Genetics

Jon and I had some genetic testing done.  We used this company.  It is a panel of 100 genetic diseases that are all autosomal recessive.  That means a child has to get two copies of the defective gene in order to develop that disease.  Here is a little infographic for SMA, but it applies the same to all autosomal recessive diseases. 

This panel of testing was developed by a bunch of doctors from Harvard.  It is meant to be preventive testing prior to getting pregnant, at an affordable cost.  We chose this method mostly because it is cheaper to do this panel of 100+ diseases than it is to get specifically tested for SMA.  The chances of only one of us (or neither of us, which would mean it was a spontaneous mutation) being a carrier were slim, like 2% slim.  But I felt like I had to know for sure.  The results came back this week.  The logic of probability and genetics won again.  We're both carriers.  I was fine for the first couple days after getting this news.  But it kind of reduces the likelihood that we'll have more children.  Last night I went into the attic to make sure I had all the summer clothes out for the boys in their current sizes.  I saw all Vanessa's old clothes sitting in a tote and suddenly the realization that I didn't need to save them anymore hit me hard.  I have always wanted another girl, and Vanessa asks frequently for a sister.  It crushed my heart for just a moment that it might never happen.  I pushed the thoughts away somewhere to be dealt with another day and continued my search for the here and now.

 

I feel like I can't bring up preventive genetic testing without bringing up the ethical issues this has.  I was actually really impressed with this company because they sent me a bunch of literature to read and specifically one article discussing "Designer Babies."  I have HUGE issues with the whole idea behind Designer Babies.  And we won't even touch on abortion because I'm also opposed to murder and they're the same, right?!  So, back to Designer Babies.  Sometimes I wish Benson didn't have SMA but then I wonder how that would change him.  I love Benson just the way he is and even though I wish he could run and play, I love the qualities and tenderness this trial has taught him.  Would he be a different person without having body to deal with?  I don't know.  So if we were to have another child and decided to use IVF with PGD to ensure a child without SMA, would we be robbing that child of their trial that was meant to help them grow and become an amazing person?  Are we meddling too strongly with things that only God should be left to control?  Or are we using the ingenuity and technology that God gave us to "heal" that child before they are born with a fatal disease?  If there were a cure for SMA, we would surely use every resource we had to make sure Benson got it, so why not use every resource to prevent it from happening?  But then we are in a circle again, see questions above.  The only con to these tests that I see is people finding out they could have a child with a specific disease, deciding not to do IVF, but doing amnio and getting abortions until they have a "healthy" baby.  It sounds morbid in a way, but I honestly heard a woman say they were trying IVF after two failed natural conceptions.  It kind of blows my mind.  So what then, is the pro to the testing if there is nothing to do with the information.  I guess I just like knowing.  There may be some diseases where something can be done in utero, or immediately after birth to improve outcomes.  I know this is the case with PKU, but I don't know much about most of the diseases.   And, I won't lie, it's oddly fascinating to me to know what is lying around in my gene pool.  The literature said that the average person is likely to be a carrier for 4-6 diseases.  SMA is the ONLY disease I am a carrier for.  Ironic, that's all I can think of.

Vanessa's Birthday

On Saturday was the trophy meet.  After some house work and playing with neighborhood friends, we had to run some quick errands.  This included stopping at Sams Club to get "The Big One."  The Big Birthday gift.  On Sunday, we gave Vanessa her big gift, which was a trampoline.  She was pretty excited and has jumped on it quite a bit.  It took forever to set up, not the leisure or family friendly Sunday activity we were hoping for.  But it did get set up and before the birthday party.  So that takes us to the birthday morning.  Vanessa woke up and asked me if she was 4 yet.  I told her she was born in the afternoon, so technically not yet.  So then all day she told everyone she wasn't 4 yet.  Ooops, too confusing for a 4 year old.  For breakfast she had toast with strawberries and chocolate sauce and whipped cream.  Then we had to continue with our usual Monday mayhem which includes gymnastics first and then swim therapy for Benson in the afternoon.  I didn't want to spend all of Vanessa's birthday getting ready for her party so I had done as much beforehand as possible and kept things as easy as I possibly could.  We still had a few things to finish up though so the kids helped me frost a few cupcakes.  Then they got bored so we spent a few hours jumping on the tramp.  Then went in for lunch and then headed to swimming.  Luckily, we passed Jon on our way so we switched cars.  He took the kids to swimming and I ran a few last minutes errands and finished the party prep.  Everything was ready when they got home so Vanessa opened a few more gifts from me and Jon.  We got her some more dresses (since that's all she wears), some Crocs, Doc McStuffins play doctor set, Mermaidia the movie, and a new board game.  Then the friends arrived for the party.  We invited Durtschis, Daughertys, Halls, Firmages, Fairbanks, and Lorences.  We had pizza, grapes, salad, and punch.  I had a few games planned but most of them involved water and it ended up being chilly.  So we were going to play Limbo and do a Hula Hoop contest but the kids weren't diggin it.  So we did the pinata and then opened gifts.  Oh, and they definitely jumped on the tramp.

 

I made mini cupcakes for the kids.  Which I think is way better because you get way  more frosting to your cake.  But they were all totally bummed that the big cupcakes were for the adults.  Plus, some kids can pound like ten of those puppies but some only eat the frosting off.  So it's less wasting this way too.  I think I had around 40-50 mini cupcakes and those 12 kids pounded those.  There wasn't one left over.  Well, Knox licked the frosting off like 3, but I'm counting those as consumed.  The party went from 5-7 and literally as soon as everyone left, the Tornado storm moved in.  I told everyone it was waiting for the party to end because I had prayed that everyone wouldn't be inside eating on the new floor.  Ha! 
It was our first tornado warning here in Missouri.  I won't lie, I panicked a bit.  I rushed to get the flashlights batteries changed. Jon fiddled with the weather radio.  I had the news on in the background.  I was listening to the hail on the window practically sure we were going to have to head to the closet any minute.  But, it blew over and no closet refuge necessary.  It was heartbreaking though to hear that a tornado did hit Oklahoma City and it got hit hard.  It took down two elementary schools and a hospital.  Last I heard, 24 people had been killed and 9 of those were children.  The tornado hit around 3, so the kids were in school.  It made me feel that gut wrenching feeling of having to send my kids to school one day all too soon.  Almost as bad as the day of the Colorado shooting. 
Before I digress anymore, while we were getting the tornado preparedness under control, we were also calling grandparents so they could sing happy birthday and Vanessa opened presents from her grandparents.  Grandma and Grandpa Purdy sent her a big Rapunzel doll and matching dress up and also a Cinderella snow globe/music box.  Grandma and Grandpa Brady sent her 3 Barbie movies, a bag to hold activity books and crayons, a nightgown, and a Happy Birthday sign.  She is definitely one spoiled girl!  We finally headed to bed though I made Vanessa sleep across the hall in Benson's room and checked the weather until midnight, just to be sure.  The next morning there were two trees that lost branches on either side of us.  But our tramp was ok :)

All About Vanessa

Vanessa had her first gymnastics trophy meet on May 18th.  I was so proud of her and she just loved it.  They did a routine on the floor, vault, beam, and bars.  The bars were really scary to her at first, but her teacher, Nick, is really patient and helped her to feel more comfortable and she's doing really great.  I think Vanessa has amazing potential in gymnastics.  We are going to start taking her to the open gym days on Saturday to see if it is something she wants to pursue more seriously.  If it were something that would make her happy, I think she could be awesome.  I am sure I am biased, but she seems to have a lot more control and strength than a lot of kids her age.  It will be fun to see what she decides to do in gymnastics and how far she wants to take it.  But she sure loves it and I can tell she feels proud of herself when she does well too!

I thought it was cute getting her trophy, she had watched all the other kids stand there and pose, but when it was her turn, she just wanted to bust out of the lime light as quick as she could. She does get a tiny bit shy when lots of attention in on her, though she isn't shy generally.

Vanessa is so much fun. She has a great imagination and always wants us to play her pretend games with her. She wants someone to play with her pretty much every waking hour. She can play alone, but she doesn't like to and she will seek out friends to keep her company. She has made some great friends in the neighborhood and has become the neighborhood little sister. She loves to play with all the kids and actually plays really well with all of them. The older girls love her and she's the little sister they all want, like the kind that you can play with for an hour but won't come home to touch your stuff :)

Vanessa is absolutely ecstatic for preschool. We went to a preschool meeting and she could hardly wait to start school. It was tough explaining to her that it was for the fall. She is doing pretty well learning her letters. She recognizes more of them than I give her credit for. She is starting to actually draw pictures of things and we have some great artwork by her. My favorite part is always the explanation of what the picture is.

Vanessa loves her younger brothers. She really wants to nurture them like they are newborns which can get an interesting reaction. She is starting to play better and better with Benson. I'm always reminded how well she does play with her brothers when I see other kids not tolerating their babies at all. She puts up with a lot of "baby behavior."

Vanessa is starting to be a big girl. She is dressing herself most days. I am learning that she doesn't like being rushed. I have to give her the time she needs to let getting dressed take an hour. Yes, it can sometimes take an hour. She is easily distracted by that great imagination of hers. I am also learning that she doesn't like being a helper with "things" but she will be a helper with Brig. If I ask her to get me something, there's not a chance in the world she'll do it. If I ask her to watch Brig, so I can get something, she's excited about it. She's just all about being with people, in every single way.

Vanessa rides her bike with training wheels like a rockstar. She has a hand-me-down bike with no training wheels that she really wants to learn how to ride. We are working on it slowly and practicing a bit every day. She just might have it by the end of the summer.

Vanessa loves to search for bugs, play dress ups, draw with sidewalk chalk, jump on the tramp, watch movies, jump on the bed, and hide in pillows and blankets. Her favorite colors are pink and purple. She loves things to be beautiful and wants her room painted REALLY bad so it is beautiful. Her favorite name for her toys is "Prettiness." And if we had a dog, she would name her Prettiness. She wears a dress nearly every day and sleeps only in nightgowns. Her favorite foods are cereal, root beer floats, blueberries, broccoli, and milk. Her best friends are Sophie, Reese, and Bailey.

We just adore this girl and everything about her.

At The Park

So this latest remodel project took its toll.  It was exhausting for Jon to go to work, come home, work on the floor until bed and then start over again.  I was exhausted from taking care of everything house related from kids to health to bills to insurance.  We didn't even have five minutes at the end of the night to talk about life.  It just started to take its toll.  So when we got to the point where we were good, we weren't quite a full on construction zone, we took an afternoon and went to the park.  It was MUCH needed family time.  To chill, enjoy the spring day, play on the toys, swing, and catch some caterpillars. 

 

 

I love this family of mine.  I really am one lucky lady.  It feels so intensely overwhelming some days.  But what can you do, than take a deep breath and carry on.  Today I was thinking how nice it would be to get my whole house clean, blog book done, blog updated, write my talk for conference, and on and on and on; without having the constant interruptions.  And then I thought, but how boring would that be?  I'd get it all done in a few hours and then what?  What would be my purpose?  How would I make myself a better person?  Because being a wife and a parent has been the biggest slice of humble pie ever to be eaten in my life.  It is my reason for becoming a better person.  If it were just me, I would have no one to show me all my flaws and imperfections.  No one to push me out of my comfort zone and make me really work for that extra ounce of patience.  And then there would be no morning cuddles, no slobbery kisses, no more wiping tears, no more hearing their adorable voices, no more laughter, no more baby babble and mispronounced words.  Being a mom is definitely hard work, but I've never heard anyone say it isn't worth it.  I love these guys.