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.