Blog · January 26, 2017


Please keep Nicky in your prayers… I am a little frazzled this week but I hope I can explain myself better than my mental state wants to allow.

One of the nasty side effects of RDEB is that the scarring does not only appear on the outside of the body, but also in mucosal surfaces, such as the eyes, mouth, throat and esophagus.

When Nicky was only a wee bit lad (I am watching too much British/Scottish period drama, I am starting to speak like them!), I noticed that swallowing was particularly difficult. So difficult, in fact that it would take him a few hours to finish a bottle. By the time he was 3 years old, I needed to put a towel over his pillow because overnight he would soak it with his own saliva.

Solid foods, or even mushy/baby foods had become an impossibility from the time he threw up blood and skin from his throat when he was 12 months old. He refused anything that wasn’t liquid from that point on. Pediasure became essential at this point, or even just calorie-rich formula.

The problem with this is that his growth was stunted. By the time he was 3.5 years old he was still wearing 18 month old clothing and weighed on 3lb more than he did at 9 months. He had also stopped growing in height, and went from 75% to 25% in head circumference just within a year. He needed help, and badly.

So, in March 2000, when Nicky was 3.5 years old, I took him to Lucile Packard’s Children Hospital at Stanford to not only put a g-tube on him, but to also have a throat dilatation with the Doctor that created this procedure to help RDEB patients. This is the photo, above, of Nicky pre-op with his favorite plush toys <3

The success was remarkable. By June Nicky had gained 10lb and looked really healthy weight-wise all things considered. The g-tube was a life-saver and til this day I credit it for keeping Nicky alive.

Even though Nicky does not rely on his ability to swallow for nutrition, he still enjoys eating what he can eat. Which isn’t much. Ice-cream, milk and the like are okay, on occasion he likes to try cheetos, cheese, cookies, chocolates, meringues or taste mamma’s soup but that’s about it. For the past 17 years my main concern with his throat has been to just make sure he can swallow without trouble and anytime he needed this particular procedure done at Stanford we’ve been able to get it done aside a particular delay that happened in 2004 where Nicky had to wait a year to have it done. I wrote about it in my book Butterfly Child if anyone is interested in reading that particular health-care horror story involving Doctors that do not listen to parents.

Doctors… LISTEN TO PARENTS!!! I may not know much, but I am an expert in my child’s needs, and you can bet on that.

Over this past weekend Nicky’s throat took a turn for the worse. Nicky hates to have this procedure done, but he knows he needs it, so he waits until he knows he REALLY needs it before requesting the referral. Unfortunately, this time it went from OK to barely being able to swallow his own saliva within 48 hours. Immediately I was on the phone summoning the troops to come to his aid.

But… there is a snag. The troops have changed, and now I have to re-educate everyone. Fabulous.

Because now he’s over 18, he had to change PCP, going from his Pediatrician to an Adult Doctor, which I didn’t think was going to be a hurdle, since they both work out of the same office. However, when I called, I was given the runaround. I left a message here and there and nobody was calling me back. Not really a surprise. It took me 2 days to get a hold of someone that I could speak to, and she told me to go to the local ER! I laughed out loud.
“You don’t understand” I told her, “The ER can’t do anything. There is only one place in the whole state that does this procedure, and that’s Stanford”.
“The last time they told me to have it done locally and sent me to CHLA, the Doctor we saw there told me I needed to go to Stanford. I am not going to let all this time pass or send us around, he needs this done ASAP at Stanford”. I then told her how rare RDEB was… “There are only maybe 300 cases of this condition in the whole country, and the only place in California is Stanford.”

Over the past 20 years I’ve been really good at pleading Nicky’s case, and if I have to summon the waterworks or employ the words “death” in my sentences, so be it. Nicky needs everything I can do to make him feel better. He’s in so much pain as it is. It’s not as if I am lying or exaggerating anyway. Might as well tell the truth.

After putting me on hold a few times, she said to bring Nicky in so they can start the referrals. She had taken a look at Nicky’s paperwork and, yes, she surmised, he does go to Stanford.

Well. Duh.

We went in yesterday evening and let’s just say I went in with the intent of appearing distraught because I wanted to yell at everyone instead. It was hard to refrain from saying what I wanted to say. But everyone in the end was so nice I could not say a mean word even if I had been in that kind of a mood.

I surprise myself at the kind of person I’ve become. I literally explode when people treat my son with any degree of disrespect because he does not deserve it. He’s the sweetest boy, ever. The only thing I rolled my eyes over was when the Doctor said something about being difficult to put through a referral to Stanford because it was “out of network”. “No shit” I told myself, but I was nice and told her “Oh… I know… I know… I know…”. However, since Nicky threw up phlegm right in front of her and could not speak because his mouth hurt so bad, she told me she would do her best. Fingers crossed.

Empathy, people, empathy. This child in pain is sitting right in front of you. Let’s hope she got the message loud and clear.

As I often tell people, if you’re going to have a special need child, hope for one with a common condition. Rare disorders fall through the cracks constantly because nobody knows what to do and Doctors are often unwilling to listen to the experts=the parents.

Getting the referral is only part of the problem, however. The Doctor that did this procedure since Nicky was 3.5 is now retired. The referral has to be put onto his protege’ instead. That shouldn’t be a problem, except, it is. This Doctor has refused to do adults and there is no GI Doctor that does this procedure for adults! See the issue we’re running over when a child with a rare condition, a condition where most children never make it to adulthood become over 18? You see why I am frazzled? I try to keep positive and see what happens, maybe this Doctor is now accepting RDEB patients of any age. We shall see.

But in the case he’s not, I am not quitting. Never. If I have to “show up” at Stanford’s Emergency Room (a 6 hour drive, mind you), I will. If I have to call and plead my case to the Senator, Governor or local Representative, I will. Heck, I know a local reporter, I can give her a call. Let’s just say that they are messing with the wrong mom. And if my fight serves to pave the way for future EB patients and not only Nicky, then I would be thrilled.

How does that saying about Hope goes?

Hope is like a road in the country; there was never a road, but when many people walk on it, the road comes into existence. ~Lin Yutang Follow

I want to be that Hope for my son.

Love & Light,