Friday, September 30, 2011
Thursday, September 29, 2011
Ortho and GHD
This morning we went to the Pediatric Ortho and it looks like we are going to move forward with the surgeries to remove Nathan's extra digits. Due to the fact that he is older and bigger now, the Surgeon wants to do one digit at a time. Initially, we were going to do both hands, then a few months later do both feet. But, because he'll be in casts, the Dr doesn't want to "cripple him up" While I understand this, I am nervous about putting Nathan to sleep 4 separate times. I'll be a wreck. I'm supposed to call the scheduler on Tuesday. I don't know how quick they'll get this started, but very soon, Nathan will have one less toe......awwww.
I do feel good about this. I've been anticipating this since he was born. We're ready and I'm prepared to play nurse. :)
On another note, the 30th of this month The Magic Foundation is (http://www.magicfoundation.org) launching a "Children's Growth Awareness Day" So many people think being growth hormone deficient only effects your size, but in reality it effects your health in many ways. We need GH to grow our organs as well! Not having GH therapy can lead to all sorts of health problems. Catching and treating GHD early is imperative! I'm proud of this of course. We didn't even think of being GHD as a possibility with Nathan. We just thought him having EvC was the culprit to him not growing. I thank our geneticist for finding a study of some EvC children who had turned out GHD and he urged us to get Nathan tested. So thankful we did!
Nathan still hates his shots everynight (I would too!) But he's certainly getting better at taking them. He's especially calm when he wears his batman costume. I think he thinks he actually IS batman :)
I do feel good about this. I've been anticipating this since he was born. We're ready and I'm prepared to play nurse. :)
On another note, the 30th of this month The Magic Foundation is (http://www.magicfoundation.org) launching a "Children's Growth Awareness Day" So many people think being growth hormone deficient only effects your size, but in reality it effects your health in many ways. We need GH to grow our organs as well! Not having GH therapy can lead to all sorts of health problems. Catching and treating GHD early is imperative! I'm proud of this of course. We didn't even think of being GHD as a possibility with Nathan. We just thought him having EvC was the culprit to him not growing. I thank our geneticist for finding a study of some EvC children who had turned out GHD and he urged us to get Nathan tested. So thankful we did!
Nathan still hates his shots everynight (I would too!) But he's certainly getting better at taking them. He's especially calm when he wears his batman costume. I think he thinks he actually IS batman :)
Monday, September 12, 2011
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!
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!
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