Ellis Van Creveld

Three years ago yesterday Nathan came into this world.  A few weeks prior to that, the Drs noticed something was wrong with his legs in the ultrasound.  We went to the US genetics specialist, and he thought that most likely, he had short legs because his Dad and I both have short legs.  Nothing else came up on ultrasounds, and I had many!!!  Nevertheless, the stress of all the Drs and ultrasounds and wondering if there really was something wrong with my precious, sent me into labor a month early.  Something I didn't even know was happening since my labor with Logan was pitocin labor....natural labor is so much nicer!

Anyway, I won't go into the labor and delivery details.  Nathan was born via C-section late at night on Sept 9th.  Once he was born, the nurse showed me one arm, and one leg and let me kiss him, but then he was carried away to the NICU...he wasn't crying much and was having a little trouble breathing.  I sent Matthew with her.

The next day, one of the NICU Drs came in to tell me the initial diagnosis.  Ellis Van Creveld Syndrome.  She rattles off all the different things that can happen with EvC, and it's all a blur.  All I remember is "cardiovascular and respiratory problems" oh and "anomoly of the kidney" because I had no idea what that was.  Here are a few links about EvC:

  http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome

http://ellisvancreveld.co.uk/evc/description.htm

Just 3 years ago when Nathan was born, there really wasn't much on the internet about this syndrome.  It was such a scary time for us.  Nathan spent almost 4 weeks in NICU, because he wasn't gaining any weight...it was awful.   Now that I know what I know, he didn't gain weight because EvC is a form of dwarfism, and he is also growth hormone deficient!!!  (more on that later) so naturally he grows slower.  He was still 6.5 pounds...certainly big enough to send home.  Ugh, frustration!

Anyway, of all the symptoms you can read about with EvC, Nathan has 6 fingers on each hand and 6 toes on each foot, a narrow chest, long torso, short limbs, anomoly of the kidney (which just means a slight twist or turn, nothing dangerous.) and he also had a hole in his heart, which completely closed up by 1 year old.  And, he's CUTE CUTE CUTE!!!  I remember that first year was tough...not knowing how Nathan would grow, if he'd breathe ok, if his heart would heal.  I was not my normal self.

But, today...you'd never even know we went through all that.  Nathan is the healthiest little thing!  Never sick, has had an ear infection 2 times I think, and that's it.   He suffers from seasonal allergies, but we all do in this house.  Basically, this syndrome has not been a hindrance,  other than the fact that one day we will remove those fingers and toes.  Dreading that!  Oh, and recently we learned he is Growth Hormone Deficient, which I have to believe is because of the EvC.  And, now we have to do GH replacement therapy which is a stinky SHOT every day.  Poo!