Monday, September 15, 2014

22q11.2 Deletion Syndrome

Overview:
22qMissing 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.

Symptoms:
Growth, heart, kidney, spine, calcium, feeding, developmental, speech, immune issues. ETC.

Testing/Diagnosis:
FISH test

Treatment:
Needs care by a variety of specialists depending on the particular symptoms (cardiologist, immunologist, speech-language pathologist, feeding therapist, geneticist, ETC).

Resources:
Seattle Children’s Hospital, Children’s Hospital of Philadelphia, ETC.

Personal Story:
Tetralogy of Fallot (Congenital Heart Defect), Speech delay/articulation issues, Aspiration of regular liquids (on thickened feeds), Tooth decay.

Contributed by MOM Alycia
For more information click here

Monday, September 8, 2014

Congenital Talipes Equinovarus (CTEV) commonly known as ”Clubfoot”

Overview:
brooklynn
Clubfoot is a relatively common birth defect, affecting 1/750 births worldwide. Clubfoot is an idiopathic condition, meaning the cause is unknown. Clubfoot, also called Congenital Talipes Equinovarus (CTEV), {C-congenital-present at birth, T-talipes-foot and ankle, E-equino-foot pointing down, V-varus-heel turning inward} is a congenital deformity involving one foot or both. Muscles, ligaments, bones and joints are affected in the developing foot and ankle. The affected foot appears to have been rotated internally at the ankle. In babies with Clubfoot, the tissues connecting the muscles to the bones are shorter than usual causing the foot to be twisted. Clubfoot affects the tendons and ligaments in not only the foot, but the calf and calf muscle as well. The ankle can be twisted at a sharp angle making the foot resemble a golf club, hence the name. The severity of Clubfoot can range from mild to severe.
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.
All Clubfoot cases are not of the same severity. A Pediatric Orthopaedic Surgeon will determine the most appropriate treatment for a child. Babies suspected of having Clubfoot are referred after their newborn exam to a Pediatric Orthopaedic Surgeon. Typically, infants are seen within the first few weeks of birth and treatment will begin. Clubfoot is not painful to infants. Although parents are concerned with treatment, children are resilient. With treatment, the vast majority of patients recover completely during early childhood and are able to walk, participate in athletics, and are capable of living a normal, active life.
According to the American Academy of Orthopaedic Surgeons (AAOS), the Ponseti method, which uses manipulation and casting, is the most frequently used method in the U.S. to treat clubfoot.

Symptoms:
Muscles, ligaments, bones and joints are affected in the developing foot and ankle. The affected foot appears to have been rotated internally at the ankle. In babies with Clubfoot, the tissues connecting the muscles to the bones are shorter than usual causing the foot to be twisted. Clubfoot affects the tendons and ligaments in not only the foot, but the calf and calf muscle as well. The ankle can be twisted at a sharp angle making the foot resemble a golf club, hence the name. The severity of Clubfoot can range from mild to severe.

Testing/Diagnosis:
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.
All Clubfoot cases are not of the same severity. Babies suspected of having Clubfoot are referred after their newborn exam a Pediatric Orthopaedic Surgeon. Typically, infants are seen within the first few weeks of birth and treatment will begin.

Treatment:
Dr. Ignacio Ponseti (1914-2009), Professor of Orthopaedics at the University of Iowa, pioneered his method in the 1940’s. Dr. Ponseti found that there were negative long-term after effects as a result of surgery to fix Clubfoot. He studied the anatomy and function of the human foot and he started manipulating newborns with Clubfoot differently. The Ponseti Method of treating Clubfoot is minimally invasive and over 95% effective. The Ponseti method is the standard method to treat Clubfoot worldwide.

Treatment Overview: 5 Phases
Phase 1
Correction: Gentle manipulation to align the foot in a normal position with weekly (serial) casting to allow the soft bones to set. Here, the ligaments and tendons are gently stretched. The cast extends from groin to toe. This takes place within the first few weeks of the baby being born. Casting varies from approximately 4-8 weeks.

Phase 2
Minor Surgery: Percutaneous Achilles Lengthening, also referred to as a Tenotomy, is performed. The Achilles tendon is clipped to lengthen the heel. After surgery a cast is applied and worn for 4 weeks.

Phase 3
Prevention of Relapse: After correction, a brace is necessary to prevent relapse. Braces, also known as Boots and Bars, are worn 23 hours a day (“full-time bracing”) until your baby is about 9 months old.

Phase 4
Prevention of Relapse: With doctor approval, your child will wear the braces at night time and nap time (“part-time bracing”) until they are approximately 4 years old. It is suggested to wear the braces while the child is sleeping so the child can build muscle strength by moving during the daytime.

Phase 5
Surveillance: Your child will regularly visit your doctor to monitor progression of how the legs and feet are growing.

Resources:

  • clubfoot.co.za

  • clubfootclub.org

  • community.babycenter.com/groups/a52555/clubfoot_support

  • dobbsbrace.com

  • feetfirstworldwide.com

  • footnotefilm.com

  • globalclubfoot.org

  • groups.yahoo.com/neo/groups/nosurgery4clubfoot/info

  • mdorthopaedics.com

  • miraclefeet.org

  • ponseti.info

  • steps-charity.org.uk

  • talipestogether.com


 

Facebook Groups:

  • Adults/teens with clubfoot

  • Atypical/complex club foot

  • Aussie clubfoot kids

  • Born with clubfoot (talipes equinovarus)

  • CF families, north/north west Tasmania

  • Club feet

  • Club foot Australia & world wide

  • Club foot awareness (talipes/C.T.E.V.)

  • Clubfeet Arizona

  • Clubfeet; a place for educating and supporting

  • Clubfoot and talipes UK

  • Clubfoot Australia support

  • Clubfoot awareness initiative

  • Clubfoot babies in Ontario

  • Clubfoot closet

  • Clubfoot Colorado

  • *Clubfoot community of central California

  • Clubfoot is treatable

  • Clubfoot mommas

  • Clubfoot new Zealand

  • Clubfoot online

  • Clubfoot research forum

  • Clubfoot STEPS SA

  • Clubfoot support group

  • Clubfoot UK

  • Happy feet talipes new

  • Happy feet talipes selling page

  • Parents and friends of children with clubbed feet

  • Parents with children/adult with clubfeet

  • Parents/guardians of children with club feet/foot (talipes equinovarus)

  • Ponseti method for treatment of clubfoot

  • TALIPES

  • Talipes

  • Talipes (club foot)

  • Talipes NZ

  • Talipes support group (club foot)

  • Tassie clubfoot kids

  • Thank you, dr. dobbs-clubfoot support

  • The dr Ignacio ponseti appreciation society


 

Personal Story:
Here is the newspaper article featuring my daughter, Brooklynn and myself.  The article starts on page 1 BUT it is CONTINUED ON PAGE 3.

Contributed by MOM Jill Harold

For more information click HERE

Monday, September 1, 2014

Hydrocephalus

tristanOverview:
Tristan, our Treasure, is 11 years old. She has been diagnosed with a list of things.

Symptoms:
There are many different symptoms that Tristan has had as part of all her diagnosis’.

Testing/Diagnosis:
Born with Hydrocephalus, Chronic Asthma, Pulmonary Valve Stenosis, Heart Murmur, & some other things.

Treatment:
Tristan’s had 17 surgeries.

Resources:
<a href="http://www.hydroassoc.org/">Hydrocephalus Association</a>

Personal Story:
Tristan is truly a Miracle!! She is a Fighter & will Over Come these things thru Jesus Christ!

Contributed by MOM Stacey York
For more information click HERE