Brisan and Parker Stults | Living with Niemann-Pick Type C

Brisan Stults' Autopsy

Did you play the drum roll sound in your head? June 30th we had our meeting regarding the Autopsy of Brisan with CMH. That meeting consisted of a handful of individuals who cared for him that night and also who have been involved with our family in various manners.

Another step in the grieving process as that day approached. 16 weeks that vary day Brisan went to CMH in a blazing fast ambulance ride. Matter of fact… seeing an ambulance running “hot”… takes on a new meaning for us. Flashbacks of me watching them pull out of the drive way thinking to myself “there aren't too many more of these rides he is going to leave and come back” and for Jenn, experiencing the “ride” down there when CMH said “get here fast”. We live about 25 mins or so from the hospital.

Arriving

As we put on our big boy “pants” and pulled into the parking garage not saying much to each other because of the tension we already felt of having to relive the night. The fear of what the answers may be and even the fear of not having any answers at all. Typically they aren't going to do an autopsy for kids with a rare disease like this. You know why they past away for the most part but not Brisan. Didn't seem to make sense although he was battered with Niemann-Pick Type C, there was something else that propelled him into his homecoming.

The Meeting

Over 2 hours we spent in that room going over how we have been, specifics of the report, and what can we do regarding Parker, our Mr. Stinky. Emotions ran high at times and other times we kept a calm outwardly approach in presentation of our feelings. Many tears were shed on different levels. The staff at CMH was nothing but professional with a huge vulnerability of wanting to know how we were; to cater towards how they can help us moving forward.

A few items we wanted to clear up was did he bleed internally? Did he have an issue from his Ileostomy surgery this past January? Did his red blood cells just “destroy” themselves in a rare occurrence? I mean, we are talking about Brisan here. Bubbas never did many things to the “normal”. He went from one extreme to another and he pulled out of those. We purely have to give God glory and thanks for those triumphs. A part of us was really worried March 3rd but Brisan had proven that we may just need that 2-3 week hospital stay to get feeling better.

Jenn was referencing at one point that Brisan past awayed 9 days before my birthday and I don't know why that was so impactful to me at that time but I nearly lost it. I pushed back my chair, head towards the ground while I tried to gather myself. That rush felt like an avalanche taking place racing up the top layer of my skin to the back of my eyes.

Autopsy Findings

The meeting & 13 pages later, internal bleeding was ruled out along with any issues with his Ileostomy site. That was a relief (???). One remark was “we can tell that Brisan was very well taken care of”. It was a nice compliment but on the other hand, we'd like to have Brisan here to love on him. All fairness, he is getting more love than we could ever offer him physically.

Fat Embolism Syndrome was discovered BUT it is ruled inconclusive for the fact they don't know what trigger the event. So what is this?

Definition of Fat embolism: A process by which fat tissue passes into the bloodstream and lodges within a blood vessel. In general, an embolus is something that travels through the bloodstream, lodges in a blood vessel, and blocks it. A fat embolus is a fat particle or droplet that travels through the circulation and eventually blocks a blood vessel. Fat emboli tend to be small and multiple, causing numerous signs and symptoms. (www.medterms.com)

Autopsy Snippet:

Fat embolism syndrome is a rare condition that occurs when the embolic fat material passes into the small capillaries in the lung, producing an endothelial damage and resulting respiratory failure, cerebral dysfunction and possibly petechial rash. This syndrome usually follows closed facture of long bones. There are other conditions that might cause this syndrome including orthopedic procedure, massive soft tissue injury, liposuction procedure, osteomyelitis, fatty liver and conditions causing bone marrow infarcts, especially sickle cell disease. The combined clinical course and the histological findings in this child highly suggest fat embolism syndrome. However, the source of the lipid in the blood circulation, the timing when the lipid material was released inot the blood and the trigger for the fat release in this patient remain unclear. A review of literature reveals autopsy report of fat embolism syndrome in a patient with Fabry’s disease (3). Considering that lipid stain of autopsy material is not routinely performed, it is likely the incidence of fat embolism syndrome in patients with lipid storage disease is underreported. The advanced Niemann Pick disease with lipid accumulation in the spleen, liver, and bone marrow in this child could be the predisposing condition for the development of fat embolism syndrome. The presence of bone marrow emboli could be secondary to chest compressions during medical resuscitation in PICU or as part of the fat embolism syndrome. ……………………………. In summary, the underlying cause of death of this patient is advanced Niemann-Pick disease type C with diffuse visceral involvement, most significantly in the brain, spleen, liver and bone marrow. The immediate cause of death is most likely fat embolism syndrome. The mechanism of death is respiratory failure.

To some degree, when Brisan went into septic shock in the past those 3-4 times… were these mini episodes of this and the body was able to “filter” that fat out of his blood? More questions to say the least. They don't usually do a full blood work up looking for free fat lipids on a normal basis.

What could we have done differently if we had known?

They clearly were doing what they could which is support the heart and lungs during the process. The body naturally has to “filter” the fat out and unclog itself. Doesn't make knowing any better but the question had to be asked. The only “trick” was bipass machine one doctor stated. Even at that she said was a stretch considering his condition. I also asked how likely is it that when you go to intabate someone… they code? She stated that just doesn't happen.

What can we do for Parker knowing this about Bri?

We determined that when Parker has to go in that we will request a full work up and direct them to read the critical notes on Parker's account referencing Brisan. We have a few future appointments with HEMOC where we will discuss in more details.

So, What Now?

Great question. This post could have been really long.