Friday, February 25, 2011

Trying to hold it together....

Where to begin....I feel like I am in such a negative place right now. I am trying to stay positive and to stay focused on the here and now but it is quite difficult right now. I am overwhelmed by so much and the sad part is none of it can be changed. It is what is but that doesn't make it any easier. I am trying not to be mad at God and trying to understand why things are the way they are. I am trying to ignore the information out there and trust that things are going to be okay. But it is very HARD!! I feel like I am trying but falling apart on the inside.

When Lauren was diagnosed I knew Sean and I could handle it. We grew stronger together for her and because of her. Our focus was on making her(and the other girls) happy and healthy. We never had to say it to each other but we knew both of us would do whatever it took to keep her with us. Then the stuff with Kadian started happening and now Sean. I keep telling God I cannot do this alone. I feel bad praying that what is wrong with him is just MS. MS is horrible in itself but relapsing Devic disease scares the crap out of me. The worst part is I know it is scaring him too. What makes it even more complicated is he doesn't fit in the textbook of symptoms for either of the diseases. It's heartbreaking to watch him struggle just to find words b/c he cannot concentrate. It's heartbreaking knowing he is in so much pain, is overly tired, has numbness on a large part of his body, and now is on edge all the time. I feel powerless to all that is going on. I HATE this!!!!

Wednesday, February 9, 2011

"Sometimes we plan, and God laughs" - Annie Camden

We had plans..we had big plans...seems like those plans are slipping away. But I know I have to put my faith in God. I know his plans are bigger and better than any plan we have. The uncertainty of all of this is eating away at me. I feel like if something else goes wrong I may have to be admitted. I feel like life is at a stand still but at the same time just keeps marching on. What was supposed to happen isn't...I am trying not to get not get discouraged but to trust in God. This verse keeps popping up in different places around me..."For I know the plans I have for you," declares the Lord, "plans to prosper you and not to harm you, plans to give you hope and a future."Jer 29:11 (NIV)...I think God maybe trying to send me a message...

Friday, February 4, 2011

one of THOSE days...

Today has definitely been one of those days. What we thought we knew and what actually is seems to be two separate things. The doctor went back and looked at Kadian's genetic sequencing. She only has one of the 2 genes that Lauren has. The doctor said to wait a couple months and they will be able to look at all 54 FAO genes to see if she has a 2nd gene that is VLCAD or MCAD which is causing the Trifunctional Protein deficient. So we have to wait longer to see if she actually has a fatty acid disorder or she is just a carrier that proves, with blood work, that it is possible to be a carrier with symptoms. This is so frustrating.

We also found out today that Sean has a new lesion on his spine. This means that he has had 2 separate episodes of lesions. The doctor said he is pretty certain that he has MS but he has atypical symptoms. The girls disorder makes him question maybe that it maybe a disorder called Adrenomyeloneuropathy. This disorder has do with an elevation in very chain fatty acids. The doctor order a blood test to see if his are elevated. This disorder can cause spinal cord lesions. The doctor is also sending him to Bethesda,Maryland for further testing. I just wish for once things were normal. Definitely been a hard day!!!

Wednesday, February 2, 2011

Genetics is so confusing!!

I talked to the doctor that did our genetic mutation stuff. He said they are going to look at Kadian's genetic mutation stuff again. He said her symptoms of bladder/bowel dysfunction isn't due to LCHAD but the fact that her long chain fatty acids are elevated makes them want to look at things again. He said there is a slim chance that she may have a gene from another chain(short,medium, or very long) that is causing her long chains to not function properly. He said they will look at things and if they can't figure it out then we should do a muscle or skin biopsy. He said this way they could also have grow the skin cells and have them to test as they find future disorders. I am praying this will give us some clarification on all of this.

Tuesday, February 1, 2011

Update on everyone

It has been a while since I have blogged last. So much has happened. Between the girls and Sean being laid up things have been hectic.

Kadian has been Dx with LCHAD. Before her second deflux surgery her acyl-carnitine profile showed her long chain fatty acids are elevated. She is on several medicines now to try and help. We have stopped biofeedback because it isn't helping with her being so constipated. We saw a new GI doctor today. He basically said that if she doesn't get a gtube she has to get a cecostomy tube. It is a tube that is placed in the colon to help with constipation. We are waiting to hear back from the genetics doctor to find out if we are still going to try the NG tube to see if that helps her. I guess this is a trial run to see if it will even help with her issues before they decide whether or not she will get a gtube. I am hoping he will call back tomorrow so we can decide what to do next. She saw the neurologist last week. They are going to do a full spine MRI on Saturday morning. They are checking to see if she also has spinal lesions also. The first MRI she had was just her lower spine. She is going to back to the neurosurgeon on the 16th. Hopefully the MRI will indicate if the tumor on her spine is larger and/or to see if they believe that it has anything to do with what is going on with her bladder/bowel. She hasn't gotten better since the last time we saw them. I am not sure what will come of seeing them. I am hoping we have some answers soon. She has another UTI but constantly has them. Her cardiology and ophthalmology went very well. She has no thicken of the heart and very little signs of Retina Pigmentosa of the eyes.

It blows me away how blessed we are that she has survived this long without us knowing she has LCHAD. Most babies die within the first year when it is unknown. This Sunday she will be 8 years old.

Lauren and Emily~Lauren and Emily both have strep throat and are on antibiotics. Lauren is very hoarse again. She is doing okay with being sick. Hopefully the antibiotics will start to get rid of it and she can talk normal again. Emily just has an upset belly from it but I think it might be the antibiotics.

Sean~Sean had his ankle surgery earlier this month. He still has about 3 more weeks of not being able to put any weight on his ankle. The doctor didn't seem to positive about the surgery working. We will know in 3-4 months if the surgery worked. If it doesn't then he will have to have his ankle fused to his leg. This means he will not be able to bend his foot. Friday he goes back to the neurologist. We will see then if he has any new lesions. His hand and arm are completely numb again. It hasn't spread to his other arm yet. He goes back to work tomorrow so we will see if his severe fatigue happens again.