Posterior Fossa Decompression Surgery is set for August 8th

We had our third and final consultation with a neurosurgeon today and we were very impressed.  It's hard deciding where to have surgery but we based our decision on what works best for our family time wise, reputation of the surgeon, overall gut feeling, and the fact that he already sees other doctors at that hospital.  The pre-op appointment will be a few days before surgery and includes a consult with the anesthesiologist, a child life specialist and a quick MRI.  We also have some blood draws to do before surgery.

Chiari malformation with syringomyelia

There has been a major development here.  About 3 weeks ago Auggie slipped on wet concrete and hit his head hard.  He seemed fine for a few days but then on day 5 his head looked swollen and he seemed really out of sorts.  We had been in touch on the phone with the pediatrician but she had reassured us that as long as he wasn't vomiting we needn't worry.  That all changed when we brought him in on day 5 - she told us to get him to Children's Hospital ASAP. A CT scan confimed a fracture and heavy bleeding above the skull as well as an epidural hematoma in the brain.  He was checked in for observation and listed in serious condition - that night in the ICU was one of the hardest nights of my life - I didn't eat or sleep for 24 hours. 

The next day an MRI showed that the bleeding had slowed BUT it also showed that he had a malformation in his brain - the back of the brain was herniated and pushing down into his spinal column - the technical term is chiari malformation.  This malformation was an incidental finding and had been there all along - not since birth though - an MRI when he was 6 months did not show the malformation.  In addition, the MRI showed that he has 2 large cysts in his spinal canal that have formed due to fluid getting backed up around the herniated cerebellar tonsils.

After consulting with the neurosurgeon we were told that the pressure that the herniated tonsils and the cysts put on the spine can lead to paralysis if left untreated.  As it is, the malformation may be what is currently responsible for his difficulty with eating and drinking and his quick gag reflex that often leads to vomiting once he starts gagging.  We are told that it is a good thing it was discovered now and not later when it could have caused irreversible spinal cord damage, but we are not excited about the looming brain surgery.

The surgery (a procedure known as posterior fossa decompression surgery) to correct this problem entails opening and cutting away a piece of the skull and vertebrae, opening the dura (duraplasty) and patching it to give the brain more room, and if needed shrinking the cerebellar tonsils by cauderizing them - that part of the brain we are told has no function (you would hope). Then after 4-6 hours of surgery he will be in the hospital for 3-5 days.  The complications include infection and leaking of fluid from the patch - both potentially life threatening. The surgery itself does not address the cysts, but rather the cause of the cysts (the herniated cerebellar tonsils, which in his case push down 2 cm below the point where they should stop)  The hope is that the cysts disappear after surgery as the flow of fluid becomes smoother around the back of the brain.  An MRI to check this is done 6 months after surgery. If the cysts do not go away, then a second surgery is required to drain (shunt) the cysts - form what I have heard this operation is far more risky and complicated.

So far we have consulted with two neurosurgeons and we have a third appointment next week. So far they have both agreed that surgery can wait until August as he is not showing worsening symptoms at this time. To complicate the matter we have also found out that Auggie has some sort of clotting disorder and we are working with a hematologist to pinpoint it so that we can address it before surgery.  He is currently taking vitamin k before we have his PTT levels tested again next week.   I will be posting updates on this issue as we find out more....  

GI - gastroenterologist update

This was the first GI appointment that did not result in any blood draw recommendations.  He is on  the charts for height and weight and BMI, although in the low 10th percentile.  All good things considering where he's been. We're just going to keep doing what we're doing - he still drinks special formula from a bottle but the doctor says not to challenge him since he could easily get dehydrated.  So, even though he is four now we will let him have his morning and evening bottles while he gets better at drinking from a straw cup.  He is still on periactin (cyproheptadine) 1 mg three times a day about 1 hour before meals to stimulate his appetite.  It works really great for him.

Opthalmology appointment shows no strabismus

You've probably heard it before if you are reading this blog - "is there something wrong with his eyes? Could it be strabismus?"  I' had been hearing  this question for months from therapists, teachers, etc. Granted my son has uniquely shaped eyes but it didn't even occur to me that there could be anything medically wrong with them.  A visit to a Stanford opthalmologist ruled out strabismus and any other conditions AND his vision is age appropriate. Yay!

Whole Exome Sequencing

It's been a while since I last posted, but really we still have no answers.  What's new is that we are new pursuing the genetics route.  More and more tests are becoming available and we are going to be doing a whole exome sequencing.  The blood test looks at the genes that interact with the protein in the body. Don't ask me how it works, it's complicated. According to the geneticist it is a broad test but it can tell us a lot.  So, now we wait for authorization - apparently the test costs in the thousands. The blood is drawn from my son, me and my husband and sent overnight on ice to Texas - Baylor School of Medicine. 

Low Platelet Count - Abdominal Ultrasound

My sons platelets were low for several months and then the last test showed them in the normal range, low, but normal.  He also had an abdominal ultrasound to check his spleen since an abnormal spleen can cause low platelets.  His doctors were also a little concerned about all his bruises on his legs, but luckily they were just the result of being an active 3 year old and not a blood clotting problem.  When you hear the word platelet you just can't help but assume the worst - leukemia.  Luckily, the sleepless nights were short lived and he now seems to be doing much better.

Yet another specialist??

18 months after the feeding tube came out, we're still looking for answers as to why it ever had to go in.  Auggie still struggles with food and often gags on his own saliva.  Our doctor has recommended seeing an endocrinologist next.  He is still not on the CDC growth curve for weight and is about 15th percentile for height, a drop since we last had him measured.  Could we be looking at a hormonal imblance or a thyroid problem?  My gut tells me, no....Adding another doctor to our list means more bloodwork and other work-ups.  I'm on the fence. Update: His wrist x-ray showed his bone age to be at 3 years of age when it should have been 3 and 7 months. The doctor determined that he was not lagging enough behind in growth to necessitate seeing an endocrinologist.  Usually a lag of 12 months warrants seeing an endo doctor.