Friday, June 3, 2011

Newest Update......

Hi Everyone,

I am writing this update so I can apologize upfront if I am a little distant. I am taking some time to just "feel badly" and am hoping to get back to another new normal soon. I am also not writing this for anyones sympathy. As I stated when I started this blog, it is for me. It is a document for Brigitte to see when she is older, but also as an outlet.

Over the last few months, it has become apparent that Brigitte's condition has been slowly deteriorating in certain areas. When we went back inpatient in April to have the line placement it was the beginning of a new reality for us. While we were there, the Director of Metabolics approached us, along with Brigitte's Cardiovascular Geneticist. They wanted to do a "team" consult on Brigitte and talk to us about a few things. This talk turned into 3 hours of bedside conversation. Intense bedside conversation. It ended with a slew of blood and urine being taken from our sweet girl and an apology. "We're really sorry, but we are going to take care of her as best we can."

Over the last few weeks, new information has been trickling in. We have also had some new symptoms starting. Some that make us very uncomfortable, others just a subtle warning that things are changing.

We had two big appointments this week. One was a follow up with metabolics to go over more information and to report results of the lab work that has come back. The other was a multi-disciplanary (all her specialists) care conference called for by her hospital, not by my husband and I. Instant red flag. When the team wants to talk to you, you know something is up.

I will cut to the chase. Brigitte is finally being diagnosed with Mitochondrial Disease. We are not sure whether this is a primary mito or a secondary (the result of something else). We have been asked permission for two prominent doctors to write a proposal for full genome sequencing to be done. This alone is over $300,000 and has to be approved by the hospital. Only certain centers across the country do it and it can take years. There are over 300 billion pieces of DNA that need to be looked at. The doctors feel that she likely has two genetic defects and that the combination of the two are causing her mitochondria to malfunction. We have only identified the first. What does this mean?? It basically means that Bizzy's DNA is a train-wreck that is screwed up at a cellular level which in turn causes problems in every organ system in her body.

What do you do? What happens? There are no easy answers to any of these questions. The first thing we are doing is slowly starting her on a "mito cocktail." This is a combination of vitamins and enzymes that help the body make energy. There are usually 12 different medications that make up the cocktail. We have opted to start one at a time so we can be sure what caused the problem if her body were to have a reaction to something. It will be a long process. There is no cure for Mito, but this can help.....and vitamins and enzymes can't hurt, so we are game! After that, we are just treating symptoms as best we can. We are going to have the PACT team take a more active role in her care. This is not hospice. It is a team of people that will help us make decisions that best fit a quality of life aspect versus a quantity of life. Brigitte is still a full code and by no means says we are giving up. Just the opposite. When you hear from a room full of doctors; all who have their head down and have a hard time looking you in the eye, tell you your child has a progressive disease it is scary as hell. But, if you know me, you know I don't quit or give up that easily. I should have gone to law school, not my husband because I like to fight like hell. Which is just what I am going to do for Brig. It's funny, as I am writing this my email is going crazy with messages from her team. I am thankful that over the last few years I may have been labeled as "that mother," but it has been apparent over the last two months that this isn't a bad thing. I am a well respected part of her team and her doctors value my input. We have a few here and there that don't prescribe to our "plan" but we are weeding them out when we have good people to replace them with. I would also be remiss if I didn't acknowledge the "team" I have put together at home too. I have family. Some so amazing I wonder how I got so lucky to have them in my life, others not so much....that drop everything and do what I need. They know who they are. They know why I can't name them by name for the backlash from those who I don't name will be far harder to deal with than hearing "your daughter is dying." Fuck the rest of them who only seem to want to "deal" with us when we are in the hospital. I have an amazing friend, who's daughter died last year, but she is so fantastic that she doesn't let me do ANY of this by myself despite her own hell she lives every single day. She has guided me when I am right and has no problem telling me when I am wrong. Karen, you rock! I have an amazing nurse at home that lets me know when its not ok to let simple things go by because I don't "feel like" heading to Boston. She was the one who picked up on the seizures that picked up in intensity and led to Brig finally being put on medication. She lets me know its "OK" for me to have alone time. Maria, we LOVE you. You are family! We have an amazing community that has taken Brigitte under their wing and thinks of us during every season....not just football and cheer. We love being part of the Wildcats and East Celebrity Elite.

So, as hard as it is to think that I am going to outlive my daughter, I have to live in the present. She is kissing my arm and has said "Mommy, I NEEEEED you" 100x today.....yet, she has no idea how much I need her. We will have times when we spend days in the hospital trying to "fix" the latest crisis.....but we are going to "live it up" as best we can, for as long as we can! My dad sent me an email today. It said "Brigge is a fighter. Always has been. Always will be. I believe in her strength and her perseverance." I do too, Dad. I do too. So we will fight the good fight for as long as she'll let us and always remember we aren't "Saving Brigitte" nor have we called her "The Christmas Miracle" for nothing.

1 comment:

  1. Shann,
    My girlfriend actually saw your post and thought it was very similar to my story.. it was..
    I am so sorry for what you are going through, but unfortunately know EXACTLY what you are facing. My heart breaks for you.. My daughter Emmas passed away in April to Leigh's Disease at Children's in Boston and we were very involved with the PACT team. If you need to talk about anything I am here. Are you on FB? There are a lot of moms on there and it is a good resource (unless you're already there) I am listed under Nicole Delbou Dalton.. Again, I am so sorry..