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.
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.
Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel
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!
Sunday, November 14, 2010
Tuesday, October 5, 2010
Just heard that one of the websites for chronically ill kids that featured Josh back in 2006, MACS (Make A Child Smile), is expecting a big media event soon. They say we may expect a little more traffic looking at our kids' sites with the links to our page there. So, I thought I'd write up a little about what my son, Josh has and how it affects him.
Josh likes to think of himself as a normal boy. His mind is often on football, basketball, his friends, games or movies. He dreams of driving his own sports car one day. But whether he likes it or not, his rare medical condition always looms over him and limits him.
Everyone thought Josh was perfectly healthy and normal when he was younger.
His first problems were:
sweating more than normal - which he's done since he was a baby,
failing hearing screenings - as early as 3 years of age (they said the trouble was in the high frequencies and he can hear most normal speech just fine),
and a learning disability (discovered in 1st grade when he could not seem to grasp basic math and reading).
Otherwise, Josh was active, rarely sick and usually quite happy.
It wasn't until he was 8-and-a-half that we discovered there was something seriously wrong with him. He'd had a throat infection and finished a course of antibiotics. He would get up and go to school ok, but come home and fall asleep on the couch and not be able to wake back up and stay awake. He was missing out on playing with his friends, going to a favorite church function, and he wasn't eating much. This lasted a few days. I thought he was just still recovering from that throat infection. But after having a bath to try to wake him enough to finish his overdue homework, still wrapped in a bath towel, he collapsed in front of me.
I got him to his bed, realized he was very hot, took his temperature and found he had a fever of 103. I gave him motrin, got him dressed and took him to a minor emergency clinic - thinking he likely needed more antibiotics. Instead, the doctor found his blood oxygen level was very dangerously low (50 percent and it should be 97-100 percent). They called an ambulance that rushed him to the hospital. The next morning, he went into respiratory failure and had to be resuscitated 5 times before getting him onto a ventilator.
Doctors did not find the real cause of his problems until months later and another hospitalization. His diagnosis was a combination of a few things: central hypoventilation (a part of the brain causes the body not to ventilate properly).... because he did not have that particular problem from birth, they called it Late-Onset. But his body was not producing cortisol as it should either. An endocrinologist said he also had hypothalamic dysfunction.
You can see more about how we learned of Josh's disorder by watching the documentary produced for Discovery Channel and Discovery Health. "Life or Death : Battling to Breathe" aired in 2007. I have a taping of it here and on the bottom of my blog page.
The name of his disorder was changed in 2007.
What Josh has is now called ROHHAD (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation). There are now more than 50 people known to have this disorder in the world and most of them have different symptoms or at least different degrees of severity of the symptoms. Here's how it affects Josh:
His body does not produce growth hormone or testosterone so he must take those hormones by injections. Growth hormone he gets 6 nights a week in a tiny needle just under the skin (sub-q) of the back of his arm, testosterone once every four weeks (in a longer needle deep into the upper buttock area).
His metabolism is slowed down, so that he gains weight much more rapidly than others his age, despite diet changes and exercise. So, he sees an endocrinologist and a dietician frequently, uses fat free milk, sour cream, etc. and we make sure to add as much fiber and reduce the amount of sugar he takes in.
His body does not regulate temperature correctly. If he is in the cold, his body temperature goes down. It's been as low as 96 degrees. If it's hot out, he is also hotter than he should be - usually up to 100 or so with no infections present. So, we take his temperature several times every day to make sure it doesn't get too high or too low. He often has to take ibuprofin or cortef if his temp gets too high. If it gets too low, his hands will turn a scary shade of purple/blue and we have to use hand warmers or blankets, etc. to help warm him up.
His body does not regulate hydration properly. He will sweat often even if its cold, pee out way too much, and he never really feels thirsty when he should. This causes his sodium levels in his body to skyrocket which can be very dangerous/deadly. He takes a nosespray called DDAVP that helps him retain fluids to help prevent him from becoming overly dehydrated. We also encourage him to drink alot. He carries G2 (low sugar gatoraid) and diet green teas with him to school to help the nurse gauge how much he is drinking.
His body does not detect oxygen or carbon dioxide levels. He can physically breathe just fine, but never feels the sensation of suffocation that he should when his body gases are out of whack, so he doesn't realize he needs to breathe in and out bigger. Because this is an automatic thing your body is supposed to do and you can't just sit and think about breathing all the time, Josh needs a ventilator or some other device to force the bigger breaths. He was implanted last summer with diaphragmatic (breathing) pacemakers to help with that. He can use them when he is awake, but needs to be hooked up to a ventilator (respirator) when he sleeps, to give his body rest.
Josh takes a variety of medicines/supplements to help replace nutrients he looses when he sweats or pees out too much and to reduce stress on his body from all the weight and other issues going on inside of him. He takes a low dose steroid called cortef (hydrocort is the generic name), synthroid, potassium, calcium, magnesium, zinc, fish oil, acetyl l-carnitine, alpha lipoic acid as well as allergy meds.
To hook up to the ventilator, Joshua had surgery just before he turned 9 on his neck where he has a tracheostomy tube placed. That tube must be changed weekly or when it gets too plugged with mucus. And it must be suctioned out frequently to try and keep it nice and clear.
His breathing pacemaker has small wires running through his chest that can break easily, so he has to be careful not to get hit in his chest area too hard, as this could break the wires and cause his pacemakers to stop functioning - which would mean he'd have to hook back up to the ventilator all the time to breathe enough to be healthy.
Josh also has that high frequency hearing loss - which means he misses some sounds like "sh", "th", "sk", and "ch." He has hearing aids for both ears to help, though he doesn't feel the need to wear them, and we don't fight with him about that.
Josh requires somebody trained as a nurse, with experience using a ventilator and changing a trach, etc. to care for him basically 24 hours a day.
They need to know about diaphragmatic pacemakers (now) so they can help him with his. When we do not have a nurse on duty, I perform this task. And he'd like it to be 24 hours a day - but that is just not possible.
Josh contracted H1N1 swine flu January 2010 and developed double pneumonia.
His health since that time has not been as stable as it was before.
He had been able to balance everything pretty well and stay out of the hospital mostly. But he has been in the hospital a few times this year. And he has to take breathing treatments called IPV (Intrapulmonary percussive ventilator) now 3 time a day.
Our goal is to get and keep him as healthy as possible while helping him live as close to a normal lifestyle as possible.