Goodbye Forever 2014

Goodbye forever 2014. You will go down in history as the most stressful year of my life.

This past January, one day before I was supposed to leaving for Cancun on a business trip you threw me my first wrench. Hunter had his first hospital stay which they told me "would never happen again." I cry thinking about how gravely different this January or any of Hunters 12 months could have been that he went undiagnosed.

We lived blissfully unaware of his disease for another 6 months until it happened again. Every thing was the same, I was living the same nightmare all over. Luckily for us the doctors at University of Maryland knew there was an underlying issue they needed to find.  After consulting a ton of doctors, the geneticist ordered the test that would give us our answers.

We were discharges from the hospital with the diagnosis of Fatty Acid Oxidation Disorder. That was enough information to read horror stories online and prepare us for the worst and drive us crazy with the unknown till they called 5 days later and said LCHAD. I had done my research and knew what that meant (or I thought I knew what that meant) I had read some worse case scenarios online.

Over the next couple of weeks working with the geneticist and nutritionist I realized this wasn't a worse case scenario LCHAD.

Hallelujah!

I had hit rock bottom of emotions, I had cried every time I was by myself for weeks, I had lost sight of what the future looked like but talking about Hunter's LCHAD gave me comfort and his future... our future was looking up.

Then Alexis got her diagnosis... what can I say, I had a handle on the disease but I NEVER expected she would have it.

We spent the rest of the year seeing specialists making sure they weren't having any complications from being undiagnosed for so long. I'm happy to say everything checks out perfect!

We are lucky and we are the minority of LCHAD'ers who survived undiagnosed and for that I am forever grateful.

This has changed our lives forever but I will not let this disease win.  We appreciate our friends, family and followers that are helping us educate and raise awareness.  We will continue sharing our story in hopes more people learn about LCHAD and we hope those with a new diagnosis of LCHAD find comfort in our story.

You may not be able to see the fight within their bodies but it is there and never going away.

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"

 

 

We ARE Lucky

After reading a post by The One in a Million Baby and another by Star In Her Eye I decided to put my thoughts into a post. Not long after Hunter's diagnosis and meeting other LCHAD families and even other FOD families did I realize how lucky we are.  But its weird to say we are lucky at all to anyone not dealing with a sick kid.

I use to think lucky was having a healthy baby when really that's not everything, it's all about how you look at life. I could choose to look at everything like "woe is me... why us... etc." but after the initial shock and grieving period I'm over that.  Life is too short to look at everything negatively. So here are just a few things I think make my family lucky.  

We are lucky to know our diagnosis

We are lucky that Alexis has never been sick.

We are lucky that Hunter has only been admitted to the hospital twice.

We are lucky that our kids are ALIVE! (5% of SIDS are caused by Fatty Acid Oxidation Disorders)  

We are lucky that our kids have always been in the 75th-95th percentile for height and weight their entire lives.

We are lucky that at every specialist appointment we went to this year both kids had good reports.

We are lucky that the only delay Hunter has after 2 crisis' is speech and he is doing amazing in speech therapy.

We are lucky for amazing insurance and a flex spending account. (Even though I complain about the bills we do get it could be much, much worse)

My kids are lucky they can eat as much fat as they can.

We are lucky social media is what it is today and we have access to 60+ LCHAD families all over the world.

We are lucky and extremely THANKFUL for our friends and family who have taken interest in LCHAD, learning about it and helping us spread the word and raise awareness.

& last but certainly not least, I am luck they are mine. God could have given these 2 amazing LCHAD'ers to anyone but he chose me and I couldn't imagine my life without them, genetic disorder included. They are making me a better person and I can't wait to see what unfolds in our futures.
      

SIDS statistic source

Marcello's Miracle Foundation

Marcello is a vibrant 10 year old boy with LCHAD, a rare genetic fatty oxidation metabolic disorder. The deficiency creates multiple health issues, from mild to very serious, including fatality if not treated properly. Marcello has faced many obstacles as a result of his disorder and will continue to do so as he gets older. He spent the first six years of his life in and out of the hospital, managing the side effects of his disorder. Despite all he has been through in life, he is such an amazing kid and enjoys life to the fullest!

Sadly, one of the biggest side effects of this disorder is he will eventually lose his vision from retinitis pigmentosa and macular degeneration. We have always known this was a potential for him, but we thought he had plenty of time on his side until this would happen - he's only 10! He began needing glasses at age of 6 for near sightedness, but wasn't showing symptoms of anything more serious until he was 8. At this time our nightmare turned into reality when he exhibited night blindness- the first sign that his retinal vision deterioration was progressing faster than we thought it would. Tests confirmed that this indeed was the case. It was devastating news. Since then he has undergone 3 ERGs in the last couple of years and each time there’s been additional loss, showing reduced and delayed retinal function with increased retinal lesions. The biggest chunk of deterioration occurred since April 2013, when his vision went from a 20/80 to a 20/100. Then in February 2014, his vision further deteriorated and is now 20/200 and he is legally blind in his right eye. His left eye is not too far behind. He has central vision issues due to the macular degeneration and peripheral issues due to the retinitis pigmentosa – both a direct side effect from his primary condition of LCHAD. His vision went from night blindness to now he no longer can see in low light situations, for example outside at dusk or at a dim restaurant.

For a 10 year old boy, he has been extremely brave in bracing what his inevitable future looks like. He speaks very openly about going blind to strangers and the possibility of needing a service dog one day. But, he also keeps the thought of a cure in his prayers each night as well. Marcello asks to be normal like his friends. He wishes he can play hide and seek at night or go night swimming like everyone else his age. Instead, when it’s dusk out he must come inside and wait for his friends to finish playing and join him inside where there is light. He is blessed with friends that are sympathetic to his condition and take turns staying with him and guiding him in low light situations.

We have worked with the school district for the last three years, where he’s been getting braille instruction in preparation for his vision loss. Starting this school year, he now works with the vision teacher 5 days a week, since his eyesight has rapidly declined since last year. Marcello also began using modified technology in the classroom last year because he is unable to see the Smart Board. He uses an iPad for learning, where all his textbooks and reading books are located so he can increase the font and lighting. He also uses a laptop in school for work assignments. Any paperwork that is handed out is magnified to 150% on 11 x 14 paper so he can see it.

There is finally hope… science is making great strides! As his parents we have been doing all we can to stay abreast of any research, trials and fundraising. There are approximately 250 kids in the nation with this disease, so there are not many research studies out there for this specific condition. The Oregon Health and Science University (OHSU) Department of Medical and Molecular Genetics has started a research study to determine the cause of retinopathy resulting from LCHAD Deficiency, so there is some renewed optimism. Once the cause is determined, they can begin to work on much needed treatment options. We have done many different fundraisers for this purpose, down to Marcello’s brother and friends making survival bracelets and selling them over summer break. Every bit helps! At this point, we require additional help with fundraising outside our immediate network to move this study along faster as we don’t have much time on our side. Our fundraising goal is to raise $20k in order to bridge the financial gap until they hopefully receive the very promising grant they applied for. Without these funds, the study will cease until the grant is awarded in June. They only have funds to keep the study running through February. Marcello’s vision doesn’t seem to be leveling off like we anticipated and thus, we do not have time on our hands for the study to be put on hold. It is our mission to raise money towards this remarkable new possibility of restoring vision for Marcello and the other children like him or with other genetic vision disorders. We don’t want to stop here though. We know there are families in need of technologies and assistance for their children who have debilitating vision issues like Marcello and we want to help. We are also optimistic that science will continue to progress and there will be other studies like the one in Oregon.

To help us with these efforts, we have created a non-profit foundation, called Marcello’s Miracle Foundation, which is a component fund of the Community Foundation of Orange and Sullivan. The Foundation is dedicated to advance cures through scientific research for pediatric-inherited eye disorders that cause blindness, while also providing a means of charitable support for affected families whose children are experiencing loss of vision as a result of their disorder. It is a 501(c) (3) and all charitable contributions are tax deductible.

We cannot do this alone. We are hoping you will support our mission and help us change the lives of many children!

With Respect and Deepest Gratitude,          

David and Lisa Archetti                 

 Marcello's Miracle Foundation Website & Facebook   
      

Elf On The Shelf

This is the first year Alexis really gets excited for our elf "Red" every morning.  I may make a post when Red goes back to the north pole to recap all of his adventures but for now I will just share his LCHAD adventures. Red has LCHAD too :)

Skinny Mashed Potatoes

I had this great plan that I would prepare an entire meal that my kids could enjoy for Thanksgiving, low-fat everything that was actually good... Well, that didn't happen. I had to work Thanksgiving and then the schedule was just crazy it was impossible to do it another day.  One thing that is a Thanksgiving staple that we do eat for dinner on occasion is mashed potatoes! So I wanted to share the recipe here and maybe next year I will have more recipes to share. 

What do you put in mashed potatoes normally? Potatoes, milk & butter...  Milk is easy you can use skim and call it a day but butter? The lowest fat content I can find in butter is 4 grams in 1 tablespoon. Most recipes call for 2 tablespoons of butter so it wouldn't be too bad except for those with LCHAD that are limited (most can only have 10-15 grams of fat a day) and then mix it in with everything else you eat that has fat in it.  

I don't remember where I found the original recipe, and I just eyeball ingredients but I found Campbell's Recipe which is exactly the same so I am just going to use their measurements. 

Picture from Campbellskitchen.com

Ingredients: 

- 5 large potatoes, cut into 1 inch pieces 

- 3.5 cups of Fat Free Swanson Chicken Broth

 1. Add potatoes and chicken broth in 4 quart saucepan, bring to a boil, cook on medium heat. Cook until tender. Remove potatoes from chicken broth (saving the chicken broth for later use) 

2. Mash the potatoes with 1 1/4 cup of leftover broth. Add more for desired consistency. 

The chicken broth has 0g fat and potatoes have 0.2g in 1 medium potato, depending on the size of your potatoes this side dish has around 1 gram of fat for the entire dish!

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 

Single Serving Chocolate Cupcakes

I am not a cook. I do enjoy cooking.... eh, kinda. & I hate cleaning up afterwards!

With that said, I am officially on a mission. A mission to learn to cook healthy, yet delicious kid-friendly foods. LCHAD'ers are on low-fat diets but not just any low-fat diet they still need calories for energy. So, we need foods with lots of carbs and calories but little fat. It's challenging.

I'll do my best to document this mission along the way and share things I learn with you. If you have any advice or recipes to pass along please share!

The first recipe I have to share with you is from The Comfort of Cooking I just tweaked one ingredient to make it LCHAD friendly. I was looking for a recipe for one or two cupcakes that was LCHAD friendly, something easy enough that I could make and take with us to birthday parties we are invited too so they can partake in cake and we don't have to worry about the ingredients.  The Comfort of Cooking has Nutella frosting to go with this recipe if your interested, I haven't gotten to the point of making icing yet. First things first and her frosting recipe has butter in it so I know its high in fat.

Single Serving Chocolate Cupcakes 

Yields: 2 cupcakes

Fat content and calories depend on exact ingredients you use, mine ended up being less than 1g per cupcake! 

Ingredients:

- 3 tablespoons flour

- 2 tablespoons granulated sugar

- 1 tablespoon unsweetened cocoa powder

- 1/4 teaspoon baking soda

- 1/8 teaspoon salt

- 3 tablespoons skim milk

- 1 tablespoon MCT oil

- 1/2 teaspoon vanilla extract

*For non-LCHAD folks use vegetable or canola oil instead of MCT oil
 

Pre heat over to 350 degrees. Either line your cupcake pan with a paper liner or you can spray with non-stick cooking spray.

Mix together all the ingredients. (I was going for simple so I used a regular bowl and fork to mix everything) Divide evenly and cook for 20-22 minutes.

*I was anxious, I pulled them out of the oven too soon so the center sunk a little, still delicious! 

Meet Luke- Our New LCHAD Friend!

Talking to LCHAD moms of older kids has really helped me in our LCHAD journey, talking to them and hearing their stories assures me that eventually this storm of a journey we are in right now will eventually be calm. Thank you Beth for sharing your story with us.

When Mike & I got married, we knew we wanted several children. I got pregnant with Luke on my 1st try and we were elated. He was due in early October 2005. In late July, however, I started not feeling well. I had frequent bladder infections & lots of swelling in my body. I kept getting dismissed as "you're pregnant and it's summertime". On August 20th, after having been to the doctor 3 times that week, I felt the need to call the doctor again. I was nauseated, had a terrible headache, swollen so badly I hardly recognized my own face, and had not peed in days. Tests at the local hospital revealed I had HELLP syndrome & had to deliver within the next 24 hours. Because he was also breech & I have MS, they did not want to risk an epidural with my elevated blood pressure. I was put under general anesthesia, and had Luke via emergency c-section at 4:44 pm. At 33 weeks, he was 4 lbs 12 oz and was whisked away into the NICU. At 5 days old, we were told that he was flagged for LCHAD on his NBS. By day 6, he was ambulanced to Children's Hospital of Philadelphia to be further evaluated & treated. It was a nightmare! After much genetic counseling regarding Luke & my pregnancy complications, it was determined that another pregnancy would be risky. The first few years were very difficult. He was hospitalized numerous times for with various infections, including ROTA virus at 7 months which almost took his life. Over the years, he's had a g-tube insertion and a port insertion to help keep him strong and metabolically stable during illness. Today he is a very active, bright, spirited, caring, & "normal" 9-year-old boy! While we continue to have hospitalizations & dietary restrictions, he has come a very long way. We feel blessed to have been given this wonderful little spirit!

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!

Meet Lisbeth- Our New LCHAD Friend

I have had the opportunity to meet some really awesome parents & kids that are going through the same struggles as we are. This is Lisbeth, she was born June 3, 2014 and after spending 3 weeks in the hospital when she was 2 months old she got her diagnosis of LCHAD.  Lisbeth also tested positive for LCHAD on her NBS but didn't get those results until after she had her crisis and hospitalization. Her mom blogged the hospital stay, here it is if you want to read it and show some support.  Lisbeth's mom also started a facebook page for LCHAD awareness. Go & Like it!

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! 

At least they have each other...

I don't know why this has been so hard for me to write. I've been in denial and was content living there but since I can't stay in denial anymore I just feel lost and my heart breaks when I talk about LCHAD. 

They confirmed Alexis does in fact have the same 2 mutated genes as Hunter, which means Alexis has LCHAD. I am relieved we have answers, I am relieved that Alexis & Hunter will be able to support each other in this journey, I'm sad for Alexis and I am scared. I am scared for what the future holds for my children. I am scared that something will go gravely wrong because people are writing Alexis'  disease off as "not that bad..." it is that bad. Her day-to-day life may be normal but her disease is the same. 

How can Alexis have it? She's never been sick! I'm actually getting annoyed of hearing that. I don't have answers for you, all I know is that if my kids eat enough everyday they will have enough energy everyday to keep going and if not they will end up in the hospital or worse. Alexis has always been a good eater... yes she's been really sick before (once) and didn't end up in crisis. We are lucky. This still does not change the disease. 

My kids will live a normal life but they need to be treated a little bit different. They need to make sure they are eating what they need to eat everyday & it is important that we take extra precautions to make sure they do not get sick and those around us need to take those extra precautions. I hope everyone is listening to me... don't come around us when you are sick and get your flu shots!!! 

Immediately after finding out Hunter had LCHAD my dreams of having a big family were shattered, how could I take care of 2 kids with special health needs. What if they both get sick and are both in the hospital at the same time? How can I split my time between hospital rooms? It wouldn't be just about keeping Hunter healthy and away from sick germs all winter, how could I do it with 2 kids? These were all questions and doubts I had that made me decide having more kids naturally was out of the question.

Well here we are.... 2 kids with LCHAD.

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.

Cardiologist Take 2

TGIF?... no, not for us anyways, at least we had good company! Jessica agreed to brave the doctors visit with us so I didn't have to go by myself. To some reading this you might not know what that means but that meant me, Jessica, Alexis, Hunter and our favorite twins, Cora and Finn!

The ride was uneventful and we arrived on time! I had already decided Jessica would just hang out with her kiddos and one of mine in the waiting room while I took one back to get their Echo/EKG/blood draw and then swap and repeat

Breakfast Club

We signed in and I took Alexis to the bathroom while we are waiting, only to attempt to return to the waiting room and be greeted by two techs with paperwork trying to take one kid in a separate direction.  Does that sound like a good idea to anyone? One mom, two kids, two traumatic procedures in two separate rooms!?  They didn't seem to care and claimed they were just trying to help us because our appointment was already going to be long enough. So Jessica took Hunter and Cora in one room and me, Alexis and Finn went to another room. The second we walked into the room Alexis started to freak, mind you I already explained what was going to happen, she would get stickers and we were going to look at her heart and it wouldn't hurt and she was fine with the idea. The tech was less than amused to be dealing with Alexis at this point. I got Alexis sitting on the table and said let's get stickered, the tech said no she needs to be laying down... she wasn't going to lay down.  The tech finally obliged and started putting stickers on, Alexis wasn't happy but she was handling until she saw the wires attached to the stickers. 

She freaked! Instead of the tech trying to show them to Alexis or put the stickers on without the wires she just kept going. Needless to say Alexis ripped all the stickers off. So I looked at the tech and said what are the other options if she doesn't cooperate? (I was already half holding her down at this point) and she said just that you hold her down, so I said okay... let's do this and Alexis started kicking. With the crappiest attitude she looked at me and said I'm not doing that and I'm not getting kicked today. She's going to have to get a sedated Echo.... Are you kidding me!? She freaked out this much getting her blood pressure taken 3 days ago and we thought this would be easy??? At this point the door opened and the other tech came in carrying Hunter, followed by Jessica, followed by the cardiologist.  The cardiologist knew I wasn't happy and Jessica said she wasn't happy when she walked into Hunters room and realized I wasn't with him. Supposedly that tech got 2 pictures and said that was enough. I expressed my concerns of what had taken place so far and said I was not happy about getting 2 pictures of Hunters heart and non of Alexis' after we drove all the way here. She said we could keep trying with Alexis and then try Hunter again with me in the room. Alexis finally went through with it and the tech said she got "most" of the pictures she needed. 

So round 2 for Hunter, I'm holding Hunter down, Jessica's holding his legs and the tech gets started she spent 5 minutes (it felt like a lot longer then 5 minutes) looking at his heart pretending like we were getting what we needed while Hunter is screaming, then she gets up and says none of these pictures turned out because every time he took a deep breath it covered his heart... IT TOOK YOU 5 MINUTES TO FIGURE THAT OUT?!!!! At this point I was done, the cardiologist said she will review what they got from the Echoes or lack there of and see if we need to do more or if it was enough information and she asked if I still wanted to try EKG's and their blood work today. I asked if the blood work people in this office were actually good with kids or not, I wasn't going to torture them with an inexperienced tech. I was assured they do peds all day, they were good. Hunter had an EKG in the hospital so I told her she can look that up but we can try Alexis' still as long as whoever does it takes the time to explain what they are doing first. 

Alexis and I were moved to a smaller room for the EKG and Jessica took the kids out to the waiting room. I was getting frustrated with how long we were waiting I was getting ready to call Chris to tell him I was just going to leave and we could reschedule and figure this out another time when the tech (a different one) came in to do the EKG. Lucky for us she was amazing at explaining everything to Alexis! A few random tears were shed but we got the EKG within minutes... amazing what can be done when you care enough to explain things rather than just doing them. 

Then blood draws, ohhhhh blood draws. I got mine done first. Alexis refused to go next so we sent her to the waiting room and attempted Hunter. You should guess this by now, they missed. I should have walked away then because I LOVE the girl who does blood draws at sub specialty at University of MD and would not have missed. Seriously, I will never go anywhere else anymore. Alexis' turn, she screamed and it took forever to get the blood they needed but we got it.  Then they tried Hunter again, they actually were successful this time. However, they needed so much blood when they were on their third of the five tubes of blood they needed, they lost it (no one was holding the needle, just holding his arm... real smart people!) That was it, we weren't trying again. Poor Hunter was so worked up at one point he just closed his eyes during the blood draw and they said aww is he going to sleep? That wasn't my thought, my thought was holy crap we are going to end up in the hospital! 

We high tailed it out of there! The doctor said she would call me that night with the results... she didn't call.