Rare Disease Day: Thanks Docs! From a Mom Parenting a Zebra

There's an old bit of advice given to doctors. If it has four legs and a mane, and you're not in Africa, it's probably a horse, not a zebra.

In other words, when diagnosing a patient, don't look for the rare diseases first, look for what is most common. And that makes sense.

But what happens when your child IS a zebra?

Today is Rare Disease Day, so in solidarity with other parents of rare disease kids, I offer up this ridiculously cute picture that sums up our world.

Photo of boy reading newspaper

Being the parent of a zebra means
a. lots of lab draws and appointments with specialist (in this photo he waits for yet another blood draw to test kidney levels)
and
b. (if you're a parent like me) lots and lots of research and reading whether it's
-- reaching out to the fifty other parents nation wide whose kid is like yours
or
--reading (and trying to comprehend) journal articles and college textbooks to learn the anatomy and medical language necessary to understand the lots of lab draws and appointments with specialists (see "a").


But don't feel sorry for us. The rewards are greater than the costs. I think that is ALSO summed up in the ridiculously cute picture above.

Happy Rare Disease Day. Thank you to all the doctors out there who are studying these rare cases. You're helping us find ways to make life as great as possible for kids like mine.

Don't be sorry _____ , because I'm not.

Did I tell you my son has hearing loss? Oh, right, I haven't been putting a ton of his medical stuff up here over the past year (mostly because lots of it is up in the air and has nothing to do with prematurity).

THIS post (click on link) has nothing to do with hearing loss, either, but it could. I could easily re-write this article to say "Don't be sorry my son is hard of hearing, because I'm not."

So for those of you who have kids with special needs -- be it blindness, deafness, need for AFOs, etc, how do you approach those needs or the people around you who make comments? How do you respond to the "I'm so sorry"s that you hear?

Out of the bubble - we caught RSV. But it isn't as bad when you're three.

My son got sick. He was so cranky that we went in after just a day or so of illness and found that he had an ear infection. After three days of antibiotics and several renal panels because he was acting just that weird, we went in for another check up at the doctor's office. She was concerned about his oxygen saturation and sent him in for overnight motoring at the hospital. I thought it'd be a quick stay.

That night he was put on oxygen. For two nights and the better part of his second day there he needed oxygen. On the third night he finally saturated normally so we were able to go home.

I knew we'd have to leave the bubble of isolation eventually, and I knew that with a micropreemie that came with risks. The first year of preschool is hard for any kid. My older kids were sick every other week at preschool. By comparison Jonathan's been doing pretty good. He had croup, a cold, and now RSV/an ear infection this school year, but that isn't too bad.

But this reminded me of a few important lessons for you micropreemie parents:
1. RSV is no small thing! If it can kick a three and a half year old former micropreemie hard enough to hospitalize them for four days, then your younger preemie could be hospitalized even longer.
2. Lungs are still developing in infants and toddlers. Keeping their lungs safe from illness and infection now is helping develop lung strength for the future.
3. Isolation IS hard, but there's an end to it. It's worth the investment.

Teal Pumpkin Project

I am a fan of the Teal Pumpkin Project, a way of helping North Americans branch out beyond the typical sugary treats for Halloween and offer small toys (rings, stickers, etc.) instead. It was established as a way to raise awareness about food allergies.

I have a relative with Celiac Disease. My husband rushed his best friend to the ER after accidentally introducing him to a tasty dessert made with tree nuts a few years back. I get how serious food allergies are. So I celebrate the Teal Pumpkin Project for what it is, but I must point something out.

For more information, visit http://www.foodallergy.org/home

THE TEAL PUMPKIN PROJECT IS FOR MORE THAN JUST FOOD ALLERGIES.

My son doesn't eat much by mouth. He's now old enough to care about trick or treating. We could keep him inside (and when I see the sniffling kids at overly crowded Halloween events, I'm tempted) but we instead drag him around to all the houses where he gets suckers and candy bars and gum balls... things he won't be able to eat for several years. The candy goes to his sisters and he gets, well, nothing.

THE TEAL PUMPKIN PROJECT HELPS "TUBIES."

"Tubies" is a nickname for people with feeding tubes. Cute (or ridiculous?) nickname aside, I know I'm not the only parent out there that will be looking at the Teal Pumpkin map to see if there are any homes that will have something besides food for my feeding tube child.

I'm not related to any child with diabetes mellitus, but I'm sure the same goes for these kids.

THE TEAL PUMPKIN PROJECT HELPS CHILDREN WITH DIABETES MELLITUS.

THANK YOU, Teal Pumpkin folks, for making the world a more welcoming place.

Who else benefits from this movement? Leave your comments/thoughts below.

A 23 weeker success story.

On a board somewhere a mom asked for 23 weeker success stories. For a bit I questioned what constituted "success" since there's no doubt that prematurity will impact my son in small ways for a long time, but then again, if three years ago I could have seen what I see now, I would have cried tears of joy. My son IS a success.

He is still medically complex. We've been chasing down genetic reasons for our son's kidney conditions. We've added a few more symptoms, treated those symptoms, ended up with electrolyte imbalances that have landed us in the ER and hospital (and first ambulance ride) and adjusted medicines again.

We're still working out what's going on, so I'll keep this brief, but it's such a relief (and so odd) that the thing that makes him medically complex is not a result of his severe prematurity.

To go down the list from head to toe:
PVL - that "life long disability" we talked about before -- mild, and last head scan showed ventricle size to be high end of normal instead of mildly enlarged. Doesn't seem to be holding him back much at all. We've now graduated from neurology and neurosurgery. They don't need to see us any more. Ever.
Retinopathy of prematurity - We've got a kid that's quite nearsighted, and becoming more nearsighted with every growth spurt. But his eyes still correct to 20/20 with glasses, so this isn't holding him back. He's at risk for eye issues down the road, but this just means we need to keep up with his eye appointments.
Chronic lung disease - a puff on an inhaler twice a day and occasional administration of albuterol and he's good to go. We see pulminology about once or twice a year tops.
Kidneys - this is the biggy. The list of things wrong with these organs is long, but all seems to stem from one genetic condition. Nephrocalcinosis, mild (and quickly disappearing) hydronephrosis, distal tubular acidosis, polyuria / polydypsia, and associated physical delays from a body that hasn't managed electrolyte imbalances well for three years... yep. This is the one we're still trying to figure out how to control. It's impacted eating (as he gets nauseated now from potassium and sodium levels being off -- and when he was younger it impacted his nursing as he was chronically tachypnic) and that impacts speech. There's a chance hearing has been compromised as well. We'll check that out next week. He's failure to thrive still and needs a g-tube to administer some (but not all) of his food.

And that's it. He walks, he runs, he talks, he has a fantastic sense of humor, and his small stature and glasses just gives him more "OOOOOH!!! He is SOOOO adorable! That kid is so cute!" everywhere we go. It's almost an involuntary response on the college campuses we frequent.

Yes, success. Yes, the long road was worth it. There was a light at the end of the tunnel.

You are enough.

A year ago I wrote these words on the comments section of a blog written by a mom who has gone before me with her own premature son. She re-posted them in this post and I re-found them while surfing the web this evening. I found it to be such a treasure that I thought I'd share.

Folks, we are all enough. Whatever or wherever you are, it is, simply, enough.

---------------------------

I worked with non-verbal, non-ambulatory adults before having my second trimester baby. They kindly taught me that I was an intellectual snob. If you'd asked me, "Do you think all people have value?" I would have said yes. But secretly, in that part of me I wasn't even aware existed, my actions showed that I believe people had to be smart enough, bright enough, fast enough, good enough. They had to have something that they were best at, and I was constantly measuring myself to see if I was "enough" of anything.

My adult special needs clients quickly became friends. And they weren't fast enough, smart enough, etc. enough at anything. But yet they were enough.

Now when people in my very brainy world (full of philosophers and academics) talk about what it is to be human, I think of these friends. If their definition does not include my friends, it is a false definition, because in so many ways these friends taught me how to be human better than my lofty education ever could.

I know that sounds ideal and romanticized, but the lessons I learned from them were ones that no textbook could have taught me.

The lessons I learned from them were the ones that allowed us to, without hesitating, say "yes, resuscitate our son, because if he can live - even if it's as a non-verbal and non-ambulatory person, if he can even have a chance at life, it is worth it."

And it has been so worth it.

Nominate your NICU hero

Do you know a NICU Hero? Did you ever get a chance to thank that special person?

Hand to Hold and Mead Johnson Nutrition are accepting nominations from April 1 to May 14, 2015, to the Third Annual NICU Heroes Awards. They are inviting parents and caregivers to nominate NICU health care professionals whose compassionate care and dedication helped lessen the emotional toll of a NICU stay and ensured the best outcome for their baby and family. 

There really are so many NICU and bereaved families receive care from neonatal staff who goes above and beyond what is required.

Nominating is easy. Fill out a short form with contact information, your story, hospital name and the name and email of the NICU professional you'd like to nominate. That’s it!  

Nominations will be from April 1 to May 14, 2015 at 5pm CT. All nominees will receive a Certificate of Nomination in recognition of their achievement and a copy of the story you share about the difference they made for your child/ren and family. It's a wonderful way to share your appreciation for their efforts when words hardly seem enough.

A panel of judges, composed of NICU parents and active NICU professionals, will judge the awards and decide on two winners. The two NICU Heroes Award Winners will receive the following:

·  A  a NICU Hero Award certificate and trophy, presented at the winner’s hospital,

·  A $2,500 donation made in their honor to the pediatric healthcare charity of their choice*, and

·  A one-year subscription to the Hand to Hold NICU Resource Library for the winner’s hospital to help educate families new to the NICU

*Some limitations apply