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mi-RARE-cles: Spina Bifida, Myelomeningocele

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Monday, November 10, 2014. Spina Bifida, Myelomeningocele. Bifida is the most common permanently disabling birth defect in the United States. Spina Bifida literally means “split spine.” Spina Bifida happens when a baby is in the womb and the spinal column does not close all of the way. Myelomeningocele is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. To relieve the pressure ...

mi-rare-cles.blogspot.com

mi-RARE-cles: Congenital Talipes Equinovarus (CTEV) commonly known as ”Clubfoot”

http://mi-rare-cles.blogspot.com/2014/09/congenital-talipes-equinovarus-ctev.html

Monday, September 8, 2014. Congenital Talipes Equinovarus (CTEV) commonly known as ”Clubfoot”. Clubfoot is diagnosed at birth, or in some instances, by prenatal ultrasound. It cannot be predicted or prevented. When Clubfoot is present in both feet it is called Bilateral Clubfoot. One affected foot is called Unilateral Clubfoot. Treatment Overview: 5 Phases. Correction: Gentle manipulation to align the foot in a normal position with weekly (serial) casting to allow the soft bones to set. Here, the lig...

mi-rare-cles.blogspot.com

mi-RARE-cles: 22q11.2 Deletion Syndrome

http://mi-rare-cles.blogspot.com/2014/09/22q112-deletion-syndrome.html

Monday, September 15, 2014. Missing part of Chromosome 22…can be a random genetic mutation…first in the family…or a person that has it has a 50% chance of passing it on to their children. Gives rise to a variety of symptoms, ranging in severity. Growth, heart, kidney, spine, calcium, feeding, developmental, speech, immune issues. ETC. Needs care by a variety of specialists depending on the particular symptoms (cardiologist, immunologist, speech-language pathologist, feeding therapist, geneticist, ETC).

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mi-RARE-cles: September 2013

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Monday, September 16, 2013. PCDH19 Female Limited Epilepsy (FLE). PCDH19 FLE causes severe drug-resistant epilepsy as well as a spectrum of developmental, intellectual, and behavioral problems in girls and women. PCDH19 FLE can occur de novo or can occur within families passed from women to their daughters or asymptomatic sons or from carrier fathers to daughters. PCDH19 FLE is diagnosed via genetic testing. A variety of mutations of PCDH19 (on the X chromosome) can cause the symptoms of PCDH19. Esmé and...

mi-rare-cles.blogspot.com

mi-RARE-cles: February 2014

http://mi-rare-cles.blogspot.com/2014_02_01_archive.html

Monday, February 24, 2014. Long arm : within the 15p15.33 band there is a deletion of 0.133 Mb followed by a duplication of 0.710 Mb followed by a deletion of 0.119 Mb. Short arm: duplication of 5q33.2q35.3. Congenital heart defect, growth failure, failure to thrive, low birth weight, low set of ears, small chin, small jaw, short neck, plagiocephaly, developmental delay in all area. Partial karyotype and FISH studies of both parents it is not inherited it is a de novo event. Contributed by MOM Daniella.

mi-rare-cles.blogspot.com

mi-RARE-cles: Developmentally Cognitively Delayed

http://mi-rare-cles.blogspot.com/2014/05/developmentally-cognitively-delayed.html

Monday, May 5, 2014. 9 years ago, my daughter Grace was born at 24 weeks. She was a micro-preemie. She had a tracheostomy,ventilator, oxygen, and feeing tube. Today, she is mechanically free, but does have DCD. She is in third grade, and is developmentally delayed for her age. Grace still has induced asthma at times, due to her respiratory colds. Grace learns differently at school in her special education classes. She has goals set through her IEP plan through the school district. Follow us on facebook.

mi-rare-cles.blogspot.com

mi-RARE-cles: September 2014

http://mi-rare-cles.blogspot.com/2014_09_01_archive.html

Monday, September 15, 2014. Missing part of Chromosome 22…can be a random genetic mutation…first in the family…or a person that has it has a 50% chance of passing it on to their children. Gives rise to a variety of symptoms, ranging in severity. Growth, heart, kidney, spine, calcium, feeding, developmental, speech, immune issues. ETC. Needs care by a variety of specialists depending on the particular symptoms (cardiologist, immunologist, speech-language pathologist, feeding therapist, geneticist, ETC).

mi-rare-cles.blogspot.com

mi-RARE-cles: November 2012

http://mi-rare-cles.blogspot.com/2012_11_01_archive.html

Monday, November 5, 2012. Chromosome 3p Deletion Syndrome. 3p deletion syndrome is a rare chromosome disorder characterized by the deletion of part of the short arm of chromosome 3 (3p). De Novo Interstitial Deletion on the short arm of chromosome 3 ( 3p.25.3p25.2). Rozy Kate is currently in therapy 6 sessions a week including pt/ot/and speech. She also currently takes medication to control absent, partial, and cluster seizures. Office of Rare Disease Reseach (ORDR). Upon returning to our regular pediatr...

mi-rare-cles.blogspot.com

mi-RARE-cles: March 2014

http://mi-rare-cles.blogspot.com/2014_03_01_archive.html

Monday, March 31, 2014. My daughter was born healthy and normal. She suffered a traumatic brain injury at 2 1/2 years old, we still do not know exactly what happened that day. She is now unable to speak, walk or even sit up on her own. She has partial paralysis on the entire right side of her body. She is diagnosed with Hemiparesis, a type of cerebral palsy, and epilepsy. Https:/ www.facebook.com/groups/ParentsofChildrenwithBrainInjuries/. Http:/ www.biausa.org/. Contributed by MOM Stephanie Bradford.