Lillian's first beach experience
"Don't block my sun!"
"I think there's sand in my diaper"
(That *might* be boxed wine next to my leg...)
Toes in the sand
Good times.
3.16.2010
3.14.2010
Don't Worry, Be Happy Now
I'm still here! Don't worry, I didn't jump off a cliff or drink the kool-aid.
We've been so busy since my last update with doctor appointments, PT, OT, ST, traveling, in-laws, and my new obsession with JoAnn fabrics...
We finally got some good news about the genetic test results. It seems that even though Lillian has the rarest of the rare types of PWS (only 1 in over 3,000,000 babies will be born with her genetic imprinting defect) our genetic counselor, the lab that processed the results, and one of the top geneticists for PWS in the country all believe there is a very low chance for recurrence.
*phew*
There's always the offer of prenatal testing for the next pregnancy, but Phil and I both agreed we aren't really interested in that. If we end up with another baby with Lillian's condition, that baby will bring us just as much joy as she does and they will live a happy life just like she will.
Speaking of living a happy life... We flew to Florida to meet Lillian's new endocrinologist and LOVE her. She filled us with so much hope and positive energy about Lillian's future. She made it very clear that Lillian will have plenty of opportunities in her future to do big things. She will go to school, she can go to college if she chooses, she can ride horses, play soccer, and have sleep overs. For the most part, she will live a pretty typical life. There will always be some things here and there that will be a bit of a challenge, but it all seems so much more manageable. (Did I mention said doctor and I had the same bright neon pink toe nail polish on? She's spunky AND smart.)
She was impressed with Lillian's strength and said she could tell we have a great PT, which we do :). We talked about Lillian's feeding issues (she's still tube fed because she doesn't want anything to do with bottles... but boy does she love her veggies!). There's a wonderful dietitian that will be taking over Lillian's diet once she returns to work after her maternity leave. Luckily she is working with the doctor by email to get us started on the right path to making Lillian a skinny kid... which is not an easy task with a child that has PWS. It's a crazy balance of trying to feed her the minimum amount of calories without taking away her energy or brain growth. Thank God they are professionals.
And here's Lillian modeling the first dress I've attempted sewing her. If you click on the pictures you can see the fabric up close (and my hot pink toe, lol):
We've been so busy since my last update with doctor appointments, PT, OT, ST, traveling, in-laws, and my new obsession with JoAnn fabrics...
We finally got some good news about the genetic test results. It seems that even though Lillian has the rarest of the rare types of PWS (only 1 in over 3,000,000 babies will be born with her genetic imprinting defect) our genetic counselor, the lab that processed the results, and one of the top geneticists for PWS in the country all believe there is a very low chance for recurrence.
*phew*
There's always the offer of prenatal testing for the next pregnancy, but Phil and I both agreed we aren't really interested in that. If we end up with another baby with Lillian's condition, that baby will bring us just as much joy as she does and they will live a happy life just like she will.
Speaking of living a happy life... We flew to Florida to meet Lillian's new endocrinologist and LOVE her. She filled us with so much hope and positive energy about Lillian's future. She made it very clear that Lillian will have plenty of opportunities in her future to do big things. She will go to school, she can go to college if she chooses, she can ride horses, play soccer, and have sleep overs. For the most part, she will live a pretty typical life. There will always be some things here and there that will be a bit of a challenge, but it all seems so much more manageable. (Did I mention said doctor and I had the same bright neon pink toe nail polish on? She's spunky AND smart.)
She was impressed with Lillian's strength and said she could tell we have a great PT, which we do :). We talked about Lillian's feeding issues (she's still tube fed because she doesn't want anything to do with bottles... but boy does she love her veggies!). There's a wonderful dietitian that will be taking over Lillian's diet once she returns to work after her maternity leave. Luckily she is working with the doctor by email to get us started on the right path to making Lillian a skinny kid... which is not an easy task with a child that has PWS. It's a crazy balance of trying to feed her the minimum amount of calories without taking away her energy or brain growth. Thank God they are professionals.
And here's Lillian modeling the first dress I've attempted sewing her. If you click on the pictures you can see the fabric up close (and my hot pink toe, lol):
2.27.2010
Test Results
Well, I guess I've procrastinated long enough with all the drama that's happened in the last week about Lillian's genetic testing. It's just so much easier to put it in the back of my mind if I don't have to talk about it. So this is going to be short and sweet.
There are three known ways to develop PWS (all of them having something to do with the paternal chromosome 15). One is by deletion of the paternal chromosome 15. This happens in about 70% of diagnosed PWS kids. The other most common is when the child gets 2 copies of chromosome 15 from mom (instead of getting one from mom and one from dad). This happens in about 25% of diagnosed PWS kids. The third is an imprinting defect in the paternal chromosome 15. This happens in about 5% of diagnosed PWS kids and there is a 50-50 chance that any child the father has will receive the chromosome with the defect instead of the one that’s working correctly.
All three tested negative.
How is that possible you ask? Because it did. I'm still not quite sure. But basically it was a type of imprinting defect (yeah, the bad one) that made its way onto the 15th chromosome passed down by Phil, from his mother. So basically a tiny part of that chromosome is still female (from his mom), which resulted in PWS. (Yeah, my daughter has more grandma in her than we bargained for)
What does this mean? I don't know. One genetics doctor says it's a low chance for recurrence, and the other says it's as much as 50/50. The "Debbie Downer" geneticist, as I so loving call her, is still unsure about the results and is waiting to speak more with the lab that conducted the tests. Her advice to us was to "be careful" regarding conceiving any time soon. THANKS A LOT LADY. That's stellar advice.
So worse case scenario we get pregnant, have prenatal genetic testing done, and if the embryo has PWS, we decide whether it's cruel to bring that child into this world and abort, or decide that the life we created is just that, a life, and continue on with the pregnancy.
Who wants to walk in these shoes? Don't everyone volunteer at once...
We're meeting with some (optimistic) doctors in Florida in about a week and a half to see if we can get any more details on the odds that we are up against.
So that's the low down. And here's my attempt to change the subject....
*Did you notice the blog makeover? Of course you did :). It was a great way to procrastinate actually writing this post. (Denial much)
*Lillian rolled over for the first time Saturday and the second time Monday. I got the second one on video, but because her clothes are hardly hanging on and she looks a mess, I might not post the video. Shallow? Maybe. But she'll thank me when she's older.
*I picked up a few new crafting hobbies - pictures to come.
There are three known ways to develop PWS (all of them having something to do with the paternal chromosome 15). One is by deletion of the paternal chromosome 15. This happens in about 70% of diagnosed PWS kids. The other most common is when the child gets 2 copies of chromosome 15 from mom (instead of getting one from mom and one from dad). This happens in about 25% of diagnosed PWS kids. The third is an imprinting defect in the paternal chromosome 15. This happens in about 5% of diagnosed PWS kids and there is a 50-50 chance that any child the father has will receive the chromosome with the defect instead of the one that’s working correctly.
All three tested negative.
How is that possible you ask? Because it did. I'm still not quite sure. But basically it was a type of imprinting defect (yeah, the bad one) that made its way onto the 15th chromosome passed down by Phil, from his mother. So basically a tiny part of that chromosome is still female (from his mom), which resulted in PWS. (Yeah, my daughter has more grandma in her than we bargained for)
What does this mean? I don't know. One genetics doctor says it's a low chance for recurrence, and the other says it's as much as 50/50. The "Debbie Downer" geneticist, as I so loving call her, is still unsure about the results and is waiting to speak more with the lab that conducted the tests. Her advice to us was to "be careful" regarding conceiving any time soon. THANKS A LOT LADY. That's stellar advice.
So worse case scenario we get pregnant, have prenatal genetic testing done, and if the embryo has PWS, we decide whether it's cruel to bring that child into this world and abort, or decide that the life we created is just that, a life, and continue on with the pregnancy.
Who wants to walk in these shoes? Don't everyone volunteer at once...
We're meeting with some (optimistic) doctors in Florida in about a week and a half to see if we can get any more details on the odds that we are up against.
So that's the low down. And here's my attempt to change the subject....
*Did you notice the blog makeover? Of course you did :). It was a great way to procrastinate actually writing this post. (Denial much)
*Lillian rolled over for the first time Saturday and the second time Monday. I got the second one on video, but because her clothes are hardly hanging on and she looks a mess, I might not post the video. Shallow? Maybe. But she'll thank me when she's older.
*I picked up a few new crafting hobbies - pictures to come.
2.17.2010
2.14.2010
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