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Rebekah Faith Budd's Medical Summary

Our life changed drastically in December 2008 when our baby girl, Rebekah, was diagnosed through amniocentesis around 20 weeks gestation as having ‘full’ Trisomy 18.

Trisomy 18 (T18) or Edwards Syndrome is a genetic disorder caused by the presence of an extra 18th chromosome. The syndrome has a very low rate of survival, and babies with T-18 typically have complex medication problems resulting from heart abnormalities, brain defects, kidney malformations, spinal cord defects, and other internal organ disorders. Cleft lips and palates are also more common in babies with trisomy 18. They may have hand and foot anomalies. Babies with trisomy 18 may have difficulty regulating their breathing and temperature. T-18 babies typically have severe mental deficiencies and tend to grow/mature at an extremely slow pace. They may also be unable to feed properly and often require G-tubes. Neurological defects cause many problems with these children – the brain simply ‘forgets’ to tell the heart to beat or the lungs to breathe and seizures are not uncommon. The body often just ‘gives out’ after a period of growth and progress.

Because of the large number of potential medical problems, babies with trisomy 18 are usually considered “medically fragile” and the medical community likes to use the phrase "Incompatible With Life". About 95% die in utero. Of liveborn infants, only 50% live to 2 months, and only 5–10% will survive their first year of life. The median life span is five to fifteen days. One percent of children born with this syndrome live to age ten, typically in cases of the less severe mosaic Edwards syndrome. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child. Because major medical interventions are routinely withheld from these children, it is difficult to determine what the survival rate or prognosis would be with aggressive medical treatment.

Our Rebekah Faith was born at 38 weeks by induction on 4/21/09, weighed 4lb 6oz, and was 17” long. After 7 days in NICU to establish feeding, address jaundice, and assess her health, she came home with us on an apnea monitor and with a N/G tube for feeding. She weighed 4lb 1oz. An oxygen monitor was then added to the entourage of medical accessories. At the 2 week mark, she was 1 ounce past her birth weight and appears to be doing well overall except for several bouts of bradycardia (low heart rate), and apnea (stop breathing) during each day that requires physical stimulation to reverse. Those episodes got worse, and she was admitted to the PICU at 6 weeks old. At about 7 weeks, it was determined that she had severe obstructive apnea and the easiest and most effective treatment would be a tracheostomy. She got a trach and g-tube, and we haven't looked back since!

Every day with Rebekah is a blessing from God. In utero, she was diagnosed with a VSD hole in the heart, only one kidney was ever seen, brain abnormalities, and she has two rocker-bottom feet with one twisted to the side from malformation of the bone. Once she was born, it was verified that her VSD had closed in her heart, and a renal ultrasound showed TWO kidneys (she has a horseshoe kidney)! She actually fed exceptionally well by bottle, another exception to most T-18 kids. But once she was trached, she was unable to suck as strong as she needed to keep feeding exclusively by mouth.

Our children adore their baby sister and she brings much joy and love to our household. We thank God for this precious child and the path we are on with her. 

Rebekah Faith is 'Redefining Incompatible With Life' everyday!

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WLOS ABC 13 out of Asheville, NC did a Special Report on Rebekah and the Budd Zoo:

Rebekah Faith Budd's Medical Summary

Birthday:         4/21/2009
Diagnosis:        Trisomy 18 – Edwards Syndrome, Cerebral Palsy, ID (Intellectual Disability)
Surgeries:        6/2009 – Tracheostomy & Gastronomy Tube; 6/2011 – Emergency Surgery for Bowel Obstruction (Meckel Diverticulum that resulted in a long post-op elias).

Hospitalizations and Healthcare Plan Summary:
  •      Birth: hospitalized for 1 week in a level 2 nursery to establish feeding before coming home BOTTLE-FEEDING with ng-tube back-up feeding and on an apnea monitor, pulse ox monitor, and about ¼ liter oxygen to maintain good SATs.
  •      3 weeks old: hospitalized for 2 days for blue spells. Put on caffeine to help for suspected central apnea and acid reflux medication for suspected reflux which can also cause obstruction/apnea.
  •      4 weeks old: hospitalized for 1 month due to severe, life-threatening apnea and blue-spells that were requiring constant oxygen and stimulation to encourage breathing and reverse blue spells. After receiving a bronchoscopy, MRI, sleep study, and several other tests, the apnea was determined to be completely obstructive (a huge surprise to the entire medical team) and the hospitalization led to a tracheotomy and gastronomy tube surgery. At this time, Rebekah was fully eating by bottle. But most trached babies need a feeding tube because the open airway makes it harder to suck a bottle and much easier to aspirate. Rebekah was actually able to continue feeding by bottle after the tracheostomy, but it took longer and she was expending too many calories eating. We would feed by mouth, then finish up the necessary caloric intake via g-tube after 20-30 minutes of bottle-feeding. This allowed Rebekah to eat by mouth, but also gain weight and maintain a healthy growth pattern.
  •      4 months old and 6 months old: Rebekah had 2 more hospitalizations her first year for what appeared to be severe upper respiratory infections (URIs). Once at 4 months for about 1 week and at about 6 months for 4 days. Both “URIs” resulted in need for oxygen, very frequent suctioning, and increased sleep apnea episodes despite the trach. Upon further testing, both illnesses were actually severe urinary tract infections (UTIs) that did not display with traditional fevers, strong-smelling urine, etc, but with upper respiratory distress (mucous, chest-congestion, breathing issues, etc despite tests for all types of URIs resulting in NEGATIVE). This seems to be a fairly common occurrence with trisomy kids. Any sign of URI should always be followed up with a simple urine test for UTI.  The doctors may think you are crazy to test for this, but push for it!  During the 1 week stay, Rebekah was ordered not to feed by mouth due to increased risk of aspiration and infection due to what was thought to be an URI. Sadly, it is at this time she lost her suck reflex and was unable to continue feeding by bottle orally. We were grateful that she already had the g-tube!  These two UTIs resulted in Rebekah receiving a prophylactic daily dose of antibiotic.
  •      As soon as we get any evidence of illness (change in normal SATs and heart rate; change in temperature – which Rebekah rarely ever gets a fever, but her norm of 97 will go up to maybe 99; frequency of urination; frequency of bowel movement; frequency of urination; general malaise, etc), the first thing we do is have Rebekah cathed for a urine sample and check for UTI. By 6 months of age, we were so quick at knowing her norms and when things were just a little off, we would test for illnesses long before they were bad enough to end up in the hospital. Almost always, the illness was the beginning of a UTI and a course of antibiotics would reverse the symptoms within a day. 
  •      Following these 4 hospitalizations by the age of 6 months, Rebekah did not end up in the hospital (overnight) again until she was 25 months old and had a bowel obstruction due to an undetected Meckel’s Diverticulum, a congenital defect that also appears to be much more common with trisomy children than with the general population. Children with reoccurring bowel/stomach issues (from vomiting, slow stomach emptying, constipation/straining, and many other unexplained issues) should be checked for Meckel’s Diverticulum (MD) even if they display no typical symptoms from it. Rebekah never had any of the classic symptoms like bloody stools, yet MD caused life-threatening inflammation and obstruction that would have taken Rebekah’s life had exploratory emergency surgery not found the culprit. It took her body 3 weeks of post-op healing before her digestive system began to work again and she spent that month in the hospital on TPN feeds. After polling our trisomy community, we were amazed at the number of trisomy children that have had MD as well. Some were found and removed (before problems occurred) during laparoscopic surgery for gastronomy tube. Some children ended up with the same symptoms of bowel obstruction that Rebekah had. MD cannot be detected through x-rays, barium studies, etc. It is found only through a very specific nuclear study for MD (and through exploratory surgery).  
  •      BOTTOM LINE: If your child starts to vomit uncontrollably and the stomach becomes bloated, go to the hospital immediately because bowel obstruction comes on fast and is extremely life-threatening! If perforation of the intestines occur, peritonitis will set in, and this is extremely life-threatening in even a typical healthy patient.
  •      Rebekah received Synagis shots for the first 2 years to help prevent RSV. This is a fight with the insurance company as each shot, taken during flu season, costs thousands of dollars. However, pneumonia and RSV, along with heart problems and apneas, are the major contributors of death in trisomy 18/13 children. It is worth the fight!  Rebekah did have a 1 week bout of RSV, but because of her overall good health and her trach, we were able to completely manage the RSV at home!
  •      Rebekah receives abdominal ultrasounds every 6 months to look for issues and cancers. Trisomy 18/13 children have a higher incidence of Wilms tumor in the kidneys and Megalablastoma in the liver. We also have tests done on her kidneys and bladder due to her horseshoe kidneys and reoccurring UTIs. This includes a video-urodynamic study of her bladder every 6 months. We have now graduated to once per year. Her kidneys panels always look good or we would do periodic tests for kidney reflux as well. 
  •      We strongly feel that our proactive approach to managing her illnesses, along with having a trach and being able to manage upper-respiratory-like symptoms AT HOME, help keep Rebekah healthy and out of the hospital on a regular basis.

Medical Issues:
  • Cardiovascular:    Bicuspid Aortic Valve and tiny Ventricular Coronary Artery Fistula causing no current issues (besides a very hard-to-hear murmur). The fistula is too small to bother correcting with surgery, and is probably a  leftover from her VSD in utero that closed on its own right before birth.
  • Developmental:    Global delays in all areas, but slow progress being made. Rebekah is very happy, tracts well, uses nonverbal communication, and is attentive, playful and vocal despite delays. Her strength is social skills – she loves being around people!  Depending what developmental area you look at (there are about 6 different categories), Rebekah ranges from a 4 month old to about a 12 month old.  The important thing to note is that we see consistent development and she has not reached a plateau in any one area. We have no reason to believe this will change, so we rejoice in each and every little and big milestone that she makes!
  • Eyes:  Iris colobomas, Strabismus (alternate patching eyes), small optic nerve, but eyesight seems fairly normal except she tends to focus in on close objects only, photophobia (something typical in all trisomy 18/13 kids and it is recommended to have them all wear glasses outside and dim lights indoors if you see them close their eyes a lot).
  • Gastrointestinal:   Reflux, slow stomach emptying, gastronomy tube placed at 6 weeks (6/2009) – currently using a Mini-One Non-balloon 14F x 1.5cm. Considering a nissen fundoplication in 2012 due to excessive vomiting that, despite getting better after her bowel surgery, did not go away.
  • Musculoskeletal:   S-curve Scoliosis at about 30/30 degree curves (she wears a TLSO daily for approximately 18 hours per day to slow down the progression with the understanding that she will most likely need surgery when she reaches puberty), low tone but good head and neck control, Flat Feet, Right foot - Equino Valgus, possible unopposable thumbs with abductos policies missing, Rebekah would not bear weight on her legs for the longest time. It has only been a few weeks before her 3rd birthday that she has finally decided that putting weight on her feet is a good thing.
  • Neurological:  Brain shows bifrontal atrophy, extra fluid/empty space, white matter leukomalacia,  no evidence of neurodevelopmental abnormality and no seizure activity. She does have slow brain wave patterns that worsens when sleep-deprived. A recent MRI (Jan 2012) shows that her leukomalacia has gotten better and her synapse development (while still behind a typical child same age) has been steadily increasing and improving. We will continue to get MRIs/EEGs periodically to keep an eye on her normal brain function since many trisomy kids have seizures and her brain abnormalities put her in a high risk category for seizures. We see a neurologist periodically.
  • Respiratory:  Trached at 6 weeks old (6/2009) for obstructive apnea due to micrognathia and some floppy airway. Rebekah wears a Shiley Peds 3.5 with either a cap or a passy muir speaking and swallowing valve (PMV). She still shows signs of apnea during deep sleep so she only wears the cap when awake. We have been blessed that she has always tolerated a PMV and we worked her up to wearing it 24x7 so we can hear her sweet voice.
  • Urinary:  Horseshoe Kidney (one has small cyst on it), Detruesor Neurogenic Bladder & Dyssynergia, taking prophylactic antibiotics for reoccurring UTIs.

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