Mitochondrial Disease Awareness Week 2014

Hey everyone! Its Mitochondrial Disease Awareness Week! If you could take a minute and share these pictures on your social media outlets I would greatly appreciate it. 

Here is a link to our Facebook Page Hunter's Heroes- Lchadd Awareness 

What is Mitochondrial Disease? 

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fain, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Continue Reading on UMDF.org

Hunter's journey so far... 2 separate weeks spent in the hospital, 3 trips to the ER, 2 ambulance rides, 1 misdiagnosis, 1 CT scan, 1 MRI, 1 EEG, 1 liver sonogram, 50 + missed IV/ blood draw attempts and  8 doctors appointments in the last 2 months. 

Alexis' journey so far... No hospital stays, no ER visits, no ambulance rides, 2 blood draws and 2 doctor appointments. 

What is LCHAD? LCHAD is a rare disorder that prevents the body from converting certain fats into energy. This can be life threatening especially during periods of fasting. 

Special Health Needs Blogs

As a mom to kids with a rare disease, there are days you set out to find others going through the same thing. I have a small group of moms from all walks of life that have LCHAD kids but for some reason I still find myself searching online for happy blogs about kids with rare diseases and let me tell you the sad blogs defiantly outweigh the happy ones. Searching can put you in a dark place but for some reason I still find myself looking. 

I read on one blog sick kids are like finding a new car. You never noticed that car until it was specifically pointed out to you and then you see it everywhere. Every where I look I find kids struggling with rare diseases, diseases I had never heard of. It is heartbreaking

I decided to compile of list of blogs that are not overly heartbreaking. Stories of kids with rare diseases but they still look at life as their glass is half full, rather than half empty and depressing all the time. 

I hope if your online searching for happy special health needs blogs you come across this post and your day is not so depressing. I hope these blogs leave you in a better mood even though I know first hand how hard some days are. 

Epilepsy warrior www.justsayhi.org

Rubinstein-Taybi Syndrome (RTS) braxtonjoseph.com

Tuberous Sclerosis Complex (TSC) www.nelsonfamily2008.blogspot.com

Oh & Special Health Needs Parents read {this} 

**I will update with more blogs as I come across them, for now I can't bring myself to search anymore 

IMPORTANT! Newborn Screening Call To Action

I write this post with some mixed feelings. Newborn Screening is important! Something parents of healthy babies have probably not even thought twice about. They give your newborn a little heal prick when you are in the hospital, send their test results away and most times the parents will never hear anything else about them. We didnt anyways until AFTER Hunter's diagnosis.  

LCHAD is one of the 31 diseases they test for with NBS. Hunter's test results came back "slightly elevated. Likely non specific. Repeat test." His second test came back normal, which according to our genetics doctor is normal for "best case scenario" LCHAD like Hunter.  What my research has turned up about his first test we should have been referred to a specialist then. Let me run something else my research has turned up by you... Some patients die in their first episode of fasting. So just add the missed opportunity for diagnosis at birth and what could have happen the first time he was sick when we kept him home instead of going straight to the hospital.... you can figure out what could of happened. 

While Hunter isn't a positive NBS story, NBS is still a huge part of LCHAD diagnosis. March of Dimes is asking us to take 5 minutes on monday to call our Senators and tell them NBS is important to us! 

Deb the founder of FOD support gave us this information about who to call and what to say.  5 minutes of your time!! 

Just follow these two easy steps:

1. Call the U.S. Capitol Switchboard at (202) 224-3121 and ask for your Senator’s office. You can identify them by name or, if you don’t know their names, tell the operator what state you’re from.

2. When you are transferred, identify yourself and ask to leave the following message for the Senator. “My name is Jane Smith, and I’m from (your town/city and state). I would like to leave the following message for the Senator: As a constituent, I am asking the Senator to support swift final passage of H.R. 1281, the Newborn Screening Saves Lives Reauthorization Act. This bi-partisan bill helps save babies’ lives by supporting screening for genetic conditions that are deadly or disabling if not identified and treated at birth.

This legislation is incredibly important to our nation’s infants and families, so I urge the Senator to make this a legislative priority, and support final passage of H.R. 1281 as soon as possible. Thank you for your time.”

Here you can find the official Call for Action from the March of Dimes 

Heartbreaking conversation with Alexis about LCHAD

I should have known Alexis was going to ask questions, she is at that "why, why, why?" stage but for some reason I was still caught off guard when Alexis asked me "Why do I have LCHAD?"  The first time she asked me it was so unexpected I just replied with the generic answer "you were born with it" she didn't ask anymore questions so I was off the hook.  Later that night I was talking to Chris about it and realized Alexis deserved more of an answer.  She was smart... she knows what is going on or at least she knows something is going on.  I wasnt really sure what I was going to say, she's special? God knew she could handle it? What can you say? "Well kiddo me and your dad both carry the gene so your just that lucky 25%." Things like this don't come in your mom handbook when you give birth, nor is it something you chat about with your mom friends. 

Even  though I had no idea what I was going to say I waited for the perfect time to bring up LCHAD with Alexis and ask her what questions she had (other than the obvious "Why?") I needed her to be calm so she would actually listen.

At dinner last night, Hunter was in his high chair and Alexis & I were sitting at the dinner table. I took the plunge, I asked her if she wanted to talk about LCHAD.  Of course she said yes, and I said you do know your special and that's why you have LCHAD, right? Then in so many words she asked why she has it now since Hunter just found out he had it.  Holy cow, how does she know this! Either way I explained to her that Hunter got sick and they found out he had LCHAD so they just wanted to double-check her blood work. 

*insert 3-year-old reminiscing about her last blood draw*

Heartbreaking conversation w/ Alexis about LCHAD

I told her, her blood work came back that she was awesome and had LCHAD. She was pretty happy her blood work came back awesome but still not convinced LCHAD was here to stay. She kept asking when it would go away and when it would come back.  Without knowing for sure that she has it (see earlier post, im still in denial) I really can't do much more convincing. So I just skipped ahead and told her that we will know at her next doctors appointment. The next appointment where they are going to check her eyes and then draw her blood. 

"What!? Noooooo! I don't want my eyes checked" She then showed me where she got stuck the last time and covered it up.  Poor kid. We talked about how everyone gets there eyes checked and she seemed okay with it & went on to tell me who she wanted to come to her doctor's appointment "Mom, Dad, Jake (our dog), Tanker (the cat).... no animals? What about a chicken?"  Did you notice she didn't name Hunter? She told me she doesn't want him there, sorry kid he's going to the eye doctor too. Unfortunately, Dad starts his new job that day too so he wont be there. Alexis told me to text her Aunt Michele and ask if she would come. So hopefully it will be Alexis, Hunter, Me and Aunt Chele on this adventure to get Alexis answers and to make sure there eyes are okay. 

Here is my not so professional advice about how to explain things to a preschooler

1. You can't avoid the topic forever, your better off just sitting down with them and explaining it

2. Make sure you catch them when they are calm, not bouncing off the walls. You want them to actually hear what you are saying. 

3. Don't lie! 

4. Somehow make it so they understand. If they have never heard you talk about it you might have to keep it simpler then if they have heard you talk to other adults about the disease. 

5. Give them something to be excited about. ex: Alexis' blood work comes back "awesome." Now she's excited for her blood work to come back awesome. 

Kids? Why does her blog say LCHAD kids?!

I havent been very vocal about this because I don't believe it myself yet, I'm pretty much in denial but a few weeks ago they called me on a thursday and said Alexis' blood work came back a little off and all that meant to them was... they didn't know. They shipped her test results to a biochemist at the University of MD and then called me friday.

The call friday left me in shock, I thought for sure they would tell me she was just a carrier. She's never been sick! WRONG they said Alexis' blood work looks to much like Hunter's and they are pretty sure she has it. To the point they made her an appointment with the geneticist, heart doctor and eye doctor next month so she can go at the same time as Hunter. That "pretty sure" is the only thing im holding on to until she gets more blood work drawn and they actually look at her DNA and give me a definite yes or no.

September 8th is the big day for her. We will be going down to University of MD to see the eye doctor and after that we will pit stop at sub-specialty to get her blood work done. Since they found both of Hunter's mutated genes it shouldnt take long (or so they say) to get the results back.

In the mean time Alexis started pre-school!! With the precautions of "likely" LCHAD, since we don't know (& I'm in denial) I havent put too much thought into the fact that im sending my special health needs child to preschool, all I did was talk to her teacher and school nurse about LCHAD and give them a LCHAD FAQ and her ER letter. On her health form she had to get filled out, the pediatrician said she might need a snack during the day and if she asks for one she should be given one. So I did send a box of those applesauce squeeze pouches and left them with the teacher as a just in case.

August is National Immunization Awareness Month

We all need shots (also called vaccinations or immunizations) to help protect us from serious diseases. To help keep our community safe, Living with LCHAD is proudly participating in National Immunization Awareness Month.

Shots can prevent serious diseases like the flu, measles, and tuberculosis (TB). It’s important to know which shots you need and when to get them.

Everyone age 6 months and older needs to get a flu shot every year. Other shots work best when they are given at certain ages.

- If you have a child age 6 or younger, find out which shots your child needs
- Find out which shots adults and teenagers need
- Use this chart for adults to see if you are up to date on your shots
- If you are pregnant, check out this recommended immunization schedule

Talk to your doctor or nurse to make sure that everyone in your family gets the shots they need.