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.

Seventy to ninety percent of children with this condition also have too much fluid on their brains, Hydrocephalus. Children and young adults with Spina Bifida can have mental and social problems. They also can have problems with walking and getting around or going to the bathroom, latex allergy, obesity, skin breakdown, gastrointestinal disorders, learning disabilities, depression, tendonitis and sexual issues. Many also have symptoms associated with Spina Bifida due to a Chiari Malformation Type 2 in the brain. The Chiari Malformation can cause problems with breathing and eating.

Testing for Spina Bifida is done during pregnancy through a blood test. If indicators from the test show an increased risk, follow up and confirmation of the diagnosis is often done through an ultrasound.

A child with Meningomyelocele usually is operated on within two to three days of birth. This prevents infections and helps save the spinal cord from more damage. Most children will also require surgery to install a VP shunt in the brain to allow drainage of the excess cerebral spinal fluid.

Spina Bifida Association

Personal Story:

Our daughter, Victoria, was born in July 2013 with a disabling condition, Spina Bifida. When she was born she had a hole in the lower section of her spine which damaged the nerves leading to the lower half of her body. She has limited movement in her feet and legs, and a condition called neurogenic bowels/ bladder. She requires urinary catheters throughout the day to prevent permanent damage to her bladder and kidneys.

Victoria also has hydrocephalus, which means she has too much fluid in her brain and spine. She had surgery to install a VP shunt when she was only three days old, and multiple revisions since, which drains the excess fluid from her brain into her abdomen and prevents further brain damage.

In addition, Victoria has what is called an Arnold Chiari Malformation Type 2 in the back section of her brain. The Chiari is where a part of the brain is pulled down from the skull into the spinal cord, and it damaged nerves in the brain, particularly those associated with breathing, swallowing, vocal cords, gag reflex, and the muscles around her trachea. As a result of this Chiari malformation, Victoria was born with tracheomalacia (floppy airway), bilateral paralyzed vocal cords, central apnea, and she had no swallow/ gag reflex. Because of her apnea, Victoria had a tracheostomy and has been on a ventilator since she was born.

A few weeks after her tracheostomy, she had a G-tube surgery along with a Nissen/ Fundoplication which allows us to feed her through a tube inserted directly into her stomach.

To relieve the pressure in Victoria’s brain stem, Neurosurgeon’s at CHLA performed a decompression surgery to remove a section of her skull and the back section of her top vertebrae. This procedure has allowed her to improve her breathing, her right vocal cord is no longer paralyzed, and she has regained some swallow and gag reflex, although they are still very weak.

Shortly after the G-tube surgery, Victoria started to show new symptoms that she had never exhibited before. She began to have high blood pressures and very low blood sugars. She was diagnosed as hypertensive and several months later diagnosed as having congenital hyperinsulinemia/ hypoglycemia.

The endocrinology team at CHLA started her on a drug combination to regulate her blood sugars, and placed her on a continuous 24/7 feeding pump. After just a week of this treatment it became obvious that Victoria was not tolerating this treatment, and we decided to reverse course with the drug treatment. It was soon after discovered that her condition was misdiagnosed and that she had developed Dumping Syndrome as a result of the Nissen surgery. It is a complication that can happen when the vagal nerve gets damaged during the surgery.

Over all, Victoria spent the first 5.5 months of her life in the NICU at both UCLA and CHLA hospitals, during which time she had 10 surgeries and multiple code blue scares. She finally came home in January of 2014, and requires 24/7 care to keep her stable, healthy and happy. She has nursing care at home through out the night and part of the day, as well as the loving care of her mom, dad, and grandma.

She has had a few set backs and scares since her homecoming; however, she has overcome more than most people would ever have to face, and she has done it with joy and love. She is a shining light to all who meet her, whether it be in person or on the internet. She truly is VICTORIOUS over all the challenges life has given her.

Contributed by MOM Leah Broyles
For more information click HERE

Monday, September 15, 2014

22q11.2 Deletion Syndrome

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.

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

FISH test

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

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”

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.

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. 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.

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.
















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 (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


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

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

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

Tristan’s had 17 surgeries.

<a href="">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

Monday, April 28, 2014

Hydrocephalus, Arthrogryposis, Chronic lung disease

Hydrocephalus is a buildup of fluid inside the skull that leads to brain swelling. Hydrocephalus means ”water on the brain.”

Symptoms of the diagnosis- this is not specific to your child.

Hydrocephalus thru MRI, Catscans, ultrasounds
Arthrogryposis is presented at birth

Hydrocephalus has no cure only treatment is brain surgery for a shunt.
Arthrogryposis treatment is castings, braces and surgery

Hydro Angels over America
Shriners Hospital

Personal Story:
I want to share an amazing little girl who battles everyday to be here with GODS Grace.
Janyia’s battle started before birth, at 13 weeks along utero. She was cut off oxygen for 29 minutes due to a surgery that had to be done to save my life. They had discovered Janyia would of been a twin but the other baby ruptured my tube causing internal bleeding. Right before they took my back I remember the pain and not being able to breathe. My life, family, unborn child flashed in front of my eyes and I looked at my grandmother and said I’m going to die, she then said to me GOD was with me. I had took my last breathe and everything went away, no more pain, I seen the gates of heaven. Drs didn’t expect me to survive let alone Janyia. I had 2 surgeries, spent 1 week in ICU and 2 more on a regular floor. I was cut open from breast bone to pelvic bone. Drs and nurses would keep telling me I would loose Janyia anytime. One night in the hospital it came to me Janyia was the reason I survived and I knew I was hers. Were eachothers guardian angels. At my 20 week ultrasound we discovered she had no use/movement waistdown caused by Arthrogryposis. 36 week ultrasound showed fluid on her left venterical on her brain and again I was scheduled Csection at 38 weeks. Drs prepared me with everything that has happened and now she wouldn’t survive birth. Janyia was born March 12, 2013. She spent almost 4 weeks in NICU having her first surgery at 2 weeks for a feeding tube. Janyia has reflux, aspiration and no motion. Her legs were bent in and up with clubbed feet. She went to ia city every Monday for 12 weeks of casting to get them out. She has been admitted several times for different reasons. August 2 she had surgery on her brain to place a shunt. August 4 back to surgery for a revise. She spent a month admitted due to weight loss and vomiting and was switiched to a gj tube.she is on a 20 hr continuious feed. She had surgery Dec 12 for ear tubes and adnoids removed. January 2014 she had a close call I took her in due to her heartrate 260s plus. She was on a ventilatior due to RSV. Janyia has seizures and sleep apena. She requires meds, breathing treatments and oxygen. She has a home nurse and ither PT/OT and early acces everyday. She has tons of appointments to see all her specialists. Janyia is a true miracle and proof GOD is amazing. Janyia will never walk and has very limited head and trunk support. She endures so much and smiles. Thank you Lord, he has amazing plan for Janyia

Contributed by MOM Janyia Miracle

For more information click HERE

Monday, April 21, 2014

Q21.1 Micro Duplacation

this is a chromosome disorder that can vary in symptoms


  • Relatively large head

  • Increased possibility of mild or moderate developmental delay

  • Increased possibility of autism or autistic-like behaviour

  • Slightly unusual facial features

  • Heart problem

  • Seizures

  • Increased risk for other inborn anomalies

this is done by a blood test called fish

you can only treat the symptoms

unique and are two places to look

Personal Story:
well my 8 yr old got tested at five and he was presenting with ADHD,sight problems with eye turning,hearing loss,lots of lung issues,sleep apnea,asthma,low muscle tone,seizures,malrotation,narrowed trachea,he may need cpap in the future hernia,hydro seal ,tonsils and adenoids have been taken out and my three year old is going through all of this to


Contributed by MOM aimee

For more information click HERE

Monday, April 14, 2014

Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Pyruvate Dehydrogenase Complex Deficiency results from the deficiency of one or more of the pyruvate complex enzymes. In short, the body can no longer effectively metabolize carbohydrates and as a result the body’s ability to produce enough energy to run it’s systems is interrupted.

The severity of symptoms vary widely from person to person but often include:

  • Low muscle tone

  • Irregular eye movements

  • Seizures

  • Poor head control

  • Lack of energy

  • Developmental Delays

  • Complications of normal childhood illnesses

  • High lactate

  • Acidosis

PDCD is normally diagnosed via muscle or skin biopsy. Genetic (DNA) testing is also sometimes recommended because occasionally, a single biopsy won’t show the deficiency.

Currently there is no cure for PDCD however the Ketogenic diet has improved the quality of life of many patients. Vitamin B1 is also recommended.

You can find our support group on Facebook if you search PDCD Parents and Friends.

More information on PDCD:
Genetics Home Reference
United Mitochondrial Disease Foundation

Personal Story:
gavinMy husband, two sons and I welcomed our third son, Gavin, into our family in late summer of 2009. At first, Gavin seemed as healthy as our other two children although he was a little smaller. Within two weeks however, Gavin was rushed to the hospital by ambulance because he was having a hard time breathing. I had no idea the road we were in store for.

Upon arriving at the hospital Gavin was discovered to be acidotic (too much acid in the blood). After some further tests and observation Gavin was transported to Nationwide Children’s in Columbus with suspicion that he had a metabolic disorder. There, we met our metabolic team of Geneticists, Nurses and a Dietician who would later become like an extended family to us during our stays at the hospital.

It took a few months for the tests to come back but it was confirmed that Gavin suffered from a very rare metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency (PDCD). PDCD is a genetic, neurodegenerative disorder which interrupts the body from correctly metabolizing carbohydrates. There is no cure for this disorder but in some cases it can be managed with the Ketogenic (high fat, low carb) Diet.

At the time Gavin was diagnosed, he had mild motor delays which was pretty good considering that the disorder can affect boys pretty severely. In fact, many boys don’t live for more than a few years. Our doctors however, were optimistic and hopeful because Gavin was presenting fairly well and some tests had come back indicating that Gavin was mosaic, meaning some cells in Gavin’s body were functioning perfectly fine. We were still given an emergency letter with instructions for any doctor that may be treating Gavin. We were also told when to take him to the hospital and were warned that the slightest childhood illnesses could become life threatening very quickly.

We learned how quickly the following month. Gavin was sick with a fever and was breathing a little faster. We took him to the ER and gave them the ER letter, all the time thinking he didn’t look any sicker than any other baby with a fever. Within an hour of arriving at the hospital, Gavin suffered from respiratory failure. He had to be intubated and flown to Nationwide where he was treated and released a week later. To make matters worse the same thing happened again two weeks later. At that point, we realized how fragile our seemingly normal child was.

Through all of this, Gavin recovered just fine and he continued to develop at a regular pace slightly behind his peers. However, in the summer of 2010, just when Gavin was starting to sit up on his own and roll to go where he wanted, he suffered a major setback. He once again became acidotic but this time when Gavin woke up, something was different. He was really floppy and wasn’t responding like he normally did. An MRI later confirmed that he had suffered some injuries to different areas of his brain. Gavin slowly came around. He started smiling and cooing again but he continued to have difficulty with seemingly simple motor skills, like holding up his head. This was a hard time for all of us but it was a turning point as well. We began to learn to appreciate what Gavin could do instead of focusing on what he couldn’t. Each smile became priceless and each new skill was something to truly celebrate.

In the months that followed, Gavin continued to recover, slowly regaining some motor control. What loomed around the corner continued to haunt us, although we tried our best to focus on the present. Cold and flu season soon caught up to us though and Gavin became feverish once again. This time, Gavin did well with the fever but his respiratory infection caused complications. Due to his hypotonia (low muscle tone), he couldn’t cough well enough to clear his secretions and developed pneumonia. He needed breathing support and we went along with the Doctors’ advice and made arrangements for Gavin to have a tracheostomy. Soon afterward Gavin was back to his happy self, smiling upon seeing people he recognized and loving games like peek a boo. About a month after his surgery Gavin came home and life and we began to develop our new normal. Today, Gavin enjoys reading books and watching his brothers play. He’s an avid lover of Nick Jr. and attends preschool with his nurse a couple times a week.

What a road this has been so far! Less traveled, and not the one we expected to take, but I can say that I’ve learned alot! I’d be lying if I said that I wouldn’t change a thing but I am grateful for what I’ve learned to appreciate and I’m thankful for the people we’ve met. I’m not sure where our road will take us but I know that as a family we can handle the things that life throws our way and we’ll cherish everyday we have together.

Contributed by MOM Michelle King