Brain Dump.
Met with the renowned Dr. Shoffner.
The man is a Neurologist AND a Geneticist.
Highly specialized in Mito.
Brilliant guy.
Looked like a mad scientist.
Had his ear pierced.
I thought you should know.
Here's my brain dump on the meeting in random order:
1) She definitely DOES NOT HAVE Cerebral Palsy. He said it is a garbage can term to get treatment approved from an insurance company. He said it's like going to a car lot and saying, "I want to buy a car." It's so basic and generic and she doesn't fit the criteria for CP.
2) Because her MRI is normal, we know that she didn't have a stroke, and there was no trauma in birth that led to brain damage which caused her issues. Therefore, it HAS TO BE genetic mutations.
3) He mentioned mito several times in referring to her condition, however, he did offer a small, slight glimmer of hope that the tests would also reveal if she has another non-progressive genetic disorder.
It's a glimmer of HOPE, and I'll take it!!!
4) If they are identical twins, she had the mutation after the egg separated. There is also a chance that they are fraternal and Sofia is healthy because she has her own DNA. They are testing Celia for that because that is another puzzle piece. He also was not concerned at all about Sofia possibly having the genetic disorder as well. He did not feel she would warrant any testing. I'll TAKE THAT TOO!!!
5) Tomorrow she will have a muscle biopsy, a scraping of skin for cells, blood work, urine taken and a spinal tap. It will NOT be a fun day for my girl.
6) The results will be in in 6-8 weeks(possibly up to 12 weeks to allow the cells to grow- whatever that means) and we will go to our Neurologist (not Dr. Shoffner) to go over the results. His office will call us however, as the results come in, if there is treatment we can begin right away that will help her, he won't wait until all the results have been compiled before starting any therapies/medications.
7) We will get a 75 page report on Celia and how her little body works and follow up with him on Sept 20th to discuss what to do next.
8) He told me not to google. HA! Did my husband tell him to say that?? It is like looking for a needle in a haystack and not knowing exactly what kind of needle you are looking for. He said that this is such high level genetic testing that I will find nothing on the internet to help me and will only make me worry.
Ya' think?!?
9) I'm exhausted. Prayers are greatly appreciated. We are doing the divide and conquer approach tomorrow and Mommy's taking Miss Celia this time. Yay me!
10) We are mentally ready for answers.
IF she has mito, it is progressive in most cases. There are literally hundreds of disorders that fall under mitochondrial diseases, so we won't know for sure which one she has and how long she can live until after we get the results. Many children do not survive until age 10. Most mito diseases progress with illness, so you can catch a cold and lose the ability to walk, talk, eat, process urine, etc. And you don't regain what's lost.
As you can see, we NEED to know if she has this.
11)Did I mention prayers are greatly appreciated? Because they are. Really.
12) We are praying for God to give us grace to accept whatever package our lil" Miss Celia is wrapped in. And know that it's what HE has allowed for us to deal with and that HE will comfort our feeble hearts as we trudge through each step.
It's nice to say, but harder to do.
I want to be a better person because God gave us Celia.
Work it in me Lord.
"If you faint in the day of adversity, your strength is small."
The man is a Neurologist AND a Geneticist.
Highly specialized in Mito.
Brilliant guy.
Looked like a mad scientist.
Had his ear pierced.
I thought you should know.
Here's my brain dump on the meeting in random order:
1) She definitely DOES NOT HAVE Cerebral Palsy. He said it is a garbage can term to get treatment approved from an insurance company. He said it's like going to a car lot and saying, "I want to buy a car." It's so basic and generic and she doesn't fit the criteria for CP.
2) Because her MRI is normal, we know that she didn't have a stroke, and there was no trauma in birth that led to brain damage which caused her issues. Therefore, it HAS TO BE genetic mutations.
3) He mentioned mito several times in referring to her condition, however, he did offer a small, slight glimmer of hope that the tests would also reveal if she has another non-progressive genetic disorder.
It's a glimmer of HOPE, and I'll take it!!!
4) If they are identical twins, she had the mutation after the egg separated. There is also a chance that they are fraternal and Sofia is healthy because she has her own DNA. They are testing Celia for that because that is another puzzle piece. He also was not concerned at all about Sofia possibly having the genetic disorder as well. He did not feel she would warrant any testing. I'll TAKE THAT TOO!!!
5) Tomorrow she will have a muscle biopsy, a scraping of skin for cells, blood work, urine taken and a spinal tap. It will NOT be a fun day for my girl.
6) The results will be in in 6-8 weeks(possibly up to 12 weeks to allow the cells to grow- whatever that means) and we will go to our Neurologist (not Dr. Shoffner) to go over the results. His office will call us however, as the results come in, if there is treatment we can begin right away that will help her, he won't wait until all the results have been compiled before starting any therapies/medications.
7) We will get a 75 page report on Celia and how her little body works and follow up with him on Sept 20th to discuss what to do next.
8) He told me not to google. HA! Did my husband tell him to say that?? It is like looking for a needle in a haystack and not knowing exactly what kind of needle you are looking for. He said that this is such high level genetic testing that I will find nothing on the internet to help me and will only make me worry.
Ya' think?!?
9) I'm exhausted. Prayers are greatly appreciated. We are doing the divide and conquer approach tomorrow and Mommy's taking Miss Celia this time. Yay me!
10) We are mentally ready for answers.
IF she has mito, it is progressive in most cases. There are literally hundreds of disorders that fall under mitochondrial diseases, so we won't know for sure which one she has and how long she can live until after we get the results. Many children do not survive until age 10. Most mito diseases progress with illness, so you can catch a cold and lose the ability to walk, talk, eat, process urine, etc. And you don't regain what's lost.
As you can see, we NEED to know if she has this.
11)Did I mention prayers are greatly appreciated? Because they are. Really.
12) We are praying for God to give us grace to accept whatever package our lil" Miss Celia is wrapped in. And know that it's what HE has allowed for us to deal with and that HE will comfort our feeble hearts as we trudge through each step.
It's nice to say, but harder to do.
I want to be a better person because God gave us Celia.
Work it in me Lord.
"If you faint in the day of adversity, your strength is small."
Proverbs 24:10
Prayers coming your way. I could say all the little God witty sayings, but I won't. You know them all. Just be calm and know that many, many friends are thinking and praying for your family daily.
ReplyDeleteThis is very interesting and very scary. I will definitely pray for you and Celia and your family. Will you be testing the girls to see if they are identical? I can't help but wonder, if they are, if a bone marrow transplant may help, even if experimental, if the tests come back positive for a nasty disease.
ReplyDeleteI will also pray that you and Celia get through tomorrow. Spinal taps are horrible, very painful. I hope they give her something to ease it. I hope you can post how you coped once it's over. I'll be facing a good round of diagnostics with my daughter soon and I'm already dreading it.
Oh Cristy we have been in your shoes and I am so sorry. We are praying diligently for you, Greg, and sweet Celia. Praying for Celia tomorrow. Children are resilient and she will be over it before you, I promise! ;)
ReplyDeletePraying for you and your sweet, sweet family. Please let me know if there is anything you need. Please keep us updated as much as you can.
ReplyDeleteYou know you all have our love and prayers!
ReplyDeleteWhere do I begin? We knew this was coming but now that it is here, it is really hard. G'pa ignored the Dr's warning and googled anyway. The Dr was right, lots of info and gobble-dee gook and no real information, at least nothing we can hang our hats on. So the thing to do is what you asked for PRAY! and be patient (you know what I say about that). It all comes down to leaving it in HIS hands and waiting. We are with you in our prayers. This AM I will be at my B study and will once again start the pchain going. It will be all over the world by tomorrow. May He continue to hold you all in the palm of His hand!
ReplyDeleteI am glad you are taking the doctor's advice about not googling. I know its hard to wait, but getting accurate news is better than worrying about all the things in the world at once.
ReplyDeleteI'm praying my friend, and will be here for you no matter what.