Genetics Update

Miss M’s latest genetic test was negative, meaning they didn’t find a mutation in the specific gene they sequenced (GDF6), so they still have not found a genetic cause for her Klippel-Feil syndrome.  There is one other genetic mutation (GDF3) which has been associated with KFS, but clinical testing for this is not available in the US.  And, of course, there are likely many unknown genetic mutations which could lead to KFS.

Our only other option for genetic testing right now would be to do whole exome sequencing.  Since KFS is pretty well defined as her “diagnosis”, there is really no pressing need to do further genetic testing so we will probably just keep that in mind for some point in the future when the tests are better and less expensive, just for her own peace of mind.


The grief pit

Some days I still feel like I can’t climb out of the pit of grief.  Instead, I dive into it, using blogs, facebook, scifinder (yes, I am a scientist!), other internet resources to seek out more information about Klippel-Feil syndrome, about parenting children with special needs, about how to do this.  And I find amazing things on some days.  Today, I found another mom to toddler baby girl with an even rarer genetic condition which caused congenital structural deformities.  I glanced around her blog, surprised to see some of the same topics I’ve posted on here.  Wow.  We’ve had some of the same experiences.  Fantastic!  Ok, not fantastic, but you know what I mean.  I also did some looking into the genetic tests that are being ordered at your next surgery.

But somehow, after indulging myself, letting myself do a little “mom of a child with extra medical needs”, I just feel sick afterwards.  Like I’ve had 3 too many glasses of wine.  Too much, too fast.   It sure was “fun” while I was doing it, but where did those two potentially productive hours go?  I shouldn’t even have those two hours to spare – web surfing while my kids are at daycare.  Let’s not even talk about the work I’m supposed to be doing.  So I get this lovely combination of emotional overload, due to the nature of what I am browsing, and guilt, due to feeling like I have so many more important things I need to be doing.

This happens often on days when I spend part of my normal working hours with Miss M at a medical appointment.  Today it was Early Intervention.  Two hours of discussion of your milestones, your goals – should be every mother of young baby’s goal and dream in life!  Instead, even though you are doing great, it just ends up leaving me drained, with the subprocess running in overdrive.


We’re all related

I’m beginning to feel like a total genetic FAIL has occurred in my lineage.  Maybe someday we’ll figure out why.  If we do, I don’t think it will be any thanks to our current geneticist, who told me in all seriousness at our last appointment that folic acid supplements would not fix Miss M.  Reeaaallly.  No, incredibly intelligent woman who has totally lost touch with reality, I’m well aware that a dietary supplement will not change Miss M’s structural congenital defects.  I’m not an idiot.  I was trying to ask whether there was some chemical processing deficiency on my part (and my mother’s part) which led to my congenital cleft lip (2 surgeries), my only sister’s congenital club feet and femoral anteversion (4 surgeries), and now Miss M’s KFS (2 surgeries and counting).  For the record, I took ~4 mg/day of folic acid at least 3 months prior to, and during the first 2 trimesters of, both my pregnancies (these types of congenital defects occur during the first 6-12 weeks of pregnancy).  My son doesn’t appear to be affected.  So it’s just us lucky ladies in the family!

My sister, who will be 39 years old this summer,  found out yesterday that she has yet another congenital issue – a specialist has diagnosed her with distal muscular dystrophy.  Ironically, you, Miss M, started her on this search to find answers to explain the muscle weakness in her legs, which has affected her since childhood.  Now she has a motivation to join a gym again!

Families have a way of creating stories to explain “how things are”.  My parents generated many stories.  One of them was that my sister’s leg weakness was because of her surgeries on her legs.  I don’t know if a doctor ever told them this, or not.   But that was their story, and they were sticking to it.  I’d love to be a fly on the wall this weekend when my sister finally reveals this information to my parents in person – she’s been keeping them out of the loop until she had some actual information on her condition.

Also ironically, our geneticist with the terrible bedside manner was the one who woke me up to the fact that our family story was not true.  At our last appointment, she asked if my sister had ever had an MRI.  Total lightbulb moment.  She didn’t even know that my sister has leg weakness (a possible symptom of a tethered cord), I had just reported her club feet and leg structural issues in our initial medical history, believing the family story that the rest was just a result of that.  In an instant, I immediately realized – that’s not right.  Sister does have something else going on.  Maybe she could have an undiagnosed tethered cord?  I called her that evening, and she had the same lightbulb moment and realized she needed to figure out what this was.  About 6 weeks later, she finally has an answer – not necessary the answer we expected, but an answer nevertheless.

And…I’m left with even more questions.  The genetics journey* is still at its start.  How in the world could 3 members of my family have seemingly unrelated congenital defects?  I hope there is someone out there who can help us find out.

* another funny story about our geneticist – when we tried to ask questions about Miss M’s KFS at our first appointments, she took a deep breath, kind of sighed, and said, “think of this as a journey”.  I’m not a violent person, but it took a heck of a lot of willpower to not slap her!