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!