie, started a group on Facebook, and the rest, as they say, is history! Over the past year, we have found 34 other children diagnosed with Foxg1 in the world, but there is still very little information available.
We decided to do something about that. This year, myself and 5 other Foxg1 moms formed the International Foxg1 Foundation. Our Mission is to provide support to families with an individual diagnosed with Foxg1; to educate the medical community and public about this disorder; and to provide funding to the three Neurogeneticists who have formed a team and study Foxg1 in the hopes of someday discovering treatments and a cure.
Greg and I are truly blessed to have Jacob and Anna. They have taught us how to life in the moment, to appreciate the small things and to truly see what is important in life. We are one of the many faces of Foxg1, and we can’t to see what the future holds!
Contributed by MOM Heather Norwood
FOXG1 is a severe neurological condition characterized by seizures, small head size, inability to control body movements, and lack of speech. The majority of our children cannot walk or talk. They cannot feed themselves and they struggle to communicate their most basic needs.
Symptoms:
- Inconsolable crying within the first year of life
- Partial or complete agenesis of the corpus callosum
- Developmental Delay
- Teeth grinding
- Enlarged ventricles in the brain
- Irregular involuntary muscle movements
- Microcephaly
- Seizures
- Spontaneous laughter
- Cortical Visual Impairment
- Strabismus
- Higher pain tolerance
- Higher susceptibility to illness
- Constipation
- High and low muscle tone
- Regression -very rare
- Swallowing issues
- Sleep disturbances
- Nonverbal or minimal word approximations
- Reflux
- Temperature issues
- Low tolerance of heat
- Flushing
- Exceptional love of water and music
- Hand washing motions
- Small hands and feet
- High palates
Testing/Diagnosis:
Testing is available through a blood test
Treatment:
None
Resources:
Foxg1.com
International Foxg1 Foundation page on Facebook
Story:
I'm Heather, Vice President of IFF and here's my story!On February 15, 2004 my husband, Greg, and I welcomed our beautiful baby boy, Jacob into the world. He was five weeks early and spent two weeks in the NICU. We knew when we brought him home there would be some delays; however they never really resolved. At six months old Jacob's Pediatrician ordered an MRI. We then discovered that he was missing brain tissue, and would have mental and physical disabilities for the rest of his life. He cannot talk, walk, feed himself, is legally blind, has seizures and a small brain, asthma, severe reflux, and global developmental delay. He functions at about an 8-12 month level and is almost 9 years old. However, Jacob is the happiest kid in the world~ his giggle is pure, unadulterated joy.
Needless to say, it was a bit of a shock. We began to see Neurologists, Ophthalmologists, Gastroenterologists, Orthopedists, and also had Speech, Vision, Physical and Occupational Therapists coming into our house several times a week. While trying to get our feet back under us and learning how to deal with all this, at 18 months old Jacob began to have seizures- his first one was 3 hours long. It was quite probably the most terrifying moment of our lives. We were so helpless- we didn't know if Jacob was going to make it- and if he did, would he be different? Thus began the first of Jacob's many hospital stays, and yet another road-less-traveled for us. After about a year of trial and error on different meds, we finally found a med cocktail that controlled the seizures for the most part.
Things were hectic for awhile, but stable. Jacob started pre-school in 2007 and finally began sleeping through the night (woohoo!!). We then had our baby girl, Anna in 2008 who is an amazing gift-although she does make us want to pull our hair out at times!
In 2009, when we finally made the decision to have a feeding tube placed because of oral motor issues and medication side effects causing decreased appetite, leading to a diagnosis of failure to thrive. It made a huge difference in Jacob’s and our lives, all for the better. In 2010, we were truly blessed to have Jacob approved for a Make-a-Wish trip based on his life-threatening seizures. The four of us plus an aide went to Disney- it was the most magical experience of our lives!
Throughout this whole process, Jacob continued to struggle with seizures. We never knew when they would come, how severe they would be, and whether or not the emergency meds would work. More often than not we had to call 911 as the meds became less and less effective. We eventually learned to live with the "always waiting for the other shoe to drop" sensation, and tried to live our lives as typically as possible. Finally, in August of 2012 we decided, along with Jacob's Neurologist, to have a Vagal Nerve Stimulator implanted for seizure control. It's basically like a pacemaker for the brain, and every five minutes it turns on, sending a 30 second pulse to the brain in an attempt to break up any potential seizure activity. As a result, Jacob's seizures have definitely reduced in frequency and severity. For the first time in almost eight years, the Neurologist has begun lowering one of the three seizure meds, and between that and the implant, we are seeing some increased cognitive function. For the first time, Jacob has begun to talk. He has just started responding with the sound "ay" when his friends and family say "Hi Jacob!" It is the most amazing sound in the world!
The reason I tell you all this is because while all this was going on, we were still searching for a diagnosis. We had been told previous to having our daughter that Jacob has some kind of genetic disorder, although no one could figure it out. We continued testing as the years went on, until one day we got a call- Jacob has Foxg1 Gene Disorder. We poured the internet for more information no avail- we had a name, but the genetic mutation was only just discovered and no signs, symptoms and treatments were available. Our secretary, Stefanie, started a group on Facebook, and the rest, as they say, is history! Over the past year, we have found 34 other children diagnosed with Foxg1 in the world, but there is still very little information available.
We decided to do something about that. This year, myself and 5 other Foxg1 moms formed the International Foxg1 Foundation. Our Mission is to provide support to families with an individual diagnosed with Foxg1; to educate the medical community and public about this disorder; and to provide funding to the three Neurogeneticists who have formed a team and study Foxg1 in the hopes of someday discovering treatments and a cure.
Greg and I are truly blessed to have Jacob and Anna. They have taught us how to life in the moment, to appreciate the small things and to truly see what is important in life. We are one of the many faces of Foxg1, and we can’t to see what the future holds!
Contributed by MOM Heather Norwood
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