Do you know what happens when a Type A fixer turns into a rare disease mom warrior? Then have a listen!

Becky is a mom of 4, board member and volunteer of the HPS Network. Self-proclaimed bookworm, dance mom, soccer mom, and recently became a school board member. She currently fancies the term raptor mom in relation to defending and fighting for her children and those in her community. She holds a Bachelor's degree in psychology and one day thought she'd be a high school guidance counselor. Man plans, God laughs.

Transcript

Hi. My name is Becky and I am here to tell you a story about how my horrible dating history turned me into a rare disease advocate.

It's 2009. I'm a 26‑year‑old single mom to a wonderful 7‑year‑old little boy. My history is a fixer. I had the Bad Boy complex. Tattoos, criminal history, you name it, I was interested.

At about that time, I was like, “Okay, I'm done. I need to go completely different.” So I went on Yahoo! Personals. Yes, it was a thing. Like, Match.com and eHarmony was still in its infancy at that time. But we did Yahoo! Personals and I saw the profile of this guy. He had a job and no kids and no criminal history and a college degree.

So, I said, "You know, what the hell? Let's give this a shot.”

So, we connected. We had our first date in November of 2009. We were engaged by April of 2010, married October of 2010. Yes, super fast. I know. And then we were pregnant by that December. So, by the time we had our one‑year wedding anniversary, we already had a newborn. Again, crazy.

Anyways, all this to say, and I remind you, remember I'm a fixer and this is what I do. So, it was funny because, like during the pregnancy, I used to joke. We're both of Puerto Rican descent. He's actually half Puerto Rican, half Nicaraguan and I'm Puerto Rican, but he is a little paler than I am.

So, I used to joke, “I wonder how pale this baby's gonna be, right?” That was like the running joke throughout my pregnancy. I promise, the irony is coming here.

So, I'm on the table, having a repeat C‑section, because I'd already had one and decided, yeah, let's just go ahead and go with what works. Okay.

Anyways, I'm on the table, hear the baby cry. Everything looks good and then it gets quiet. Not what you want to hear when you've got seven layers of muscle tissue cut open.

I'm like, I look at my husband, I said, “Hey, what's wrong?”

And he's like, “The baby is blonde.”

I'm like, “What do you mean blonde?”

And he's like, “Like platinum blonde.”

At that point, the nurses are kind of giving each other looks, like, “Oh, my God, is this one of these situations where she cheated and the baby's not his or something?”

He kind of brushed it off. I mean, if you know anything about Puerto Ricans, we run the gamut. I have blonde‑hair, blue‑eyed cousins. He's like, “Well, my sister was blonde until she was like five and it changed.” So, we didn't think anything of it.

Took our baby home. We kind of noticed that her eyes had a horizontal movement back and forth, which we later learned was nystagmus. When we went and took her to her three‑month baby well visit, they're like, “I really think you should see an ophthalmologist.”

So, we found the best ophthalmologist in our area, came highly recommended. I will tell you his bedside manner was horrendous. It took everything in me not to have to just physically drag my husband out of there, because he wanted to choke the doctor. Seriously, he was just awful. I mean, he's manhandling our three‑month‑old baby.

That was the start of our medical journey. Not a great one.

And he's like, “Your daughter has albinism. She's never gonna drive. She needs sunscreen. And by the way, she's a little jaundiced. She has yellowing of the skin, but that's it. She'll be fine.”

“You might wanna go, if you feel like it and if you plan on having more children, you know, go see Children's Hospital of Pennsylvania Genetics.”

So that's what we did. We went to CHoP Genetics, met with their genetic counselors. They told us that it was a recessive trait. We had blood work done. My husband and I had blood work done. We're both carriers, so they started testing for the different types of albinism.

Nine months go by. Every different layer, thank God we had good insurance. Every layer of albinism, every test they did, it was coming back inconclusive as not being one of the albinism genes. At this point, she's now nine months. She's crawling. And she's crawling and she's bruising.

And they're like, “Well, you know, since she's so pale, bruises just show up easy on her.”

Now, again, this is where my new husband and our personality differences are very, very apparent. I am a fixer, as I said. I thought I could fix the bad boy. I thought I could fix friends, relationships, whatever.

I was like, “Wait, there's a problem here and I'm gonna figure out what it is.”

So, I went to Google and I started to Google. And any parent with a rare disease will tell you that is what you do not do, because the things you will read is horrendous. Anyways, I did it.

I stumbled across a website for a rare condition called Hermansky‑Pudlak Syndrome. I was on their website. Basically, it's a rare disease where it's a multi‑symptom rare disease. It's genetic. Mom and dad have to be a carrier. Every subsequent pregnancy is a 25% risk.

I read about it. They said bleeding disorder, so it's a platelet disorder. If you think about your platelets, a normal platelet looks like a chocolate chip cookie. It has these little dense granules in it that allows you to clot and not bruise. An HPS platelet looks like a sugar cookie. It lacks those dense granules. Everybody with HPS has it.

So, they have the albinism and that varies from like the classic albinism white hair to people with brown hair. The levels of pigment, all that is different.

Some people develop a Crohn's‑like thing, GI issues. Obviously, there's visual impairment. What struck me, and what was obviously most devastating, was that there are three subtypes that develop a fatal pulmonary fibrosis, which is a hardening and scarring of the lungs, of which there is no treatment.

So, I'm reading this and I'm sitting here and I'm thinking, “Wait, we've gone through all these tests. They keep coming back inconclusive.”

Then I read the little blurb, “Found there's effect on the island of Puerto Rico.” My husband and I are both of Puerto Rican descent.

I told my husband. I said, "Look, I really think we need to look at this."

And he's like, "No, no, I don't want to."

Again, mind you, it's a new marriage, so we're still learning each other. This is me, I am the fixer, the proactive, “Hey, I need to know what this is so I can do something about it,” and my husband is the bury‑his‑head‑in‑the‑sand type of person.

Here we are, a new marriage, new relationship, still getting to know each other and this child that we did not know what was wrong with her yet.

CHoP lost her blood work, by the way. We had to redraw an infant, which is so much fun. Then, finally, they looked at us and they're like, “Yeah, you're of Puerto Rican descent.”

I'm like, “Mm‑hmm.”

Like, “Have you heard of HPS?”

And I'm like, “I've done some preliminary research.”

They're like, “We're gonna test for that.”

So while I was waiting on them, because I am not a waiter, I called the HPS Network office. I actually got the executive director on the phone and we went over some of the lab work.

And she's like, “It sounds like your daughter may have HPS.”

And I'll never forget the last thing she said to me. She said, “It was great talking to you. Don't take this the wrong way, but I hope I never hear from you again." That's how we left that call.

A few weeks later, I remember I was in my kitchen. I was cooking chicken parm and my cell phone rings. I look. I see it's the number for CHoP. It's Genetics.

And they said, "Sorry to tell you, your daughter does have Hermansky‑Pudlak Syndrome, Type 1. Schedule for follow‑up appointment. We can talk about next steps, family planning, that sort of thing.” That was pretty much it. They kind of just dropped the bomb in the middle of me cooking dinner and went about their life.

At that point, it was serendipity that the HPS Network, they hold a family conference in Long Island every year. So, my husband and I, we're in South Jersey. It was a quick two‑and‑a‑half‑hour drive up the turnpike. We went.

At that point, I had read about the pulmonary fibrosis, I had told my husband about it. The brain is really great at having its own defense mechanisms. It protects yourself from what you don't want to know. Like, we were still reeling from the fact that our daughter likely couldn't play contact sports or drive or what that was going to look like. We couldn't even process pulmonary fibrosis yet.

So, we go to conference and we're surrounded by all these people who are happy to see each other. They're a family. It's great.

One session that we always have at conference every year is called HPS 101. It's done by a nurse practitioner from the NIH, National Institutes of Health. I'm sitting there and this was the first time that I think both my husband and I heard definitively, the nurse practitioner said, “Everyone with subtypes 1, 2, and 4 will develop pulmonary fibrosis.” That was the first time that we heard that, and I lost it.

I'm not a crier. I'm not an emotional person by any means. My husband still gets upset because I didn't cry when he proposed.

I managed to get out of my seat and get out. We're in a hotel. I managed to get up and get out of my seat and make it to the hallway and drop to my knees and start sobbing hysterically. Mind you, my husband has never seen me do this before. It's not in my nature. He didn't know what to do with me. It was all he could do to get me back to our hotel room so that I can completely decompensate.

Our conference is great in that there's childcare, so at least our older child and our child who was affected is in childcare with nurses and great people. And I spent three hours curled in a ball in a hotel room crying like my life has ended, because someone has told me that my 18‑month‑old daughter is going to die and there's nothing I can do about it. Again, not in my nature.

Then the juxtaposition of all this is that night was— we do a Saturday night dinner at conference every year too. And I see these people and they all have the same diagnosis, for the most part. Not every subtype has the fatal pulmonary fibrosis, but they're living their life. They're happy. They're together. They're family.

It was so bizarre that a few hours ago, I was crying like my life was ending and, now, here I am partying with my new HPS family. Then, again, I am a fixer. I don't believe in just rolling over and waiting for life to do whatever it is it's going to do. It's just not in me. I can't do that. I've been through way too much in my life to not do that.

When life gave me horrible boyfriends, I changed the trajectory. I went for somebody completely different. It just so happens to be that the one time I looked for somebody different, it happens to be someone who happens to be a one‑in‑a‑million carrier of a rare genetic disease. So, go figure. Life was not done laughing at me, apparently.

We made it through conference. We made it home. Conference ends on Sunday. Monday morning, we made it home. And the first thing I did, I called the HPS Network office back. Donna picks up again.

And I said, “I was at conference.”

She's like, “Yep, I know.” She's like, “You didn't look too good.”

I was like, “No, no, I'm not, but I'm not that type of person.” I was like, “This is not going to kill my daughter. It's just not. My daughter is going to bury me. I am not going to bury my daughter.”

I said, “Put me to work,” and the rest is history.

Thank you so much for listening to my story. And if you want to learn anything else about the HPS Network, Hermansky‑Pudlak Syndrome or how you could help, please visit www.hpsnetwork.org. Thank you again.