MADISON'S HOPE
Raising awareness of DiGeorge Syndrome
PLEASE VISIT georgia-tennis.com FOR INFO ABOUT AN
UPCOMING FUND RAISER FOR MADISON TAYLOR-FAITH
RINGENBERG
A LOOK AT MADISON'S HISTORY
Madison Taylor-Faith Ringenberg was born 01-02-03 at 5lbs 12 oz and 18 inches long. At the first listen
to her chest the nurses took her to NICU because of a murmur. Several hours later they came to tell us
that our new daughter had 4 defects in her heart that would require open-heart surgery. As suggested we
took her home to grow, only she didn’t. At 3 weeks and now only 5lbs Madison suffered congestive heart
failure and was rushed to the Children’s hospital. After 5 days of “coding” Madison was taken to surgery in
a sink or swim situation. They fixed her 4 defects called Tetrology of Fallot and she started her recovery.
About this time we were made aware that she was void of a thymus gland (your immune system) and was
being tested for DiGeorge sequence. DiGeorge is an immune system dysfunction that comes with another
disorder called Velo-Cardio-Facial syndrome, which is recognized by a deletion in the 22 chromosome. It
only took 24 hours for it to be confirmed that she had this affliction.
On day 4 of recovery Madison ran a fever and was labeled as “severely septic” with both a lung and blood
infection. We were told that the 3 antibiotics were not helping and her lungs were too poor from being on
heart-lung by pass to help. Her lungs collapsed several times and her body swelled to maximum capacity
with infection. She was having blood and platelet infusion numerous times per day and soon even had
adverse reactions to that. She was in a medically induced coma, on the ventilator and taking maximum
dosage of narcotics for 3 months. At times even the ventilator couldn’t help and she was put on an
oscillator that pushed 300-350 tiny breaths into her lungs per minute! She wore earmuffs because it
sounded like a jackhammer.
One amazing morning Madison decided she had enough and she started to get better. Her blood and
lungs were taking longer to prove positive for infection and they were letting her wake up. Within 2 weeks
we were put on the “cardiac step down unit”. It was that first day that they decided to let her eat for the
first time in months. I fed her several ounces from a bottle and the rest went down an NG tube in her
nose. Within minutes Madison turned blue and wasn’t moving. She was resuscitated only to stop
breathing several more times. We went back to ICU after only ½ day.
Five days later she under went stomach & esophagus surgery to reconstruct the damage that the
ventilator did. It had blown her esophagus wide open and she was aspirating even her own saliva. Her
stomach was tied off so that nothing could come up and a G-tube was put into her tummy so that we could
feed her directly into her stomach with a feeding pump…a year later we are still feeding that way today.
We have been home for several months and have been diagnosed with numerous other problems.
Madison has a paralyzed soft palate that needs surgery. Her left eye wanders off because of a possible
stroke that she suffered somewhere along the way and needs surgery, and her pulmonary valve has a
40% leak that will need to be repaired very soon. She is down to 64% heart function. She remains on a
host of prescription drugs to keep her blood pressure down, her kidney stones controlled, to aid in
digestion, to keep fluid off her heart and help lung function. She still hasn’t eaten or drank anything by
mouth. Madison and Mom have spent 7 out of 12 months at Egleston Children’s hospital in 2003 and
started year 2004 there too. She is petite (not even on the growth chart) but has very few of the facial
characteristics of her illness. She goes to speech, physical, occupational therapy and special education
several times per week. We see about 5 specialists per week (and that’s if nothing is wrong) and keep
working toward our goals. Madison is a beautiful, bright and happy child and it is astounding that she is
still with us.
After the tournament, we are planning a trip to Children’s Healthcare of Philadelphia (CHOP) to meet with
at least 15 of the worlds top doctors that specialize in DiGeorge syndrome. CHOP is the home of Doctor
DiGeorge himself. We are hoping that some of Madison’s issues can be resolved, or at best better
managed by having her seen by doctors that handle over 600 DiGeorge children throughout the world.
This trip is our one and only resource to give Madison a better quality of life and hopefully a much longer
one.
What are the medical needs of children with the 22q11.2 deletion?
Once the diagnosis of a 22q11.2 deletion has been made, what should happen next? Since children with a
22q11.2 deletion may have problems in many different body systems, for example, heart, palate and
learning style, it makes sense that they should have a comprehensive evaluation of all areas which could
be affected. At The Children's Hospital of Philadelphia, we recommend that all patients with a 22q11.2
deletion have the following evaluations, at least once, to rule out any potential problem. (This list is
continuously changing as new findings are recognized amongst patients and is, therefore, not all inclusive.
Also note that some problems, such as speech delay, for example, are not obvious at birth and can only
be identified over time):
* Cardiology - if the child does not have a known cardiac defect, an evaluation with a cardiologist is
important, although the likelihood of finding a previously unrecognized problem is low. An evaluation may
include a chest x-ray, electrocardiogram (study of the electrical impulses of the heart), and an
echocardiogram (ultrasound of the heart).
* Child Development and Psychology - children with a 22q11.2 deletion may have a difference in learning
style requiring some extra help in school. In addition, young children may have delays in their
developmental milestones and might benefit from early intervention, such as physical, occupational, and
speech therapy. Therefore, it is important for patients with the deletion to have developmental testing on a
regular basis to determine if there is a problem, and to identify appropriate intervention when needed.
* Cleft palate team - all children with the 22q11.2 deletion should be seen by a plastic surgeon who
specializes in cleft palate and VPI (velopharyngeal incompetence). In addition, they should be seen by a
speech and language pathologist who can also assess speech, language, and feeding (in a young child).
Some centers have specialized computer methods of objectively measuring speech to decide if
intervention is necessary. Some teams also have growth specialists and dentists who monitor the growth of
the face, jaw, and teeth.
* Endocrinology - some children have problems with low calcium in the newborn period and require a
calcium supplement. This is often handled by the cardiologist or pediatrician. If the problem continues, an
endocrinologist (hormone doctor) may be asked to see the patient. In addition, some older patients with
the 22q11.2 deletion have problems with growth (short stature) and would benefit from an evaluation by an
endocrinologist since, in some cases, this is treatable.
* ENT and Audiology - children with a palatal problem often have trouble with ear infections and can
benefit from seeing an ear, nose and throat doctor (ENT). Since some patients with a 22q11.2 deletion
have hearing loss, a hearing test (audiogram) would often be beneficial. In addition, some children have
problems with 쮯isyreathing. These children in particular may benefit form an evaluation by an ENT. This
is often part of the cleft palate team evaluation.
* Feeding Specialist - patients with a 22q11.2 deletion often have feeding difficulties, usually in the
newborn period. These difficulties may be helped having an evaluation with a pediatrician who specializes
in feeding. This would only be recommended if a problem already existed.
* Genetics - the geneticist is the most likely person to have an overview of the diagnosis. This would
include keeping up to date with the new findings associated with the 22q11.2 deletion. Therefore, a yearly
evaluation with genetics is often beneficial in answering questions regarding the patientgeneral care,
recurrence risk, and the availability of prenatal diagnosis.
* Immunology - many newborns with the 22q11.2 deletion have problems with their immune systems and
therefore may have trouble with infections or trouble handling certain vaccines. Most children outgrow this
problem by their first birthday, but some patients continue to have some trouble into later childhood and
adulthood. We suggest that every patient be evaluated by the immunologist at least once.
* Neurologist - rarely, children with a 22q11.2 deletion have had symptoms such as a seizure disorder or
problems with balance which require the services of a neurologist. We suggest that an initial evaluation
with a neurologist may be helpful in some cases.
* Urology - some patients with the 22q11.2 deletion have problems with their kidneys, including a missing
kidney, which would be detected by a renal ultrasound. In addition, some children have difficulty with
urinary tract infections, bedwetting or urinary frequency, and would benefit from seeing a urologist who is a
specialist in this area.
* Other - some patients with the 22q11.2 deletion commonly have: constipation, leg pain, and differences
in the carotid arteries (blood vessels in the neck which lead to the brain). Other patients with the 22q11.2
deletion have problems which are seen fairly infrequently. These include: bony abnormalities such as extra
fingers, extra ribs, a missing bone of the forearm, and problems of the vertebrae (spine) which sometimes
leads to scoliosis (curvature of the spine), spina bifida, juvenile rheumatoid arthritis, eye problems,
premature fusion of the 쳯ft spotsr fontanels (craniosynostosis), and emotional or psychological
problems. Patients who have a problem in one of these areas are referred to the doctors who care for that
particular problem.