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!


Instant Gratification

So far, your surgeries have been almost instant gratification.  At least, as close to “instant” as you can get when we’re talking about surgery.  Your tethered cord surgery was on January 9th, and less than 1 month later, it is like you are a different baby.  A list of the changes so far:

  • you are more flexible
  • you can sit with your legs bent to the sides, instead of almost straight out in front of you
  • you can sit for a very long period of time since you are so much more stable
  • the scoliosis in your mid/upper back looks visibly straighter
  • I think you have less pain and discomfort

The last one I’m really not sure about.  I think you were having some pain, and it hurts me so much to realize that.  You’d become very fussy during the 2 months before your surgery.  It makes me second guess why we didn’t postpone your lip surgery to do the back surgery first.  I don’t think any of the doctors even suggested this.  But I know it *was* a possibility, had we asked, and my instincts were freaking out a bit about postponing the tethered cord surgery for so long.