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Billy's CRS/VACTERLS Journey - birth to three

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From birth to three... Billy's journey...

Billy was born on May 11, 2000.  At birth, the doctors found that Billy's left leg was shorter and smaller (hypoplastic, in medical terms), with a severe clubfoot, and that he had genital anomalies, including hypospadius, a heart murmur and a single umbilical artery (instead of the normal two arteries).  An hour or so after birth, during his bath, it was noted that he had an imperforate anus.  Four hours after birth, he was transferred to another hospital with a level III NICU, and further testing revealed a missing right kidney, sacral spine abnormalities, and a Grade I bilateral IVH (intraventricular hemorrhage of the brain).  Found out heart murmur was from tiny PDA (hole between lungs and heart that didn't properly close), which was expected to close on its own.  He had surgery the day after birth to create an anus, and after phototherapy for jaundice, was release from the NICU at six days old.  We were thrilled to bring home our beautiful baby boy.
May 22, 2000 - at 11 days old - Billy had his first MRI of the brain, thoracic and lumbar spine.  Brain results were normal, and the radiology report stated no tethered cord.
June 2000 - Saw pediatrician for 3 and 5 wk checkups.  Saw Dr. Neff, neurosurgeon, who stated that he disagreed with the radiologist, and that Billy did have a tethered spinal cord.  He suggested monitoring till six months old.  Met with eye doctor who examined Billy's eyes for congenital malformations, but everything looked normal.  Met with general surgeon who examined his created anus, and pronounced his butt "beautiful", and assigned us daily schedule of dilations to keep it properly stretched as he grew. 
July 2000 - Saw pediatrician for 8 wk checkup.  First visit with new neurosurgeon, who thought that Billy showed signs of neurological impairment in his lower spine and left leg.  He felt that we should redo MRI at six months of age to get a clearer picture.  Orthopedic visit went well, started weekly strapping of clubfoot to try and turn it gradually, with the intention of eventual surgical correction at about one year of age.  Follow up with general surgeon, everything going well.
August 2000 - Saw urologist, got the gameplan for Billy's genital reconstruction.  Hope to complete all repairs in one operation at six months of age.  Ordered kidney ultrasound, which confirmed left kidney is missing.  More clubfoot strapping with orthopedics.
September 2000 - Four month checkup with pediatrician. Visit with ENT due to Billy's stridor, has mild laryngomalaccia but not a real problem.  Checkup with general surgery, all looks good.  More strapping of clubfoot.   Outpatient urological surgery to remove bilateral hydroceles from testicles.  Billy showing signs of discomfort from tethered cord when legs bent back for diaper change or sitting in my lap, tried to get hold of NS, but after he didn't return my calls, got second opinion from doctor at CHOP where original MRI done.  Had second MRI done by new doc, which clearly showed a tethered cord, and surgery was done to release it six days later.  Released from hospital after two days, and vast improvement shown.
October 2000 - Ear infection prompted visit to pediatrician.  Follow up visit with NS, looks good.  Follow up with urology, surgery healed well.  Saw ortho, fitted for a foot/ankle brace, and had ultrasound done of hip.  Hip is rotated sideways.
November 2000 - Saw pediatrician for six month checkup, twice more for ear infections.  Follow up with general surgery, all good, okay to start solids but avoid constipating foods like rice, cooked apples, bananas and tapioca - push prune juice.  First genital reconstruction surgery, results good, but hypospadius worse than anticipated.  Will require another surgery to fix it.  Released after overnight hospital stay.  Three follow up uro visits to check post surgical healing. Cardiology follow up, echo cardiogram shows PDA closed, released from cardiology!  Audiology test done, okay, but flat tympanogram - probably due to ear infection.  Need to retest after ears are cleared up.
December 2000 - Saw pediatrician for ear infection.  Saw general surgery and did flat plate xray to check for constipation. Discussed use of Senokot.  Ortho visit checked AFO (brace), holding foot progress nicely, will schedule foot surgery for May.  Saw urology twice for post op checks, looks good.  Met with genetics, diagnosis of VATERS Association with features of Caudal Regression Syndrome, probably due to a vascular accident during gestation.  Should pose no problem for future children for myself, Billy or siblings.
January 2001 - Saw pediatrician twice for ear infection.  Referred to ENT, who recommended ear tube surgery.  Follow up with general surgery, okay, but starting Senokot nightly due to major constipation following increasing amounts of solid food in diet.  Post op check with urology.  Follow up with ortho, concerned about one artery to foot compromising blood flow during surgery.  Referred me to orthotics to refit AFO.
February 2001 - Visit with pediatrician for 9 month checkup.  AFO refit.  Follow up with urology, did VCUG and kidney ultrasound, results good.  Visit with general surgery to lance abcess on left buttock.  Ear tube surgery, outpatient.  Visit with endocrinology to check out hormone levels, which came back within normal limits.
March 2001 - Follow up with general surgery, all well, no need for future follow ups unless problems. Call Fran Gill with bowel management issues.  Visit with gastroenterology, Billy having difficulty swallowing advanced food (second stage baby food) textures, gagging, vomiting.  Set up gastric emptying test and modified barium swallow to check for problems.  Audiology retest done, left ear better than right (which had majority of infections) but okay.
April 2001 - GI tests of gastric emptying and modified barium swallow done, found GI reflux and mild swallowing dysphagia - delayed swallow trigger and aspiration of thin liquids.  Started on Zantac, improvement noted after about 2 weeks.
May 2001 - One year checkup with pediatrician. Urodynamics study (CMG) done, within normal limits for age.  Pseudomonas UTI.  Clubfoot and hypospadius surgery, overnight stay.
June 2001 - Several post op checks for urology.  Repeat problems with UTI.  Post op check with ortho, cast and pins removed.  Fitted for new AFO, then recasted for a week until ready.
July 2001 - Cast removed.  Received new AFO, wear 23 hours a day.  Admitted overnight to begin IV antibiotics for UTI.  Continue at home seven days.
August 2001 - Follow up with urology to do urine culture.  Pediatrician visit for 15 month checkup, lost almost 2 lbs.  Supplement diet with pediasure, monthly weight checks.
September 2001 - Urology diagnosed Billy with urethral diverticulum (pouching of urethra behind a narrow opening).  Scheduling for surgery to dilate urethra to try and release pressure which is creating diverticulum.  Gastroenterology follow up, feels weight loss due to stress of surgeries and UTI.
October 2001 - Uro follow up, diverticulum still there and enlarging.  Will need to surgically correct this.  Follow up with neurosurgery one year post op for TC release, all is well.  Ortho visit to check out C curve of spine, will do xrays next visit.  LLD is up to about 2-3 cm, shoe lift increased to 1.5cm.
December 2001 - Diverticulum surgery done.  Follow ups with urology revealed great results.  Endoscopy done at same time as uro surgery, revealed gastritis. 
January 2002 - GI prescribed Reglan to help keep stomach empty to let it heal.  Wants to start Periactin in spring to help increase Billy's appetite, since still not eating well and weight has been up and down since August.
February 2002 to April 2002 - Started Periactin in late February (Billy weighs less now at 21 months than at 12 months, poor feeding, hunger strikes), and this helped increase appetite. Still supplementing with 1 can pediasure a day.  Gained two pounds in one month and then another pound and a half over the next two months.  Saw endocrinologist, going to check hormone levels next visit since height has dropped from 50% last visit to 10% this visit.  Saw Ortho in March, xrays confirm long segment (T3-S1) mild-moderate levoscoliosis (26-30 degrees).  Can see it is worse than in December when comparing xrays.  Found extra rib on left side.  Will rexray in September, standing up with lift, and also get xray of cervical spine.  Shoe lift increased to 2cm.  Back to ortho again in April for toddler fracture of right leg.  Casted for three weeks, another 2 weeks to get back to normal, and he is fine.
May 2002 - Had two year old pediatrician visit.  Had new urodynamics (CMG) test and kidney ultrasound done in late May, looked good.  Urologist able to easily catheterize Billy, so diverticulum surgery a complete success. 
June 2002 to July 2002 - A hunger strike in early June dropped a pound, and GI put him on three cans of pediasure a day since not eating solid foods (12 days total).  Gained back 2 pounds.  Saw GI in late June, who feels Billy has a behavioural eating disorder and wants to refer him to be checked out by CHOP's feeding disorder team.  To try and avoid that, I cut out his daytime pediasure and substituted water to try and "make" him hungry for solid food, since he prefers to drink his nutrition.  After a couple of days, this seemed to be working pretty well and continued to do so for about 2 weeks till his eating slowed down and gradually tapered off again from teething and an ear infection.  Antibiotics helped with the ear, and he started eating more again, but upped pediasure to two cans a day, since he lost just over a pound while eating "normally."  Never a dull moment.
September 2002 to December 2002 - In late August I noticed one day at the pool that Billy was standing on the inside edge of his right foot.  A visit to the ortho determined that the arch on that foot (the "good" foot) was falling when he stood up, indicating a muscle imbalance.  The doc felt that it was neurological in nature.  As I watched him, I started noticing that his endurance wasn't as good as early in the summer, with him asking to be picked up more often during walks, and occasional crying that his back had "ouchies".  We visited the neurosurgeon, but they are taking the conservative approach that unless he is in significant daily pain, they aren't going to even worry about it.  The ortho doc asked our urologist to run another bladder function test during our December visit to compare with the one taken in May, and if it showed any changes he would order an MRI. 
In mid September, we went to the feeding clinic at CHOP.  The doctor there thought that maybe Billy still had some undertreated reflux issues that may be affecting his eating.  She suggested we switch to Prilosec instead of Zantac.  At first this seemed to work great!  He was eating three meals a day, with an occasional snack, actually ASKING for food, and saying those beautiful words "I hungee"!  However, about four weeks later, he got a cold, and the past seven weeks have been back to his normal eating pattern of either refusing solid foods, or taking a couple bites and pushing it away.  Thank goodness for the Carnation Instant Breakfast he drinks 3x a day now, at least it is maintaining his weight and keeping him on track at the 15% percentile for his age. 
We had our CMG test and uro visit in early December.  The test was basically the same as the one in May and didn't show an obvious problem, but uro doc said that given Billy's age and his inability to communicate exactly what he was feeling, it doesn't necessarily mean that his urinary function is normal.  We also found out that Billy seems to be retaining urine, and that will have to be watched.  We saw the ortho again, and he is concerned enough about the possibility that Billy's spinal cord might be retethered that he has ordered an MRI, which will be done on 1/23/03.
January 2003 to March 2003 - We had the MRI done, no real changes noted from the previous one done prior to the cord release.  We had a nasty gastro bug go through the house, and Billy ended up in the ER and admitted for dehydration from repeated vomiting.  Went to see the NS in beginning of February, and he was concerned about the leg pains and mostly Billy's urine stream changes.  Uro thought that this might be due to Billy's urethra stricturing from his HS repair, so NS wanted this checked out.  A cystoscopy was done on 2/10, and the uro doctor found that Billy's meatus was very tight, so he dilated urethra.  This helped his urine stream greatly at first, although now it is slowly narrowing again.  It seems that the problem is strictly structural rather than neurological.  Because of this, and because Billy's leg pains seem to have stopped for now, the NS is just gonna watch and wait.  Being too aggressive with possible retethering could cause more problems that what it cures, so surgery is a last resort option.  We will see him in a year, unless problems start again and get worse.
Meanwhile, Billy's eating habits have gotten even worse, with him refusing mostly all solids and existing on Carnation Instant Breakfast.  I did get him to eat a decent dinner one night, but he spit it up almost five hours later during a coughing fit.  The food was pretty much undigested, so I called the GI nurse, who scheduled us for a gastric emptying scan.  We performed the test on 2/19, and it showed that Billy only emptied 8% of the milk he drank (vs. 50% normal) in an hour.  No wonder the poor kid is never hungry!  He was diagnosed with DGE (delayed gastric emptying/gastrparesis) and they started him on Erythromycin, an antibiotic with motility side effects.  After about two days I started noticing a change.  For the past week, Billy has been sitting down at at least two meals a day and eating something!  It isn't enough calories to stop the "milkshakes", but it is such a joy to see him eat and actually enjoy it.  However, I'm afraid to get my hopes up too high, as he has gone through these phases before with different meds, and they have worn off.  I've heard from other moms dealing with DGE who said that this medicine's effects will wear off, but then there are other meds to try.  I'm keeping my fingers and toes crossed.  Billy tends to do better in spring/summer with less illnesses around, so hopefully we can get some calories in him and a growth spurt before next winter!
We saw the ortho doc in late March, and Billy's scoliosis seems status quo, although they used the MRI films rather than take new xrays.  We found that Billy has a small hemivertabrae between L5 and S1, and that is what causes Billy's spine to take a sharp turn at the lumbosacral junction.  It will need to be watched carefully, if it grows suddenly it will require fusion surgery.  Billy had been tripping again and off balance, so we added another .5cm to his lift for a total of 3cm now.  He is walking and running so much better with the additional height.
April 2003 - After watching a special on limb lengthening on the Learning Channel performed at the International Center for Limb Lengthening, I did some research on their site and made an appointment for Billy to get a second opinion on his leg length discrepancy and see what this doctor advises for him.  Currently we are in "wait and see till he gets to about 10 years old" mode, and I don't know that I am comfortable with that approach.  With Billy's leg issues that he has added to a 6cm or so lift predicted at that point, it would make things difficult for him, especially running and playing with other kids.  If there is a way to make things easier for him, I want to check it out...