Early Intervention

"Early recognition of signs of autism -- a neurodevelopment disorder that leads to impaired language, communication and social skills -- is vital because it can lead to early intervention, says Dr. Gary Goldstein, an autism specialist and president of the Kennedy Krieger Institute in Baltimore. http://www.cnn.com/2012/03/29/health/autism/index.html?hpt=hp_t1

Will is not autistic, thankfully, that's not a worry for us at this point. However, I read this article and it just further emphasized the need for early intervention. Had our pedi not given us some good warning signs and introduced us to the right next steps, Will still might not be walking or doing as well as he is.

Not to pat myself on the back, but I think you have to be pretty brave to say, "something is not right with my kid" and push for diagnosis. It's nothing I want to do again, but will because it's the right thing for my kid. For a while this pursuit of diagnosis was an unspoken, but real tone of conflict in our house between Neil and I. Neither of us wanted anything to be wrong with Will, but something just did not feel right. We're both glad we now know and can do as much as medically possible to provide for Will.

Early intervention, early diagnosis worked out well for us. I know for some that's not an answer.

Random post, random thought. Happy Thursday!

Sleep Study

Great news! Sleep study results are in and everything is normal. I had done a very nice long post about our overnight trip for this sleep study and thanks to technology, it magically disappeared.

The really awesome news is that we had an appointment scheduled for tomorrow to hear all the results. Instead of just showing up for the news, I called to see if we could cancel the appointment if the results were normal. Boom! Normal results, no appointment. So happy.

Here are some pics from the sleep study where "Doctor Boy" our technician hooked Will up...

Getting started

Birds eye view of his head. They just put a gummy / gel like substance on his head that attached the electrodes. Kind of cool, but not really if you're the one wearing it.

Seriously, it looked like an electricians toolbox.

The final result - that nose thing was to measure breathing output. The mesh netting on his head was his "football helmet" that we said how cool he gets to sleep in a football helmet. Yeah, he didn't buy that.

You get kicked out about 6 a.m. This was the departure photo.

That's right folks... you go get hooked up to all that stuff, are supposed to sleep normally and then get woken up at 6 a.m. with the bright overhead lights and they rip electrodes off your skin. Sounds like our kind of party.

Of course Will was a champ! He and "doctor boy" our technician got along well and we left with 4 stickers and a chocolate milk. 



Special Needs - When did that happen?

When the $#&*&@ Did We Become Special Needs Parents?

Since Will's 15 month check up  nearly two years ago I have spent serious brain power avoiding the word special needs. I had convinced myself that He was just in some therapy, things would be fine. Those AFO braces are just a little helper for our guy. He won't need them in a few years....

Since July 5, I have fumbled around trying to find a word to describe Will and our new situation, diagnosis, health crisis… whatever. I could never lump him into the special needs category because that would mean all this was real. It would be a label, a stigma even.

I’ve tossed the words around, quietly, I guess trying them on to see if I would use them. How I’d use them, would I just tell someone that so I didn’t have to go into detail and avoid a public (embarrassing) break down.

This last hospital visit – ug. It really sucked. The previous hospitalizations have been quick, understandable (vomiting, ear infection/fever) but this one was just an unexplained fever. What the heck?? And it was a high fever, 103.9. Where did this come from? Why? Was this a progression of the Mito disease? Come to find out a couple of kids in his class had the same thing.

So a reminder, research has indicated that the lesions on Will’s brain can be caused around viral infections, high fevers and they can also just show up without any reason. Research also indicates that if we can get Will on IV fluids quickly during these infections that there is a chance of reducing or eliminating the deadly effects on his brain.

Calling Will a special needs kid means labeling him into a very very wide category of abilities. Before all this, I had my own narrow minded views of what special needs kids were like. Not my son, he wouldn’t ever be in this category.

So all this mental fumbling around, a hospital visit, a very unsteady Will and then I read two articles…

http://www.huffingtonpost.com/maria-lin/special-needs-parenting_b_1314348.html

http://www.exceptionalfamilytv.com/blogs/families/michelle/five-things-you-should-know-about-special-needs-family

Focusing on the first article, what the author describes as characteristics of special needs parents:

-I am tired.

-I am jealous.

-I feel alone.

-I am scared.

-I wish you would stop saying “retarded, Short bus, as long as it’s healthy” (I actually disagree with the last one in some aspects.)

-I am human.

-I want to talk about my son / It’s hard to talk about my son.

So, based on these descriptions of what special needs parents experience, two things solidified in my head, punched me in the gut, slapped me in the face:

1.      I (We) are Parents of a Special Needs Son. A beautiful, amazing, wonderful, incredible little boy.

2.      I can’t work on maintaining friendships that can’t put forth understanding on their part where we’re at now.

He has a degenerative, progressive disease. He has a list of special needs, shorter than some, longer than others. This is not going away.

One day, it’s not going to be ok. This is the reality of our special needs child. I’d add to the list above “It’s not going to be ok” – it’s not. Every minute of the past few days have been consumed with, is he going to get back to baseline? Is this it? Will he wake up tomorrow and not be able to walk?

No one, including myself, wants to discuss it. I know the easy response is that he’ll be ok. I can’t fault people for saying that. Hell, people ask me the dreaded “How’s Will doing?” question and I just smile and say good or great.

I ran into a guy I knew from college at a funeral a couple weeks ago. He sat down and asked, “So, what’s new?” I actually said to him, “Well… two answers for you, not much or where to start?” We both laughed and the turned our attention to other conversations. He was just making small talk and I can appreciate that. But it’s kind of the same thing when you ask, “How’s Will?” – I know you care otherwise you wouldn’t ask, but I just don’t know where to start.

Heck, some people who are my friends don’t even take a few minutes every once in a while to read the blog. I know that sounds terribly narcissistic, but I’ve realized that if you don’t truly care about my special needs son then our friendship isn’t really what I thought it was. This is my life now. It’s left us black and blue. I’m ok if you can’t handle it, I can barely handle it. Reference item 1 on the above list, I’m tired. I can’t work on maintaining friendships that can’t put forth understanding where we’re at now. I didn’t ask for this and you didn’t either, but here we are. You don’t have to know anything about the mundane aspects of his meds, dr. appointments, latest hospital visit, but a genuine and honest caring question goes farther than you could imagine. I’m not whining, just one of those realizations that hit me while reading the articles.  

I should note that you shouldn’t take offense if I cancel, miss plans, avoid you or flake out. I know those are not good characteristics of a friend. I’m trying, but sometimes sh*t happens and I have to make Will, his needs and sanity the priority. See item 2, I'm jealous. It's hard to be around pregnant women, families with kids running and jumping etc. Some days I'm just not mentally tough enough to hear/see everything.

I fake myself out every day that this special needs kid is going to be ok because he’s doing so well. We’re going to be the one that beats it, that makes it, that this wasn’t the right diagnosis. FALSE.

Maybe we won’t beat it or make it, but if I sit back and think about it – maybe it really is happening. Maybe we do have a little miracle in front of us and don’t even know it.

I just reread my post and realized it’s a hot mess of emotion and fairly difficult to read. I told myself I wouldn’t self-edit because then I’d lose the honesty of our life and one day I want to look back at this blog as a scrapbook of sorts.  

On the scrapbooking note, I started my new schedule today, 10 a.m. – 4 p.m. It was liberating to not feel like a guilty machine. Will was able to get some much needed extra sleep, I was able to talk with his teachers without checking the clock, I picked up/dropped off dry cleaning and made it on time. I got to pick Will up and spend more time with him, cleaned up the house and made a pretty good dinner! Maybe my mind is more clear today which is why I threw up all over this blog. J

HOME!

We are home! Will post more later.

ER trip #3

On Sunday night about 11:30 p.m. Neil noticed Will was burning hot – I suppose one of the benefits of letting him sleep in our bed. We took his temp under arm and rectal and we were up to 102.8. Gave him some Motrin and packed up and headed for the ER.

Of course, we arrived in the ER with no temp and I felt like I had imagined the whole thing. We finally got into a room about 6 a.m. and found out that his temp was back in the morning, 100.7. He ate a great big breakfast and all his labs were coming back normal.

On Monday, around 11 a.m. his fever spiked up to 103.9. We started cold compresses and he finally crashed for a nap. We had a slew of doctors come in about an hour or two later and checked him out. He was still looking very bad so we’ve been alternating Motrin and Tylenol. Late afternoon his fever finally lowered to about 99.8.

He remained low grade and fever free all night and through Tuesday mid-morning, then the dang fever came back. Tuesday was spent up and down on fever with some highs and lows. We re-ran all his labs and everything came back normal. We also did a suppository and he had a nice big BM, in the potty “hat” – yes, they capture all his urine and BMs in a plastic cup that fits over the toilet. It looks like a cowboy hat.

The poor kids hand looks like a pin cushion. He’s been a real trooper, but Monday was not a good day, at all. We’re obviously concerned about new brain lesions around this fever, but just need to focus on getting him fever free, rested, hydrated and eating better. We are on isolation so everyone who comes in is required to wear a mask, gloves and a plastic gown. It freaks me out in the middle of the night so I can only imagine what he thinks when they come in thirsty for blood at 4 a.m.  

We were admitted on to floor 8 – I’m not a fan. Dr. Koenig moved us up to pedi NICU on 9 and we’re much happier. It’s quiet and the people know what they are doing. On 8, they just put his EPI-743 out on the counter… I had mentioned about five times that it can’t be exposed to light and needs to be kept cold.

I spent the night Sunday and Monday and Neil is on duty tonight. I have serious doubts that we’ll be released anytime soon. My hope is for Thursday or Friday so it would give us the weekend to get him back up to speed at home.  

Child Life aids brought up a little car / scooter and Will enjoyed scooting around a bit on that.

As of Tuesday night about 10:30 p.m. Will is being a bit of a rascal for Neil and not going to sleep. Hopefully that little turkey gives it up soon and they both get some rest.

Will keep you posted on progress. Hopefully we'll get some sort of diagnosis, if not, I guess it's just a weird fever.

Update: Wed. 10:15 a.m. - Will did not have a very good night's sleep, but was in a good mood Wed. morning. The doctor came by and everything is coming back negative or normal so they are stopping the antibiotics and will with the IV fluids and Motrin as needed. While he continues to have fever, the numbers are trending down, so that's a good sign. Hopefully today he will trend to low grade and maybe by Friday we'll be discharged.

Update: Wed. 4:30 p.m. - Will had a low grade fever 99 for a bit. He got a sponge bath. His IV was leaking so he got a new one put in. At a pretty good lunch. No nap and has been watching a lot of Barney today. Might have to get the young man a new Barney movie tonight on the ipad. For sanity purposes. You can only listen to Baby Bop sing "No no no no no" so many times.

No Comment

As a public relations professional, the words no comment are a big no-no. There's always something to say, just need to find the right words.

So, my comment to all our blog commentators - thank you! It makes me smile every time I see a comment post and it kind of makes me feel like I'm not just typing to the wall. This is my outlet, our family scrapbook of sorts and a way to spread awareness, but sometimes it's an awesome form of encouragement and helps keep both of us going. So, thank you for taking the time to comment.

TGIF!

My little "Superman" or Batman as he is into these days. Age: 11 months

Exciting News

I'm really excited to share... It's finally official. I am going to start a reduced work week schedule on Monday, March 19.

My clients, team and peers have been looped in and I can now officially shout it out :-)

I will work Mon - Fri, but my hours will be more like 10 a.m. - 4 p.m. I'll be able to get doctor's appointments done, therapy, bills, calling the insurance company, keeping up with life in general and maybe even getting a few gym trips in every week. The best part is, more time with Will and more quality fun time for us on the weekends as a family. I'm looking into aquatic therapy and maybe swim lessons!

I am very nervous, anxious and excited to start this next chapter. I've been with the same PR agency for going on eight years now. I am just so thankful and honored that my manager and our whole leadership team has been supportive of this change. Without their support I don't know how I would have made it this past eight months, much less since Will was born nearly three years ago.

To kick off this new schedule, I'm doing something for myself on Monday, March 19. I have a dentist appointment and am going to finally get my own teeth cleaned.

Health update

We are set for ear tubes surgery on Thursday, April 5. Unless something goes seriously wrong between now and then. It's just a day surgery and he will be put under anesthesia. The last time he did great, minus his first and only a$$-plotion of poop before the surgery.

The BMs continue as well! TMI and don't read it if you're grossed out by poop, but he literally had three feet of poop on Saturday.

It seems like Will really turned the corner recently. After a month or two of green snot, it's all cleared up, his BMs are on the serious uptick and his gait is getting better. The weight belt really seems to help give him more balance so we've been trying to wear that more at home too.

Let's hope and pray for a good health streak. The next two months will bring many changes for therapy. Our ECI services will end on his 3rd birthday (April 24) so I'm exploring new options. If anyone has suggestions happy to have them. We're looking for PT home health services and aquatic therapy. Right now, I've got us on the wait list at the Care Group of Texas for both.

We go in on Tuesday for 3 month labs for the EPI-743 trial and a hearing test. We have to do a hearing test before the ear tubes and then again after.

"Foot ball player" - Bike helmet, winter gloves, PJ shirt and of course, the football.

Tackling mom!

Two Mito Angels...

I didn't know them, won't ever know them and will likely never meet their parents.

A year ago this week, two families both lost their sweet babies to mito. I don't pretend to know how they feel nor try to understand because that's not my place.

I however, have this weird (probably one-sided) connection to them. It's almost like they are role models or mentors and I am sure neither realize it. I soak up their blog entries in what I would assume is in a not appropriate way. I'm trying to figure out how to do this. How do they handle it? How did they handle it? What lessons are their angels teaching them and therefore teaching others? Other families? Other strangers, like me?

I've been told that Will has already taught people so much. I know he's taught us more than I will ever grasp.

Sending happy thoughts, peaceful prayers and good vibes to their families during this difficult week and the days and years to come. Please join me if you so desire.

Please sign this Petition

Please consider signing this petition. I did it and it was quick and easy. Yes, you have to create a user name, but isn't it worth it? The National Institute of Health can directly and indirectly impact research for a cure.

 

Increase NIH budget to $33 billion dollars next fiscal year! A flat $30.7 billion will kill jobs and

wwws.whitehouse.gov

The proposed flat NIH budget will close labs nationwide, kill good-paying jobs, damage our worldwide medical research dominance, and hurt state economies. NIH jobs cannot be outsourced.

Rare disease awareness

Exceprt from:
http://www.youtube.com/watch?v=aMMBmc_pQVA&feature=youtu.be
At about 13 minutes, it references Dr. Enns and the EPI-743 drug study.

"Defined by law, a rare disease is defined as a disease that affects less than 200,000 people each. With more than 6,000 rare diseases, it affects up to 25 million American’s. Rare disease treatments are difficult to come by, why? Because it’s not profitable for pharmaceutical companies to invest in a disorder that involves only 20… 500 people… "

About the speaker from the TEXx program: Dr. William Gahl who was called a "super--diagnostician" by the University of Wisconsin School of medicine, leads the Undiagnosed Diseases Program (UDP) at the NIH and essentially sees patients who lack a diagnosis after years of visits to other doctors. He describes a bunch of intriguing and mystifying cases and goes through the logic and teamwork required to solve them. He also brings to light an important problem as cures and drugs for people with rare diseases are often overlooked because of their unprofitably.

William Gahl, MD, PhD is the clinical director of the National Human Genome Research Institute at the US National Institutes of Health. He also studies very rare inborn errors of metabolism and recently encountered a disease so rare that he, essentially, discovered it. The media has often compared him to the fictional Dr. House, but where exactly do the similarities end? Dr. Gahl's work has been featured in CNN, Newsweek, People Magazine, The New York Times, and Nature. In 2011, Dr. Gahl received the American Medical Association' s highest honor, the Dr. Nathan Davis Award for Outstanding Government Service.
Thanks to Edison Pharma for taking a chance on Mito kids and producing EPI-743. I wish peer pressure worked in the pharma world and the FDA... kids are dying because it's not profitable to save them. That disgusts me.