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Billy's CRS/VACTERLS Journey - three to six

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CRS gathering January 09
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From three to six years old ...

May 2003 - Went to Baltimore for LLD clinic.  Met with Dr. Herzenberg.  He estimated that Billy's discrepancy was 4cm, and xray confirmed this, with a projected 9cm discrepancy at maturity.  The discrepancy goes from the smaller left pelvis, all the way down to foot since all bones are smaller than the right  side, but the majority of it is from knee up to pelvis.  Unfortunately, because Billy has limited muscle mass around his left hip, lengthening the shorter femur enough to level his hips would put too much strain on the hip risking dislocation.  So for now, the game plan is to monitor it for a couple years, then lengthen left tibia, possibly a bit on femur too, then at around 12 years of age, staple the right femur growth plate to shorten the right leg two inches to make up the rest of the projected discrepancy.  It will lose him an extra two inches of height, but overall it is the safest way to go, and it is nice to know that the docs are taking his individual circumstances into consideration, rather than just suggesting the most aggressive treatment.
Billy also had his three year checkup, which went well.  The Erythromycin for his DGE is doing a decent job at getting him to eat extra solids, and with his "milkshakes" he has topped 29 pounds!  His health looks good, still tracking at 15% for height and about 20% for weight.  Mild concern expressed about his articulation, so we will get a speech evaluation.  An ear check revealed some granulation tissue growing on his left ear tube (yes, they're still in since 8 months old!) that didn't look good, and Billy has been really stuffy and nasal, with puffy tonsils.  Scheduled a visit with ENT, which found that ear tubes need to come out and so do enlarged tonsils and adenoids. 
June 2003 - 6 month follow up with urology, kidney ultrasound looks great, some concern over urine stream stricturing some again.  Uro will dilate urethra again when Billy is under for his T&A surgery to see if this helps, and check things out to see if he thinks that surgical repair is needed.
July 2003 - Speech evaluation done, went very well.  Billy is in low normal range for articulation for his age, as the difficulties he has are common for his age.  A good part of the reason it can be hard to understand him is his fast rate of speech, which just slurs things together, combined with the mispronunciations.  This should get better.  They want to see him in 8-12 months, just to make sure that he is progressing, unless I have concerns earlier. 
With the hot weather, I'm seeing endurance issues again, like last summer which gave rise to retether concerns.  Only one or two episodes of pain, so hopefully it is just weather related and not spinal cord problem.
Tonsillectomy/adenoidectomy/ear tube removal done 7/17, along with dilation of urethra.  This was a hard surgery in a way, because Billy is now aware of what it means to go to the surgical waiting room.  He cried and got very upset, saying he didn't want to play in this playroom, and that he wanted to go home.  We have been lucky up to this point that he hadn't really remembered his surgical experiences.  Unfortunaly, he is getting older now, and it has only been 5 months since his last surgical procedure.  Afterwards, between the sore throat and his erythromycin no longer working, eating went down to nothing again, drinking even below normal, and he was back down to around 28lbs prior to the surgery, so don't know what he is now :(
August 2003 - Since the T&A surgery in July, Billy's breathing has been much better, and he has been sleeping more soundly also.  His sore throat is all gone, and with a switch back to Periactin for his DGE, he is eating better again and back to drinking his three "milkshakes".  I have also noticed an improvement in his speech articulation, although whether it is from the surgery or just time I can't tell for sure.
The most wonderful thing is since his urethral dilation, he is emptying his bladder more completely, and this has allowed him to finish his toilet training (he started bowel training in the potty in May) and put BIG BOY UNDERWEAR on!!!  Way to go, Billy!
September 2003 - After having a decreased urine stream (AGAIN), taking a long time to pee, and having some urine leaking, Billy had a uro flow test done today.  The results weren't very good.  His stream wasn't strong enough to activate the machine, and he retained 101cc after releasing only 60cc, suggesting a urine retention problem.  The uro scheduled him for a video urodynamics test for next month.
Eating remains a challenge, the Periactin wore off and now GI has taken him off meds till we see him in December to let his system clean out a bit. 
We saw ortho, and Billy was fit for a new brace.  Thankfully, for the first time since he got his first lift at 14 months old, Billy did not need to increase his lift!
October 2003 - We had a most unusual videourodynamics test.  For some reason, the test showed that he had normal bladder function (despite all his leaks and accidents), he didn't retain urine (although he did on test last month), and he knew when he had to go (most of the time I see that).  He had a great stream (which surprised both me and the nurse who had witnessed his uroflow test last month!), which I suspect was from the catheter they used for the test holding the urethra open.
We also saw the NS, who advised us to keep an eye on Billy's symptoms (urine problems, leg pains, back/butt tingling, endurance issues).
November 2003 - saw NS again, things seem to have settled down.  After last year and this year, it seems that growth spurts probably will continue to trigger symptoms of a retether each time.  The key will be if the symptoms quiet down or persist, I guess.  It will definitely drive me nuts :(
December 2003 to February 2003 - Saw the GI doc.  He finally is realizing that Billy's eating isn't going to magically become normal (especially after DGE has been diagnosed finally) and recommends that we try the motility drug Propulsid.  This will involve undergoing an impedence test (for his reflux) and an EKG to make sure his heart is fine, and getting FDA approval since the drug is tightly controlled after heart issues had it pulled out of the general market.  I have heard great things from other parents with DGE kids who have used it! 
We had the EKG on Christmas eve, looks good other than a slight anomaly of left sided electrical activity, which is normal for up to ten percent of the population if they have no physical reason for it, which Billy doesn't (we had a cardio visit to make sure).
The day after Christmas, Billy had a urethral dilation and revision of the opening, along with the closing of a tiny fistula.  He had a catheter left in place for five days to let it heal up, and his stream was wonderful after that!  Almost normal!  However, my joy wasn't too long lived, as it slowly went back downhill like it always has post dilation, although this time it had been stronger and lasted longer, getting my hopes too high.  Billy is still having accidents and is frequently damp, although the padded trainer underwear has been sufficient to catch it so far.
Had the impedence test on January 12th, and it showed that Billy has frequent non-acid reflux, which is most likely compounded by his slow emptying.  This is the best kind to be treated by the Propulsid, so looks like everything is a go.  Just gotta wait for the approval now.

We also did some PT with a local therapist here.  While I don't think it made any long term difference, it was quite interesting to find that Billy is actually a lot stronger in his left leg than I had thought.  His issues stem mainly from endurance, rather than actual strength.  I do think the experience has given us both more confidence in his physical abilities.  He seems more likely to press on in running, rather than just giving up (like when he runs with his brother).


Billy has been having problems with urine leakage and accidents since his surgery in December.  At first it was great but after soon after the catheter came out, he was having accidents and is frequently damp.  Previously the padded trainer underwear has been sufficient to catch any leaks, but he had nine accidents in January and twelve in February that were large enough to soak the through the underwear.  There is no rhyme or reason to the accidents, can be right after going to the bathroom, or two hours afterwards.  Can be while playing, or while sitting with me close to the bathroom.  He seems unaware of having been wet.  He can go several days dry, then have two or three accidents in a day.  Wrote uro a note, he seems to think it may be that his urethra is stricturing again, since he has symptoms of stricture disease.  He will do exploratory surgery in May and correct any problems he sees then.


March 2004 – Saw ortho, things seem status quo. No real change in curve, no need to increase the lift size.  I was surprised at this, since Billy has been tripping more and limping more lately.


April 2004 - Received second opinion for uro with a CHOP doctor.  Thankfully, he pretty much seconded everything we are doing currently and feels that the previous repairs look great.  He thinks that it is a good plan to investigate stricturing next month.  Glad I was spared the decision of what to do if there were two vastly differing views, since I'm quite happy with the current care.  Still, it is good to know that we are on the right track!


Billy got a testosterone shot to prepare him for his exploratory surgery next month to check for possible stricturing of urethra.


May 2004 – Four year checkup with pediatrician went well.  Billy continues to grow and maintain his 15-25% curve for height and weight.


Annual recheck at LLD clinic in Baltimore went well.  No change in LLD since last year, confirming ortho’s opinion that current lift size was fine!  Woohoo!  We've never gone six months, let alone a year without a lift change! J


Uro surgery went well, no stricturing was seen, so just dilated the urethra some.


July 2004 – appointment with uro for checkup.  Things seem okay, stream is a bit better.  He did uroflow test, but results weren't great, which was attributed to equipment malfunction since his stream sounded okay.  He didn't retain urine, so that was good.  I'm not so sure that the uroflow test was inaccurate, since it pretty much looks like his stream always looks to me, and he voids slowly while seeming to push to get the urine out.  I guess as long as it comes out, it's good.  Uro didn't see that Billy was straining to pee, but it isn't so much straining as him using his abdominal muscles to push it out (which you couldn't see under his shirt, I see him peeing naked a lot) rather than relaxing to let it out.


Had a second ortho opinion at Shriners Philly for Billy's hip/spine issues.  Want to make sure that fusion of hemivertabrae area is our best option prior to being told it's time to do this.  The appointment was much more alarming than I had anticipated, with the doctor saying he believed that Billy's lumbar spine was collapsing over the space where he was missing half his sacrum.  He mentioned either fusing the area or the possibility of putting a titanium rib in to stabilize the area, and gave us a script for a 3D CT scan of the area for a better view.


August 2004 – Billy had several accidents while we were on vacation, and was damp more often, but I hope this is due to excitement of summer fun and not any problems.


Had CT scan done at CHOP, which pretty much confirms that Billy has a hemisacrum and is missing left half of sacrum (and coccyx bones).  His L5 vert sags over edge of existing sacrum, and there is a hemivertebrae between that and L4. 


September 2004- Wrote Dr. Emans in Boston and sent him brief history of Billy's spine issues, along with CT scan and xrays.  He believes that fusion surgery in the lumbosacral area with screwing of left hemipelvis to the spine as part of the fusion is the way to go, rather than titanium rib.  Visit with regular ortho seems to confirm this.  He greatly soothed my fears, and said other doctor was being a bit alarmist, since he hadn't been tracking Billy's issues since birth like he has.  He showed me how, despite a slight worsening of his overall curve, the part he was most interested in (the couple vertebrae that are located over the top of each hip ilia) have remained stable.  If this should change, or neurosurgery needs to go in for spinal cord surgery, then he would go in and do fusion.  Until then, we will just monitor it.  What a load of worry off my mind!


Also, Billy's uro accidents have settled down, and other than a few episodes of dampness Hess been pretty dry lately.  We see uro again in October for a kidney ultrasound and we will also be doing some testing for endocrinology. 


October 2004 thru December 2004 - We saw urology, things look good there.  Ultrasound looks good, and while uroflow study showed very slow stream, a post void residual test showed that Billy IS emptying his bladder.   We started four weeks of HCG shots to make sure that Billy's urogenital anomalies weren't hormonal in nature, and the testing confirmed this.  It's good to know that won't be a future problem, all his issues were due to the Sacral Agenesis.


January 2005 to  March 2005 -  Saw Dr. Betz again at Philly Shriner's.  He does feel that Billy's spine will continue to slip as he gets older and heavier, and recommends that we consider implanting the titanium rods (part of the VEPTR procedure) to try and lift the lumbar spine out of his pelvic area prior to a lumbosacral fusion.  He feels that Billy's right hip is pushing up into his ribcage area and that will cause a problem soon.  While he agrees that things are stable now, he shows that there has been considerable change from birth once he was weight bearing and feels future weight will cause spine to slip further.  He seems to have good points, and I feel that I cannot discount this without further research.  I have agreed for them to put Billy on the surgery schedule, since it will take quite some time for them to work him in (9-12 months!) and we can always cancel if we change our minds.  I sent emails with the CT scan pics, xrays, and an overview history to another doctor that a friend uses whose opinion I trust, and he agrees with Dr. Betz that it would be much harder to address Billy's spine issues if we allow them to get worse first, and that there is a good chance that the rods WILL help straighten him prior to the fusion.  Either way, I have three docs that feel that fusion is the way to go sooner rather than later (after worsening), two who feel the rods can help achieve correction prior to the fusion, and only one who wants to watch and wait.  At this point, I feel in my gut that this is something we need to try (we can always remove the titanium rods if correction isn't possible, they aren't permanently attached, and go straight to fusion then) so I can say to Billy that I tried everything I could to help him out.  The surgery will probably be somewhere between November 2005 and February 2006, with one or two expansions taking 6-12 months after that before the fusion.  We did see the old ortho once more, and got an additional .5cm added to the lift, and a script for a new AFO.


April 2005 - Saw urology for six month checkup, ultrasound looks good, uroflow still slow but uro thinks some skin obstruction may be affecting that.  Post void residual afterwards shows that he is emptying completely, and given that and the fact we have no infections and Billy is dry, uro feels this is something we can just watch.  We picked up Billy's new brace, brought it back for two adjustments, then the orthotist decided that it was overcorrecting Billy's foot, so he recasted his foot again and redid the whole thing from scratch, LOL. 


May 2005 - Saw Dr. Betz again, things seem a go still for later this year.  Got more details on the surgery and Dr. Betz's reasoning and he wants Billy to come there in June to be presented as a case to the doctors attending a VEPTR teaching seminar.  It should be interesting to hear their discussions, may learn something! 


We went to Baltimore for our LLD clinic and got wonderful news!  Based on current measurements, it looks like Billy's leg length discrepancy will only be 6cm instead of the previoulsy predicted 9cm.  This means we can most likely get away with the shortening of the longer leg instead of lengthening the left one with a fixator for six months.  Given Billy's lack of muscle and only one artery below the left knee, Dr. H would much prefer this due to chance of complications with fixator for those reasons. 


We also saw neurosurgery, and things went well.  Billy has had no complaints of pain, and his legs and endurance seem stronger.  He does want to continue to see him yearly (barring problems) and he suggested that we will probably want a new MRI prior to the spine surgery, and to discuss with Dr. Betz how the spine surgery may pull on the scar tissue causing symptoms, and to question if this will be monitored..  We picked up the new brace, and it has been great.  It provides strength and stability for his leg/ankle and holds the correction that Billy has gotten from the clubfoot surgery and AFO use, but doesn't pull anywhere for more correction.


June 2005 - We took Billy to Shriners to be a case presentation to a group of visiting doctors there to learn the VEPTR surgery procedure.  It was very interesting to hear their take on what they would do for Billy, when Dr. Betz stated that that he was considering him for compassionate use of the VEPTR to stabilize his lumbosacral spine.  Several of the doctors had children with a hemisacrum like Billy, and their opinion seemed to be that stretching that area would do more harm than good in that it would put pressure on the nerves and affect his bowel, bladder and leg function.  They said unless his scoliosis was progressing (which I don't think it is, at least not since the initial curve progression after he started weight bearing) it was better to just leave the area alone and watch and wait.  This is what his original ortho has been saying all along, and of course, has confused me again, just when I thought I had figured out what was the best course of action!  The more I consider their words, along with the concerns brought up by the neurosurgeon in May, the more I think that they are right.  I am sending xrays to Dr. Betz at his request so he can check from the time he started getting standing xrays to see if his curve really is progressing.


July 2005 - Billy had a speech evaluation done at the request of his pediatrician, who felt that his articulation wasn't meeting norms.  He just missed the normal range by one point, and they are recommending that he have some speech therapy to catch up.  He still can't say Rs and Ls (says Ws for those) and I knew that, which isn't unheard of at his age, but he has other substitions also that I really don't hear anymore since I'm so used to listening to him, and those should have been resolved by now. 


August 2005 - We had a consult visit with Nutrition, and it seems that Billy has lost almost two pounds this summer :(  I knew he wasn't eating well, but didn't realize it was this bad.  Met with new GI the end of the month, and we decided to start Billy back on Periactin to try and jump start his appetite/motility and see if that works.  If not, she may want to rerun some tests (EGD, GES maybe...) to see what things are doing on the inside and provide us with more info.  Received a call from Shriners that after reviewing a series of xrays over the past couple years, using the same landmarks for measurement, that Billy's curve is holding steady at 40 degrees and not progressing, so surgery is definitely not needed!  WOOHOO!


September 2005 - We started kindergarten with a 504 plan and an Individualized Health Plan in place.  So far so good :)  Saw ortho at the end of the mom, all looks the same :)  Scoli is stable, leg and foot look good.  Got a new shoe lift put in.


October to November 2005 - The Periactin seems to be working, Billy's appetite is a bit better, and he did gain back the weight he lost.  He started speech therapy one day a week for a half an hour to work on his articulation errors.  Seems to be helping.  We saw uro mid month, and all is status quo.  Uroflow test still shows slow weak stream, but still completely emptying and no infections, so all in all great news.   


Went to allergy clinic in November, skin tests show that Billy is allergic to grass and a blood test for latex didn't show an allergy.  Next step is the graduated skin test for latex, which is more sensitive and needs to be done as a procedure in case a reaction occurs.  This has been scheduled for February.  Speech therapy is going well, with continued improvement shown.  Eating is still showing an improvement.  The fused bones in the side of his left foot are bowing outward, causing a large callus to form and requiring his brace to be adjusted to give the area more room, but per ortho, it would have to get pretty bad before anything needs to be done.


December 2005 - Billy had a modified barium swallow study done, which showed that his swallowing has greatly improved and all looked normal.


January  to March 2006 - Speech therapy still going well.  We did the second part of Billy's latex testing, which involved injecting a tiny percentage solution of latex under the skin in increasing amounts, and no reaction to that :)  The third part of the challenge is in a month or two to see if touching latex gloves and inhaling the dust provokes a reaction (the tests are done with precautions ready should the child have a skin or anaphalactic reaction).  If he shows no reaction, we will know our precautions are working and we don't have to worry about every little exposure to latex, although we'll still keep him away from the biggest culprits, latex gloves, balloons, balls, etc just to be safe. 


March unfortunately brought bad news.  Billy's GI system is full of gas or stool and we need to find out why.  GI is testing for Celiac Disease (intolerance to wheat proteins) and a bacteria and we will be seeing General Surgery department to see if his bowel management program needs to be revised.  Then we saw orthopedics and it seems that Billy's scoliosis is worsening after a 3 inch growth spurt the past year and he may need fusion surgery to stabilize the area and prevent further worsening.  He is scheduled for a CT scan next month to compare to the previous one, since they couldn't measure the scoliosis since his intestinal gas prevented them from visualizing the lumbar vertebrae.  Also, his tibia is twisting and his knee and foot are no longer in alignment.  This can be corrected later when he has his leg lengthening surgery with the same fixator.


April 2006 to May 2006 - GI testing came back negative, and an xray showed the abdomen looked good, so we are not sure why Billy is so gassy, but no big problems are noted so that is good.  Uro visit went well, and uroflow study seemed a touch better than usual.  We are scheduled for a kidney ultrasound the end of May.  Met with ortho to review the 3D CT scans (done on April 18th) on Billy's birthday.  Seems things are worsening and Billy will need lumbosacral fusion with pelvic fixation surgery in August to stabilize his spine/hip connections so things don't worsen further.  He will need a urodynamics workup to get a uro baseline prior to the surgery and ortho is waiting for results of MRI scheduled for May 23rd to see if any retethering of spinal cord needs to be addressed prior to spine surgery .