Esophageal Atresia/Tracheo-Esophageal Fistula (EA/TEF)

Overview
EA/TEF stands for Esophageal Atresia/Tracheo-Esophageal Fistula. It is a rare congenital birth defect which affects approximately 1 in 4,000 babies. With EA/TEF, a baby is unable to swallow, and may also have trouble breathing. Esophageal atresia (ea) is a birth defect in which the esophagus, which connects the mouth to the stomach, is shortened and closed off (dead ended) at some point along its length. Esophageal Atresia almost always occurs in conjunction with tracheoesophageal fistula (tef), a condition in which the esophagus is improperly attached to the trachea, the "windpipe" that carries air into the lungs. It is believed that these defects occur around the fourth week of pregnancy when the digestive tract is forming. There is no known cause for the defects. 

Failure of an unborn child (fetus) to develop properly can result in birth defects. These defects typically involve organs whose function is either incidental or not necessary at all before birth, meaning that the defects will not be detected until the baby is born. The digestive tract is unnecessary for fetal growth, since all nutrition comes from the mother through the placenta and umbilical cord. During fetal development, the esophagus and trachea arise from the same original tissue, forming into two side-by-side passageways, the esophagus leading from the throat to the stomach and digestive tract, and the trachea leading from the larynx to the lungs and respiratory system. Normally, the two tubes form separately (differentiate); however, in the case of ea/tef, they do not differentiate, which results in various malformed configurations. There are five configurations:

• Type A (7.7% of cases): Esophageal atresia in which both segments of the esophagus end in blind pouches. Neither segment is attached to the trachea.

• Type B (0.8%): Esophageal atresia with tracheoesophageal fistula in which the upper segment of the esophagus forms a fistula to the trachea. The lower segment of the esophagus ends in a blind pouch. This condition is very rare.

• Type C (86.5%): Esophageal atresia with tracheoesophageal fistula, in which the upper segment of the esophagus ends in a blind pouch (EA) and the lower segment of the esophagus is attached to the trachea (TEF).

• Type D (0.7%): Esophageal atresia with tracheoesophageal fistula, in which both segments of the esophagus are attached to the trachea. This is the rarest form of EA/TEF.

• Type E (also called Type H) (4.2%): Tracheoesophageal fistula in which there is no esophageal atresia because the esophagus is continuous to the stomach. Fistula is present between the esophagus and the trachea.

Normally, the esophagus moves food from the mouth to the stomach. When the esophagus ends in a pouch instead of emptying into the stomach, food, liquids, and saliva cannot pass through. The combination of ea with tef compromises digestion, nutrition, and respiration (breathing), creating a life-threatening condition that requires immediate medical attention. All babies with ea/tef require surgical repair to correct the condition and allow proper nutrition and swallowing.

Symptoms
The cause of esophageal atresia, like that of most birth defects, is unknown. An infant born with ea/tef may initially appear to swallow normally. However, the first signs of ea/tef may be the presence of tiny, white, frothy bubbles of mucus in the infant’s mouth and sometimes in the nose as well. When these bubbles are suctioned away, they reappear. This symptom occurs when the blind pouch begins to fill with mucus and saliva that would normally pass through the esophagus into the stomach. Instead these secretions back up into the mouth and nasal area, causing the baby to drool excessively. Although the infant may swallow normally, a rattling sound may be heard in the chest along with coughing and choking, especially when the infant tries to drink. Some infants, depending on the severity of the defect, may appear blue (cyanosis), a sign of insufficient oxygen in the circulatory system. The infant’s abdomen may be swollen and firm (distended) because the abnormal trachea allows air to build up in the stomach, filling the abdominal space that holds the surrounding organs. Aspiration pneumonia, an infection of the respiratory system caused by inhalation of the contents of the digestive tract, may also develop.

Diagnosis
When a physician suspects esophageal atresia after being presented with the typical symptoms, diagnosis usually begins with gently passing a catheter through the nose and into the esophagus. Esophageal atresia is indicated if the catheter stops at the blind pouch, indicating that it has hit an obstruction. If EA is present, the catheter will typically stop at 4 to 5 inches (10–12 cm) from the nostrils. Barium-enhanced x-ray examination may reveal a dilated esophageal pouch, made larger by the collection of amniotic fluid in the pouch.

During fetal development, the enlarged esophagus may also have pressed on and narrowed the trachea, a condition in the fetus that can contribute to fistula development. Air in the stomach may confirm the presence of fistula; gas in the large intestine rules out intestinal (duodenal) atresia. The physician will also perform a comprehensive physical examination, looking for other congenital anomalies that are known to accompany EA/TEF. Chest x rays may be taken to look for skeletal and cardiac abnormalities. Abdominal x rays may be taken as well to look for intestinal obstruction and abnormalities. An echocardiogram (ECG) may be performed to evaluate heart function and ultrasound of the kidneys performed to evaluate kidney function.

Treatments
Infants with ea, with or without tef, are unlikely to survive without surgery to reconnect the esophagus. The procedure is done as soon as possible; however, prematurity, the presence of other birth defects, or complications of aspiration pneumonia may delay surgery. Once diagnosed, the baby may be fed intravenously until surgery is performed. Mucus and saliva will also be continuously removed via a catheter. Healthy infants who have no complications, such as heart or lung problems or other types of intestinal malformations, can usually have surgery within the first 24 hours of life. Surgery techniques used to treat the five types of ea/tef defects are similar.

Surgery is conducted while the infant is under general anesthesia; a tube is placed through the mouth to continuously suction the esophageal pouch during the procedure. An intravenous line (IV tubing into the veins) is established to allow fluids to be administered as needed during surgery. Usually, the infant is placed on a ventilator, with a tube placed down the airway for at least the length of the surgery.

Typically, the surgeon makes an incision in the right chest wall between the ribs, allowing access to the esophagus and the trachea for repair of one or both as needed. If the gap between the two portions of the esophagus is short, the surgeon may join both ends of the esophagus (anastomosis). If the upper portion of the esophagus is short and a long gap exists between upper and lower portions, reconstructive surgery cannot be performed, and the infant must receive nutrition in some way to allow several months of growth. In this case, a gastrostomy (stomach tube) may be surgically placed directly into the stomach for feeding. In the most typical ea/tef repair, the fistula is first closed off, creating a separate airway. Then the blind esophageal pouch is opened and connected with suturing (stitching) to the other portion of the esophagus, creating a normal “food pipe” directly into the stomach. The esophagus is separated from the trachea if necessary.

If the two ends of the esophagus are too far apart to be reattached, surgury is put off to wait for growth of esophageal tissue, sometimes accompanied by stretching procedures. Surgery to connect the two ends of the esophagus can happen within three to four months of life. Or tissue from the large intestine is used to breech the gap between the two ends.

If an infant is unable to nurse normally before surgery can be performed, nutrition is provided intravenously (parenteral) or directly through a tube into the stomach (gastronomy). After the surgery, infants should be able to swallow normally and resume nursing or feeding. However, a feeding tube (g-tube) may stay in place for months or years, depending on the child’s nutritional needs.

Surgery to correct esophageal atresia is usually successful, with survival rates close to 100 percent in otherwise healthy infants after the condition is corrected. Postoperative complications may include difficulty swallowing, since the esophagus may not contract efficiently, strictures (scar tissue build up) at the surgery site, and gastrointestinal reflux, in which the acidic contents of stomach back up into the lower part of the esophagus, possibly causing ulcers.

Despite a difficult beginning for infants with esophageal atresia with or without tef, parents can be reassured that the defect can usually be corrected with surgery, allowing normal digestion, nutrition, and breathing to take place in their child. Concerns about complications are well founded, including increased susceptibility to colds and infections, as well as the presence of chronic conditions. Ongoing medical care helps manage these conditions and maintain good health in children who have had ea/tef. Parents can seek advice about strengthening the child’s immune system through appropriate nutrition and supplements.

Resources
www.eatef.org

Support Groups:
EA/TEF Family Support Connection, http://www.facebook.com/eatef.org?ref=tsBridging the Gap of EA/TEF: US, http://www.facebook.com/pages/Bridging-the-Gap-of-Eatef-US/134886699886413

Krew's Story
Our little miracle, Krew, was born on December 10, 2008. Everything about my labor and delivery was perfect. My water broke in the early morning and 12 hours later we got to meet him for the first time. He was a beautiful baby weighing 7 lbs 1 oz and 21 inches long. He was perfect! About an hour after he was born I started feeding him for the first time. After a few minutes, he let out a really loud squeal and started turning blue. Our nurse came in and took him from us so she could figure out what was wrong. After what seemed like an eternity had passed by, our pediatrician came knocking on the door and told us he had some bad news. He then told us our precious little baby was born with a rare birth defect called Esophageal Atresia and Tracheo-Esophageal Fistula. He explained what it meant and told us Life Flight was going to take him to  Primary Children's Medical Center which was about an hour and a half away where he would undergo a major surgery. We were devastated. It just didn't seem fair to have complete strangers take our new baby away from us. We had to learn quickly that we needed to rely on our faith and keep positive attitudes to make the situation easier. 

My amazing doctor released me the next day so we could go be with our baby for his surgery. He had his repair done at 2 days old. His surgeon was Dr. Rebecka Meyers and she did an amazing job. He was in the NICU for 3 weeks. He had good days and he had bad and scary days. But he was a fighter and he surprised all of us by how fast he recovered. 

He has always had acid reflux which is very common with this birth defect. He has always been on Prevacid to keep it under control but it was still pretty bad when he was younger. Acid reflux along with scar tissue can cause strictures at the repair site. Unfortunately, we didn't know he had a stricture until it was almost closed off and he began choking on his pureed food and milk. This occurred when he was about 7 months old. After a barium swallow study, his Dr. decided he would have to have more surgeries to help stretch it back open. Krew had to have 15 dilations by the time he was  2 1/2 years old. He would choke on food almost daily. He will eventually have to have more dilations, but at the moment he is doing great! He just got accepted into early preschool to help with some speech and social delays. He has some problems with sensory processing and has shown some red flags for Autism. He has made some really good progress and we are just taking things one day at a time. He is a happy and fun little guy and is the light of our life! He has taught us so many things already and we are so proud of him and the brave boy he is! He is our SUPERHERO!!!

 Contributed by MOM Ashley Perkes

MECP2 Duplication Syndrome

Overview

MECP2 Duplication Syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.

Symptoms

Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. 

Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.

Testing/Diagnosis

If above symptoms are present, blood work is collected and diagnosis made if duplication is present on the MECP2 gene.

Treatments

Treatment of this condition is symptomatic and supportive. Affected individuals require routine management of hypotonia, feeding difficulties, infections, developmental and speech delays, spasticity, and seizures. They may also benefit from physical therapy to maintain range of motion and reduce the likelihood of contractures as they age. The progression of the disease can be assessed by routine monitoring for progressive spasticity and loss of language skills.

Resources

mecp2duplication.com

en.wikipedia.org/wiki/MECP2

www.mecp2duplication.com/pb/wp_ba3c2af3/​wp_ba3c2af3.html

www.mecp2foundation.org

www.ncbi.nlm.nih.gov/pmc/articles/​PMC2861792

John's Story

John J. Holzapfel Jr. was born on November 15,1988 and was a healthy baby as far as we knew. He was sick at the age of 2 mos., and at 4 mos., he had not reached any milestones at all.

John took his first steps alone, when he was 7 years old! For the first seven years of his life, he was diagnosed (wrongly) with several different disorders. Autism, Cerebral Palsy, developmentally delayed, and anything else they could use since he was a mystery to all. John was plagued with seizures, several life threatening infections, and many hospital stays. He has a g-tube, in place for last 22 years, an ileostomy, several bouts with pneumonia, and sinus infections as well as Sepsis too many times.

He had several different genetics doctors submit testing for diagnoses they THOUGHT he might have. It wasn't until 2005/early 2006 that a doctor at Children's Hospital of Pittsburgh thought he met criteria for MECP2 duplication syndrome. The blood work was collected, sent to Baylor Medical Center and came back positive for the syndrome. Then I was tested, and found that I was indeed a carrier. Sad day.

Throughout John's 23 years here on earth, he has taught us so many things. Patience and unconditional love are high on our list. I don't know what the future holds for him. The one thing I do know is this: I will not stop fighting and looking for ways to find a cure for this horrific syndrome. I want to raise awareness of this new syndrome so that the world knows and we can help the 120 or so males that have been diagnosed this far.

Contributed by MOM Helen (and dad Mike) Murray

Childhood Glaucoma

Overview

Glaucoma is the abnormal elevation of eye pressure that results in optic nerve damage that leads to vision loss.  Childhood Glaucoma developes in 1 out of 10,000 children. Glaucoma occurs when the fluid in the eye's drainage is impeded by abnormal development or injury to the porous drainage tissues. Childhood glaucoma may be of primary genetic origin or occur secondary to other pediatric eye diseases. A wide variety of systemic diseases may cause childhood glaucoma and must be considered in children with glaucoma.Childhood glaucoma may be of primary genetic origin or occur secondary to other pediatric eye diseases. A wide variety of systemic diseases may cause childhood glaucoma and must be considered in children with glaucoma.

Symptoms
The significance of signs of elevated eye pressure may not be obvious. Parents should look for these symptoms:

• Cloudy, enlarged corneas
• One eye larger than the other
• Light sensitivity
• Excessive tearing without discharge

When these warning signs of glaucoma are present, a prompt examination for your child by your pediatrician, family physician or pediatric eye doctor is indicated.

Testing/Diagnosis
Knowing the warning signs is so important as most pediatricians are not trained to detect this disease in infants and children.   Most young children show symptoms if you know the warning sign to look for.  An eye examination that measures the eye pressure is how the diagnosis is confirmed.  If there is a family history or a systemic disease known to be associated with childhood glaucoma early exams will be very important.

Treatments:  Treatment of the gluacoma is most sucessful with an early diagnosis.  Both surgery and drugs are used in the treatment of Childhood Glaucoma. 

Resources
www.childrensglaucomafoundation.org Children's Glaucoma Foundation 
http://www.glaucoma-foundation.org/ Glaucoma Foundation

Christopher's Story

Christopher is our littlest miracle who was brought to us on Thanksgiving Day 2001. He was a good baby who hardly ever cried.  But on the morning of April 4th 2002, he was unusually fussy and hardly nursed. We left the house and went to a kick box class where he started screaming. I thought that it was because he was hungry (I later learned it was because of the bright lights in the studio) so I brought him home and tried to nurse him again. While nursing, I noticed that his right eye was cloudy.

I had just been in the pediatrician’s office 3 days prior, so I called the office to inquire as to whether this was of concern. While waiting for them to call me back I went to the computer and did a search on “cloudy eyes”. What I found as a reason for “cloudy eyes” scared me. When the nurse from the office called back I was told that it was probably mucus, that I should “just have him blink his eye”. I am also a mother of now 16 year old premature twins, one of whom has had many other medical problems, so my instincts told me that it wasn’t “just mucus”.

I called the pediatric ophthalmologist in town that cared for my twins when they were born 7 weeks early. The staff brought me into the office that same afternoon. After a few hours and many tests later, my fears were confirmed; my baby was diagnosed with Infantile Glaucoma. He was only 4 months old.

I had never heard of Glaucoma in a baby, only in adults. Our wonderful pediatric ophthalmologist, Dr. Walter
Merriam recommended that we travel to another state to see a world-renowned expert in Infantile Glaucoma. Two days later, Christopher and I were on the road traveling the 6 hours to see Dr. David Walton. Since that day, Christopher and I have made that journey to Boston many times. He has had two goniotomies (surgery) in his right eye and one in his left eye and many eye drops.  He was having his eyes checked an average of about every other week after the surgeries.

We had tried to take him off the eye drops several times but the pressures went back up each time. We have now been off all drops for about 7 years and Christopher has been able to maintain good eye pressures.  For now we keep praying and continued to see Dr. W. Merriam every 6 months to check his pressures. If the pressures go back up he will need to return to the drops and most likely have another surgery. He will only be able to have the same surgery done on the right eye one more time before Dr. Walton will need to try a different type of surgery, one that is has more risks and is not as successful for children Christopher’s age.

Infantile Glaucoma has put our family on a roller coaster journey. I never know when I will have to pack up Christopher and leave my husband and two other children to travel to Boston. This disease requires that families have patience, perseverance and faith. My husband and son’s, Alex and Ryan, have done just that! With the patience and faith of my family and the wonderful care from Dr. David Walton and Dr. Walter Merriam, Christopher still has his eyesight! We are working hard together to keep it this way.

Christopher is now a healthy, happy, very active 10 year old!  He is a great educator about Childhood Glaucoma and a strong advocate for himself when it comes to what he needs.  He has been doing  fundraising, selling childhood glaucoma wrist bands for about a year to raise money to go towards research to help find a cure. I'm so proud of him! 

I feel that this story is so important to share with other parents because it could mean the difference between a child being able to see or not. Glaucoma is a leading cause of childhood blindness that affects 1 in 10,000 children. Most pediatricians are not aware of the signs of childhood glaucoma (extreme fussiness, due to discomfort caused by elevated pressure; very large, prominent eyes; excessive tearing; tilting of the head in bright light; closing of eyes in bright light; cloudy corneas; and one eye larger than the other) and therefore it may be missed. Christopher had several of these early signs, which were discussed with the pediatrician a few days prior to diagnosis. Early detection is the best way to prevent damage to the optic nerve, which is what causes blindness. I truly believe that parents are their child’s best advocates and that if they have the knowledge we may help to save a child’s precious vision.

I am also advocating that newborn vision screening be done for Glaucoma and more pediatricians be educated about Infantile Glaucoma. Please share this information with your pediatrician.  This is vital to preventing vision loss in children. I have spoken to many parents across the states where their children were not diagnosed until much later than Christopher and have many problems due to optic nerve damage. 

January is Glaucoma Awareness Month.  Make this the month that you have your children's eye's checked!

Contributed by MOM Michelle Cuttler

Spinocerebellar Ataxia

Overview

Spinocerebellar Ataxia (degeneration)- SCA is a progressive neuro degenerative disease that are many types and each type is a disease in itself. SCA can happen to anyone at any age, the earlier the age of onset – the more rapidly the disease will progress. It is much like Huntington’s Disease and is often inherited. A part of the brain known as the cerebellum (the little brain) is shrinking (in atrophy) which is what is the main feature of this disease.

Symptoms

Ataxic gait, the child will fall often and not be able to move her arms to catch herself becoming seriously injured. Speech impairment – the child will have slurred speech and a stutter, sometimes they won’t use the right words and even have times where they’re not able to speak at all. There is usually deformity of the spine – a child can look like they have a hunch back. Spasms, movement disorders like dystonia and chorea and myoclonic seizures are very common. Also autonomic dysfunction – including marbling of the skin – dysautonomia – low blood pressure. There can be paralysis below the waist with the muscles of the thighs and calves temporarily paralyzed. As time passes, the disease will progress, the child will not be able to walk, talk, write, will be confined to a bed and breathing will become very difficult. A child cannot survive this disease as the cerebellar and spine degenerate (shrink.)

Treatment and Diagnosis

There is no known treatment– supportive care is all that is offered. . Diagnosis is very difficult as it can mimic many other diseases. Most often it’s mistaken as MS. Because a child can have intractable epilepsy, it can often be mistaken for a seizure syndrome. Sometimes it can take years to get diagnosed. Diagnosis usually is not made until the disease starts to progress and an MRI is done showing atrophy (shrinkage) of the cerebellar and spinal cord. There are 29 known types of SCAs that can be genetically tested for. Sadly, the largest group of people with this disease, genetic testing holds no answers. Diagnosis is often made from the MRI results and the clinical presentation of the disease.

Resources

The National Ataxia Foundation

http://www.ataxia.org/resources/publications.aspx

Amy's Story

My daughter Amy had a diagnosis of autism with seizures at an early age. She was considered high functioning autist. She was verbal and potty trained by age 3 and at age 5 she was in a normal classroom and doing well in school with an IQ of 96. Amy passed the state standardized testing for 1^st grade and was mainstreamed.

At age 7 years and 9 months we noticed that she seemed to be struggling and the school system repeated her testing and found her IQ was 86, the neurologist did another VEEG and determine Amy had Lennox Gastaut syndrome, a rare intractable seizure syndrome. Within the year Amy would be struggling to speak clearly, her words often stuttered. She’d fall all the time, the neurologist said it was akinetic seizures. Then her rectum prolapsed, she was found to have dysmotility of the intestines and GERD and malnourished, a g-tube was placed. Within a year we’d also have the Vegus nerve stimulator implanted to help control the seizures, but the falls were often. We also noticed her walk was changing, she was hunched over like a hunchback and her feet stomped. She couldn’t handle the stairs in our home any longer and often when standing up, she passes out. Then we noticed her eyes darting all the time, she couldn’t hold them still, nastagmus – and it was getting worse. She had developed movement disorders like dystonia which was crippling her and chorea, daily these massive jerks that come out of nowhere and some could knock her down while others paralyzed her.

All of Amy’s MRIs in the past had been normal so the neurologist could not explain what was happening to our child. We went to a major university hospital and they did an MRI and it showed atrophy of the cerebellum – a part of the brain known as the little brain. The testing for SCA began. That summer Amy had a seizure that lasted for hours, her body was then stuck in dystonic posturing for days, her vision was affected, it was devastating and a fight for her life with long term care in the hospital began.

That’s also when the psychiatric problems began, mania being a major problem and a devastating part of this disease. On Sept. 28, 2011 the team of doctors at Baylor College of Medicine diagnosed Amy with an unknown at that time SCA neuro-degenerative disease and a rare seizure syndrome. Amy’s IQ was found to be 54, she struggles to walk and to talk. She’s now in a special school where there is full time nurses on staff. She also is in physical therapy and speech therapy daily.

We know the disease will take our child in time, but we don’t dwell on that hard and painful reality. We focus on being a happy family every second we can and take many photos and videos. We also use those videos to chart the major changes happening in our little girl. We are her parents and can remember clearly watching her ride her bike with no problem, swim, jump rope and run to the mailbox. We remember her laughter and her being near normal doing what children are suppose to be doing. And to see this change, to watch her decline is heartbreaking. No parent should go through what we have! To be miss-diagnosed and we were many times! To be told it was status (unchanging) and Amy would hold her ground many times. To believe that this was going to be okay and told so by many doctors. Each doctor had a different diagnosis – from Alternating hemiplegia of childhood to a stroke to a seizure syndrome to it just being related to autism. It took a massive, major and devastating change in Amy’s MRI showing a major part of her brain was shrinking and her spinal cord before all the doctors would agree.

On Dec. 2^nd the Neurologist here at our local university (which is accepting people with ataxia into a research study) assured us our daughter will not survive. That it’s a matter of time and we need to live in the present and make the most of our time. It was hard to hear. BUT we needed to hear that from another doctor after all the misdiagnosis. No parents should go through what we have been through. But sadly with SCAs, our story is not unique. We cling to our faith for a miracle. Also, my mother died when I was young of what the doctors believed was MS, she carried the diagnosis of MS for 10 years as she declined, much like my child is. I watched my mother’s speech become slurred, her stumble down the hall, bouncing off the walls, crawling and finally in a wheelchair then a bed and she died when I was too young to lose my mother. I have watched my daughter follow almost the exact same path these last two years and four months.

My older brother has been having trouble and he had an MRI showing spine and cerebellar degeneration. All the doctors now agree that what took my mother as a young woman is now taking my child. Spinocerebellar degeneration – and I had never even heard of this disease.

Contributed by MOM Christy Bac- mother of Amy Bac 10 years old

http://rosecottageroad.blogspot.com/2011/11/we-add-more.html (Amy's full story)

Cerebrocostomandibular Syndrome

Overview

Cerebrocostomandibular Syndrome is an extremely rare inherited disorder characterized by an abnormally small jaw (micrognathia), malformations of the roof of the mouth (palate), improper positioning of the tongue (glossoptosis), and abnormal development of the ribs (rib dysplasia). There have been only between 60-75 cases diagnosed.  In most cases, such abnormalities contribute to respiratory problems (insufficiency) during early infancy. Although some affected individuals have normal intelligence, others exhibit moderate to severe cognitive delays. Although research suggests that cerebrocostomandibular syndrome is usually inherited as an autosomal recessive genetic trait, some cases have also been documented in the medical literature that suggest autosomal dominant inheritance.

Symptoms

Micrognathia, cleft hard palate, rib gap anomalies (gaps or missing).  Some children have hearing and vision problems.  Most cognitive delays are as a result of lack of oxygen due to respiratory distress.

Children with CCMS always have Pierre Robin's Sequence (small jaw, cleft palate).  What distinguishes CCMS from PRS is the rib gap anomaly.

Testing/Diagnosis

genetic testing with reports sent to large skeletal centers like Cedars Sinai in California

Treatments

Treat the symptoms, not the syndrome.  Cleft palates are repaired around 12 months.  Rib gaps can be left to calcify on their own, or additional bone grafts and rib implants can be done.  Tracheostomies are often necessary to ensure proper respiratory function. 

Resources

http://www.facebook.com/groups/183532715060740/#!/groups/182961948457273/ (online support group)

http://www.cleftline.org/publications/pierre_robin (info non Pierre Robin's Sequence) 

http://www.childrenshospital.org/cfapps/research/data_admin/Site2253/mainpageS2253P10.html (research study at Boston Children's) 

http://www.veptr.com/ (Titanium rib explanation and support group)

There is no specialist because the syndrome is so rare.

  

Abigail's story

We found out at 20 weeks that Abigail had a small jaw. After getting a level two sonogram done at University of Maryland Medical Center, she was diagnosed with micrognathia and Pierre Robin's Sequence. 

At 29 weeks, we went to our local hospital where I was found to be in preterm labor. I was flown by helicopter to UMMC, where my labor was stopped. Polyhydraminos (excess fluid caused by Abby's inability to swallow) was causing my body to constantly go into labor, so I was closely monitored at the hospital for the next month. During my stay, I had two amnioreductions where doctors took off a total of over two liters of fluid. 

 
I was sent home at 34 weeks to be on strict bed rest and continue to take the labor-preventing medicine. Two days later on October 21st, I went into active labor with Abby. Matt and I made it to the hospital just in time, because I was eight centimeters when I arrived! 

Shortly after midnight at 12:12 a.m. on October 22nd after a speedy delivery, Abby was born weighing 4 lbs and measuring 17 inches long. They took her immediately to begin working on her, but we were able to see her very briefly before they took her downstairs.

We went down to see her around 2 a.m., where we were told she had a rib deformity where her ribs are in multiple pieces. Later that morning, we met with the geneticist who gave us the difficult news of Abby's diagnosis: cerebrocostomandibular syndrome. It affects the brain, ribs, and jaw. This is an extremely rare syndrome that has only affected approximately 60 people ever. There are currently roughly 7 children alive today with the syndrome. 

No one really knew what was going to happen, and the doctors really didn't have much hope. We were told if she did survive, Abby wouldn't be much more than a vegetable.  She wouldn't be able to hear, see, or sit up on her own.  Abby spent the first five days of her life struggling to breath until she had an emergency tracheostomy on October 27th after a failed intubation. She had a g-tube placed on November 16th so that she could get the nutrition she needs without a tube in her nose.

The statistics say that Abby shouldn't have made it this far. In fact, she probably shouldn't have been born alive. Thankfully, Abby doesn't know that and is continuing to fight hard! As long as she is willing to fight, we will not be giving up on her either. There are so many people praying for us and we are so thankful for the love and support.

Abby moved from the NICU to a pediatric rehabilitation hospital on December 2nd and finally came home on January 18th. It was one of the happiest days of our lives and a huge answer to prayer!

Since we've been home, we have learned a ton about the "joys" of home nursing, medical red tape, federal health care, and anatomy! We have also had many many miracles occur in the life of our girl. For one, Abby's crooked and hunched spine are now completely straight! When one of the best pediatric spinal surgeons in the world gives you this news, you run with it! Abby's ribs are calcifying, and the gaps close to the sternum have closed up. This is allowing her rib cage to be much stronger and to work better than it was. Unless something changes, it does not appear that she will need to have rib surgery. At the present, Abby is only using the ventilator at night, and there are plans to kick the vent out once and for all!  My "vegetable" is now standing while holding onto something and scooting across the floor.  I have a feeling she'll be crawling before we know it! 

This has been quite a journey, but we are so thankful to God for giving Abby a fighting spirit. That spunkiness has helped her to make it this far and has been such an encouragement to us! We love our little girl unconditionally and will do anything we can to help her and support her development. 

We have been amazed again and again by God's grace and faithfulness to us. He has provided in ways we never could have imagined, and we know that He has chosen us to be Abby's parents. It is not our job to question why He gave her CCMS; our job is to love Abby and raise her to love God!

Contributed by MOM Julie Leach