ONE YEAR Hospital Admission Free!

One year hospital admission free!!! & we couldn't be more thrilled.  We couldn't have made it here without the thoughtfulness of our friends not bringing germs around and/or always giving me a heads up when they were sick or around someone that is sick. So with that THANK YOU!! 

Alexis is still completely hospital admission free! 4.5 years and counting. 

Alexis Finishes Pre-School!!

Alexis had a great year at pre-school! We went to Rising Sun Elementary School and the school was more then accommodating when it came to LCHAD. 

 Here is her Pre-school teacher Mrs. S! 

& side by side picture for comparison from her first day of pre-school to her last day! 

Countdown to Rare Disease Day 2015!!

 

 

Rare Disease Day is always the last day in February each year & we are excited to participate and help raise awareness!  Check out Rarediseaseday.org for more information about it!

 

I want to do something special for this day, does anyone have any ideas? 

 

 

 



Our Facebook page!

Just wanted to let everyone know we changed our facebook page name from "Hunter's Heroes- Lchadd Awareness" to "My Awesome LCHAD Kids." We changed it to include Alexis in this LCHAD journey and now the name matches up with my blog. Here is the facebook link, go "like" our page!

Hope everyone is having a great thursday, kids are doing great so far this winter. Hunter started his new medicine a couple weeks ago and in the next couple of months Hunter has a neurolgy appointment and both kids have genetics and eye doctors appointments. Thank you for all of your continued support!

Merry Christmas!

I know it's a little late but I wanted to say Merry Christmas! Hope everyone had an amazing Christmas. I wanted to share some of our Christmas photos...

 I'm that mom who likes to match her kids.... and I have no regrets :)

 

Paw Patrol.... 'nuff said :)

 

Our ornament to remember the year our lives changed forever

Alexis' ornaments from Preschool

Note to self: Next Christmas pull out actual camera and do not rely on my phone.

 

Merry Christmas from My Awesome LCHAD Kids!!!

 

We were able to get about half of the Christmas cards out this year that we wanted to, so for those that didn't get a Christmas card this is what we sent.  A generic card with this letter in it...

 

Abrams Family 2014: Year in Review

What can I say about 2014, it was crazy, unexpected and I’m glad it’s almost over. I tried picking out pictures for our Christmas card but none of them seem to tell the story completely, so I decided to go another route and write up a summary of our year.

I will start with Hunter since he decided he wanted to start January out with a bang (aka his first hospital stay.) He spent 4 days at the University of Maryland with the diagnosis of Viral Myositis, boy was that wrong. Life continued uneventful till June. We celebrated Hunter’s first birthday with a nice shindig at our house and then a week or two later Hunter ended up in the hospital. After spending another week in the hospital we left with the diagnosis of Fatty Acid Oxidation disorder, and a few days later got the official diagnosis of LCHAD.  Just a refresher, LCHAD (Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency) means they can’t digest long chain fats, long chain fats are in EVERYTHING!  If they eat more long chain fats then their body can handle it will deposit in any of their major organs causing lifelong issues.  Another part of this disease is they can’t turn fat into energy, so they have to eat in order to have energy for everyday life. The more active they are the more energy they need, the more they need to eat. Or in case of sickness when your body needs more energy to fight off infections, fevers etc. However, who wants to eat a ton when they are sick? Usually the opposite happens. We don’t want to eat at all when we are sick. That’s when our LCHAD’ers will end up in the hospital. Along with spouts of vomiting, diarrhea etc.  Since his diagnosis, Hunter has had quite a few doctors’ appointments. Almost all we have left with good news, with exception of the neurologist (which is a follow up from his hospital stay) Hunter was diagnosed with a speech delay, so he has been in speech therapy four times a month since October.  Lastly, he was accepted into a trial for the medicine he gets every month. He is being monitored closely by Children’s national in Washington DC and will be starting his new medication in January.

Alexis has had an exciting year as well. She was accepted into Pre-school at Rising Sun elementary school which started in August. She loves school and is learning so much!  In early September we found out Alexis has LCHAD too. She is handling it like a champ & I’m proud to say that all of her doctor’s appointments with our specialists we have left with good results as well! Just a few weeks ago Alexis turned 4 and we celebrated with a birthday party at That Bouncy Place.

                Chris finished paramedic class and shortly after got a new job with Cecil County Department of Emergency Services.  He is still working part time at Harford County dispatch and the Harford County EMS Foundation.  With what free time he has he is trying to spend more time at the firehouse and get back into volunteering.

                Not much has changed for me, still working for Harford County dispatch full time.  I am still in love with my Scentsy business! I even went on an all expenses paid trip to St. Louis this year for Scentsy’s annual Family Reunion. I started a blog that I have been putting my thoughts in and our adventures with LCHAD. I hope that it helps spread awareness of LCHAD and when someone similar to myself finds out their child has LCHAD they come across it and find comfort in what life can still be.

I am glad 2014 is coming to a close and I am looking forward to making new memories in 2015. Hope you enjoyed our Christmas Card/Story this year!

                                                                                     Yours Truly,

Chris, Christy, Alexis & Hunter Abrams

"Let's Go Ask Mommy"

To the people who think its okay to feed random kids... it's not.

You're at a birthday party and a random child comes up to you and asks you if they can have a cupcake what would your answer be? Oh, yeah sure.. here ya go or lets ask your mommy? I hope its let's go ask mommy, daddy or whatever guardian is in charge that day and if it's not hopefully this post will change your mind.
 

To the mom the other day that told me it was okay for my daughter to have another cupcake even after I said no... Shame on you.  Then the look you gave me when I said she can't digest fat, seriously your ignorance is disrespectful. 

My kids are 1 in 100,00 what are the odds they will show up at your next party? slim... very, very slim. But what about the other kids on special diets?

What other kids?

The girl I know that's allergic to peanuts and not just actual peanuts, anything fried in any nut oil or made in the same factory with peanuts...

Or every other food allergy out there...

The boy I know that gets sick when he eats too much sugar...

Those who can't have gluten....

Or diabetics....

What about the masses of kids who stick to a dye-free diet.

All of these special diets are of kids I have met.  They are all kids that look normal and from the outside you would never know they can't have certain foods. So, do me and the next mom a favor and when a kid asks you for something respond with "let's go ask mommy"

 

 

Happy Birthday Alexis!

Dear Alexis,

What a year it has been! You are an amazing kid, an amazing big sister and I am lucky to be your mom. Here's a recap of your third year.

November 2013- We celebrated your 3rd birthday with a party at kids first swim with all of your friends, you loved it! Well almost all of it until we sung Happy Birthday and then you screamed, it was cute!

December 2013-  You still don't like Santa, you wont go anywhere near him when we try to visit but you love what he brings you on Christmas! Santa also sent one of his elves to our house to make sure you are listening to your parents and being a good girl, you named him Red.

January 2014- Was the first time your brother was in the hospital, you were so brave! You came to visit him, told him you hoped he felt better and brought him toys to play with.  

April 2014- We went to visit the Easter bunny and like Santa you don't want anything to do with the bunny but after some bribery and the third time standing in line we finally got your picture taken with him. This was as close as you would get.

May 2014- You were the best flower girl in Mandy's wedding!

June 2014- Your brother turned one and then he ended up back in the hospital and you were so worried about him and whether he was going to be okay or not. You came to visit and with some coaxing you got close enough to him for a picture (you were scared of all his wires attached and his hospital gown)

August 2014- You started pre school! You love it, most of the summer you weren't sure you wanted to go but after your first day you were hooked, you get so excited to go everyday. You can't ride the bus this year but next year when you go to Pre-K at Conowingo elementary school you will be able to.

September 2014- We got some news we were not expecting, I thought for sure we were only testing you to see if you had LCHAD just to be safe and I thought for sure it would come back you didn't have it and then we got the phone call, saying you had the same mutated genes as Hunter and you officially had LCHAD.  My heart was broken for you but you didn't let me stay sad to long, you took it with stride. Although, every day we sit in the car rider loop waiting for your teacher to come out so you can go to school you always say "sooooo I have LCHAD everyday?" which breaks my heart but its good you know about it. Every time you ask for something to eat, you always ask me if it has a lot of fat and if you can have it.  I know this disease sucks and I am sorry, we had no idea.  I know however that you and your brother have each other and you will live amazing lives and be able to do anything you want. I promise to do everything in my power to keep you happy and healthy.

October 2014- Your Aunt Chele got married! You were her flower girl and we both agree Aunt Chele is a pretty awesome godmother :)  

& here we are, you turn 4 today! I can't wait to see what the year will bring.  I love you with all my heart.

Celebrating Halloween on a Low-Fat Diet

Interesting topic, the biggest holiday for candy and our kids are on low-fat diets. Do you take them trick or treating? What candy can they actually have? Should we celebrate at all? All of these questions are still in my mind since this is our first Halloween with LCHAD kids. 



Halloween 2014- Rainbow Dash & Scout the Dragon

I asked other LCHAD moms how they handle Halloween because clearly I am not an expert and most of them said they still celebrate it and go trick or treating just at the end of the night they sort candy. Some throw away ordonate what their kids can't have. Some can have more than others but always in moderation.  Some moms switch out their candy with stuff they can have. 


It's all about the child, how well they understand the disease how you need to handle it. I think I will probably spare the heart ache of getting rid of Alexis' hard earned candy this year and take the fattening stuff out when she's not around. We will see, the conversation is bound to come up and I know she understands too much fat is bad for her and Hunter, I just want to spare her the heart ache for now. 

Halloween 2013- Little Red Riding Hood & The Big Bad Wolfe! 

Minnie Mouse- Halloween 2012

Snow White- Halloween 2011 

Specialist Recap

Since we have so much going on and we are sort of at a breaking point in the chaos, I wanted to update with all the specialist we have seen and when we see them again.

Genetics: Dr. Green- Both kids saw her last in September and will see her again in 6 months

Cardiologist: Dr. Baker-Smith- Both kids saw her in September and go back in 12 months

Eye Doctor: not sure her name- Both kids saw her in September and go back in 6 months

Neurologist: Dr. Rao- Hunter saw him in August, then October and goes back in 3 months. Alexis doesn't have to see him.

Pediatrician: Dr. Yim- Both kids go in December, Alexis for her 4 year check up and Hunter's 18 month check up.

Hunter is seen by the Speech Therapist every Monday for the next 6 months and then they will re-evaluate to see how he doing.

Let's hope they stay healthy this winter so we can go an entire month without a doctors appointment. woo hoo!

Blog Name Becomes Official

We got the official news yesterday that Alexis has LCHAD too. They found the same two mutated genes that Hunter has. I have a lot to say on the topic I just need some time to put them all together in an organized fashion.

Thanks to those who take the time to read my blog and to care about my kids.

Genetics/Cardiology Appointment

Let me start of by saying this week sucked.... a lot. We saw Genetics, cardiology and the pediatrician.   

I thought for sure Tuesday was going to be good. My husband managed to get off work so he could come to the appointment with us, we were suppose to see genetics for Hunter's 2 month followup, genetics for Alexis' initial appointment and then cardiology for both. The day started out good (meaning we got their on time) but quickly went down hill. They hadn't updated my insurance information in their system so when they updated it they gave me the bad news that they couldn't do there EKG/Echoes in that office because my insurance wouldn't cover it. According to them my insurance wouldn't cover it because that office was in a hospital, I asked how much it would cost without insurance... the down payment (for 1 kid) was $600+ and I would be mailed a bill for the rest. Yikes! That was out of the question. So, they decided to still have us see the doctors today but reschedule our EKG/Echoes. 

We met with the cardiologist first, she explained what she was looking for, what the game plan was and then that she had an open appointment for us on Friday to come in at their Hanover office. While she was talking to us with 2 student doctors over her shoulder, 2 techs came in and started to get vitals. They didn't come in and explain what they were going to, we just blinked and Alexis was screaming with a blood pressure cuff around her arm and Hunter was on the exam table being looked at. ....traumatic and chaotic.... Once they got what they needed the techs left and it was just the 7 of us in the room (cardiologist, 2 student doctors, me, Chris, Alexis & Hunter) Luckily, Alexis liked the student doctors so she started talking to them and they kept both kids occupied while we finished up our conversation with the cardiologist. In short, the cardiologist is looking at the size of their heart and how they are functioning. 

Then it was the genetic counselors turn, the student doctors stayed (which worked out to our benefit because they were still entertaining the kids) She started from the beginning basically the same thing I did at Hunter's appointment family history etc. We were almost done that when the geneticist, Dr. Greene came in.  Dr. Greene basically said Alexis has LCHAD even though her DNA isn't back, we talked about getting her started on MCT oil they want her on the same dose as Hunter. (4mL 4x/day) They wanted us to start MCT and then get her blood drawn on Friday to see how her acyclcarntine profile looks after a few days of MCT, and work with our nutritionist to figure out where we are going to start her diet at. Nothing really happened with Hunter just asked how he was doing and if I had any concerns. Then she asked me what questions I had. First, I asked if she had heard anything about Hunter's NBS. If you don't remember his first NBS came back slightly elevated non specific but nothing was ever said or done about it. She said that his numbers were so low that no one would have called him back in for more testing. Not even in Region 4 where they apparently call back the lowest of numbers. She did say Region 4 will probably start calling everyone back for any type of elevation now though because of Hunter. Next, I asked what the chances of Chris or I actually having LCHAD and if it was worth testing for. She said our chances are low but she agreed it wouldn't hurt to send us for testing. The genetics counselor looked up statistics for me and said about 1 in 138 people are LCHAD carriers, less than 1% of the population. I don't know about you but 1 in 138 still seems like a lot to me, I guess the odds are slim that the 1% will find each other but look at us. Lastly, I asked about the dreaded immunizations coming up. I asked if there was anything she wanted us to do different since the past two immunizations (6 months & 12 months) landed us in the hospital. Dr. Greene still thinks it's just a coincidence, I respectfully disagree. Fingers crossed we don't end up back in the hospital. 

Last up on the agenda was to talk to the nutritionist. We went over how Hunter's diet was going with the MCT oil and cornstarch at night. We talked a bit about Alexis' current eating habits and she asked me to keep a journal and then email it to her so she could come up with a diet for her. The nutritionist understood my concerns with vaccines and told me she would talk to Dr. Greene about it a little more to see what we could do to help Hunter this time. 

We left University of MD, 3.5 hours later with a stack of blood work that needed to be drawn on Friday at our EKG/echo appointment and were told we don't need to come back to the geneticist for 6 months! 

stack of paperwork...

Thursday we went to the pediatrician click here to read about it

*You know its crazy when I didnt have a chance to take any pictures... oh, well! 

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. 

Eye Doctor Recap

We survived the eye doctor! I was so nervous about it (probably because I really had no idea what to expect) and I was supposed to go by myself with both kids having to get their eyes dilated. Luckily, the day before I asked my friend Allison if she had plans and surprisingly she didn't so she agreed to go!

For those wondering why Chris didn't go with me it's because he started a new job as a paramedic. (yay!) He was gracious enough to help me get packed up for the day before he had to leave for work though which made my day start of on the right foot. For doctors appointments I pack up my Scentsy book bag with diaper bag contents, food, my stuff (wallet etc.) and Hunter's LCHAD binder so I can carry all of it and still have my hands free. We also had to get Alexis' stuff for school ready and in the car if we made it out in time for preschool and didn't have time to stop home first.   

We left 2 hours before the start of our appointment and after a quick pit stop to pick up Allison we still managedto be 10 minutes late. (monday morning traffic... ugh!) The genetics doctor recommended this optometrist to me, I assumed it was a pediatric optometrist... I was wrong, we found out when we walked into a waiting room of adults that it wasnt. We didn't have to wait long after I got their paperwork filled out & lucky enough for us even though one appointment was scheduled for 8 a.m. and the other at 10:45 a.m. they agreed to see both kids at the same time. 

 

 Hunter went first, surprisingly this part of the exam was pretty painless. I'm surprised he didn't freak out right away but he just stared at the doctor while she did her exam. Then they did Alexis' exam, she's a little more complicated because she didn't want to be there so we had to coax her into cooperating and then telling us the shapes the doctor put up for her to look at and identify. 

Then came the eye drops... 

Alexis went first and she was crying as soon as the doctor said "we need to..." The doctor called them magic drops and I just remember Alexis screaming "noooooo magic drops." So we did it the tough way, I held her down and then with her eyes squeezed as tight as possible the doctor put the drops on her closed eye and opened them with her fingers and let Alexis squeeze them tight again. It's apparently called the drop in method.... Alexis was not amused with the drop in method.  Next up was Hunter's turn, he also was lucky enough to get the drop in method but did we expect a 15 month old to lay still while you drop something into their eye?  We went out to the waiting room to wait for the drops to start working, Alexis wouldn't open her eyes for 5 minutes after the drops, Allison had to lead her out to the waiting room with her eyes closed.  Mind you we are still the only kiddos in the waiting at this point causing a ruckus. Take my advice when I say this do not go out numbered to an eye doctors appointment when eye drops are involved. 

We entertained the waiting room for about 20 minutes before we were called back for the last part of our exam.  The was traumatic, they were still mad from what had happened 20 minutes ago. But the doctor was quick, saw what she needed to see and that was that. & GOOD NEWS no fat deposits in their eyes and no need for glasses! What a relief to finally get good news from a doctor's appointment. We go back in 6 months for a check up (no eye drops, hallelujah!) and as long as everything checks out then we will only need to come back once a year! 

All this only took 1.5 hours! They told me to plan for 2 hours for 1 appointment. We scheduled our next appointment for some time in March and we were on our way...

On our way to Alexis' blood draw. Gotcha, you guys thought that was the end of our day. Nope, Alexis had to get her blood drawn to find out once and for all if she has LCHAD. She was a champ! We were in and out in a few minutes, the girl drawing her blood had a bit of an attitude this time but that doesnt change that she went in there, one stick, boom, done. I will deal with that attitude any day as long as she is always that good of a stick! 

And that was the conclusion of our day at the hospital! Finished before 10:15a.m. 

Tune in next week, we have a genetics appointment and a cardiologist appointment on Tuesday. 

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.