Sunday, November 14, 2010

Hunting, Halloween, Special Olympics and Medical Articles to share

When Josh was diagnosed with his disorder (now known as ROHHAD), we heard there were only about 23 known in the world. On Facebook, a group of us moms has found one another and we've discovered that the number of cases of ROHHAD around the world has probably tripled since that awful day (for us) back in 2005.

Sept 2005

There still is no known cause of ROHHAD, though the doctors looking into it have some theories that range from a genetic mutation, or an auto-immunity to a seizure disorder. And there is no known cure yet.

There are a few articles being published in relation to ROHHAD and CCHS (which seems partially related due to the central hypoventilation portion of the disorder). One little girl whose mom we talk to on facebook is the subject of one of the articles. Another article is about a very promising possible treatment for the hypoventilation - something doctors came across purely by accident. Below are some titles and links to those articles, in case you'd like to keep up with it.

Short communication
Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel

Pediatric Pulmonology 43:1036 – 1039 (2008)

Case Report: A Novel Missense Mutation in the PHOX2B Gene Is Associated With Late OnsetCentral Hypoventilation Syndrome

Cyclophosphomide for Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome

Meanwhile, Josh is doing pretty well right now.

Fall 2010 School Photo

In October, he got to go out bird hunting with his dad. It was a beautiful day, and they had fun even though they didn't bring down any birds. Oh well.

And when we accompanied my sister when she was looking for a car to buy, Josh found his dream car. He got to sit in it, but didn't get to drive it off the lot, too bad! :)

October 22nd, we celebrated one of Josh's nurse's birthday by going to a Mexican food restaurant where not only can you get the biggest mountain of nachos you've ever seen, but you can also get your face painted. Josh got his painted with a dragon. Check it out:

We had a nice Halloween - dressed as a vampire (see our pics below). He started the evening sitting on our front porch with a bowl of candy and pretzels, and handed it out to the trick-or-treaters that came up.

Then, we drove over to our church for the fall festival. I got a few pictures of us that were taken at Fall Fest, and I'll share them below, too.

For the third year now, Josh participated in Special Olympics bowling Nov 9th. He was a great sport and came in third place, accepting a bronze medal. His scores were a 70 on the first game and a 94 on the second. He even bowled a strike once and came close to sparing out a very difficult split.

The latest medical updates on Josh are that he is now 5 foot 5 and a half inches tall and weighs 211 pounds. He is doing great with his diaphragm pacers. Here he is back Oct 22nd doing a pulmonary function test at his pulmonologist's office.

He will take one more testosterone injection on Nov 19th, then have 6 weeks off so he can have his blood drawn to check all his levels.

And I think Josh started coming down with a sinus infection, so I took him to his pediatrician Friday afternoon, who checked him for strep throat. That came back negative, so the doctor prescribed Augmentin for him. I think it is already helping.

Josh got his flu and pneumonia vaccines already, so he should be good there.

We have no more doctor visits scheduled until after the holidays (well except for blood work just before new year's eve).

Steffany (who turned 19 October 21st) and family are doing well, too. I've got a few recent pictures to share of them that are just precious!

Happy Holidays everyone!

Discovery Documentary - Life or Death : Battling to Breathe