Our DNA scavenger hunt

A friend of Ted's family is a doctor and was a leading SIDS researcher in the 70s and 80s.  When Ted received a copy of Max's autopsy report from the coroner's office, he sent the report to his mom to give to the friend.  The friend reviewed the report and called to let my in-laws know that he felt one of the findings in the report was something that we should look further into.  This finding was that Max apparently had a fatty liver, not something commonly seen in a nine month old baby.  He believes that this might be suggestive of some kind of metabolic disorder.  Thus began the wild goose chase that we have been on for the last few weeks.

I called my mom, who called her friend who is an oncologist at Kaiser who called her friend who...I don't know, led us to a geneticist at UCLA.  I also got to the same geneticist through my mom's other friend, who is a hand specialist at children's hospital, who put me in touch with an endocrinologist, who put me in touch with the UCLA doctor.  My doctor also put me in touch with his colleague who is a geneticist at Cedars, who put me in touch with a metabolic specialist.  Through many discussions and emails (though I am sure it isn't even 1/8th of what is to come), I have learned some potentially scary things....about some very expensive tests that need to be done, about the success rate of these tests and whether we could actually pinpoint the disorder (less than 50%), about the possibility of Ted and I both being carriers of some rare genetic disorder, about the potential for our future children to end up with the same disorder. I haven't had much peace of mind lately (as if I ever do anymore anyway).  We have experienced some real lows and lowers in the last few weeks....with a few momentary highs sprinkled in (when I say "highs"....I mean, getting a phone number, making contact, hearing new theories that are less scary).  One of the worst parts for Ted especially has been trying to get information out of the coroner who performed Max's autopsy. I am sure it won't surprise you to hear that he is a very cold, robotic man.  He answers questions in one word.  He holds on to information like it is gold, he never puts out a real conclusion (assuming he is worried about being held to it).  I can't figure out why the hell we needed to have an autopsy done if the coroner cannot give us any idea as to what he thinks happened.  You, as the parent, need to then take the report and try to find people who can interpret it and believe me when I tell you, no two people come back to you with the same conclusions.  Additionally, he is only holding on to Max's specimens for a year (so, until July), which means we have to have all testing done by then...even though we didn't get his report back until December 31st!!!!  Happy New Year to us!  This is the guy who performs autopsies on most of the children in Los Angeles County.  The thought sends shivers up my spine.  I can't imagine a more vulnerable population to have to work with such an uncaring dude.

Getting to the bottom of what happened to Max is really important for our plans to have more children.  Perhaps we might find that Max had a disorder that can be tested for (though there are hundreds that apparently cannot be tested for).  Perhaps that disorder can be treated (though that isn't a guarantee either).  Then, we could test future babies for that same disorder and hopefully treat it.  I know I speak for Ted and I both by saying that would be the best case scenario and still it would CUT us to the core knowing that Max had a disorder, that if found, could have been treated.  Actually, the BEST case scenario would be that we test future babies and find that they don't have the disorder.  The more likely scenario is that we will spend thousands of dollars on genetic testing and maybe find out a whole bunch of disorders that we are potentially carriers for, become even more scared, and not ever pinpoint what happened to our sweet pea.

You can ask me all the questions you want and I may or may not write back with any detailed descriptions.  It is incredibly overwhelming actually.  Though I will say that I suddenly sound like an expert on fatty acid metabolic disorders, something I hadn't even heard of until now.  All I know for sure is this - becoming a parent, having my life go from really nice to totally awesome and unbelievable and then losing my baby baby and having it turn into misery and horror, has been a complete nightmare.  Once I get to be a parent again, I NEVER want to have to go through this again.  I want to become a parent and then stay one for the REST OF MY LIFE.  (and ya, I know I am a parent to a baby in heaven - but I actually want to do the parenting on earth thing.....believe it or not).  I will do everything in my power to ensure that any future babies stay alive (of COURSE, I did that with Max also).

And, listen, I know I stepped RIGHT into this one - BUT - when Major General Doron Almog, who has lost a brother, two children, and five family members, in addition to the "usual" losses of a father and both in-laws, advises me to concentrate on the living - it is sound advice that sounds cold and very difficult to actually do.  When a girlfriend with two living parents and 2-3 living children gives me the same advice, it makes my face turn red and my insides bust open, and I about turn into the Incredible Hulk...complete with the monster anger and green with envy bit.  But, since I am trying (oh lord it is hard) to stay "positive", I can appreciate that you always mean well.  And, I KNOW you DO mean well.  So, thank you for echoing the sound advice.


Peter Howard said...

Oh, I totally understand where you are coming from. In the beginning, when I started researching things with Toby people would say to me that it was just part of the grieving stage and that once I moved into acceptance I would no longer search for answers. My argument is that I already have a living child and was pregnant with another one. If there was something wrong that could possibly be genetic I wanted to ensure their safety.

I might have been right, too. Toby, Sam, and Iris all had to have their newborn screening tests repeated because they tested borderline for an extremely rare genetic disorder called biotinidase deficiency. If left untreated it eventually causes strokes, seizures, coma, and death in infants. Toby never had his test repeated. Iris has the defiency and is on lifelong treatment for it. We will never know if he had it but there is a strong possibility he did. Unfortunately, because it's so rare, the autopsy report did not look for it. The real kicker is that although it's very dangerous, it's easily treated with an over-the-counter vitamin (Biotin) that we had in the house. So if he DID have it then we had the thing to "save" him right in our kitchen.

Knowing this did NOT make me feel bad. Regretful, yeah, but it's so rare how the heck were we supposed to know it? Seriously, there are only 3 cases of this in our state.

There is NOTHING wrong with what you are doing. We're not talking about an illness or inconvence-our babies died. Of course we want to know that it won't happen in the future! I think that's natural and part of being a good parent. Your story, though, and Toby's makes me think even further that SIDS might not be just one thing but rather a lot of little (rare) disorders that might all end up in the same manner-instant death. Not helpful, but would explain some things.

We had a very good geneticist that not only worked with us and Iris but also answered questions about Toby. I'm very glad she took us seriously because the brain damage the deficnency can cause happens if the baby is not treated by 3 months of age. We saw her when Iris was 5 weeks and she jumped right on it. If I had listened to other people and figured that my paranoia was part of my grieving process then Iris might not be here, either.

Tallie Fishburne said...

Abby and Ted, I am so so sorry that you are becoming experts on this, that you are deep into the research and that even if this eventually leads to an "explanation", it still makes no sense at all that sweet Maxie was taken too early. I love you ... the old you, the new you, and every iteration in the future. xoxoxox

mrossi said...

I totally understand your frustration about the "powers" withholding info. I can't get the police report from my father's death because the case will always remain open. The coroner, despite all evidence, felt that suicide had the highest burden of proof. Thus, she classified the death as "undetermined." Thete was some minor and questionable report that calls into question if anyone was in his apt. Within the 7-10days before he was found. In addition, no one can seem to understand why I even want these documents in the first plavr and that is just as frustrating. This is an unexplained (in a different sense, I know), unexpected death of my loved one. I can't prevent anything- but doesn't it make sense I would want to turn over every damn stone to find meaning or understanding? I too, wonder why pe_ople which should be experts in this area would not be more understanding. They've
developed a callous I guess...