My thoughts on the Justina Pelletier Case

If  you are part of the Mitochondrial disease community you have heard of this case, if you are not there are many articles on the Internet about it. Here is a recent article about the case: http://www.bostonglobe.com/metro/2013/12/15/justina/vnwzbbNdiodSD7WDTh6xZI/story.html.

     First I will say I personally do not know this family. My opinions are based sole of what I have read. My intent isn't to argue the details of the case but to kind of give a different perspective. Much of the controversy is based around Boston Children's Hospital, and the choice that they made to get DCF involved in what they believed to be a misdiagnosis of Mitochondrial Disease. I have read many comments on the official Facebook page for BCH. At first I was angered at the comments defending this hospital. How could people not see that this hospital was destroying a family(and other families going through the same thing)? How could they be okay with that? But I thought about the fact that while this family is going through this, another family is getting a second chance with their baby or child after a life saving surgery. My point is this: not everyone's experience is the same as yours so try to take that into consideration.
    My oldest daughter has had medical issues since she was around 4 years old. At 6 years old she had a MRI of her spine. She saw a neurosurgeon(that I am sure has saved many children's lives or at least made it possible for them to live a more normal life) in Jacksonville. Twice he told my family there was nothing he could...that my daughter's medical problems were not caused by what we were seeing him for. We trusted his opinion at first. We tried to seek out a second opinion but with our insurance that limited what we could do. The rest of the physicians in his practice(who were the only other neurosurgeons in our area that our insurance covered) refused to even look at my child's case. When my daughters case was brought up by a doctor he couldn't recall who she was and told them she had a completely different diagnosis than what she actually had.
    Fast forward to us moving to Iowa. The GI doctor and Urologist wanted to make sure the neurosurgeon here looked at Kadian's case because they believed that her issues were the result of the problem with her spine. So they referred us to one of the top neurosurgeons in the country. Lucky for us he was at the same hospital as her other specialists. 
     I left that appointment in tears because he pointed out so many things that were missed by the doctor in Jacksonville(and some of the others that saw her also). He wanted to review her past MRI's and for her to see some other specialists before he made a decision on what he felt needed to be done. After looking at her MRI he said it is clear that she has Tethered Spinal Cord syndrome. The sooner that your child has a spinal cord release the better their prognosis is with TCS. She will must likely always have neurological damage because the original doctor did not do the surgery(although our neurosurgeon now will not confirm this but if you read Pubmed and many medical sites this is an accurate statement)when the issue was first found. 
  After her surgery each doctor that took care of my daughter asked the same question..."why didn't she have this surgery sooner?' I was angry. Angry that I trusted so many of the doctors that were in that area. Angry that our insurance company was not helpful in finding out what was wrong with her or helping to find someone to help her. Angry that she may have went through unnecessary tests...angry that she may have had a chance at a normal lifestyle.
   Others may have had a positive experience with the doctor in Jacksonville but we did not. It's not to say that their experience isn't accurate or that he did not save their child but he failed mine. So while BCH saved your child's life or helped him/her have a second chance, it does not negate the fact that they have forever changed the lives of this family and several other families that have a mitochondrial disease diagnosis.
   My hope is that Justina will be returned to her family. So many families of kids with Mitochondrial disease are falsely accused of MHBP because so little is actually known about Mitochondrial Disease. My hope is the judge will do research about this disease and realize that it is not always a cut and dry thing. Her symptoms and the way she presents is very much like my daughter's(we are still unsure if she has Mitochondrial disease or not) so I know without a doubt any of us in this community could be in the same boat as her parents.
      

De ja move

A lot has happened since the last time I wrote a blog post. Last April Sean was medically retired from the Navy. Our life rapidly changed..which seems to be a pattern for us. When things seem to going along smoothly somewhat smoothly, our life usually takes a different turn.

Sean began the search for a new job which landed us in Paducah,Ky. We bought a house and began to settle (somewhat) into a routine there. About a month into us living there, the plant he worked at started talking about laying people off. So after just 5 months of living there he was in search of a new job. It felt like we had just did the whole moving thing, finding a house to live in , and establishing our life in a new place. We ended up choosing Iowa. Not in a million years had I ever thought I would end up in KY...so Iowa was way off the radar. Sometimes we have to expand our horizons...or so I have been told.

Life is very different here. For starters, the ice and snow is completely different from any weather in southeast GA. Although it's very tiring for Sean, he really enjoys his job.  The girls are settling into a new school with new friends. We have begun to set up their medical care here. The biggest downside is how far away the speciality doctors are from where we live. Wish that it was closer but it is what it is.  We found out that the third part of Kadian's muscle biopsy was not sent off . Hopefully this coming week it will be. They are looking to see if she has a mitochondrial complex involved or carries another gene for a different fatty acid disorder other than LCHAD. The question is if possibly the two genes are causing all her issues. We also found out that Lauren has outgrown her port so that will have to be replaced. She saw an opthamologist here the other day. Her Retina Pigmentosa has progressed because she is having trouble seeing in dim light. In March, they are doing a test to see how well the retinas function. Life is stressful as always but each and every day I spend with my girls is a blessing. 

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.