Update on everyone

We are kind of at a stand still with everyone. We are waiting on our insurance to figure out all the stuff with Kadian. It is so frustrating because we need to figure out what is wrong with Kadian. When we went to the Urologist last week the NP said she feels what is wrong is progressive and not functional. She said it is not common how quickly she has gotten worse. It was hard to hear that even though mentally I already knew that. We are going to get a second opinion from a Neurosurgeon in Savannah to see what he says about her spinal tumor. The one at John Hopkin's said he would de-sect it but of course he isn't covered by our insurance. If her muscle biopsy for Mitochondrial disease is normal, then we will move forward with having someone de-sect the tumor to see if it helps. We may have to do fundraisers to raise money to have the surgery done but I want to make sure the person cutting into her spine is someone I trust.
Lauren is doing pretty good. She saw the orthopedic surgeon a couple weeks ago. She believed that doing the heel cord release would help her. She believes she will be successful with the surgery. Lauren wants to have it done. The doctor said that will help a lot. She can't wait to wear boots. We are unsure when they are doing the surgery. She has to have an anesthesia appt first. She goes next week for her genetics appt.
Sean is doing okay. We are still waiting on the Navy for them to decide what they are going to do. Hopefully we will find out soon so we know what to do about our house and his job. I have a feeling they will come back at the very last minute to tell us what's going to happen. It is so scary not being able to have a concrete plan. Sean's MS has been about the same. He constantly has symptoms of it but I guess that is part of it. He has had necrosis from the injections he has to give himself. It has basically killed his skin in that area. It seems to be the side effects for all the inject-able medicines.

To pysch or not to pysch

I haven't updated recently just because it feels like so many things are going through my mind lately. I am afraid my thoughts will not make sense and at times may seem harsh.
A doctor and some people in my life has said that I need to seek counseling because of everything in my life...that I need someone to talk to about all this. I am unsure if I should...I guess it's more of a question as to will it help....will it change anything...will it make anything better. I don't know if it would. I don't feel like there are many people who quite understand what I have been through or am going through. I think the person will just say what every other person has said.."oh wow!! How do you do this...your so strong...that's so sad". Maybe I'm in denial and they may actually help. I don't feel depressed or anything...just overwhelmed and frustrated with the whole situation with Kadian.

memories....

Ever have moments that play out in your mind over and over again? It's like that moment is forever etched in your mind...it is like a tape that plays over and over again. For many of us with kids with a FAOD we can all go back to that phone call or doctor's visit.

I had went home to take a shower, do some laundry and try to spend some time with Kadian while Sean stayed with the twins at the hospital. We didn't want to leave them there alone so we would take turns taking care of them. We were exhausted, scared, overwhelmed...so many things at that point. The details of that day and the days to follow will be forever etched in my mind though. I can't remember much of what I did last week but I don't think I will ever forget that day 6 years ago.

The phone rang... I remember the confusion I felt as the woman on the other side of the phone TRIED explained to me that something was "abnormal" on Lauren's newborn screening. I can still hear the woman's voice explaining she did not know what any of it meant but that I need to contact her doctor right away. I remember trying to explain to the nurse at the hospital what the woman had told me.

I remember looking at my precious little pink ball of joy and thinking dear God I hope this is all just a dream. I can still see the Neonatologist face as he explain in medical terms what was "wrong" with my baby. I remember having no clue what it all meant and what it all would mean later on. I remember praying that they were wrong...that we would wake up from all of this and they would be wrong.

It amazes me how much of our life changed in those few days. Many would have thought just having twins would have been life changing. It paled in comparison to hearing those words. I think back and realize now that God was preparing us for what was to come. Each and every moment had a purpose...has a purpose.

Trying not put all my eggs in one basket

Hope is some extraordinary spiritual grace that God gives us to control our fears, not to oust them. ~Vincent McNabb

Recently I was reminded of how much hope impacts my life. Yesterday, as I read an email from a doctor I realized how hopeless I really was. As I walked out of one of Kadian's appointments two weeks ago I think I resigned myself that things would always be the way they were. I would have to just ACCEPT that she was always going to have the problems she does. That it would never get better and there was nothing I nor any doctor could do to help her. That she would always remain a medical mystery. That hopefully, one day she would just out grow all this. Logically I know she most likely won't "outgrow" it because as time goes by she is getting worse. I lost hope... I resigned myself that she would never live without the embarrassment of wetting her pants. Imagine being in 3rd grade...remember the need to fit in...the need to be just like everyone else...the need for your friends to accept you. My heart hurts for her because I know how much it will hurt her if someone does make fun of her. I am hopefully though...I am hoping and praying this doctor will look closely at all that is going on with her. That he will be able to help....I know what is going on with her is complicated and may include more than just one diagnosis...but maybe just maybe we have some hope again....

What a glorious day!!!

Last night as I put the twins to bed, I thought for once things seemed to be normal. I laid them down, read them Green Eggs and Ham, and tucked them into bed. I was sadly reminded that our life isn't normal. As I walked by the bathroom, Sean was hooking Kadian up to go potty. I am often amazed by how much medical science is helping our family function normally. Her belly is starting to not look as bloated as it was. I guess we got used to how it looked. Sean commented last night how he could see how much it has gone down. It is still very hard in spots but for once in a very long time it almost looks normal. The best part is she is on less medicine. I HATED pumping so much medicine into her little body. We are praying this will help with her bladder dysfunction. Hopefully this month the doctor will be able to do her DNA testing for all 54 genes for FAODs.
After we got the girls in bed, I helped Sean put three heating pads all over him. The medicine he is on makes his whole body hurt even worse than what it does just from MS. It breaks my heart watching him struggle with the pain. The shots have many side effects. You have to wonder if it is worth it. The doctors say that the side effects get better over time. I sure hope so. He has started the process with the VA so he has several appointments. They look at all the problems he has had over his military career. They examine him to see if they are still there. Then they rate his disability according to it. He did another sleep study last week. This showed several problems so he goes back this week to sleep on a CPAP machine. Soon he will start the process with the Navy to determine if they will allow him to finish out his 20 years or if they will medically retire him. Please keep us in your prayers. We are still hoping they will say he can stay in the Navy for the last 2 years.

The silver lining:)

"Friendship is unnecessary, like philosophy, like art... It has no survival value; rather is one of those things that give value to survival." - C. S. Lewis

Friendships seem so hard for special needs parents. A lot of people I know complain that people seem to disappear once they have a child with special needs. We have had that to a certain degree but I have had a lot of great people support us through all of this. It makes my heart happy knowing that people care. Sometimes it feels like this situation has consumed us. I worry that all people see us as are "the sick family". They don't see the normal everyday stuff we go through. My hope is that each person will see that we are more than just our illnesses...that people will see our value.
We have been so blessed in so many ways and I hope people see that too. I have had several people say, "I don't know how you do this." or "How do you keep it all together?". I think we do what every other special needs family does. We keep on going for each other. Life is hard for everyone. Our struggles may be different from others but everyone has struggles. I amazed by the strength of so many others. It is truly inspiring. I have learned from so many others: that you have the illness, it doesn't have you.
We never expect life to be what it is sometimes. I never thought I would watch my husband try to teach my daughter to be brave for her port flush by him trying with all his might not to pass out from injecting medicine into himself. I never thought I would have to rush home to help hold my daughter down so she could have her port flush...I didn't even know what a port was till she came along. I never thought my 8 year old would even know the words spinal lesion...never-mind tell someone she was having a MRI to look for them. But we have learned so much from all of this. My kids are compassionate little people because they have been through so much. Their strength and compassion inspires me!!

Never a dull moment!!!

I thought it was time for an update. A lot has happened lately and I have been just trying to process it all.
Sean~He had a MRI of his lower spine and brain. They didn't find any lesions on his lower spine nor his brain. This is good news!! The doctor thought that the lesions in his neck long lesions that extended down his spine(this would have been another indication of Devics disease vs. MS). This is not the case. He went back to see Dr.Cantor(the civilian neurologist) last week. He finally dx'd Sean with Relapsing and Remitting MS. Well technically he has MS with an asterisk. Who gets a diagnose with an asterisk...my family does!!! Meaning they believe it is MS, but the fact that he only has spinal lesions and we have a crazy family history they won't commit to saying that is definitely MS. They will always question his diagnosis b/c of our girls and his weird symptoms. They drew a bunch of blood and started him on some medicines to treat MS. The doctor is hoping that we can get him back to only having very minimal numbness. He is hoping that between the steroids and interferons the numbness will get under control. The interferon medicine will hopefully prevent another episode. We still don't know what will happen with the Navy. He most likely will have to start his med board process in July. This part is the most nerve racking b/c our future is in the Navy's hands. That is such a scary thing for me but I know all things will work out. Please pray for us as this is such a stressful process.

Kadian~Kadian had her MRI about 2 weeks ago now. The sedation went great. The anesthesia doctor said she believes she had trouble with a medicine called Precedex. They put in her records she is never to have this again. Her spine MRI was normal. The good news~ she has no spinal lesions and the tumor on her spine isn't bigger.

We went back to the neurosurgeon and he said once again there was nothing he could do. He said he believes something is wrong and not to give up looking to find what it is. He said there is nothing surgically they could do. He said her muscle on her legs looks good. He doesn't see any "wasting" away so this is good news.

The neurologist wants her to have a brain MRI to see if it is something in her brain causing all her symptoms. Hopefully they will call by Tuesday to set up the appt. She goes on the 18th to see the surgeons for her Cecostomy tube. She has had a bladder infection since January. I feel so bad for her because I know it is painful and embarrassing. She actually got a bacteria that is killed by Septra while on Septra. Not a good sign at all!!!

Our pediatricians office called last week when we were in FL to figure out what they needed to do to send her to the mitochondrial specialist in Atlanta. I am praying we can get that all figured out this week. There has to be something that explains all of this. She isn't getting any better despite every thing we are doing.

MRIs and such...

I am hoping this week we may have some answers about Kadian. Tomorrow she goes for her anesthesia consult for her MRI. Wednesday they will put her asleep to do the MRI. They're checking to see if she also has spinal lesions and to see if the tumor on her spine has gotten any bigger. Friday we found out she still has an UTI. This means she has had an UTI for 6 weeks now. The sad part is she is getting UTI's while already having another. How do we know its not the same infection b/c it has been different bacteria. The 2nd one was supposed to be killed by the same medicine she was already on.:( Her pediatrician recognized the fact that the Urologist needed to get involved to figure this out. Hopefully tomorrow they can figure out what to do. Hopefully they will also talk to the GI people to get her referral to the surgeons for her cecostomy tube. I am hoping they get this stuff straightened out tomorrow. I still haven't heard back about her having the muscle biopsy. I am planning on calling them this week and Tricare to figure out what needs to be done so we can figure out if she has some type of Mitochondrial disease.
Sean is still in his flair up. They gave him some medicine that is supposed to cause his body to make steroids. Not sure it worked though. He is still in a lot of pain, numb, and tired. I teasingly put my cold soda against his leg and he didn't feel it:( This breaks my heart because he hasn't had numbness in his legs till this time. They did another MRI on him last week so when he goes back to Dr.Cantor we will know if he has lesions down the rest of his spine. We know for sure he doesn't have AMN so it's down to Devics Disease and MS.
Please continue to pray for our family. This has been a hard time for us. I just keep praying for God's guidance and strength.

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.