OK, so here's the realllyyy.... LONG update!!

Well, I guess it’s time to sit down and write this all out, to explain it to everyone. Peanut has been diagnosed with ROHHAD. This stands for Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation, presenting in childhood. This was the syndrome that we have been looking into for a few months now, and somewhat expected them to give us this result. So while it wasn’t completely out of the blue, it’s not something that’s easy to hear.

What does this mean? In basic terms, Peanut’s body has no idea when it’s not breathing. She can look completely normal to everyone around her, but in fact her O2 saturations are at 80%. Normally, we are all around 95-100% for our saturations. In addition, she would often drop down to 50% sats. Now obviously, this is a bad thing. It also means that for several months, or year(s), she has not been getting a lot of oxygen many times.

She has been put back onto the ventilator 24/7 for right now. She’s maintaining oxygen sats anywhere from 95-100 pretty much all the time. Plus, she hasn’t needed to have actual oxygen pushed in as well. The vent is what helps her breath. It assists her in making sure she’s always breathing, plus it helps her take good, deep breaths. We found that she had atelectasis in her lungs. That has to do with the lack of enough oxygen getting into her lungs. There are small alveoli that don’t get filled with oxygen, so they can collapse. Hopefully, now that she has the vent, which helps her take these bigger, deeper breaths, this will resolve itself.

She also underwent about 3 different trach changes. They ended up using one that does have a cuff. But this isn’t inflated until she goes to sleep at night. This helps to prevent any air leaks. She can talk with the vent on still, although it’s a little bit harder. Plus, when she’s trying to talk, she’s actually putting opposing pressure on the vent. So the alarms on that go off all the time.

This is all the respiratory stuff! Then we have the autonomic dysfunctions, which we’re still learning more about. Plus the obvious weight issue. There isn’t anything that they can figure out on what to do with that. This entire syndrome is still unknown. They’re trying to figure it out, research it, and come up with what genetic code will show them when it’s present. But it all takes time. So, we still need to watch her diet, get her more exercise, and stay on top of all that.

They did test her neurocognitive as well. We weren’t really surprised when they told us that she’s in the above average range. She definitely tested at the top of kids with ROHHAD, as well as kids in general. We’ve always known that she’s smart though. She does struggle with certain tasks (i.e. starting a project, adapting to changes, or working with her peers), but those are things that can still be worked on. Plus, once she returns to school, we’ll be able to work these issues into her IEP (Individualized Education Plan). The doctors at CMH really want her to get back into school as soon as possible! They said as soon as she’s home, settled back in, and ready to go, she should get back into that environment.

Of course, we’ll be asked what the prognosis is and is there any cure. The answer is we don’t know, and no. The prognosis is something that we can’t say for sure. The good thing is that since she’s already ahead of the curve when it comes to her intelligence, and we’ve been diagnosed somewhat young, we can preserve all of that. But for cures, there’s nothing to “cure” it right now. It’s just using the tools that are already there to treat the various components of it. Like the vent for her breathing, dieting for the weight, etc… It’s not the best answer, but it’s all we’ve got for right now.

There are some positive things though. We live in the city where the experts are! There are only 2 places in the world that study and research ROHHAD, one is in France and the other is 10 miles from our house! So, we know just how lucky we are in that aspect. Most of the patients that make it there are from out of state, and some from out of the country. The other good thing is that we got in to see them and that she’s been diagnosed. Now we can manage her care and get her to live at the top of her game. Give her the best treatment we can. Plus, we’re willing to be very involved in the program at CMH. I haven’t mentioned this part yet, but Peanut became either patient number 53 or 54 that they know of with ROHHAD, and that’s in the world!! Soo… we’re dealing with something that is so far beyond rare it’s not even funny. But, that also means that we, as advocates, can have our voice heard as well.

Now, we’re back at LGH until probably next week. We’ll definitely have a lot of nursing care when we get back home. All of that is still being worked out though. She would love to have visitors, as long as you’re 18 and older. They’re not allowing anyone under the age of 18 on the floor now, cuz of the flu. So even her brother hasn’t seen her in a week. And she’s in isolation, but hopefully the tests they ran come back negative tomorrow. It’s just a precaution.

I think that’s it for now… I’m sure I’ll have more to add later. But this gives you the major points of it all! Keep in mind she was tested and monitored for 72 hours straight and hubby and I spent about 4-5 hours/day in offices with doctors. So there’s a lot to take in.