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!

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 

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!

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!

Blog Name Becomes Official

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

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

Genetics/Cardiology Appointment

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

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

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

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

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

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

stack of paperwork...

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

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

Mitochondrial Disease Awareness Week 2014

Hey everyone! Its Mitochondrial Disease Awareness Week! If you could take a minute and share these pictures on your social media outlets I would greatly appreciate it. 

Here is a link to our Facebook Page Hunter's Heroes- Lchadd Awareness 

What is Mitochondrial Disease? 

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fain, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Continue Reading on UMDF.org

Hunter's journey so far... 2 separate weeks spent in the hospital, 3 trips to the ER, 2 ambulance rides, 1 misdiagnosis, 1 CT scan, 1 MRI, 1 EEG, 1 liver sonogram, 50 + missed IV/ blood draw attempts and  8 doctors appointments in the last 2 months. 

Alexis' journey so far... No hospital stays, no ER visits, no ambulance rides, 2 blood draws and 2 doctor appointments. 

What is LCHAD? LCHAD is a rare disorder that prevents the body from converting certain fats into energy. This can be life threatening especially during periods of fasting. 

Eye Doctor Recap

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

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

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

 

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

Then came the eye drops... 

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

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

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

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

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

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

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 :) 

Follow my blog with Bloglovin

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)

Heartbreaking conversation with Alexis about LCHAD

I should have known Alexis was going to ask questions, she is at that "why, why, why?" stage but for some reason I was still caught off guard when Alexis asked me "Why do I have LCHAD?"  The first time she asked me it was so unexpected I just replied with the generic answer "you were born with it" she didn't ask anymore questions so I was off the hook.  Later that night I was talking to Chris about it and realized Alexis deserved more of an answer.  She was smart... she knows what is going on or at least she knows something is going on.  I wasnt really sure what I was going to say, she's special? God knew she could handle it? What can you say? "Well kiddo me and your dad both carry the gene so your just that lucky 25%." Things like this don't come in your mom handbook when you give birth, nor is it something you chat about with your mom friends. 

Even  though I had no idea what I was going to say I waited for the perfect time to bring up LCHAD with Alexis and ask her what questions she had (other than the obvious "Why?") I needed her to be calm so she would actually listen.

At dinner last night, Hunter was in his high chair and Alexis & I were sitting at the dinner table. I took the plunge, I asked her if she wanted to talk about LCHAD.  Of course she said yes, and I said you do know your special and that's why you have LCHAD, right? Then in so many words she asked why she has it now since Hunter just found out he had it.  Holy cow, how does she know this! Either way I explained to her that Hunter got sick and they found out he had LCHAD so they just wanted to double-check her blood work. 

*insert 3-year-old reminiscing about her last blood draw*

Heartbreaking conversation w/ Alexis about LCHAD

I told her, her blood work came back that she was awesome and had LCHAD. She was pretty happy her blood work came back awesome but still not convinced LCHAD was here to stay. She kept asking when it would go away and when it would come back.  Without knowing for sure that she has it (see earlier post, im still in denial) I really can't do much more convincing. So I just skipped ahead and told her that we will know at her next doctors appointment. The next appointment where they are going to check her eyes and then draw her blood. 

"What!? Noooooo! I don't want my eyes checked" She then showed me where she got stuck the last time and covered it up.  Poor kid. We talked about how everyone gets there eyes checked and she seemed okay with it & went on to tell me who she wanted to come to her doctor's appointment "Mom, Dad, Jake (our dog), Tanker (the cat).... no animals? What about a chicken?"  Did you notice she didn't name Hunter? She told me she doesn't want him there, sorry kid he's going to the eye doctor too. Unfortunately, Dad starts his new job that day too so he wont be there. Alexis told me to text her Aunt Michele and ask if she would come. So hopefully it will be Alexis, Hunter, Me and Aunt Chele on this adventure to get Alexis answers and to make sure there eyes are okay. 

Here is my not so professional advice about how to explain things to a preschooler

1. You can't avoid the topic forever, your better off just sitting down with them and explaining it

2. Make sure you catch them when they are calm, not bouncing off the walls. You want them to actually hear what you are saying. 

3. Don't lie! 

4. Somehow make it so they understand. If they have never heard you talk about it you might have to keep it simpler then if they have heard you talk to other adults about the disease. 

5. Give them something to be excited about. ex: Alexis' blood work comes back "awesome." Now she's excited for her blood work to come back awesome. 

Kids? Why does her blog say LCHAD kids?!

I havent been very vocal about this because I don't believe it myself yet, I'm pretty much in denial but a few weeks ago they called me on a thursday and said Alexis' blood work came back a little off and all that meant to them was... they didn't know. They shipped her test results to a biochemist at the University of MD and then called me friday.

The call friday left me in shock, I thought for sure they would tell me she was just a carrier. She's never been sick! WRONG they said Alexis' blood work looks to much like Hunter's and they are pretty sure she has it. To the point they made her an appointment with the geneticist, heart doctor and eye doctor next month so she can go at the same time as Hunter. That "pretty sure" is the only thing im holding on to until she gets more blood work drawn and they actually look at her DNA and give me a definite yes or no.

September 8th is the big day for her. We will be going down to University of MD to see the eye doctor and after that we will pit stop at sub-specialty to get her blood work done. Since they found both of Hunter's mutated genes it shouldnt take long (or so they say) to get the results back.

In the mean time Alexis started pre-school!! With the precautions of "likely" LCHAD, since we don't know (& I'm in denial) I havent put too much thought into the fact that im sending my special health needs child to preschool, all I did was talk to her teacher and school nurse about LCHAD and give them a LCHAD FAQ and her ER letter. On her health form she had to get filled out, the pediatrician said she might need a snack during the day and if she asks for one she should be given one. So I did send a box of those applesauce squeeze pouches and left them with the teacher as a just in case.