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. 

Hunter's 2nd Birthday!

Here are a few pictures from Hunter's second birthday party! We celebrated his birthday on his birthday this year, June 7!! I dont have a picture of it but my friend made a super cute truck cake for Hunter out of angel food cake with fat free cool whip as the icing so it was completely fat free! 

The use of baby jail for a group picture was not a success! 

 & who is the best big sister?! Alexis! Here is her card she made specially for Hunter! 

Thank you to our friends and family who came and celebrated with us! 

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"

 

 

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!

ER visit- October 2014

We were sent from the neurologist to the ER- read the start of the story here

I wish I could say the ER visit was painless and went smooth but that is definitely NOT the case.  It was horrible.  I thought if any hospital ER would be okay handling it, it would be University of MD but I was so wrong!

When we got downstairs to the pediatric ER, they got us right back. During registration they had bubbles, Hunter loved them. That is where the good stopped. 

I gave them his ER letter and the neurologist called ahead so they should have been prepared to handle us. They stuck Hunter at least 6 times in attempts to get his blood drawn and IV with d10, the stuff that's gonna keep him out of crisis set up. Once they finally got that done he sacked out and slept for a few hours. When they came back they told me his blood work came back normal and we could go home. We were there because he wasnt eating... he still hadn't eaten anything. I was ready to get him home anyway and put this day behind us.  Then they came in and said "Dr. Green said as long as you think he has eaten enough you can go home" ... Well I know he hasn't eaten enough. I told the nurses that! 

Nurse: we don't know what he is supposed to eat?

Me: 27 grams fat and 1200 calories

Nurse: well we don't know if he has eaten enough

Me: He's had 300 calories and about 1.5g fat... 

Seriously, how much more exact can I get?  This conversation took place at least three times. My dilemma was I didn't want to be there... but I also didn't want to make the wrong decision for Hunter and have us end up back in the hospital tomorrow in worse condition. So I cried, I cried for the nurse to get one of his doctors on the phone and let me talk to them. I cried because I didn't know what the right answer was, I needed someone to tell me what to do and no one in that ER could tell me.  So LCHAD binder in tow I went out to the nurses area and cried again asking the doctor to get someone on the phone. Either Hunter's geneticist Dr. Greene, his genetic counselor or even his nutritionist. All of which work out of the University of Maryland. 

Finally, a doctor who had a clue came in. She understood LCHAD (which I think anyone can understand LCHAD if they take the time to listen to what it is) I expressed my concerns if he is supposed to have 27 grams of fat and 1200 calories a day and he has only had 1/3 of a banana and 2 fruit cups what happens when they unhook his IV (which has sugar in it which his body is turning into energy)  and he runs out of energy? How far will what he has eaten really get him today? Will he wake up tomorrow? Is he going to make it home tonight?  The best thing about this doctor is she listened, thought about it and came up with a logical plan.  She told me to go up to the cafeteria and get him food he likes and we will see if he eats it. If he eats and I feel comfortable we can go home, if I don't feel comfortable or if he doesn't eat they will keep him on 23 hour observation. This plan made sense to me so I agreed! We unhooked his IV so if they was keeping him full he would have a chance to get hungry.  I ran upstairs and bought just about everything I thought he might eat.  & it worked! He ate an entire banana, some mac n cheese and a few bites of a chicken tender. 

With that we signed our discharge paper work and ran out of there as fast as we could! 

Neurologist Appointment- October 2014

Hunter is being followed by a neurologist because of his 2 crisis and the risk of developmental delays. We met the neurologist, Dr. Rao at our second hospital stay in June 2014. We saw him in his office for the first time 2 months ago and almost everything checked out except he is a little delayed in speech. Dr. Rao is who referred us to the infants and toddlers program. 

We had another appointment on Tuesday just as a followup to see how everything was progressing. Good news is Hunter's speech is progressing, bad news is he is still delayed. We didn't have much time to actually talk at his appointment because as soon as we got their Dr. Rao noticed he was sick and asked how he was doing, I mentioned he hadn't eaten as much as he normally would by this time and he insisted we went to the ER to get blood work done and for him to be monitored. The concern is what happens to his body when he goes into crisis and the irreversible damage, the goal is to be proactive and prevent and future crisis... hence, why we went to the ER. 

That fiasco needs it's own post.. you can read that (here) 

The neurologist told me to call him in a month or so and give him an update on speech therapy and to schedule an appointment in 3 months for another follow up.  He also told me that going through infants and toddlers isn't my only option for speech therapy so if I don't like the speech therapist or don't think they are helping enough to call him and we will schedule speech therapy through the hospital.  Did I mention I really like Dr. Rao! He gets an A+ rating in my book! 

15 Month Well Baby Visit

The well baby visit was for the most part uneventful. We just went over everything, all of our doctors appointments, speech therapy, diet etc. Hunter's still gaining weight and growing on track like he has been so aside from his speech or lack there of the pediatrician  concerned.

"Let me out of here!" - Hunter

We had to end the 90 minute appointment with shots, the dreaded shots! I talked a bit about my concerns at our genetics appointment. The nutritionist got back to me and said to immediately start alternating Aspirin and Tylenol  after he gets his shots and hopefully between that the MCT oil and cornstarch he is getting it will be enough to keep him out of crisis. Hunter received all his scheduled shots and the flu shot, he cried during but once it was over it was over. The pediatrician said these specific shots you normally see the side effects within 2 days... here we are 3.5 days later and still happy and healthy. Let's keep our fingers crossed!

We go back to the pediatrician in December for Hunter's 18 month well baby (more shots) and Alexis' 4 year check up. 

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. 

Infants & Toddlers Update: Hunter's Speech Therapy

Not too much to update but a few people have asked so I figure I will just write-up a short post. 

Alexis & Hunter 

This past thursday one of the Infants and Toddlers coordinators (not sure what her title actually is) stopped by for a meeting. We reviewed Hunter's plan, where he is at and where he needs to be.  I signed a lot of paperwork to give them the go ahead to start working with Hunter.  Our first speech therapy session isn't until Oct 6th and then it will be every monday after that (well actually its 4 Mondays a month, so if there is 5 Mondays in the month we will skip a week) They said they will reevaluate him in 6 months from this past thursday so we are looking around March 2015. 

Here are a few tips she gave us to help him along the way.

- Change the way we act with him.  Every mom knows what their kid wants without them actually asking for it... we need to wait for him to ask. 

- Talk to him a lot, especially when he is sitting in his high chair or bath tub so we are eye level and he can watch our faces.  

- Use simple one-two word phrases when we are talking to him

- Start simple sign language with him 

- Give him less food at one time so he has to communicate to us that he wants more

We started with the sign for "more" it's a pretty easy one and this was probably the only sign I successfully taught Alexis (& she used it ALOT) We are actually going to try to get Alexis to start using sign language so she can give us some peace and quiet.  wishful thinking :) 

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Infants and Toddlers Program

Yeah, I had no idea what it was either until I needed it. Infants and Toddlers is a program for early intervention for children ages 0-3. Any child showing delays of any sort can be recommended to the program by anyone parents, doctors, neighbors and its FREE. They will set up someone to come to your house for an evaluation and if delays are observed they will make up a plan (it has a fancy name IFSP maybe?) to get your child the resources they need. 

Walking into our appointment!

Hunter was referred to this program by his neurologist for possible speech delay. Prior to his hospitalization he would say "mama, dada & uh-oh" all the time but since hasn't said them much at all. The fear with LCHAD and them having metabolic crisis is it can cause developmental delays and mental retardation... Hunter's had two metabolic crisis.

Last Wednesday, Hunter had his evaluation.  We did it at the elementary school after we dropped Alexis off at pre school (first day, yay!) they came back and confirmed what I knew, his speech is delayed. The only thing that caught me off guard was they said he is at the same level as an 8 month old... um, what? That seems a little drastic to me but oh well.  This Thursday (Sept 4th) they are coming to the house to discuss his plan and what the schedule will be like. They did say they would be coming once a week to work with him and they normally re-evaluate every 6 months.  He can stay in the program as long as he needs or till the age of three when he will transition into pre-school. 

Here is the link to Cecil County's Infants & Toddlers program (here)

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.