Surgery is being postponed!!

I can't believe it's been almost a year since my last post.  Last time I wrote, we had just discovered that Liam's syrinx (the cyst in his spinal canal) was back.  It is still there - surgery was planned for January 2017, but then he got sick with pneumonia and it was postponed.  His doctor has since decided to take a more cautious approach, choosing to wait as long as we can before operating again. Auggie also has a retroflexed odontoid which complicates matters and could indicate that he needs fusion surgery - a different type and more complex surgery.

Right now we're buying time, time to rule out other conditions that could make his condition worse, time to let his bones grow and his neck become stronger.  In order to try to get a complete picture we have added several more specialists to his list of doctors - new last week was urology and neurology, new last month was pulmonology.  We've seen 4 different geneticists in the Bay Area hoping to figure out if he has any other chromosomal abnormalities.  Since he has Noonan Syndrome he most likely has some type of connective tissue disorder which could be why he has a slumping brain to begin with.There are still so many questions and so much research to be done in this area - another reason why holding off on surgery might not be a bad idea.

In the next couple of months Auggie will have a sleep study to rule out central sleep apnea - the presence of CSA would indicate surgery sooner rather than later. Also, if hes shows signs of further neurological impairments he would need surgery sooner.

In the meantime, Liam continues to live and love life just like any other 7 year old. He is finishing Kindergarten next month, has lost 7 teeth, loves books by Mo Willems, Teen Titans, soft sand beaches and peaches!!

He had his first unsedated MRI last month and he was a champ!  He did so well - last time we tried it he was kicking and screaming and in panic mode.

We have learned to make accommodations for him; limiting his physical exertion, no rough play, no trampolines, no bouncy houses etc. Some days plans change at the last minute when he gets debilitating migraines. He still drinks from a straw and drinks a special non-dairy formula to supplement his calorie intake.

He is our little fighter and has a wicked sense of humor. Oh, and he loves rock n roll!!

Decompression Surgery was not successful - his syrinx is back :(

It is not what we had expected.  After his surgery in 2014 we thought we were all done with this. We thought we were out of the woods and moving on. It turns out that he most likely has other medical issues contributing to the brain malformation which were not known at the time of surgery.

In my previous post I wrote that his syrinx (the bubble in his spinal cord) was smaller 1 year post-op. Now, almost 2 years post op it is bigger. Additionally, his odontoid is now retroflexed which means that it is squeezing his brain stem (yellow circle in first image). The reason for the curved odontoid most likely is that he has joint hypermobility, diagnosed later by genetics.  This is where it gets tricky. He was diagnosed with Noonan Syndrome on August 24, 2014. People with Noonan syndrome can have joint hypermobility that looks a lot like Ehler-Danlos Syndrome 3 (EDS3).  On September 3, 2014 he had posterior fossa decompression surgery with C1 and C2 laminectomy (the bony arches of his top two vertebrae were removed) to make room for his brain.  The thing to note here is that when people with EDS3 have decompression surgery, they also have fusion surgery to stabililize the area. We did not know of the hypermobility when the surgery was done, had we known, the surgeon might not have removed C2?  Decompression surgery is a relatively easy procedure so it is the first surgery of choice for chiari malformation. However, for patients with hypermobility it can open up a whole new can of worms...it can lead to craniocervical instability.

Fast forward to today. What next?  He needs to have a flex-ex dynamic MRI which means they move his head into different positions during the MRI to see how much the odontoid really is pushing on his brain stem.  Then we need to discuss the type of surgery needed. Most likely it is a fusion of his skull to his spine, they do this with plates and screws.  After surgery some mobility is lost but hopefully not too much :(   But, first up is an ophthalmology appointment next week to check on his optic nerve.  Since he has daily headaches, the concern is that he has elevated intra cranial pressure due to the CSF blockage in his spinal canal.  A swollen optic nerve is a sign of elevated pressure. Then in a couple of months another consultation with genetics.

And that is the situation.  We are grateful to be living in the US where there are many "complex chiari" experts and these medical issues are well known.  People come from all over the world for this type of surgery. All we can do now is move on....and educate and advocate!!

MRI - June 2015 - syrinx measures 9mm by 45mm

MRI - May 2016 - odontoid pressing on the brainstem is circled in yellow. Syrinx measures 11mm by 59mm

Syringomyelia - MRI images to explain Auggie's condition

Syringomyelia (SIR-RIN-GO-MY-EE- LIA) is a disease that causes pockets of CSF to form in the spinal canal. These pockets can get bigger and cause obstruction to the flow of CSF fluid and eventually permanent damage to the spine and eventually paralysis if left untreated. Auggie's syringomyelia is caused by an obstruction in his brain. His cerebellum droops down in his brain stem and there is very little CSF flow around the bottom of his brain.  Decompression surgery can help restore this flow by makning more room in the back of his brain. In his case, the two top vertebrae were removed, part of the back of his skull was shaved off and his cerebellum was shrunk using electrocauterization,  The third image shows a rounded cerebellum after it was shrunk and a much smaller syrinx.

 Before surgery, the syrinx (the white fluid-filled pocket in the spinal cord) is about 110 mm long.

 3 months post-op the syrinx is 55 mm long and 12 mm wide

9 months post-op the syrinx is only 45 mm long and 8 mm wide.

Auggie has started Pre-K!

Auggie continues to amaze us!  He started Pre-K a few weeks ago and has adjusted so well.  He was never able to stay at preschool without me by his side, so we were dubious about Pre-K. But, to our amazement, on the first day of school I brought him into the classroom and showed him his desk. As he started playing with playdough and after I said goodbye to him he gave me a kiss and said, "okay, bye mama". Not only that, but he now also takes the bus to school!  It was his idea!  A year ago I never would have thought it possible.

He has an IEP with 2 qualifying conditions: Other Health Impairment is primary and Speech and Language is secondary. His Pre-K class is geared towards children who need help with speech and language. There are nine children and four staff! This gentle introduction to school has been the prefect fit for our little Auggie!  I don't know what will happen after this year, but we have to take it one year at a time and do what's right for him at the moment even if it means having kids at two different schools and at opposite ends of the city!

Chiari malformation, the silent disease that no one has ever heard of

It's Chiari (Kee-r-ee) Malformation and Syringomyelia awareness month and time for a post about Auggie's particular symptoms of this disease.  Even though he was decompressed a year ago he will always have chiari malformation.  The space created in his brain to relieve pressure and allow CSF to flow better is small.  He will never have the same pressure free flow in his brain as the typical person.  He is going to live with this for the rest of his life and some days will be bad, very bad.

Yesterday he complained of a really bad headache at 4 PM, he was in agony. He does not take medicine by mouth and he would have nothing to do with a suppository. At 5 PM he was vomiting from the pain and nausea that the migraine headache was causing. He vomited copious amounts, twice.  He was too nauseous to eat dinner and only managed to drink some of his "milk" before bed.

On most days he complains of foot and leg pain. He says that his feet feel like they have splinters in them. This is pain is probably only going to get worse as he gets older and there is very little at this point that can be done to help him feel better.  Much more research is needed in this area.  Please help spread awareness about this debilitating disease!

Blood coagulation results

Auggie's blood was checked again for various coagulation issues - all of them have improved!!  His platelets are stable at 138,000 - it's on the low end of normal, but stable.  His platelet function test came back normal as well as his CBC numbers. His Factor VII deficiency has improved from 60% to 85%. His PAI-1 improved from 3 to 4, which is still low but not in a dangerous way.  He does not even need to wear a medical ID bracelet and might not need medication before having dental surgery in October.

Hearing loss

Auggie is getting hearing aids! Our new audiologist, contrary to his old one, believes that he could benefit from wearing a hearing aid.  He has bilateral sensorineural hearing loss at 800-2,000 mhz.  We hope our late discovery hasn't affected his speech - we'll be seeing a speech pathologist affiliated with the clinic in a few months - Yes, we have to wait that long!!  He has had speech therapy for 3 years but no one ever thought his hearing was compromised.  It's always good news, bad news on this roller coaster ride.