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!!!!

"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 angry...to 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...

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!!!

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.

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~
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.

UGH!!

I don't even know where exactly to begin. Yesterday seemed to be so stressful. We found out that Sean and Kadian both may have to have surgery. Sean was sitting in the chair Saturday and went to stand up and his ankle gave out. He thought it just needed to be popped. He was limping around till Monday when he went to the DRs. They told him that he has bone fragments and bone spurs. I guess the radiologist has to read the xray and they will determine from there what he needs to do. This is the foot he broke when we lived here before. The doctor then said he may need surgery but opted not to because he was on sea duty. They should have just fixed it then. This whole time he has issued with it but was told it would get better.
I took Kadian back to the Urologist yesterday. The good news is they have the equipment for the Biofeedback so as soon as they get it up and running she will be the first one to use it. The bad news is she is very constipated(to the point of being impacted) even after being on Miralax twice a day along with Ducolax. She will be on a crazy medicine schedule for the next couple of days that may make her very miserable..that's even if she tolerates the first medicine and I can find the right dosage(as of yesterday none of the pharmacy's around here have it.) She is on antibiotics till she see's the actual Urologist(she see's a NP who specializes in helping kids with incontinence). The Urologist will determine if she needs to have the more complicated surgery to fix her Ureters. She is definitely still having urine reflux so the deflux surgery has definitely failed. The NP said her main concern right now is to prevent the 105 fevers. They can cause damage to her kidneys. She also agreed that Lauren's geneticist should do LCHAD sick labs on Kadian during the UTIs. She said it is not common for UTIs to cause leg pains. She has only experienced normal UTI symptoms a couple times. She is kind of baffled by that. She said a high fever could cause muscle pain but there have been times when Kadian has had a UTI without the high fever. During the low grade fevers, she has complained that she can't walk. Hopefully he will be willing to look into it. We won't find out till August 10th if she will need the surgery.

Update on DR appts.

I figured it would be easier just to update everyone on everything going on on here.

Lauren:
Lauren's cardiologist appt went well. She goes once a year to make sure she isn't developing a fatty heart and/or cardiomyopathy. The DR said her heart looked beautiful. It is within normal thickness and function. He was very happy that she is doing so well right now. Hopefully it will continue. She has been having leg pains alot lately but she is still fighting a cold. It seems to be lingering still. It's not horrible but just enough for it to make her legs ache and her cough at night. Her next appt will be with Opthamology. She can get something called Retina Pigmentosa. It is where the pigment in the retina breaks down do to the lack of fat in her diet. So we go yearly to insure that isn't happening. She hasn't had any symptoms of it yet.

Kadian:
Kadian has another UTI. I spoke to her Urologist the week before last. They are going to do her Biofeedback there. We are having such a hard time with Tricare finding a preferred provider to do it. They are waiting on the equipment to come in. She will be the VERY first person to have it there. When the company comes to teach them how to use the equipment they are going to use her to demonstrate how to use it. We are REALLY hoping this will help. They are also going to do another procedure on her. I can't remember what she called it. But it is b/c the Urologist thinks the Deflux(surgery where they put a jelly-like substance in her Ureter tubes, which are the tubes that drain the urine from the kidneys to the bladder, to prevent urine from going back into the kidneys and causing infections. Each time she has these horrible UTIs they can cause the infection to go into the kidneys and destroy her kidneys. )failed in Kadian's case. She said there is a 20% chance of failure with it. I don't know what will happen next if it has failed. We are hoping that once we can get her daytime incontinence under control that it will help with the UTIs. She goes back to the Urologist in July.

Sean:
We still have no idea what is wrong with Sean. The specialist at the Mayo Clinic said she wasn't sure if it was MS or not. The Navy neurologist ordered all the tests she requested and he did all but the MRI at the appt. Some of the stuff she ordered didn't seem to fit with what is going on with him but I guess she wanted to make sure every thing was covered. The neurologist said he wasn't sure if all of this was caused by a virus. He said it is possible that it could be. They are going to do a MRI in July and see if there are more lesions or if they are worse. He said if they haven't changed and he hasn't had another episode of MS then they will return him back to full duty. At that point he would definitely feel it was viral. We are hoping that it is. If so, then he can re-enlist and do his last three years in the Navy. If it is MS, then they will most likely medically retire him at the end of this contract and we can keep Tricare. There is a possibility that they would not medically retire him nor let him re-enlist which would be a horrible thing for us. Yes he will be able to get a job afterwards but we won't get Tricare. We will go broke from the cost of medical care for all of us. Lauren's problems alone would cost ALOT. It is sooooo stressful not knowing what is going to happen. All the plans we made leading up to him retiring at 20 and after are so up in the air at this point. I hate the uncertainty.

BUT I know that God has a plan for us. I know I need to stay focused on what God's plan is for us. We lost alot of money when all this happened but we also have been able to stay together. Had this not happened ,Sean would most likely be living in SC(on shore duty) while I lived here till our house sold. We have already lived apart once(beyond the normal sea duty patrol). We don't want to do it again. I am hoping that we can stay here till he retires. We are waiting to hear back from the detailor about what his options would be if he is returned to full service. Please pray for us as we go through all of this.