Sunday, March 31, 2013

Easter 2013

Another successful Easter in the Pletcher house.  Kids woke up early, searched for eggs, opened a few presents, ate their weight in candy, and had a chance to play outside because we FINALLY are having good weather.

Enjoy the pictures!!

Saturday we dyed Easter eggs.  Only Finley likes them out of the kids, so we don't dye many:

 Scooby eying up the eggs.  Later that night when Mat and I were getting things ready, he snuck and ate three eggs off the table - shell and all.  Even ate the paper towel they were drying on.  He never climbs the table!  I am glad he didn't get sick.

 Finley got a little silly after awhile:
 Easter morning - ready to go down stairs:

 Finley's presents from the Easter bunny.  Don't judge EB - he wraps even the candy.  My kids like wrapping paper:
 The eggs Scooby couldn't reach:

 Cainan's stash:

 Arlington's stash:
 Arlington's Easter presents:
 Finley's Easter presents:
 Cainan's Easter Presents:

Wednesday, March 27, 2013

The Ups and Downs of LCA

"You take the good, you take the bad, you take it all, and there you have - the facts of life"

Ah 80's TV.  Remember "The Facts of Life"?  This line from their intro song stuck in my head yesterday afternoon after we drove home from Finley's vision field test.  After last Friday we learned that Finley's retina seemed to be stable, we found that her vision field has deminished.

Last year at this time, she still had a little bit of sight left in the very center of her eye, but now that is gone.  She has no more central vision left.  And her peripheral vision has deminished by 10%.  Last year she could see 50 degrees and this year, 40 degrees.

The vision field Dr. is my favorite of all of Finley's doctors.  She is amazing with kids and extremely patient.  She sets aside 3 hours for testing and talking with parents about the results.  She never rushes.  When she retires (which is going to be soon) we are really going to miss her.

We spent time comparing Finley's test from last year to this year.  It was hard to see that she has lost more.  But we knew it.  We could tell by the way she has been acting at home that she had lost some more vision.   The new glasses don't be making much of a difference for her....yet.  Dr. Mayer seemed to think that since they are mainly for astigmatism it takes the brain a few weeks to adjust, so we may see some improvements.  We will just have to wait and see.

The hardest part is when after 3 years of visits with Dr. Mayer, she patted my hand and gave me that look of pity.  She said that the inevitable is happening, and we know it.  She is legally blind.  It was almost like she was accepting it more than we were.  You know you can't stop her vision loss without a cure, but some how we do think on some level that Finley will be spared.  Silly, really. 

So - we are where we are.  We got some new suggestions for school to help her, and I shared with the school.  I am meeting with her Teacher of the Vision Impaired next Tuesday and we are going to talk technology.  And we keep on keeping on.  Finley is happy and healthy.  She still has very good vision for a kid with LCA.  Things could be a lot worse, so we count our blessings.

The picture above was taken of us this past Sunday.  We hardly ever take a picture of our family, so it was nice to do so.  We were dressed still from church, so we looked half decent.

Friday, March 22, 2013

Finley's Retinal Appointment

Today I took Finley to Massachusetts Eye and Ear for her annual Retinal Specialist appointment.  It is an all day appointment and she does not love it.  But she was a trooper today, and the appointment went quickly.

We got good news that Finley's vision seems to be remaining stable.  Although we have seen her move closer to the TV and tilt her head a little more, according to her test today her vision in her right eye is 20/60 and her left eye 20/120.  Dr. Pierce seems to think that Finley is getting older and better able to do the testing, so before her answers were probably not as accurate.  She has always had one eye a bit worse than the other, but this was quite the stretch.  This is as far apart as they ever have been.  The right eye also seems to have gotten better acuity, which we were told can happen sometimes.  It will get a bit better for awhile, and then take a decline.  But for now - things look good.

They did an ERG (electroretinalgram) which she really hated.  The last time she had this done, she was asleep, but she is old enough know they decided to try it awake.  It is a pretty uncomfortable procedure, but she did well.  The ERG is how the doctor determined Finley had LCA and not something else.  She has a classic ERG - very little response from the retina when light bounces off.  A normal person's level is about 200, and Finley's is 35.  And this is consider good for LCA, but LCA none the same.  So - she had a stable ERG (it hasn't changed since the last time she had it) but it isn't GOOD.  Make sense?  Still very little active recognition from the retina, but she has some!

They had to put drops in her eyes three different times, and the drops they use sting.  She was about to lose it the last time, but she let them do it. I felt so bad for her.  They had so many test they had to do today, they had to keep putting drops in her eyes to keep them dilated, etc.  It was not fun.

She also did a dark adaptation test -where they test her ability to see in the dark.  She did really well with this.  This always surprises us and Dr. Pierce because one of the signs of RDH12 is night vision loss.  This is the one thing Finley has never had.  There are a few other children with RDH12 that do okay but most of them don't have any night vision at all.  So we consider ourselves lucky.  She had to wear eye patches over her eyes for 30 minutes before we did this test, but she kept herself occupied listening to Junie B. Jones on the Ipad.  Thank goodness for that Ipad.

They took pictures of her retina, and the black areas are still there - of course (not like we thought they were going anywhere) and she has decreased pigment and thinning vessels, BUT they have not changed in the last year.  This was great news.  She has LCA, we know.  She is going to go blind, we know.  BUT - right now she is in a stable period, so we are so, so happy.

They didn't do the vision field testing part of the day because we are having a very extensive vision field test next Tuesday.  So that got us out of the appointment a little early as well.  We are very anxious for that visit because that will tell us where her holes are in her vision.

We had a nice talk with Dr. Pierce and his whole team (which has about 8 people on it - researchers, geneticist, doctors......).  LCA is still a rare disease even in the opthomology field.  Each doctor took a turn looking in Finley's eyes because you don't get to see LCA retinas that often.  Finley thought this was hysterical - that they all wanted to have a look.  She was really good about it.

 We talked about how LCA is still such a mystery.  That we can guess all day long what her path is going to be.  We have a pretty good idea from past RDH12 cases, but each kid is different.  Finley has pretty good vision for an LCA kid.  But there are kids that have better.  And there are many - even among our RDH12 kids - that have worse.  He told us that she is in a "plateau" period, but that one day she will go down and they don't know when that will be.  And then she will plateau off again for awhile.  It could be next year, or in 5 years.  We just don't know.  We talked a lot about the foundation and our work and he was impressed about the money we have raised.  Never stops making me smile to see the surprised look on the researcher/doctor's faces when I tell them what a power of a parent can do.

So a good day.  Finley is wiped out, but happy that it is over.  We are home and relaxing and enjoying the fact that for now - we are doing everything right.  She is remaining stable, we are protecting her eyes, and we are given the gift of time with her vision for now.

Thursday, March 21, 2013

Picture Catch Up

Between working on the races, getting ready for our next bunco, and stuffing 1000's of envelopes, I did actually take some pictures.  You're welcome.

So here they are - enjoy!!

This is what happens to you when you mingle with a skunk and the skunk wins.  You get a bad hair cut and a bandage.  Dumb dog:
 Rosebud looks huge next to Scooby now:
 On March 14th, Rosebud turned 1 year old.  We got her a doggie cake:
 Which she threw up later that night because she ate the whole thing all at once:
 She got two new toys and Scooby promptly stole one and got it stuck on his head.  Yes my life is a circus:

 This past Saturday was the pine wood derby for the boy scouts.  Cainan was so excited:
 His car is the second one from the left:

 Yesterday a local artist, Bruce Davidson, who has taken an interest in our cause for Finley came over to paint with her.  He heard about her love of art, and brought over a 6 foot canvas and all kinds of art supplies and spent 4 hours painting with her.  She was in heaven!!

Monday, March 18, 2013

Excitement, Stress, and Being Busy all at once

This week and last week have been extremely busy.  Okay, when is it not busy - that would be easier to write about.

The kids have had a lot of appointments, and I am deep in the thick of planning both our June race and our August race for Finley and our foundation.

As the months move along as an alarming pace, I realize that our first Massachusetts race will be here before I know it.  It has been so exciting getting daily mail with gift cards and goodies for our basket raffle, money from our sponsors, and just general good will.  An article was printed in one of our local newspapers and it has generated phone calls and donations, both very welcome.  Our town newspaper will print our article this week and hopefully that will bring in even more race registrations to get this party started.

We are at the beginning stages of our race in Pennsylvania but have already had great response from sponsors and goodies for our basket raffle.  I just never am less amazed at the generosity of the people who care for Finley.  It makes me smile to write each thank you to all of our generous donors to let them know how truly thankful we are to them.

The stress comes when I realize that running two large events so close together can cause me to lose sleep.  Somedays I never leave the computer for the whole 6 hours that the kids are in school and realize I haven't eaten a thing in that time.  I am in a zone and trying to get everything entered - not wanting to make one mistake.  I keep a notepad by my bed so that I can write notes at 3am when they come to me.  Thankfully we have two kitchen tables because our dining room table has been divided into Massachusetts race and Pennsylvania race.  I have file folders for each.  I have countless spread sheets.  I have the constant taste of envelope glue on my tongue.  It is an interesting world.

But I enjoy every second.  My type A, love for all things office supplies side kicks in high gear and relishes in the set up.  But the tired mommy side of me looks at the table and thinks "I need to hire a secretary".

We are also running a "Half Way to Race Day" donation program.  I came up with the idea to try this year.  Right now we are just running it for our Pennsylvania folks is half way to our August race.  I sent everyone a reminder letter about the race, updates on Finley, and a form and envelope if they wanted to donate to our foundation.  In the week since I started receiving replies we have received $750 in donations!  It is wonderful.  We so appreciate the generosity.  Hopefully this program will become a yearly thing and a nice way to generate extra funds for our foundation without having to hold an event.  As much as I love our events and getting to see everyone face to face - this is eons easier.  So we will do this, plus our annual event in each town, and our foundation is going to grow by leaps and bounds!

Today Cainan has his Cleft Clinic appointment.  He saw his Cleft palate doctor, the dentist, an Audiologist and a speech therapist.  The consensus of the group was to wait until he is around 8-10 years old and do all the work at once - fix his jaw, do his bone graft, and fix his nose.  This made me happy because I didn't like the idea of doing them at all different times and keep invading his space.  He has already been under sedation 9 times in his short life, and had his lip and nose messed with 5 times, so a break is nice.  The speech therapist would like to see him get speech therapy once a week at school, so she is going to make a recommendation.

Tomorrow Finley is having some teeth pulled.  She has way too much crowing and adult teeth coming in over top of her baby teeth - she is a mess.  She will be under sedation for it because she is young and squirmy.  She is not thrilled about it, but she will be home tomorrow with me after the procedure, and we can just snuggle and relax all day.

Friday Finley has her annual retinal specialist appointment.  I am looking forward to this appointment for the fact that I think things have changed with her vision and I want to see how much.  This appointment, though, tends to last 5-8 hours, so it is not a fun day for anyone.  Mat can't go with me this time, so I am there alone with her all that time.  Should be interesting.  Thankfully we have the Ipad, so she can stay occupied.  I will share the results after that appointment.

Tomorrow we are expecting snow.  Again.  If I ever see that Ground hog, he is a dead man.  Spring starts in a few days, and my tulip buds are making their appearance.  But it is going to be 18 degrees and we are getting 8 inches of snow.  What.the.heck.

Thursday, March 14, 2013

A Great Experience

Last Friday Mat and I were invited to a HBO Documentary film premiere.  Mat's lab has done some work on Progeria (read about that HERE) and so we got to go.  It was a really unique experience and I am so glad we got to go.

The film was in Boston because the family lives in Massachusetts.  The theater was REALLY cool.

The film was about Sam.
The family that was part of this documentary runs the Progeria Research Foundation which has raised millions of dollars for clinical trials to help cure progeria.  Right now they have found some medications that help control the symptoms which will hopefully prolong these kid's lives.

Kids with Progeria live an average of 13 years.  Some more, some less.  The boy that the film was about - Sam - just turned 16 years old.  He has outlived his life expectancy by 3 years.
Sam was the most well spoken kid I have ever met.  It was great to listen to him and watch his life story on film. 

His mom said a lot of things that Mat and I say when it comes to Finley.  She saw a problem and she is working to solve it.  She races the clock to save Sam's life and the lives of all the kids with Progeria.  Listening to her solidified for us that we are doing the right thing for Finley and kids like her.

Parents will change the world of science.  They have been for many years, and we are getting stronger.  There is nothing like the will of a mother to save her child to get science to move forward.  We will never stop. 

Sam's mom is determined to save him.  She has devoted her life to saving his.  And so far, she is winning!!

Sam's movie - "Life According to Sam" will premiere on HBO this fall and then will be out on DVD in the spring.  You should try to catch it.  It was amazing.

Monday, March 11, 2013

RDH12 Dinner Dance

This past weekend we had the honor to go the the Fiore family's dinner dance for their daughter, Bella, and our RDH12 Fund for Sight.

Like Finley, Bella has RDH12 LCA.  We met their family at the LCA conference in Philadelphia in 2010, and we are so glad we did.  They are an amazing family who have grown our foundation by leaps and bounds.  We would be no where near our cure if it wasn't for them.  They have two amazing events a year - the Dinner Dance in the spring, and a golf outing in the fall.

The Dinner Dance is so fun because we get to dress up, and dance, and have a great time.  This year we were able to bring the kids.  It was nice for the donors to be able to meet Bella and Finley and see how well the girls are doing, and for us to express how grateful we are for all of their support.

Bella's Buddies raised $20,000 Saturday night for our foundation.  How amazing is that news?

I took some pictures of the night, and the Fiore's sent me a few - so here they are.  Enjoy!

Finley and Bella at the beginning of the night:
 Maria and I with our RDH12 girls:
 Bella and Finley doing some crafts at our table:
 Anthony (Bella's brother) and Cainan playing the ipad.  Cainan was so happy to see another boy:
 Ava (Bella's little sister - she and Anthony are twins) coloring at our table:
 My favorite picture of Finley and Bella:
 They were goofy all weekend:
 Ava and Finley:
 The Fiore's getting ready to start the night:
 The girls were thinking of dancing:
 Finley and Arlington start tearing up the dance floor:
 Cainan did was he did best - stay in one spot all night:
 The Fiore family and our family:
 Finley and Arlington dancing:
 Mike and Ava:
 The girls did this most of the night:

 They held hands all night.  By the end of the night they said their feet hurt from dancing so much:
 I won a raffle prize1  I never win anything!  I won a REAL Kate Spade bag. 

 I love it so much:
 These were the centerpiece of the tables.  Arlington won one - she was excited: