Sadie at FIVE

Since you turned five years old a week ago, I’ve been annoying you by asking the same question over and over.

“Hey Sadie,” I’ll start, and your eyes will begin to glaze over, knowing what’s coming.

“What’s it like to be five?” I’ll say and you’ll look exasperated and give me the same reason as always.

“I don’t know, Auntie! It just feels good.”

Oh, kid. You kill me.

From the moment I watched you take your first breath and felt your warm and reassuring heartbeat on my hand as I lay it on your chest, you’ve had me. Not even a week after your birth, I had to get on a plane to Colorado to run a previously planned half marathon relay. I know today, if I told you that, you’d look at me like I was crazy. Auntie? Running? Was the world ending? Nope, bud. But in a way, my world was ending, a bit. I would go from running to paralysis to ICU rooms and then finally to the NIH, all in the next five years. So my world was beginning to change in the scariest ways, but I had a new buddy along for the ride.

Sometimes I frustrate your mom because I’m a cranky old lady who, like your sister, is a bit of an aggressor when it comes to getting what I want. So I’ll text your mother “VIDEO”; no please, barely a thank you, just a desperate call into my dope niece void. I’ll be in the hospital missing you guys so bad, it makes everything else hurt more. But then you’ll appear on my screen, cuddling Adelaide, singing me songs, making up Auntie dances, wrapping me in a thick cotton blankie of love. You’re always there.

The last time I wrote you a letter like this you were 3 and now you’re 5, and your world is opening in ways you haven’t even begun to imagine. You can swim now, and you’re so proud of yourself, and I am too. You can ride your Big Wheel ahead of me while I push Adelaide on the bike and I feel so lucky to watch the back of your head zoom away. You’re overcoming some big fears and doing it like a big kid. You tell me to stop spoiling you. You tell me you have enough toys. You tell me we should donate some of my books and your toys to poor people. You are incredibly empathetic.

And sometimes you break my heart. Because you worry about me. You know it’s not normal, all the time I spend in what you call the NIH: the superhero hospital. You say things that cut me deep; last week you said you prayed I would be alive forever and that I wouldn’t die soon. No one has ever used those words around you; we keep you protected, but you get it. Maybe what you don’t know, at this young age, is that your love is a force like I’ve never know. Your love pushes me out of bed. Your love makes me silly with your friends because I know you love when your friends call me Auntie, too. You’ve told me that. You also told me you don’t want me to have kids so you don’t have to share me. Hey, dreams sometimes conflict. Your greatest wish is that we live in an apartment together, just a pair of best buds, having your coveted special time with Auntie. Me too, buddy.

I love how you love New York City. I love that you love dinosaurs and princesses and Moana and superheroes. I love that you see my illness has being taken care of by superheroes: recently you asked me if my doctor was a superhero. I reminded you that superheroes are pretend and you said that you wished they weren’t, so they could fix me.

Whenever I’m in pain in front of you, you tell me to try not to think about it. And in the days I’ve spent in the hospital, or the nights alone and sick at 3 am, I listen to you. I don’t think about it. I think about you and the Ooga monsters, and everything seems alright.

On the night I laid my hand on your chest, I knew I’d do anything for you, beat anything that might come in between us. You are growing up, so lovely and kind, such a helper. I wouldn’t exchange these last five years for a damn thing.

Love,

Auntie

NIH: Part II

Good morning. 5:30. I'm awake and here with your daily (ha) NIH update. I'm currently waiting for the blood stick to fully draw me from my half conscious state and back into the world. My room is empty and quiet, a welcome departure from the city hospitals, where privacy and sleep are nearly impossible.

I still can't sleep here, but that's not the hospital's fault.

I did some decorating yesterday, a lame excuse to buy all the dumb stuff at the gift shop I'm sure my parents would refuse me when they come. Take, for instance, this doll of Teddy Roosevelt. I mean, which other hospital could possibly sell a tribute to our 26th president? Not Mount Sinai, that's for sure.

It's only my second day here but I promised updates and though they may be as dry as the four graham crackers I just shoved in my mouth, hang in there.

On Sunday, I said goodbye to my girls and headed to Metropark, bound for DC.

I barely made it off the train in time due to an ill-advised moment of Instagram stalking. I I basically crowd surfed above an angry mob toward my suitcase, just in time to stand clear of the closing doors and enter the gorgeous Union Station.

I got into a Lyft with a deaf driver who did not appreciate my attempts to finger spell direction and finally texted me to stop trying to use ASL. I responded with my newest sign: bullshit. JK grandma!

I made it to the National Institutes of Health after a thorough security check and settled into a far off wing they'd resuciatated for patients after a water main break. I was thrilled when they called it the Ebola unit because that meant no roommates for me. And since my last roommate was fond of crapping the bed literally every 45 minutes, I gazed upon the empty bed next to me with teary eyes.

So: why the f am I here again? Didn't I spend most of February in the hospital, not losing weight despite vomiting everything? Aren't I amazing about not being bitter motheruckingsonofabitchskinnybastards

I came down to begin a drug called ruxolitinib. Thie drug has recently been used in a handful of patients with my STAT1 genetic mutation. The hope is the drug stops some of the mouth sores, the infections and the general malaise and fatigue that awaits me every day. It'd prevent aneurysms and generally save me for a bit. Sadly, it would not rid me of Type 1 Disease. That bish is here to stay. Dammit.

Unfortunately, for the last few weeks, I've had extreme jaw and mouth pain. Yesterday I saw the dental clinic. The doctors there decided I need IV antibiotics and the experimental treatment I traveled here for will have to wait until my mouth heals.

This means that my two week stay may be more of a three week stay which a huge bummer because I'm on day 2 and I've already anger colored all my coloring books in a manner in which suggests I need occupational therapy.

So the plan is to get a line in today and go from there. I'll also meet with pre-anesthesia and tomorrow they'll Michael Jackson dose me while they pull my last remaining teeth left.

In the mean time, thanks for the love! 

Love you all, in vary degrees of appropriateness.

PS: many of you have asked for my NIH address:

NIH address: Kelly Bergin National Institutes of Health 9000 Rockville Pike Hatfield Building , Unit 5NE, Room 5-2412 Bethesda, MD 20892

What Happens Now: the NIH Special Edition Blog

Last week at the National Institutes of Health, my team of doctors met with my parents and me for a wrap-up meeting. It had been an incredible week, full of great attention to each of my symptoms. We sat down after 5 days and listened to the team of doctors and their plan to treat the genetic mutation I and 100 other people in the world were born with. Yes, only 100-200 other humans on this planet have this mutation! I always knew I was special. *Here's more about Primary Immunedeficiency disease: http://primaryimmune.org/about-primary-immunodeficiencies/

The short summary of this fatal condition is scary. Some with this mutation have severe disease and as a result, have died as children and young adults. Those with mild disease have lived into their 50s. And those with moderate disease fluctuate in their prognosis. I have a moderate/medium fry sort of disease, perfectly mediocre, just like my grades in high school.

There is no cure but there is a bone marrow transplant option. It's as close to a cure as possible, which is cool, BUUUUUT there is a significant risk of terrible side effects, and my doctor (an expert in BMT and Stat1 GOF) has seen patients die of infection after getting new bone marrow. A bone marrow transplant requires the immune system of the sick patient to be completely replaced by their donor's, but it doesn't fully erase the mutation. However, the transplant may end up being necessary for me. 

A BMT would require at least 60 days inpatient. And then I would temporarily live down here for awhile in patient housing as I recover. Because of the nature of my disease, a bone marrow transplant is riskier than it is in most cancers. There's the risk of graft versus host disease and death if the transplant does not take and a new immune system fails to thrive. Scary stuff, I know! It's possible I won't need one if these new treatments work but it is absolutely something that is on the table and on a 6 month to a year timeline. The risk in waiting is that I could continue to pick up infections that have irreparable damage. Patients with this mutation also have an increased risk of cerebral hemorrhage and they found a tiny aneurysm that is too small to worry about for now, but it will be followed up every 3-6 months with MRA scans.

The good news is that we don't have to jump to a BMT right away. But first, we're gonna try a drug given to multiple myeloma patients. That's where we will begin. I'll be back inpatient for a week this month to see if this experimental treatment might delay the transplant.

In other news, my organs are all in decent shape which is great. Nothing is an emergency right now, and everything is going to be super closely monitored. My doctor told me a bucket list is a good idea but also told me not to freak out and think i'm about to die. Which I totally only do once a day hour minute WHATEVER MA

On my last morning the psychology team came in to see how I am dealing with the news. It's probably the denial but I feel OK about it. Obviously the mortality rate scares me but if it works, my life would dramatically improve. Nothing can reverse some of the damage that has been done, and type 1 diabetes is here to stay. But it would likely rid me of the constant infections and inflammation that wear me down and keep me in the hospital. I'm very grateful to have the team that I have, here at NIH and at Mount Sinai. One of my NY doctors, Edith, even came down for the day yesterday to see what they had in mind and to see how I was doing. I feel extremely confident that we aren't rushing into this. The timeline gives me generous amount of time to travel and see a few things in case I'm isolated from the world for 3 months.

To sign up to be a donor, please visit BeTheMatch.com. The initial test is just a swab. If you do match, the procedure is unpleasant but not terrible. Plus you'd be saving a life. MYYYYY LIFE! (JK.)

And to help support my personal bucket list and the First Descents organization, which has brought so much joy and meaning to my life as things have gotten harder, please visit my fundraising link. I plan to walk a 5K and I'm excited to raise money for my favorite organization! https://support.firstdescents.org/fundraise?fcid=441725

As always, thank you so much for your love and support. I have so much to live for and I will fight, fight, fight as long as I can.

Love,
Kelly