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.

The Start of Something Great

Since the first mention of LCHAD in July... July 2nd to be exact. I have been lost, completely lost. I go from one extreme to the next. So many things I think I need to do, things I want to do and then what I really need to do.

Till now... finally, labor day weekend I have decided this is where I want to be. In blog land, telling the world about my amazing children! Giving you a sneak peek into what its like raising kids that have a rare genetic disorder no one knows about.

I hope you all enjoy our corner of the internet, come back often to check on us and most importantly learn what LCHAD is!

*I'll work on getting a better family photo, I promise!*

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.

Hunter's LCHAD diagnosis

My pregnancy with Hunter was seemingly normal, just a few minor complications. At 30 weeks I was admitted to labor and delivery for having contractions that stopped with a lot of IV fluids, I continued to have contractions on and off after that but nothing too concerning. At 34 weeks the contractions were getting stronger so they gave me medicine to stop them. At 38 weeks I went into labor and Hunter was born weighing 9lbs. Our hospital stay was short and Hunter was sent home what we thought was a healthy baby boy.

Unbeknownst to us Hunters newborn screening acylcarntine profile came back slightly elevated but “likely nonspecific. Please send repeat screen” His repeat NBS came back normal. We were never told this until after our second hospital stay, I’m not sure what I would have done if I did know this then but it is important for parents to know NBS is important and don’t assume everything is fine if they don’t say anything about them.

When Hunter was 6 months old he came down with a cold one week after getting his shots from the pediatrician, he wasn’t acting like himself and had no interest in eating. We called his pediatrician and he advised us to just continue to try to get some fluids in him and let the cold run its course. The second day of this “cold” Hunter could barely keep his eyes open and couldn’t lift his head up for more than a second. Enough of waiting it out we rushed Hunter to the ER, after what felt like the longest wait of my life we were taken back to a bed. As soon as I laid him down the nurses eyes lit up, she realized something was wrong. Numerous tests were run and the only thing that came back abnormal was his liver enzymes were elevated. The ER we were at consulted with the University of Maryland and they decided he needed to be transferred there. University of Maryland ran more tests and all they could tell us was that his CK levels were elevated. They came back with the diagnosis (misdiagnosis) of Viral Myositis. I was relieved at the time, this was a one-time freak thing that would never happen again… or so they said.



Hunter, 12 months old & his sister, Alexis

Then Hunter turned 1, went to the pediatrician- everything looked great! He was a happy 12 month old weighing in the 75% and 95% for height, Hunter got his recommended shots and we were on our way. Exactly one week later we woke him up and he went back to sleep, put him in his car seat and he went back to sleep, when I opened the door to get him out of the car he looked at me and I knew I had seen that look before. It was happening again, they told me it was a one-time thing and it was happening again! We called the pediatrician ASAP and he had us bring him in, within a couple minutes of the pediatrician seeing him he sent us to the ER. We got a room pretty quick, it was the same nurse as last time (she remembered us) and the work up started. His blood sugar was 39 (normal 80-100) and again his liver enzymes and CK were elevated. We were transferred back to the University of Maryland for more tests; they assured me they would find out why this was happening again. Multiple tests were ran (EEG, MRI, liver sonogram etc.) and aside from his MRI showing high lactate everything was normal. Lucky for us this time they consulted with a geneticist. The tests she chose to run were going to get us our answer. We spent 5 days in the hospital and Hunter was back to himself but the tests weren’t back yet, we were discharged on a Friday afternoon with the suspected diagnosis of “Fatty Acid Oxidation Disorder” which if your reading this you probably know that could still mean a million different things, it gave us enough answers to drive us crazy but not enough to be able to do anything. The following Wednesday we got the call from the geneticist, Hunter had LCHAD.

The next day we had our first appointment with the genetics team at University of Maryland and they were great, they explained everything and spent hours answering all my questions. Since Hunter’s diagnosis he’s been given a strict diet he needs to follow, MCT oil we need to work into his diet every day and instructions to add cornstarch to his night time bottle so he can sleep through the night. With lots of doctors following him closely Hunter is doing amazing, I am excited to watch him grow up and see what he decides to conquer in his future.