Misled

"I  know you have been told up to this point that Dylan's MRI was normal, but unfortunately you've been misled."

Ouch.

Today was our appointment with Dr. Lim, a Pediatric Neurologist at St. Vincent Hospital.  I was terrified of the appointment and what new information we might find out.  I kept trying to reassure myself that Dr. Lim could very well tell us that we shouldn't be worried about Dylan's future, and that all the drama over the past two months was just a big misunderstanding, but deep down in my gut I was scared to death that she would reveal something new.  Unfortunately on this one, my gut was right

She started the appointment by asking a few questions about my pregnancy and Dylan's birth.  She was specifically interested in whether or not he was born premature, and although I assured her that he was born full term, she asked a couple more times if I was sure we had all the dates correct.  After typing a few notes into her computer, she turned to Brian and me, paused with a deep sigh, and gave us the devastating revelation:

"I  know you have been told up to this point that Dylan's MRI was normal, but unfortunately you've been misled."

It felt like the room was spinning out of control as I tried to interpret what she was telling us.  Everything that we knew up to this point was based on the assumption that Dylan's MRI, taken fifteen hours after he was born, was normal.  We had been told that his "brain architecture", or structural elements, had all developed properly, and that the only concern was the size.  The normal MRI was used to diagnose Dylan with Primary Recessive Autosomal Microcephaly, which meant that he would have intellectual disabilities but no other developmental problems.  The normal MRI was what we kept clinging to as a glimmer of hope.

But we had been misled.

In reality, Dylan's brain never developed properly.  At birth, a "normal" newborn's brain is covered in ridges.  Dylan's brain, however, has far fewer ridges than should be expected.  Somehow, when the MRI was originally read, the doctor who wrote the report neglected to mention that this malformation was present. Dr. Lim said that when she first opened Dylan's MRI, she thought for sure that it was an image taken of a severely premature baby, because it appeared that development had stopped at a certain point early in the pregnancy.  But since all chart notes indicated that Dylan was full term, she had come to the conclusion that he has a malformed brain, likely caused by a genetic disorder.

So basically, with this new information, what we know now is far less than what we thought we knew yesterday.

Dr. Lim had no clues for us as to what we can expect developmentally from Dylan.  The basic indication is that likely there are pieces of his brain that are missing or never grew properly.  We won't know what areas he will struggle with until we get further into his development and actually SEE him struggling.  However, his potential for development problems are no longer limited to only the intellectual realm.  This new information could mean that Dylan has much different problems than we originally anticipated.  Not necessarily better or worse, but different.

Our next step is to schedule an appointment with a Pediatric Neurologist at OHSU, who is the expert in Portland on brain malformations.  He will help us with further genetic testing and research to determine what caused Dylan's brain to develop as it did.  Another specialist.  Another appointment to stress out about.  Another opportunity for an unexpected diagnosis to throw us onto a whole new course.  Ugh.

On the issue of the plates in Dylan's head fusing prematurely, Dr. Lim agreed that we had reason to be concerned.  She thought that his head felt very smooth and didn't have the typical ridges that can be felt between plates at this stage of development.  She also didn't have any explanation as to why he would have been born without a fontanelle (soft spot).  She ordered an X-ray of Dylan's head, which we were able to get done this afternoon, and hopefully we will have the results by the end of this week.  (Unfortunately poor Dylan screamed his little head off throughout the entire X-ray.  I'm pretty sure he was about as tired of being at the hospital as I was!)

So, at this point we are left with a TON of questions, and not many answers.  What we thought we knew before has all been negated with this new information, and we don't really even have enough of a diagnosis right now to do new research on what to expect!  I guess this whole "wait and see" game continues, with no end in sight.  My hope and prayer is that we are able to witness Dylan defying all of the odds and proving "them" wrong.  These specialists are only people, and they have no way of accurately predicting the future.  Even though we have been told that Dylan's brain is malformed, no one can tell us that he isn't capable of overcoming the challenges associated with that discovery. As I've said before, I am fully prepared to be amazed by this kid.