Meeting with the Interventional Neuroradiologist

Dec 31, 2014 --Today we got to spend the last day of a tough 2014 learning more about our baby girl's future.  First the day started with another standard visit to the high risk doctors for an ultrasound check-up.  Because of the holiday we saw yet another new doctor but this doctor went on to exclaim how happy our little girl looked in the womb because of how much she is practice breathing and moving around. 

We then traveled to Emory to meet with Dr. Jacques Dion.  He comes highly regarded as having the most experience in the Atlanta area with working with these types of issues in babies. He has treated 50-60 babies in his career.  This number seems low but that is because these types of conditions are so very rare in babies.  The doctors that Heath works with know Dr. Dion personally and also have nothing but wonderful things to say about how skilled he is as a surgeon and how down-to-earth he is as a person.  Heath and I did feel that he was very caring and very willing to spend as much time as we needed with him.

He told us that based on the MRI the baby does not appear to have a Vein of Galen malformation.  This is a condition he has the most experience treating but he reassured us that our baby's vascular issues are much more manageable than a Vein of Galen.  He explain that the Pial fistual should be relatively easy to repair from his surgical stand-point and could likely be fixed with 1-2 operations only.  His surgical techniques include using wires and catheters that enter the baby in the femoral arteries (groin) and then travel to the brain where the problem can be treated with coils and/or glue.  This operation has some inherent risks for a baby and in general. The risks include:

•        perforation of the blood vessels by the wires anywhere from the groin to the brain with subsequent internal bleeding
•        stunting of leg growth secondary to entering the vessels at that groin region
•       blood clots forming from the intervention and traveling to areas of the body that would cause severe injury (stroke, heart attack, pulmonary embolism, etc)
•        potential for hemorrhaging in the brain due to the change in pressures once the problem has been fixed (think of it like removing a dam from a river and the banks downstream cannot hold the new rush of water).  This type of complication would then need to be surgically addressed by a pediatric neurosurgeon in order to preserve the brain.
•      Overall, risk of morbidity and mortality of performing this procedure on a stable baby is 10-20%

There might be some other risks but those are what I can remember off the top of my head.

Overall, Dr. Dion would like the baby to be at least 6 months old before he would need to operate.  The reason for this is primarily size and maturation reasons.  The earlier intervention would need to be performed the smaller the blood vessels are and the less muscular thickness of the vessels (therefore easier to perforate).  Also the smaller the baby is the harder it will be for her to manage the fluids used in the procedure and the less radiology they can use to complete the procedure.  The younger the baby is the higher the risks for morbidity and mortality are (from 20-50% risks).  Dr. Dion noted that our daughter could be born at full-term with manageable heart issues but during the first few months of her life her condition could worsen to force the surgery prior to 6 months of age.  These complications include:

•  the inability to maintain stable heart conditions, 
• inability to thrive
• severe developmental delays and/or
• calcification between the white and gray matter in the brain (which is a symptom of ongoing damage to the brain which would be detrimental to her development).

These types of conditions can have implications about her quality of life despite intervention and at which point Heath and I would have to decide whether intervening so young is worth those risks.  
 
While Heath and I were able to walk away from this meeting feeling confident in Dr. Dion's abilities and plan of care we still have a ton of what-if's to be determined that will play a huge factor in how well our daughter does.  So it continues to be a waiting game to see how strong our girl can be and how damaged her brain actually is.

Going forward, Dr. Dion has no desire to deliver early and would like to see her go as close to full term as possible.  Therefore, our Maternal Fetal Medicine Doctor and my OB will continue to determine how well our girl is doing in-utero and decide if her condition worsens and needs to be delivered prematurely.  If she is delivered early it will be imperative that the neonatal team is able to stabilize her condition, particularly if she is in heart failure at time of birth.  If the team is unable to control or stabilize her heart failure then the surgical intervention by Dr. Dion will need to occur immediately for her survival.  There is the risk that our girl could go to full term without any concerns prior to delivery but once she has to start functioning on her own, her heart could go into unmanageable heart failure.  This is because the placenta is currently helping her to manage the excessive blood flow and prevent all of the pressure from overwhelming her heart.  Dr. Dion feels that of all of the types of malformations possible in the brain, her type is the least likely to cause her to go into heart failure at birth.  Dr. Dion felt that it was important for the baby girl to be delivered at and treated by the NICU team at Egleston (our children's hospital in the heart of downtown Atlanta, next to Emory).  What Dr. Dion didn't realize though is that there is no delivering capabilities at the children's hospital or Emory.  Therefore, there is no close hospital to deliver at and transfer would be required.  Dr. Dion implied that having to transfer the baby from any location, albeit necessary, would not be ideal for the baby's potential outcome because of the stress on the baby.  This has caused much angst for us as we do not know where to deliver the baby then.  We want to feel that the NICU team is highly capable of managing a unique situation like ours correctly and quickly, therefore eliminating the need for an emergent transfer.  We still need to consult with most of our doctors to figure out what hospital and NICU center is the best option for us.  This is a scary decision with a lot of responsibility placed on our shoulders.

Heath and I also learned more about the Polymicrogyria that our daughter has been diagnosed with per MRI.  We were under the impression that the vessel issue had caused this damage to the brain and was potentially worsening with time.  Dr. Dion informed us that the polymicrogyria is actually a completely separate issue from the Pial AV Fistula.  This has frightened the hell out of us because while the vascular issues can be managed relatively well, this condition is going to be more telling about her overall quality of life.  Unfortunately, Dr. Dion was not able to elaborate on that condition as it is not vascular in nature and therefore not his area of expertise.  We meet with a Pediatric Neurosurgeon on Jan 8th and are very hopeful that this physician will be able to shed more light on the polymicrogyria condition for us.  Since we don't know much about it from our physicians I have of course started googling it and am very overwhelmed by the findings. 
The general outcomes I have found sound like this:
          "There are several different forms of PMG. Common problems associated with PMG in general are: swallowing and speech difficulties, reflux, seizures of varying degrees (about 90% are affected with seizures), developmental delays, lack of muscle coordination, impaired mental cognition of varying degrees, and cerebral palsy-but there can be many others.  These impairments can range from very mild to very severe dependent on how much area and what area of the brain are involved"

As you can imagine that broad definition and broad spectrum leaves us feeling very frightened for what is to come and I believe we will never know the true extent until she is growing and developing and her limitations present themselves.  What I cannot wrap my brain around is the fact that she will very likely require many interventions including a lot of medication (for heart and/or brain), physical therapy, occupational therapy, speech therapy, specialty devices and orthotics in any or all capacities.  We are likely looking at requiring early intervention through the school program with IEPs and such in the future.  While I am a physical therapist and have some awareness of this type of lifestyle, it is not something I imagined having to go through myself and still cannot accept the reality of it all.  Of course, Heath and I will take on all challenges and provide the very best medical services we can for our baby girl, I just don't think either of us have really, truly been able to picture our future with our daughter going through all of that.  We still hold onto the hope and desire of bringing home a stable and relatively healthy little girl that is a tremendous fighter and proves to have very few symptoms at all.  We can mentally prepare for the need for surgical intervention around 6 months of age to completely resolves her vascular issues.  But what we can't yet wrap our brains around is all of the other interventions and challenges that are yet to present themselves.  We are trying our best to accept this reality though so that we are better prepared for a completely different type of life-style in raising our daughter.

Heath and I go forward today to ring in the New Year with prayer and hope that our baby girl will overcome the diagnoses and prove to be a tremendous fighter.  We pray that the new year will come with better news as we continue to meet with specialists and prepare for bringing our baby girl into this world.

We hope every one of you had a wonderful and fun New Year's Eve (at least those that could stay up that late...midnight is tough for a pregnant girl to achieve but I did it)!!  Onto 2015 with high hopes and blankets of prayers.