Monday, September 7, 2009

New Sonogram Pictures of Grandbaby & Josh birthday party plans plus ROHHAD recap

Steffany & Baby

I picked up the sonogram pictures my daughter, Steffany had at her last appointment. She is about 21 weeks along here, which is a little early to be sure of the sex of the baby, but they do point out "it looks like a boy".... check out the pictures below:

Steffany and the baby are reportedly in good health so that is great news!

Joshua & Pacers

Meanwhile, Joshua is doing well but still has to wait awhile longer before we get to start up those breathing pacemakers. His lung doctor wants to get a face to face meeting with the makers of the pacers to make sure he (and his staff) are ready to oversee us with them. He promises it will be soon and we can't wait!

Joshua's birthday (SEPTEMBER 19th) is coming up soon and we are looking at probably having his party at the park like we did last year. We just hope this time there is no car wreck (remember last year, my sister, her boyfriend Nick and Steffany were involved in an accident on their way to deliver the birthday cake. Luckily none of them was badly hurt.)


This year, Joshua really wants an IPOD.

The one he's heard about is the Touch. But it is super duper expensive, so he's been saving up his money and gift cards in hopes that he can afford one. I'd rather he pick something cheaper. I'd hate for him to save all that money and then have the thing break on him or lose it. I'll bet I can talk him into a cheaper gadget that does most of the same stuff. And as long as he gets to play some sports with his buddies, he will have a terrific time at his party. He is such a good sport!

I realize there are some folks new to us who come across us and do not know about Joshua's medical problems, so I'd like to take a few moments and explain a bit about ROHHAD.

Joshua was about as healthy and normal as a kid could be from birth up to around 8 and a half years old, when he suddenly without explanation became very tired (lethargic) and his fever shot up.

I took him to a minor emergency clinic where a doctor discovered his blood oxygen level was half what it should be. The doctor put him on oxygen and rushed him by ambulance to a hospital, where he was admitted and ended up in the pediatric intensive care unit. Hours after being admitted, Joshua went into respiratory arrest and had to be revived 5 times then hooked to a ventilator with a hose/tube down his mouth and throat.

Numerous tests failed to show what caused the near fatal incident. But during the time in ICU, Joshua also experienced paralysis of his left arm and leg, then a seizure. Powerful steroids (IV IG) was used to get Joshua strong enough to come off the ventilator and regain his sensations in his left side. He was released with only outpatient therapies. But a few months later, Joshua's blood oxygen level started dropping again and he was re-admitted to another hospital. Again, he had to be put on a ventilator and tests done. And again, tests did not show what caused the problem.

Josh stayed in the hospital with a tube in his mouth down his throat for weeks so he could be properly ventilated while doctors searched for the cause of his troubles. Finally, after the doctors reached out online for help from anyone worldwide, they had a response. A doctor in Chicago had seen a similar case and helped make a diagnosis. It was called Late-Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction. There was no known cause for it and thus no known cure.

But it appeared Joshua would need to have some help with ventilation for likely the rest of his life. So, the doctors asked us to consider having a tracheostomy tube surgically placed in his neck so he could hook to a ventilator without having to have a tube through his mouth. That way, he could eat, drink, talk and move around better. Joshua underwent surgery to place the "trach" tube three days before his 9th birthday, September 16th, 2005. He remained in the hospital a couple more weeks, healing from his surgery and giving us time to become educated about caring for him with a trach and being on a ventilator.

At this time, his doctors thought he really only needed to be ventilated when he slept or got really sick. So, he spent the days unhooked, but with his ventilator very near by just in case. And then at night, we would carry up his ventilator to be at his bedside and hook him up at bedtime. And Joshua's doctor wanted him to have a specially trained nurse to be at his side for him to go to school, since we who had training to care for him would not be with him there. So, he was homebound for a couple of months until the school could hire and specially train a nurse for him.

We thought back then that the doctor who helped diagnose him in Chicago would get us in to see her in a short time and see if he would be a candidate to recieve special breathing pacemakers. Our doctor here read up on them and was very hopeful they would be the solution to our problem. And the doctor in Chicago had recommended them for some of her patients and worked with them afterwards. So, we waited to get in to see her. That wait was an entire year! But finally, we got word of an appointment date, and we were so excited!

Since I had not been able to work a normal job since Josh was hospitalized the 2nd time, our finances were really poor. But I was determined to get Josh in to see the doctor in Chicago somehow. I found a program through Southwest Airlines to get our travel arranged, and we got there. It was a long and grueling week of testing, but we were so pumped. We just knew it would end with Josh getting his pacemakers and he could be free of his trach and ventilator in a matter of a few short months. But that was not to be.

The doctor never mentioned pacemakers that whole week. And when I finally asked her, "well, is Joshua a candidate for the pacemakers? When do we find out about them?" She looked at me like I was crazy. She had no intention of pacemakers for Josh - at least not in the near future. She was only confirming his diagnosis and checking to make sure his ventilator was working properly for him. We were devastated. And we couldn't understand how there could be that big a miscommunication between doctors.

Back home, our doctor here was excited to hear about our visit. She too thought we'd be coming back with great news of pacemakers. And she was very disappointed that they were not even being looked at as an option. One main thing that came from our time in Chicago is that Joshua was now expected to be on his ventilator pretty much 24 hours a day! He really was not breathing big enough breaths ever on his own to keep his oxygen levels up and get rid of enough carbon dioxide (CO2). So, now we had 2 ventilators - one for bedside and one to carry around with us everywhere we went.

I was at a loss for how we were going to have Josh carry around a heavy ventilator all the time - especially if he had to go to the bathroom all of a sudden or something. So, I searched for a buggy or cart of somekind that was designed to hold up a ventilator - and found NOTHING. So, I ended up having to fashion one for him myself. That was fun. We had to make sure there was enough weight at the right places to keep the cart from falling over. And we had to have plug ins for the ventilator and other monitors he'd need, and places to put all his medical supplies. We've gone through two different styles of carts now and our current one is pretty good but is sure a catch-all for Joshua's junk. He likes to put a deck of cards in, and his pencils, pens, highlighters, hearing aids, sunglasses, and pretty much anything he might have in his hands when he's wanting to walk out the door. Keeping all that stuff from falling out is the trick now.

But we did actually FINALLY find a doctor who would consider the breathing pacemakers for Joshua. This doctor was in Houston - much closer to us. But first, Josh had to undergo lots more testing by all that doctor's colleagues. They wanted to make sure there wasn't some other diagnosis we might be missing - something that could be fixed another way.

That took several more months. But I figured it would be worth it if they found they could fix his problems some other way. They finally decided they had no better answers and got him scheduled for the surgery for diaphragmatic pacemakers in June 2009.

He is finally healed up and ready to start using the pacers but Joshua's new lung doctor here has never had patients with these devices and he's a bit nervous about being in charge of them. So, we're waiting on him to prepare himself and his staff.

Oh, I forgot to mention that the doctor who saw Josh way back in 2006 in Chicago, used his information along with a few others to get an article published about his disorder. In it, she and another doctor changed the name of the disorder to ROHHAD (Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood).

The disorder involves more than just the shallow breathing and not sensing the problem. It also caused Josh to stop producing growth hormones. So I give him nightly injections of human growth hormones. He gets one night off a week. He also sweats heavily at times and gets dehydrated terribly easily without explanation. He takes DDAVP for that. It is in the form of a nose spray. It causes him to retain fluids. And his body does not regulate temperature as it should. So, we have to be careful about him getting too hot or too cold. I don't know if it's directly related or was caused by brain damage when he wasn't getting enough oxygen, but Joshua also has a pretty serious learning delay and a high frequency hearing loss in both ears. I have learned to give Joshua certain vitamin supplements and lots of fluids to try and help keep him balanced and hopefully improve his memory and brain function.

So, that's it in a nutshell - everything you wanted to know about Josh and his ROHHAD disorder. Oh, and he was featured in that hour-long documentary that aired on Discovery Channel and Discovery Health. That is at the bottom of my page here, if you want to go back and watch it.

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Discovery Documentary - Life or Death : Battling to Breathe