Pics from Gracie's last day at Disney

Gracie loves the Little Einsteins so this is one of her highlights.  They were so good to let Gracie spend a fair amount of time with each of the characters and she loved it!
This is Gracie with Prince Caspian from Narnia.  The conversation went something like this-

Prince Caspian- Hello, princess. What is your name?

Grace- Gracie

PC- And where are you from?

Grace- Texas

PC- It is so nice that the Princess of Texas has come to see me!

Grace- I am not the Princess of Texas.  I am Gracie.

PC- Well you look like a Princess, Gracie.

Grace- I am not a princess. I am Gracie.

They continued and spoke about the other Texan princesses (Gracie's sisters) but Gracie was insistent that he call her Gracie.  It was kind of funny.

Prince Caspian was amazingly nice and this was the highlight for Gracie's oldest sister!

Annie (the Little Einstein on the left) is Gracie's favourite.  She was so excited to see her!
This is Gracie on Splash Mountain. It was one of her favourite rides.  This was her expression for much of the 10-15 minute ride.  The first time she rode it was without me and when she found me after she ran up and excitedly said, "Dad are you ready to get wet! Let's do it again!"  She was soaking wet in her beautiful princess dress but wanted to do it all over again.  I did go again with her and it was awesome!
This is Gracie riding the Tram on the way to our car on our last night in Walt Disney World.  She was still excited but tired.  It was a wonderful vacation!

Gracie's Deletion

We're still planning on putting up more pictures from Gracie's Wish Trip, but right now I just need to update you on the less fun side of this blog. Yesterday our whole family drove to Houston to get genetic testing done so we can determine if we are at risk for developing retinoblastoma (the kids) or possibly having more children with the mutation (James and I). Now that we know where Gracie's mutation is it makes it much easier to test the rest of us because they know exactly where to look. I'll write exactly what the lab report says about Gracie's mutation, which actually is a small deletion. This way if you have a really good knowledge of genetics you'll know what I'm really talking about. Otherwise it's just blah, blah, blah.

"Quantitative multiplex-PCR, long range-PCR, and sequence analysis identified a deletion mutation called g.50965_59649del8685 in DNA from Grace's blood sample. This mutation is a deletion of 8.5kb of DNA on one allele of the RB1 gene. The deletion starts in intron 6, deletes exon 7 and extends to the beginning of exon 8 of the RB1 gene, destroying the exon 8 splice acceptor site. The deletion is expected to cause out of frame skipping of exons 7 and 8 in the mRNA transcript. This mutation is highly likely to lead to retinoblastoma."

So James and I were tested to determine if we carry this mutation and passed it on to Gracie. This is unlikely. All of our kids need to be tested because even if James and I are negative it is possible that we have a germline mosaicism. This means that we don't carry the mutation in all of our cells but we could produce multiple eggs or sperm that carry this mutation. Our other 3 kids who needed to be tested were somewhat terrified at the prospect of getting their blood drawn for the test, but in the end I think they did pretty well. Our oldest daughter who is 7 didn't really fight but because she was the last kid to get her blood drawn she was pretty nervous by the time she got in there. In fact she looked quite green. It wasn't until this morning that we decided that she was fully recovered and able to go to school.

While we were talking to the geneticist I had a couple of questions that we got really good answers to. My first question was why when Gracie has already developed 7 tumors in her eyes are her odds of developing other cancers only 51%. Not that I think that's a low percentage it's ridiculously high but she's already developed 7 separate tumors, it's not like they've spread and started to grow again. If this is the case why doesn't she get tumors all over her body all the time (at least in the cells related to the RB1 mutation). The answer is this. Your bones, and lungs, and most other areas of your body have several genes that are required to mutate before cancer starts to grow. So most organs, tissues etc. have several genes (5 or 6) there as a defense mechanism. The retina on the other hand only requires one gene to mutate in order to have a tumor start. And because one of those alleles already as a mutation in it in Gracie's case the odds are very likely. So that's why she's developed seven tumors in just 3 and a half years of life.

It's nice to know that the body has so many defense mechanisms in it. DNA is mutating all the time. Some mutations are genetic like Gracie's, but others are brought on by environmental factors. We can't do anything about the genetic mutations. But knowing they're there is a really powerful tool. We do however take as much control of the environmental factors as possible. This is why we've got Gracie a swimsuit that covers so much skin (shorts and long sleeved shirt). This is why she wears sunscreen with SPF 85 and a hat. This is why it's important that she eats a really good diet full of lots of fruits and vegetables and only limited meat. This is why she can never ever smoke, or even be around people who smoke (besides the fact that it's stinky and darn right nasty). We want to stomp out every possible environmental factor that we can. We love our little girl, and all of our other kids as well and want to take as good of care of them as we possibly can.

Stephanie

We're Home

We just wanted to post a couple of pictures really quick and let you know that we got home safe and sound from WDW. We had a blast!! Between our two cameras and James' sister Nikki's camera we have around 1200 pictures documenting our trip. We plan on doing a more detailed account of our trip, but right now we're still too tired. We hope these pictures will be enough to let you know that we absolutely loved this vacation. We learned that our girls are all roller coaster junkies. The girls also enjoyed walking around the Magic Kingdom dressed in their princess outfits that my mom had made them. Talk about a good grandma. She even got special sparkly material to do the dresses with, which was a particular hit with Gracie who was Belle. Our other girls were Jasmine and Ariel in her wedding dress. Hopefully we'll get the rest of our updates up soon.

Stephanie

We are on the plane!

The kids are so excited. If I had a dollar for everytime the asked if we were almost there, I could go to Disney next week too. And we are still not in the air

Answers to a couple questions

A few people have commented that they would love to send Gracie something.  I really do appreciate your love and willingness to give Gracie something, however, I am uncomfortable distributing her address via the blog.  Anyone is free to contact me via e-mail (through my profile link in the right hand column of this page) if you have any questions regarding this.

Secondly, there was a comment regarding the costs of one unit of platelets.  After reading that comment I realized that I was not as clear on a recent post as I should have been.  I do keep detailed records of the bills that I receive from medical providers. However, I do not request bills from all of Gracie's appointments.  For example, we went to the cancer clinic quite often for check ups or transfusions.  These appointments required a $30 copay, per our policy.  We paid the copay at each visit and never received a detailed statement from them for anything that was done.  Similarly, I rarely receive statements from our pediatrician, ophthamologist and blood clinic.  Sometimes the hospital does not send a statement if we pay the copay upfront.  I know that my policy requires a copay though, so I am willing to pay that.  If there are additional charges, I will not pay them until they provide a statement of charges.

So I guess that is the long winded way of saying that I do not know what the charge for a unit o platelets is.  I would love to know as well.  When I started this blog, that is one of the things that I really wanted to be able to tell others.  I wanted to be able to allow them to estimate the future costs.  However, that is not really possible because of all the differences in insurance policies.  I keep track of my costs and I was happy that there was a maximum out-of-pocket expense on my plan.  When that maximum was reached (within 2 months of diagnosis), I realized that we still were required to pay copays.  The copays are not included in the maximum.  Each month the copays were $400 to $600 after our maximum was reached.  So even with an insurance policy where we supposedly have our total payments capped, we continued to pay much more than I had ever anticipated paying for healthcare.

Having said that, we have been richly blessed and humbled by the support that has been offered and given.  It has been amazing to see how many people really love Gracie!

Getting Excited!

We've spent this morning finishing up packing, and then we took our dog Elmo to the kennel (where according to our 5 year old he's going to have a party with the other dogs while we're gone - good to know we'll all be having a good time this week). Now that that's out of the way the girls haven't got much to do to distract them from thinking about our trip. Every 15 minutes they ask "How much longer until bedtime?" Really this is better than Christmas, except we'll have the same problem that once they do go to bed there will be no way that they'll actually sleep. We plan on taking lots of pictures so when we get home we'll report on our trip!

Stephanie

Mutation Found!

Okay. We haven't actually met with the geneticist so James and I haven't found out exactly where this mutation is, but the lab found it and has sent the report off to our geneticist. I called the lab today because I started worrying that the blood had been lost before it got to the lab. It seems like this has been pending forever. But the lab (Retinoblastoma Solutions in Toronto) told me that they'd found the mutation and that the report has been sent. So our appointment with Gracie's geneticist which is scheduled  for the end of March looks like it's a go. Although we're trying to get it moved to the same day as her EUA so that we don't have to make 2 trips to Houston.  Finding the mutation is great news because now we can get our other kids and their cousins genetically cleared so that they don't have to continue with routine screening under anesthesia.

Stephanie

Gracie's Kick-off party

We all went to Gatti Land for Gracie's kick-off party.  It was a lot of fun. There were two volunteers from Make-a-Wish that gave us info on our trip.  Gracie was given a few gifts and we all had lots of food and played lots of games.  Gatti Land is a place with lots of arcade and midway like games along with all-you-can-eat buffet (mostly pizza).  We told the kids we were going on an adventure.  They thought we were headed for a hike.  They were quite confused until we were actually inside the party room at Gatti Land and saw Gracie's name on the door.

They gave us plenty of tokens for games and everyone had a great time.  Gracie was disappointed that she could not go on the bumper cars with her older sisters (she is not quite tall enough yet), but everyone found something they loved to do.  We spent enough time in the game room with all of the music and lights that I have a headache now.

Everyone is so excited for our departure in 8 days!  I am not sure how everyone will handle waiting that long now.

Gracie pics from past month

Beautifully bald!
Gracie from her most recent trip to the cancer clinic.  Her hat was a hit!!
Gracie eating breakfast one morning!
This is Gracie and her new swim suit.  It has added sun protection for our little girl!
This is Gracie trying to convince Elmo (our dog) to be a space dog.  The drum made a perfect helmet according to Gracie. She's seen way too many previews for the movie Space Buddies.

Gracie's 8th EUA- the Good, the Bad and the Beautiful!

Gracie underwent another EUA today. Here is my quick summary of today's results.

The Good-

The left eye has two tumors. One was thought to be dead and completely "flat" last month.  This month it looks exactly the same so we are pretty sure it is all taken care of.  The second and bigger tumor has responded favorably to laser treatments and continues to shrink.  One or two more laser treatments are in order to get that tumor flat against the retina (all dead).

The pre-existing tumors in the right eye and the vitreous seeds have not grown and her vision in both eyes remains unimpaired.

In four weeks we will meet both Dr. P and Dr. G for the switch to Dr. G as our primary pediatric ophthalmologist for Gracie.  We are excited about that and found out that Dr. G will meet with us on Fridays.  Fridays are typically better than Thursdays so that is good from a logistical standpoint.

The Bad-

The tumors in the right eye have not shrunk and another tumor was found in the right eye. The tumor is small and in the periphery of the eye.  It was treated with laser and Dr. P said that if it is not flat by the next appointment (four weeks from now), she will use cryotherapy and get rid of it once and for all.  It is disappointing to find new growth however the growth seems like it will be relatively easy to kill and is located far from any location that would influence vision or spread outside of the eye (good news!).  Dr. P pointed out that this is the area where we would expect new growth in someone Gracie's age. The cells in the periphery of the retina are the ones that are still maturing, so they are the ones susceptible to mutation.  The retinal cells toward the macula have matured and so will not start new tumors (that is certainly our hope). 

This does not impact any future plans, yet.  We are still just on a holding pattern, waiting to see if the tumors grow when she is not getting chemotherapy.  The next step will depend on Dr. G's assessment in four weeks and how the tumors respond.  Hopefully we continue to see no growth in existing tumors and shrinkage in the tumors being treated with laser treatments.  We will continue to monitor the eyes and act when changes occur (like the new tumor today that was hopefully effectively treated by laser therapy this afternoon).

And the Beautiful!

Gracie loved wearing her Rock Star sunglasses in the recovery room and eating her red popsicle. The nurses there know her pretty well and commented on her new hair cut and her sense of style!  Dr. P also told us a funny story about her when she met everybody right before her surgery.  She had been talking all morning about how excited she was to see all her friends at the hospital.  When she left us to go to the operating room, she seemed eager to get to see everyone.  Dr. P said she got into the room and looked around and said, "These aren't all my friends from the hospital."  Dr. P said she seemed happy to see everyone nonetheless but thought it was cute that she had been looking for some specific friends and had obviously not found them there.

Gracie was a bundle of energy after her surgery and into tonight. We left this morning at 7AMish and got home at 9PMish.  Some great friends watched the rest of our kids for us.  We are so appreciative of all the love and support we have received from family and friends. We pray for Gracie to keep both her eyes. We acknowledge how blessed we have been to have such a wonderful cheerful little girl throughout all of this.  Her blood counts today were very good.  Her ANC was comfortably within the normal range for a child her age!  She has recovered so well and avoided so many illnesses, even when her immune system was so very compromised.  We hope for the best and especially that those medical professionals who care for her know what is best.  We have been so blessed to work with such good and caring people throughout all of our visits for Gracie's retinoblastoma treatments.  I think I could go on and on.  We truly do have so much to be thankful for.

Thank you all for your love and concern for Gracie and for our family.  It has really been felt and is appreciated!  

Waiting for the next step

Thursday we have an EUA scheduled to take a look at Gracie's eyes. This could be the last time we see Dr. P before moving to a new doctor.  We are excited that this will only be a day trip to Houston instead of three days of chemotherapy!  Hopefully after meeting Dr. G this next month we will have a better idea as to the future game plan for Gracie's treatment.  It would be nice to know the options that we have anyway.  

The kids are also really excited about DisneyWorld. In two weeks time we will be in the midst of our Make-A-Wish trip to Florida.  The girls are ecstatic. Gracie is excited that we are going to go swimming and eat ice cream!  I am not sure why we need to go to Florida for that part but that is what she seems most excited for.  We have not been to the cancer clinic or had blood checked for a full week now!  It has been great for me but Gracie does miss her friends at the cancer clinic and at the blood clinic.

Gracie is doing so well.  We are so appreciative of the many prayers and love that has been given to us.  We have been richly blessed because of it.