GI complications after surgery

Surgery is almost 7 weeks behind us now and we are dealing with a host of issues.  Auggie has not really been eating for about a month now. He got constipated and started holding his urine.  We have been in to see his gastroenterologist and we did a whole treatment for constipation including enemas, suppositories and miralax.  We feel like he is better but the appetite has not returned.  In 2 weeks he will have an endoscopy to look for obstructions, inflammation and anything else that could be wrong in his upper GI tract.  They will also do a biopsy to check for celiac disease and the presence of eosinophils - the little buggers that show up in your intestine when there is a food allergy.  We hope this is just a slow recovery after being constipated and nothing more serious.  He is also having his follow-up MRI 1 month sooner than planned to make sure everything is okay there.  We're also planning a renal ultrasound and a modified swallow study (x-ray movie of him swallowing)

Surgery Day and Recovery

I am writing this a few weeks after surgery - it was just too much to keep up with this blog!  After we checked in for surgery we had to force him to drink the pink medicine (valium). He was not happy about that but once it kicked in he was giddy and was wheeled away from me with no problems - the surgeon reassured me, gave me a hug and then walked into the operating room to start preparations.  The waiting was the hardest part.  After surgery the neurosurgeon came and talked to us and told us that it went well, but there had been quite a lot of  bleeding and they had given him plasma.  They had actually taken off a bit of C2 to make more room - normally only C1 is removed (the first vertebrae). We elected to participate in a genetic study so the bone was mailed off to a research center, I believe at Duke University. 

After recovery he was moved to the PICU where he looked up for a little but was mostly knocked out after anesthesia and pain meds - fentanyl and Tylenol were given for pain through his IV along with adavan and Zofran for nausea and vomiting. He vomited bile a couple of times and then he was better.  He was to receive amicar (the medication that helps keep blood clots formed) for the next 5 days.  After 2 nights in the PICU he was moved to the floor and we had a private room with bathroom.  He didn't really start eating until day 4 and then only nibbles.  His neck was so sore and he was barely able to walk.  The physical therapist came to work with him a couple of times and he could barely move - I thought recovery was going to take forever.  We were discharged after 5 nights at the hospital and by day 2 at home he was moving so much better.  He was started on a steroid while at the hospital to help his appetite and we tapered it off at home. He actually was eating really well the first 10 days after surgery and then he got sick and stopped eating.

At home we continued to give Tylenol for a week or so until his headaches went away. The incision healed nicely and we kept it covered for a good 2 weeks so afraid that he would pick and get it infected.  Now the sutures have dissolved and his scar is looking reddish. 

Auggie's posterior fossa decompression surgery: Pre-op

 Pre-op MRI
Auggie had a very difficult time with his quick MRI, He had such a bad experience last time after his fall that he associates the whole experience with pain and discomfort, plus he is terrified of the noise.  Even though we had practiced at home and pretended that we were astronauts going on a mission in our space capsules he would not have anything to do with it. Basically we had to swaddle him and force him to lay down. I was able to lay just below him between his legs and try to comfort him - I think I promised him every toy in the world if he would just lay still.  We got through it after much screaming.

Next we met with the anesthesiologist to go through medical history and the dietary restrictions for the following morning. After that we met with he neurosurgeon to go over the procedure and sign consent and waiver forms.  We were told that the MRI still showed chiari malformation with a significant syrinx.  Since he has a blood disorder they were going to give him two medicines prior to surgery to help with clotting - amicar and novoseven. In addition they would have plasma at their disposal if needed for heavy bleeding.  Off to the hotel now for some rest before the big day....

Auggie enjoying a hike 2 days before surgery

Noonan Syndrome test result is positive!

We just found out a few days ago after waiting over 2 months for the results that Auggie has Noonan Syndrome (NS).  We don't know yet which gene it is that is causing it as there are 11 different possibilities, but we will meet with the genetics team later in September after his surgery to find out more.  We are not surprised as we suspected it all along - my husband an I were actually the ones who requested that the test be done as our research showed too many similarities between Auggie's symptoms and other people with NS, specifically valvar pulmonary stenosis, bleeding disorder, easy bruising, developmental delays, growth problems, and specific facial features. 

Our genetic counselor asked me how it felt to have this answer and I must say that it is a relief to know which condition he has so that he can get the help he needs and we can communicate his needs to others better, but he is still just our fun-loving Auggie-doggie!!

Hematology results are in

We just found out that Auggie's blood again tested positive for a rare condition - Factor XIII deficiency. It was the third positive test. In order to stabilize him for surgery he will be given Amicar and Novoseven (to pump up his low Factor VII)  The doctor is confident that Amicar will be effective as one of his blood samples was tested with it and it produced normal clotting.  It is not known why he has this blood anomaly and the doctors would like to perform some gene studies to figure out if it is a malfunctioning gene that is causing the clotting problems.  It's still a mystery to us why he has had all these health issues since he was born, but we feel like we are now getting closer to finding the answers.

Posterior Fossa Decompression Surgery

Now that we have decided on the neurosurgeon to perform the surgery we can focus more on the details of the procedure.  As an interesting side note, the neurologist noticed something on Auggie's MRI from when he was 6 months old - a large vein that is in the very back of the brain (straight sinus - the dark line you see here towards the back of the skull) was almost vertical and is usually at more of an angle - he said that this is sometimes an early indicator of chiari malformation.  We were not told anything about this at the time. 

Here's the MRI from May 2014 that shows the chiari malformation and syrinx. In this image you can see that part of his brain is squeezing down into his spinal canal resulting in a syrinx (light colored bubble in his spine):

As for the surgery itself, the neurosurgeon will shave off part of the bone in the back of the skull in addition to the fourth vertebrae to make room for the brain to move up, then he will probably shrink the bag around the cerebellar tonsils to make them move up into the brain more.  Finally he grafts the dura with Durepair and seals it with Tisseel.  The hope is that there is no CSF leakage or infection.  Other complications include blood loss.  Auggie will spend one night in the ICU followed by about 3 nights in a hospital room.  Full recovery takes about 6 weeks and we return for a follow-up about 2-3 weeks after discharge.  A follow-up MRI is done 3 months after surgery.  I will post more details as we get closer to surgery.

Surgery is postponed until Sept 3rd

Auggie's surgery is postponed until Sept 3rd due to some pending lab results.  His blood is being scrutinized and tested to make sure that it can stand up to the pressures of surgery.  The item in question is Factor XIII deficiency - an extremely rare condition found in only 1 out of 5 million people.  He tested positive for it in July - they even ran the test twice on two different blood samples.  Because it is so rare, no one believes it to be true, so the test is being run again and we should have results by August 14th.  Not only is the factor XIII questionable, but he does indeed have low Factor VII which is what helps the blood clot in a timely manner.  Vitamin K can sometimes help with clotting and can elevate Factor VII levels, but even after oral doses of vitamin K his Factor VII stayed low.  We will know more next week when we speak to his hematologist.

Echocardiogram

Auggie recently had an echocardiogram that showed some improvement from two years ago. In other words, as he has grown, so has the valve and therefore the opening that lets blood flow to the lungs is bigger. The flaps that open and close are still a little slow and do not open all the way, but according to the cardiologist this should not impact his daily life in any way.  Good news overall!

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.