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. 

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. 

Resource Roundup: Awesome Kids Foundation

I was lucky enough to come across this foundation a month or so ago, the founder is amazing! I emailed her about Hunter becoming an Awesome Kid and she emailed me back within 12 hours. She is so understanding, so willing to help and she cares! I cant wait for the day I can do more for these kids! All of them have amazing stories, so if you have a minute stop on by and read there stories and if you feel compelled donate!  

Website: awesomekidsfoundation.com 
Facebook: The Awesome Kids Foundation 

Here is Hunter's Link 

Special Health Needs Blogs

As a mom to kids with a rare disease, there are days you set out to find others going through the same thing. I have a small group of moms from all walks of life that have LCHAD kids but for some reason I still find myself searching online for happy blogs about kids with rare diseases and let me tell you the sad blogs defiantly outweigh the happy ones. Searching can put you in a dark place but for some reason I still find myself looking. 

I read on one blog sick kids are like finding a new car. You never noticed that car until it was specifically pointed out to you and then you see it everywhere. Every where I look I find kids struggling with rare diseases, diseases I had never heard of. It is heartbreaking

I decided to compile of list of blogs that are not overly heartbreaking. Stories of kids with rare diseases but they still look at life as their glass is half full, rather than half empty and depressing all the time. 

I hope if your online searching for happy special health needs blogs you come across this post and your day is not so depressing. I hope these blogs leave you in a better mood even though I know first hand how hard some days are. 

Epilepsy warrior www.justsayhi.org

Rubinstein-Taybi Syndrome (RTS) braxtonjoseph.com

Tuberous Sclerosis Complex (TSC) www.nelsonfamily2008.blogspot.com

Oh & Special Health Needs Parents read {this} 

**I will update with more blogs as I come across them, for now I can't bring myself to search anymore 

IMPORTANT! Newborn Screening Call To Action

I write this post with some mixed feelings. Newborn Screening is important! Something parents of healthy babies have probably not even thought twice about. They give your newborn a little heal prick when you are in the hospital, send their test results away and most times the parents will never hear anything else about them. We didnt anyways until AFTER Hunter's diagnosis.  

LCHAD is one of the 31 diseases they test for with NBS. Hunter's test results came back "slightly elevated. Likely non specific. Repeat test." His second test came back normal, which according to our genetics doctor is normal for "best case scenario" LCHAD like Hunter.  What my research has turned up about his first test we should have been referred to a specialist then. Let me run something else my research has turned up by you... Some patients die in their first episode of fasting. So just add the missed opportunity for diagnosis at birth and what could have happen the first time he was sick when we kept him home instead of going straight to the hospital.... you can figure out what could of happened. 

While Hunter isn't a positive NBS story, NBS is still a huge part of LCHAD diagnosis. March of Dimes is asking us to take 5 minutes on monday to call our Senators and tell them NBS is important to us! 

Deb the founder of FOD support gave us this information about who to call and what to say.  5 minutes of your time!! 

Just follow these two easy steps:

1. Call the U.S. Capitol Switchboard at (202) 224-3121 and ask for your Senator’s office. You can identify them by name or, if you don’t know their names, tell the operator what state you’re from.

2. When you are transferred, identify yourself and ask to leave the following message for the Senator. “My name is Jane Smith, and I’m from (your town/city and state). I would like to leave the following message for the Senator: As a constituent, I am asking the Senator to support swift final passage of H.R. 1281, the Newborn Screening Saves Lives Reauthorization Act. This bi-partisan bill helps save babies’ lives by supporting screening for genetic conditions that are deadly or disabling if not identified and treated at birth.

This legislation is incredibly important to our nation’s infants and families, so I urge the Senator to make this a legislative priority, and support final passage of H.R. 1281 as soon as possible. Thank you for your time.”

Here you can find the official Call for Action from the March of Dimes 

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)

Resource Roundup: Gracie's Gowns

*I'm going to try to post resources to help us moms when I find them. I know there are a ton out there that we dont know about yet. If you know of any- let me know! 

One thing on my to-do list before flu season comes around is pack a bag so if we end up in the hospital we are ready. One thing on that list is a 'cute' hospital gown (one day he will kill me for saying that) I also want his hospital gown to open to the sides instead of the back so if he is sleeping on his belly or back they can easily undo his gown to reach what they need to and hopefully he will sleep through it. Instead of finding a tutorial to add to my to-do list I came across Gracie's Gowns. amazing! You can go to their website and request a gown for free as long as your child is under the age of 18 and have a life threatening illness or chronic illness that results in many hospital stays.   

According to their website they have sent out over 1,469 hospital gowns all across the US since they started in March, 2012. Check out there website and Facebook page for more information and ways to help, looks like they are planning something big for Christmas this year!