ROHHAD and My Son, Josh & my clinical update

My son, Josh (you see him standing beside me in the picture below) is one of a very few people in the entire world diagnosed with a syndrome called ROHHAD.

My son Josh and me on Mother's Day 2013

What causes ROHHAD is still unknown. There is no specific test to take to prove a person has it.  It is diagnosed by ruling out all other known causes of the symptoms.

Here is a list of some ROHHAD symptoms:

1. sudden weight gain regardless of food intake or exercise
2. unable to feel shortness of breath when oxygen is low or carbon dioxide is high in blood
3. failure to produce hormones that make you grow or develop in puberty
4.  inability to regulate body temperature or hydration

for a full list of symptoms that have been described, visit http://en.wikipedia.org/wiki/ROHHAD#Symptoms

Many parents like me who have children diagnosed with ROHHAD stay in contact via Facebook.. where we compare our kids' symptoms, progress and treatments.  We give each other encouragement and search for answers for our kids.
 
Below are some videos made by a few of the families of ROHHAD chilren to share their stories.

  This March, we got an opportunity to meet in person with the family of a child diagnosed with ROHHAD.

Josh Wooten, 16 with Antonio Laguna, 6 both have ROHHAD

  Antonio and his family came to our home, along with a TV news crew who filed this report:

12 News KBMT and K-JAC. News, Weather and Sports for SE Texas
Killeen Boy With Rare Medical Condition Meets Child With Same Sy - 12 News KBMT and K-JAC. News, Weather and Sports for SE Texas

While most of the children with this disorder are able to be managed at home most of the time, some are in and out of the hospital frequently.  One, 9 year old Kira in Chicago spent months in the hospital because of her deteriorating condition.  And, unfortunately, we got news last week of her death.

9 year old Kira with her father

Chicago Tribune article: Girl, 9, dies after battle with rare debilitating disease

Kira Mammoser Obituary

As I read the many accounts Kira's mother wrote about her daughter's battle with ROHHAD symptoms over the years, I recognized they were very similar to my son's  only at a younger age. Joshua's symptoms, especially his obesity and hypoventilation (not sensing he needed to breathe) came on when he was 8 and a half.  I even suggested to Kira's mother she may benefit from getting phrenic nerve pacers like Josh has.  I envisioned her quality of life improving so much if she could experience freedom from the ventilator that kept her alive.  She had the surgery, and was only able to try out the pacers briefly.  Her multitude of symptoms just kept getting worse and worse.  And upon hearing of her passing, it really struck me on a personal level and I grieved the hopes I had for Kira of a bright and happy future.  My condolences go out  to her family.

Meanwhile, my search continues into the cause of my son's medical issues and ways to deal with the many symptoms to prevent them from overcoming him.

Below are links to some published studies related to Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome):

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.

Monozygotic twins discordant for ROHHAD phenotype.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature.

Intrathecal Synthesis of Oligoclonal Bands in Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome: New Evidence Supporting Immunological Pathogenesis.

Oxidative Stress in the Hypothalamus: the Importance of Calcium Signaling and Mitochondrial ROS in Body Weight Regulation.


There are many, many more articles associated with the symptoms of ROHHAD and the area of the brain that seems to control those functions.

If you missed it.... I now have the Discovery Channel Documentary in it's entirety on YouTube.  Here it is:




I am also finishing up the last couple of months of respiratory school.  I decided I wanted to use what I've been learning by taking care of Josh with his equipment and symptoms to help other people and to help earn money for our family's needs.

I still don't know for sure where I want to work once I finish school.  I am considering beginning at a big teaching hospital where I could work in any number of areas... with babies, children, adults, in intensive care or with pulmonary function testing, home care, transport, in public education or some other sub-specialty I haven't even realized yet.

I had a wonderful time at my last clinical location.  I got the opportunity to shadow a critical care doctor who is also a pulmonologist with a pulmonary function lab and specializes in sleep medicine.  He is also the Chief Medical Officer for the Emergency Management Division of the Baptist Children and Family Services.  He shared with us his missions he has gone on to treat victims in Haiti following their devastating earthquake a few years ago.  Below is a video of a local TV talk show from the time of the Haiti trip where they visited with this doctor about the mission:

Busy, Busy, Busy

My, how time flies when you get busy.  And this semester of Respiratory school has been BUSY!

On Mondays and Fridays, we go to clinical rotations.  We go to several different local hospitals where we work and learn in Pediatric Intensive Care Units, Neonatal Intensive Care Units, Adult Intensive Care Units, Cardiac Catheter Labs, Pulmonary Function Testing Clinics, Hyperbaric Units and much more.

Most clinical rotations are two days at the same location. Usually a Friday then the following Monday, beginning about 6:45AM and running through 2:45PM.

this picture is one I found online but shows some of what we do

We are doing in-depth studies, called SOAPs (Subjective Objective Assessment and Plan), on a patient almost every clinical day. Those studies include lab tests, physical examinations, x-ray interpretation interpretation, medication studies, name every part of the care provided to the patient and find and name anything that indicates a need for a change in plan and state why.  It takes hours and hours sometimes to complete (oh and it must be typed up and emailed in, so much of the work is done after we get home from clinicals).  It is intense but certainly educational. It's like doing a major research paper two times per week.

This summer, those clinical rotations will be 3 days a week, so we'll be doing even more of those big reports.

St Philips College

 
Tuesdays and Wednesdays we are on campus for respiratory classes that include computer simulations and working on a mannikin as our patient with ventilators, and various other respiratory devices.

Thursdays, most of us second year respiratory program students are taking Microbiology lecture and lab - pretty much an all day thing.  We are going over all sorts of microbes - those that are helpful and those that can kill you if given the opportunity.

It's April now, and my last day of respiratory school is August 1st!!!!  Then, I study to take 3 big exams to receive my certification and registration (licenses).  Then, I should be ready to get to work and make some money!!!  finally!!!


Luckily, Josh's health has been pretty stable.  But he's been busy, too.  He is in high school now.

And he is staying pretty active with church.  He goes to the weekly church youth group  get-togethers where they do things like go bowling, skating, mini-golfing and much more.

 

Josh on youth outing to the bowling center

youth group with Easter eggs at church

Josh on skates at youth group outing

  They also do several fundraisers to raise money for camp. Josh has helped put on a Valentine's banquet and has helped with yard work to raise money.

Josh does yard work 

church youth group car wash fundraiser for camp

Josh drying vehicles at the youth car wash fundraiser

Josh with his Nurse Brad on a youth group outing

Josh with his Nurse Nancy at church Valentine banquet

He usually has a nurse who goes with him to these outings.

But one weekend (Easter weekend) I was the acting nurse on duty and the youth was planning to attend a big Christian concert at the AT&T Center.  So, I ended up going with him and hanging all day and into the night to enjoy the concert.





We stood outside, waiting for the doors to open, for several hours.  Josh got pretty tired.  He did find a chance or two to sit down and rest his feet.

We were hot, tired and crammed like sardines with all those people around us ... especially behind us!











  but we ended up with seats down on the floor pretty near a back stage where a couple of bands played for us and a speaker came back there to talk to the crowd.

 It was a sold out concert... look at all those people!
The bands included New Song, Matthew West, Jamie Grace and Toby Mac.

 

We had a good time but our ears took awhile to adjust again once we left - and we left early, before the last band, Toby Mac, had really gotten started good.


James took some time off around Good Friday and Easter weekend, so we all enjoyed some time fishing that weekend, too. We thought of trying our luck at Canyon Lake, North of San Antonio, but the water level was extremely low, and there was really no place to fish from the shore (which is what we planned to do).  So, we headed up to Blanco to the State Park there and found some nice places to enjoy some fishing.
 

OK, we didn't catch any huge fish, but we did enjoy the beautiful weather and had a pretty good time.
 
Oh, we even took my mom along for that trip.  She loves to fish and to spend time with us.


And Josh found some swings to try out at the park, too.

Busy Summer

biCan't believe it has been over three months since I last updated my blog. If you look back, I used to update it every few days.  It's not that I don't have plenty of interesting things going on to share, but I guess I'm just too busy to take a few minutes more often to write them down here.  For that, I apologize.  So, time to get you all caught up.

In May 2012...

Clinicals had just wrapped up... and we were preparing for final exam week... followed by about three weeks off of school.... but Josh was still in school til June.

Me in my scrubs

 My mom had been having trouble with the air conditioner in her car, so my sister sold it for her and my mom and I picked her out a new (used) car.  She really liked it alot.

My mom in her new (used) car

but just 8 days later (days before Mother's Day)... some city workers didn't notice my mom turning onto a street, and they slammed right into her driver's side!  My mom was very blessed, though, that she was not injured.

The city of Schertz workers in that white truck hit my mom's new car on the driver's side

nobody could get the driver's side door to open, so my mom had to climb out the passenger's side

 Early the next week, we were able to get my mom into a rental car while the city and their insurance folks worked on getting my mom's car repaired.  But that took well over a month!



Josh participated in Special Olympics Track and Field and got two gold medals!

 James helped put on his company's Truck Rodeo.. Josh, Steff, Logan and I stopped off after church that day to have lunch with them.  (we didn't take any pictures of the event this year)


Josh and the youth at our church raised money for camp by holding fundraisers like this car wash.

Workin' at the Car Wash!

Josh got bit by mosquitoes one night, and decided to put some cream on the bites.  We bought something called blue star ointment.  Minutes later, we discovered Josh is highly allergic to something in that ointment.

Learned the hard way Josh is allergic to this stuff

that ointment caused big whelps all over his arms and legs

ouch! big, feverish whelps!

James decided he needed a project around the house, so he put in a beautiful tile back splash in the kitchen.

 

 And of course, we spent time (usually on the weekends) with my grandson, Logan (who is 2 and a half now)

Josh and Logan

We even took Logan, along with my Mom and Amanda to the Austin zoo for a visit.

In June 2012......

As I started back for summer classes, Josh got a break from school.... and he went with his nurses on the beginning of his summer vacation trips..... first to Callendar Lake in East Texas

Nurse Francisco "Cisco" Ramos and Josh

Josh and his group of nurses, Shirley, Francisco and Nancy

"Pump my gas, Josh"

And Josh got some driving lessons.... he did pretty good, too!

Shirley's uncle, Chris and Josh

Nurse Shirley and Josh

Josh and his nurses next traveled to Corpus Christi, and while there, they visited a beauty school. Josh wanted his hair spiked and to have some blue put in the tips (like he'd had done before - with a little hair gel that barely showed up in his dark hair).  Well, they didn't quite understand what he meant, and they had run out of blue hair dye.  He looked so disappointed, they told him they did have some other colors.  So, he picked out his second favorite color - red.  And boy, did he get his hair dyed red!!!  Check it out:

After the hair dye job, Josh and buddies went and hung out on the beach and sight seeing... so much summer fun~!

For father's day, we decided to take my dad's cremated remains and spread them at a place that was very close to his heart, Lake Corpus Christi.

My dad's final resting place - Lake Corpus Christi, TX

Josh and me after spreading my dad's ashes

My mom and Josh at Lake Corpus Christi

My sister, Amanda at Lake Corpus Christi

We also decided to have some fun in Corpus over father's day weekend..  We found that the Circus was in town, and my mom, sister and I decided to go see it.

Here is a video someone else took from the same circus when it traveled to Miami... looked alot like this, though in Corpus:

And if we're near water, you know we're gonna try our luck at fishing....

James and I marked our 18th wedding anniversary in June.

And my mom, Josh and I participated in our church's Vacation Bible School.

In July 2012.....

I spent most of the month taking my summer classes, even started an online health course to ensure I was taking a full load (to qualify for my financial aid)... but we had visitors and lots of activity at home, too.

My Uncle Donny, Aunt Mardi and cousin, Chelsea came to visit for July 4th week.

We watched fireworks in New Braunfels



 then we went back when the park wasn't quite so busy... to take the kids for a ride on the train

We visited a mission in San Antonio... very beautiful     

 

Chelsea, Josh and Nurse Brad went with the youth from our church to watch a Missions baseball game

Chelsea, Josh and his nurses went to church youth camp at Alto Frio... it was Josh's first time to get to go to church camp... and he was so very excited!

We had an addition to the family, so to speak.... a kitten showed up on our doorstep and stuck around... James was playing with it and somebody asked him "What did you name him?" and he replied "not mine"... We all said that was a sad name for a cat :)  We're still trying to agree on his name... but anyway, he is a cutie

The grandson of the couple I used to take care of got married this month, and the family asked me to come help take the couple to the wedding.  I did and took this picture of the family all together following the service

In August 2012....

I wrapped up my summer classes and we went on an actual family vacation.... to the Tyler, TX area.
We stayed with friends and nurses.  Here we are wearing our party hats for game night.

 James and I slept in a borrowed motor home.  It was really nice!

 

 We did some fishing... of course we took the nurses out with us, so they could watch over Josh's medical needs.

and the guys even got to go out with a local fishing guide who also happens to be a reporter for a local paper called the Frankston Citizen.  The guide/reporter's name is Jim Beggerly. He said he was going to write a story on Josh for their paper. It should be coming out later this week.  Anyway, he took the guys out to catch some catfish at Lake Palestine.

We also visited a freshwater fish hatchery in Athens, TX.... very cool.

In Tyler, we went to the Caldwell Zoo.....

the Rose Garden....

The America Freedom Museum....

and Tyler State Park..

and we are now less than a week away from the start of our fall semester in school for both Josh and me.  This is the beginning of my second and final year of respiratory school!!