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!