GENETIC RESULTS

It seems like forever we've been waiting. Jeff truly has. From the moment Dr. Davidson confirmed Madeleine's INI-1 gene deletion, he has worried himself literally sick over the thoughts of what if we caused this? how could I live with myself, my daughter losing her life? what can I tell her mother that would comfort her if it's her genes?...

We had already discussed and decided that if our results are positive, if by some reason one of us has carried this through the family tree undetected, that we would only grow our family by adoption. Though this decision had been made, I don't think we had quite come to terms with it. (On a side note it is very likely we will adopt anyway, thanks to this experience). This experience has taught us so much. We have watched other families struggle with more than one child in treatment, with the unknowns of what's causing their children's illnesses, even losing a child before understanding their genetics. I know now too why our oncology team wants us to meet with the genetics counselor, just to have the updated high school biology knowledge of how genetics work in the body. It helps us to understand how these things happen when it all seems senseless.

That being said, Dr Davidson called late Tuesday afternoon to check on Madeleine. I turned on the speaker phone so she could talk to her (she calls her Boo Boo) and she could hear Madeleine cooing back at her, though she didn't cooperate much in showing the doc her latest affinity to screaming at the top of her lungs in addition to her normal babble. 

We don't have another appointment with her until next week, the first time we've gone longer than 9 days without seeing her. She called to tell us the results came back from Philadelphia......she wanted to call us right away....because they are negative.

Annalise will be okay; she is a normal healthy child that will not be compromised by this monster. Any future children Jeff and I conceive will likely not be compromised by this monster. Madeleine is unique, she is quite literally the only person like her, 1 in 7 billion. As if an elephant had been sitting on his chest since February,  her Daddy exploded into tears of relief.

This is just one of many reasons why research is so vital to our family, to our Madeleine, and to all children facing AT/RT. It's an absolute monster of a disease. No two children are exactly the same, which make funding for research even harder to come by. We are in old ancient Greece where inferior children were cast away and individuals with the best genes may leave the most offspring, or so the reasoning must be for these children - they are not worth saving. Well, not anymore. September is Childhood Cancer Awareness Month each year and I hope to be able to share everything I have learned and am learning about how to Support, Hope, Research, Fund and Thrive for these kids. I want my Madeleine forever.

please, please pray for little Eric James Baron battling ATRT at NYU  in the ICU, he is very sick.

Another Lesson in Faith?

I can't decide if what's transpired this morning is a big mistake or a blessing in disguise.

We had a 9:00a appointment this morning to meet with a genetics MD to discuss Madeleine's genetic diagnosis. Lately both of the girls have been having trouble sleeping completely throughout the night. Needless to say, they both awoke individually in tears (in separate bedrooms) around 5am, and we all literally slept right through our appointment.

Jeff & I had been discussing this appointment for the last week; was the timing just really off? 

She has completed treatment, and whatever we do know is that the treatment should be sufficient in preventing a relapse. From the medical perspective they can not tell us absolutely for sure 100% that the ATRT won't/can't return. But then they told us in January that there's only a chance she would survive at all, and here she is. Lesson #1 in faith.

The INI1 gene is so complicated and we can only begin to try to understand everything that it means for Madeleine. In some ways- many ways- too much information is a bad thing. At least while we were in treatment and since we've been home, a trip to Children's Hospital of Philadelphia has been out of the question (this is where the leading INI1/ATRT geneticist is located). There isn't much known for sure, is what we've been told. From our Facebook support group of ATRT parents, it seems that many of those kids do not have the mutation or deletion. The only thing we really want to know is, based on the fact she has the genetic mutation, does this increase her chance/ensure she will relapse?
We are extremely thankful to all be under one roof, to make dinner, to just be home; at the same time, the anxiety and stress are still very much the same, if not worse. Welcome to cancer survivor hell, where now that the imminent danger is gone, the very long wait-and-see period settles in. We don't stop living our lives, in fact we're still trying desperately to rebuild our life; rather, we live like we/she were dying, not taking a moment for granted. It's easy to say that, hear that in a song or a cliche, but for us it's REAL. Her tomorrow isn't guaranteed to us. Although none of us really are...but for Madeleine...God, we pray she survives this FOR GOOD, FOREVER! and ever. That's all we really want to know... and they can't tell us that. Her next MRI is scheduled for the end of September. As we watch her fuzzy hair grow in like a buzz cut, it's hard to not be frightened. To see her hair grow in that quickly and be reminded that THAT is how fast the disease grew into a tumor. When that scan comes back clear, and the next one in December, and the next one in March...perhaps then the anxiety will begin to subside. It's like a burning lump in the back of the throat that never really goes away, something like persistent heartburn that there is no tums for. It's aching fear consuming our insides. We still very much need prayer- prayer that some sanity comes soon, decompression soon. I hate that this has or will become detrimental to our future. We've overcome so much, yet it still feels like the longest freaking marathon in history.

UCLA Welcomes Madeleine for Cycle 4 (Transplant #2)

April 13

Good Morning! For our loyal followers, I apologize for the online hiatus over the last two weeks, though I think you'll forgive us in knowing we got to spend 12 whole days at home as a family! Madeleine was discharged late in the afternoon Monday April 9 and she was admitted Sunday afternoon April 22. Coincidentally, she's beginning Chemo Cycle #4 on the same date as last month, the 23rd. I like this because my calendar-focused brain can very easily see when we could likely go home again. Monday Madeleine received both a blood transfusion and platelets to get her started off "with a full tank" in preparation for the chemo that began around 6pm and will run for 6 hours Monday and Tuesday evenings, a break on Wednesday and Thursday, and she will receive her stem cells late Thursday or likely Friday morning. There has to be sufficient time after the last chemo infusion and the stem cell transfusion to ensure the cells are able to do their job. So far she's exactly herself with no adverse effects; the only lasting effect has been some vomiting since the last cycle. She has been on an anti-nausea medication called Zofran since last month and had to stay on it while at home or she vomited without fail, it was very strange. But if every six hours she needs a little medication to keep her food in, so be it - it was very manageable.

So, the recap: Dr. Moore is the head of our Transplant Team (Madeleine has moved under the BMT group though her primary oncologist is still Dr. Davidson) and he has mentioned to us that autologous transplants are typically the easiest they see, where patients recover quietly and relatively easily considering everything else they've been through. There is still the conditioning chemotherapy where patients can have significant adverse reactions to; however, the stem cell rescue contributes wholly to the recovery. During the induction cycles, it took Madeleine about 9 days to really hit rock bottom with her counts and feel really crummy, and then another 10 days or so of being neutropenic before her counts began to rise, experiencing "easy" side effects like nausea/vomiting, to the really bad when she was septic. We felt as though after Cycle 2 she was really due for a good cycle. Cycle 3 came and went without a hitch! By day 14 she was really ready to go home, though we needed to stay for a few more days observation on her labs and for her follow up kidney function test (the kidney test is done every month to check the function of her kidneys that could be compromised as a result of the chemo). A few days after discharge we came back for an outpatient audiogram, which she also gets every month and requires her to be under sedation because little babies cannot hold still for the duration of the exam. To date, the doctors are amazed that she has yet to show any signs of hearing loss. This is truly AMAZING, considering they told us it was almost a certainty that she would have hearing loss in the speech range and likely need hearing aids throughout her lifetime. We're almost there... almost to the finish line where we can breathe a sign of relief that our baby girl is healed, is cured of this terrible disease and has won her most victorious battle! She is MY HERO.

The time at home was amazing =) the girls are so in love with each other that as a mother I can't express how much joy I feel to watch my daughters talk to one another, interact and play and LOVE each other. Annalise was SO HAPPY to be with all of us together. I burst into tears at random times just overwhelmed with emotions to reflect on how we have all sacrificed and endured this journey together at all expense, and Annalise is no exception to that. How I thank God that my children are young enough that they won't remember this hardest, darkest period of our life, yet will retain the love and adoration for each other that grows exponentially each time they are separated and reunited. Annalise wants so bad to help take care of her baby sister and she has those opportunities when we're home. Madeleine is incredibly captivated by Annalise that she follows her with her attention completely focused on her, she laughs at every little thing she does, and raises her baby voice and screams to express her own joy and happiness. It's nothing short of magical to witness.

Life, as it should be :) 4/11/12

So the days at home were spent relaxing as much as possible: we probably never turned off the TV! But it was great to have those lazy days in pj's together as a family. We had a few days of visitors, a few days at the Dr's office for follow up, lots of home cooking and baking, and plenty of play time on the floor learning to use our muscles. The days seem to fly right by especially with doctor visits sprinkled in, but we were all very happy to be home together, sleeping in our beds, and playing together.

Hope for Madeleine Benefit

Other updates: the Hope for Madeleine Benefit in Grass Valley was a HUGE success!! My mom, sister, grandparents and nephew all attended on our behalf on April 7th, and the amount of love and support within those walls for those 5 hours was tremendous. Over 60 businesses - yes, I mean SIXTY - businesses contributed to the silent auction and raffle. That's incredible!! I am so proud to be from the Gold Country, a place where the small town community still exists and children make get well cards for Madeleine and encouragement cards for Annalise. The event in total raised over $6,200 to help our family care for Madeleine. So humbly and graciously we thank the Grass Valley/Nevada City community and everyone who helped to make the event.

"Madeleine's March" turned into "Madeleine's March & April" at Cold Springs Middle School, and the administration has decided to hold a student assembly on May 8th to announce the fundraiser total and present my mother with the proceeds (they don't do this for every fundraiser the students organize and participate in so it's to be a very special event). I am so proud of my sister Jordyn, who has become very competitive with her classmates to see who can raise the most money, but at the heart of it, their intentions are good and we have received MANY get well cards from the students and even comments on the blog that they are thinking of and praying for our Madeleine.

Lastly, it seems that in the next couple of weeks we should be able to move forward with the labs for the genetic testing, thanks largely to the fundraising events organized on our behalf. Jeff and I will both have our blood drawn and sent to Philadelphia for the genetic testing experts for the INI1 gene deletion to hopefully make a determination that could change our lives. We're hoping that the testing will prove that Madeleine's gene deletion was a sporadic, random event and that neither of us carry any sort of genetic mutation or combination of our genes have caused the predisposition. Essentially we're hoping to hear that we can have more children if we desire that are not at any additional risk, and more importantly, that Annalise is at no risk at all. In due time we will have the information and Dr. Davidson has made it very clear that we have continued with Madeleine's therapy in the effort to ensure the disease CAN NEVER COME BACK; that is the goal, that is what we have been doing every single day since January - fighting the good fight so Madeleine will never have to endure this ever again. We appreciate all the continued prayers, at the very least until we can bring her home for good. But I have a very good feeling that this little girl that we have shared with the world will be in many people's prayers forever, like their own little angel who has made a difference in their life, one way or another.

One Step Forward, Two Steps Back

Friday was Madeleine's 5th MRI. This one was to confirm the success of the tumor resection. Within two hours of completing the MRI, both the neurosurgeon and her oncologist were in our room to share the news. By most standards, the surgery would be considered a complete success with 100% removal: we learned there is a very small 1cm x 1cm piece of the tumor left in the cavity. Needless to say we were very, very pleased that Madeleine came out of the surgery just as she went in and had zero adverse effects from the surgery. The fact that there is still a small piece of tumor remaining does not discourage us and we are moving forward with the next cycle of chemo and counting on it to shrink/dissolve it based on the success of the first cycle. We were discharged late Saturday afternoon and she is now resting comfortably at home for her post-op period before we go back Wednesday to have her sutures removed and begin chemo. 

The second bit of news is that as a result of the rarity of the AT/RT diagnosis, Madeleine's tissues were sent to Children's Hospital in Philadelphia where they are leading the genetics research and testing. After several weeks, we learned the outcomes of her test. Madeleine is positive for a genetic mutation, the INI1 gene, which has been associated with rhabdoid tumors of the brain, kidneys and abdomen. This gene is apparently for tumor suppression in the body; it keeps the body from allowing abnormal cells to develop and grow. Madeleine's gene does not protect her. As a result of the mutation, Madeleine is predisposed to these tumors. Right now while she is undergoing chemotherapy for the tumor cells in her brain, it is not likely that she could have new malignant cells growing. Even after this nightmare is over, she will continue to be under very close observation every 2-3 months and 6 months until she is 5 years old to catch any new rhabdoid cell growth. After 5 years old, she should be fine, until she is an adult and is making family planning decisions.

This news is awful. I can't begin to describe how we truly feel about this. I feel that if we understand it and  come to terms with what we have to deal with, not unlike the prognosis given, we cannot dwell or even really talk about it. By not acknowledging this fact with words, we are protecting her; what does not come out of my mouth does not become reality. 

Today Madeleine is so much more like herself. She's had to be on a steroid since the surgery to control the swelling in her head that ridiculously increases her appetite and the nurses tell us is extremely mood-altering in older children, explaining her incessant irritability - this is her equivalent to throwing fits. She's nearly done with that medication and it will take some time for her blood pressure to come down completely as a result. She also had to be on an antibiotic that gave her diarrhea in every single diaper, poor thing. As of this morning, the wound protectant they gave me to use as diaper rash cream is working and she's not nearly as miserable from her raw bottom. Today she is talking and laughing, following your face better and staying awake for longer periods without being fussy. I hope the next couple of days at home she will eat like a horse and go back with some additional weight before chemo and be the happy baby we want and see.