Our meeting with the geneticists

Ted, my mom and I met with the geneticists yesterday afternoon.  What I won't be able to do in this post is to clearly tell you what we learned.  The meeting went better than I thought it would - the findings were more complex than devastating and certainly left a lot of questions unanswered.  What they did find was that Max was a carrier of a rare genetic fatty metabolic oxidation disorder.  They found that Ted has the same mutation.  What that means is confusing.  Max was a carrier.  He did not have the disorder.  In other words, he had one mutated gene - not two.  As a carrier, he should have been totally unaffected by this disorder.  They are currently retesting that set of genes in Max to see if the second gene might have had a hidden mutation that didn't show up in the testing.  If he did, however, the geneticists can't explain why it wouldn't have shown up in Max's newborn screening.  Also, the disorder usually presents itself in several ways that it did not present itself in Max. They didn't find the mutated gene in me but wondered aloud if the test failed to find something hidden in my DNA as well.  They may restest my blood sample as well.

There are several hypotheses about what may have happened, but they are all just guesses really - perhaps there was something in his physical environment that could have ignited the disorder: The geneticists likened this to sickle cell anemia, where carriers are sometimes affected even though they only have one mutated gene.  He gave the example of airline pilots who are sickle cell carriers and said that sometimes the altitude changes cause a presentation of the disorder in carriers.  Similarly, leading SIDS researchers don't know why the risk factors (tummy sleeping, co-sleeping, parental smoking, temperature) result in death for some babies and not others.  It is possible that they have a rare mutation in their brain stem or someplace else that only causes death under certain environmental conditions.  Another hypothesis is that there might be other genetic mutations that are considered "promoters" of the disorder in carriers of this particular fatty acid oxidation disorder.  If that were the case, we won't really know as the field of genetics hasn't come far enough with regard to this specific disorder to understand this.  The last hypothesis I will list is that Max's death may have had nothing to do with his being a carrier for this disorder.  That he died of "SIDS" and also happened to be a carrier of this metabolic disorder may have been a strange coincidence.

I know it doesn't make sense and it doesn't really bring us much closure but I think there were a few positive take aways.  One is that they are going to be extra vigilant in testing Baby M for this disorder.  In addition to the newborn screen, they will do extra sampling to test him.  If he is found to be affected by the disorder, there are treatments.  What scared me MOST over the last week was that I spent hours online looking up this disorder and everything I found basically said that there were no treatments - as it turns out, there are ways to treat individuals with the disorder - even though none of them is a "cure".  Also, I think there are two ways of looking at the results.  One is really scary and one is reassuring.  I am choosing the more reassuring approach for now.  The scary way of looking at it is that Maxie may have died suddenly from a disorder that he didn't even have - that he is only a carrier of.  Since Baby M has a 50% chance of also being a carrier (if I am indeed a carrier in addition to Ted), the disorder may present itself without warning again.  I am choosing to chuck that fear for now (but you never know with me when it may resurface).  The other way of looking at it is that none of it really makes any sense.  That whatever happened was so statistically rare and so outside the bounds of the way this disorder would ever present itself that the chances of it happening again have to be miniscule.  I am choosing to believe that.

Obviously, the whole process still leaves me totally without closure with regard to what happened to Maxie.  It still does nothing to explain why I am not feeding my baby breakfast right now.  That part is incredibly frustrating and so heartbreaking but it is a frustration and heartbreak that I am getting used to....and I do not say that lightly as I broken to the core that I lost a child - that I lost my baby - that I lost Max - the person that I loved most on this earth - the person that I had the most hopes and dreams for - the person who has meant more to us that anyone.  Getting used to the idea that your most beloved is gone is a slap in the face.  Honestly.  But, it is what it is.  Feeling a bit of hope again for his little brother is a relief for now.


Egreeno said...

I wish you had more answers but I agree with your approach to chose this as positive news and allow yourself some very well deserved relief from some of the worry about baby M. Thanks so much for the update - I've been thinking SO much about your whole family this week! Love to you and Ted and Maxie and Baby M!

jessica said...

What a complicated, confusing and scary world you guys find yourselves living in. I'm sorry that you have to navigate through all of this while trying to survive the loss of your most precious boy. The worry on top of the heartache is too much for anyone to have to bear. I am so, so sorry about that. I am glad that there is a little bit of hope and a little bit of relief. I wish you had the closure that you seek, and that you never had to seek it in the first place, but the positive takeaways are good. Sending you, Teddy, Maxie and Baby M lots of love. xo