Sunday, December 15, 2013

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:

     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.

Saturday, January 5, 2013

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 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.