Posted by: Hallie Levine | January 19, 2012

When the Universe Seems Totally Against You

I took Geoffrey to see a very well respected pediatric geneticist at Montefiore Medical Center yesterday.

There are some extremely rare, potentially life threatening syndromes associated with albinism. Neither our pediatrician or our pediatric ophthalmologist or even Jamie and I really thought he could have them, but we all agreed they were serious enough that we should have the testing done to rule them out.

The appointment was at 9 am, so of course I was running around like a crazy woman trying to get everyone dressed and fed so Geoffrey and I could get out the door with enough time to make it to the Bronx during rush hour traffic. Halfway there, I realized I’d left his bottle in the bottle warmer and the extra diapers in a pile in the laundry room. Oops.

I guess I should have taken it as a portent of things to come.

We did manage to get there right at 9 am but the first hour was spent filling out paperwork, getting Geoffrey weighed and measured, and answering what I thought were inane questions from the resident and medical student. Geoffrey was hungry, exhausted, and headed for a straight meltdown when Dr. M walked in. I was looking forward to meeting Dr. M. I’d interviewed him years ago, when Johanna was four months old, for a piece I wrote about her birth for Baby Talk. We exchanged a few pleasantries but it became quite clear almost immediately Dr. M didn’t want to waste time on chit chat.

“What’s this?” he asked, pointing to a cut under Geoffrey’s nose.

“He was trying to reach for a toy and did a face plank right on top of his older brother’s train tracks yesterday,” I said. I wondered why Dr. M was staring so intently at my son. It was making me a little paranoid. Did he think I was abusing my child?

“Does he bruise easily?” he asked. “No,” I said, and then I realized where Dr. M was going. One of the rare genetic syndromes associated with albinism is Hermansky Pudlak Syndrome, a metabolic disorder that causes not only albinism but platelet dysfunction, which means people bruise easily and have prolonged bleeding. It’s also been linked to potentially life threatening pulmonary fibrosis, which often shortens the life span.

 “I have noticed a few more cuts and bruises on him than his two older siblings, but he’s also much more active than they were at their age. He’s constantly bumping into things, or one of my other kids always falls on top of him.” I realized I was babbling but the doctor’s gaze was making me incredibly nervous.

“Are you worried about HPS?” I asked finally.

“I see it a lot here in two populations,” he said.

“Yes, I know, it’s very common among Puerto Ricans,” I said. “I read somewhere that one in twenty of them carry the gene.”

He nodded. “Yes,” he said. “You’re right. But there’s one another population where I see it a lot.” He paused. “Ashkenazi Jews.”

It was like I had been thrust head first into a pool of ice cold water. I stared at him in shock. He was talking but I couldn’t hear him. It was as if I was under water, watching his mouth move.

Then he said, “where is your family from?”

 “Eastern Europe,” I said numbly, and then, before he could ask, “My husband’s too.”

We just looked at each other. I saw sadness in his eyes, and pity. “I am sorry,” he said. “I know how much you’ve been through with your daughter. It’s not fair, I know.”

“What do we do now?” I asked.

He straightened up. “I want to test him for the HPS 3 mutation, which is the one we see with Ashkenazi Jews,” he said. “It will take a while to get the test results back because there’s only one laboratory that I know of that does the screening. You should make a follow up appointment in two months.”

My mind was racing. “But what if the test’s negative?” I asked him.

 He looked at me.

“Have you done this test on an Ashkenazi Jew with albinism and had it come back negative?”

He shook his head.

“Just so you know,” he said, “Type 3 is considered one of the mildest forms of the disease. So even if he has it—and we’re not even sure he does—this is something that we can manage.”

 I didn’t say anything. “We’re starting a center for people with HPS in the next few months,” he added. “If the test does come back positive, I will put you in touch with the woman who runs the HPS support network. She’s wonderful.”

“My lucky day,” I said sarcastically. It clearly wasn’t his fault—and I could tell he wasn’t relishing telling me this news—but right then I wanted to shoot the messenger, so to speak.

As soon as he left the room, I called Jamie and we googled Ashkenazi Jew and HPS type three. We learned a fair amount in ten minutes—that type three is considered the mildest form of the disease and that most people don’t have any lung issues. We learned that many people with HPS type three aren’t diagnosed into adulthood (including one disturbing story where someone bled so much after strabismus surgery they needed a blood transfusion). We learned that the carrier rate for Ashkenazi Jews (translation: us) was one in 253.

“With our odds we should be playing the lottery,” Jamie said grimly.

I kept it together long enough to bring Geoffrey down to the laboratory, where he kicked and squealed and wailed as the nurse drew blood. I kept it together long enough to get him dressed, schlep him out of the hospital, and into the parking garage, where I had to wait about ten minutes for my car with a screaming baby in the freezing cold. I held it together long enough to check his little veins to make sure he had stopped bleeding and wouldn’t hemorrhage to death on the way home. (He was fine.)

Once I got us back into the car and out of the Bronx and back onto the Hutchinson towards Connecticut, I lost it. I cried the whole way home. All I could think of was how not fair it was, how we had gotten our s—t together after Geoffrey’s diagnosis of albinism and how the one thing we had kept saying to each other is, “as long as he’s healthy, it’s okay.” And now there was a chance that he might not be healthy, that he might have some potentially life threatening medical issues.

Then when I pulled into our driveway I remembered I had a 1:15 pm appointment for a bikini wax. The last thing you want to do when you’ve found out that your son may have an incredibly dangerous, incredibly rare metabolic genetic disorder is go get a bikini wax, but there’s a 24 hour cancellation policy and I didn’t feel like calling the salon to convince them to let me out of it so I left a sleeping Teddy and Geoffrey with Ingrid, the nanny. When I told my waxer the story, she burst into tears. “I know no woman who deal with as much as you,” she said in her thick Yugoslavian accent. “It not fair. You in-credibly strong woman.” Which is a bizarre thing to hear when your legs are up in the air.

When I got home I called the HPS Network and spoke to the woman who runs it at length. Dr. M was right. She is wonderful. We talked for a long time about albinism and HPS—she has a 25 year old daughter with both—and we decided that in a couple months, once I get the test results back, she and I will meet for lunch. “You can’t worry about it now,” she told me. “He may not have HPS.”

“Have you ever met an Ashkenazi Jew who didn’t?” I asked her.

“No,” she said, “but that doesn’t mean they’re not out there. It’s such a small subgroup of people who have both conditions.”

But I do think there’s a good chance Geoffrey is one of them. The truth is, when Geoffrey was first diagnosed, I was struck by how many Jewish parents we found who had kids with albinism. It may just be random coincidence (especially since so many people Jamie and I know are Jews), but the reporter part of me suspects that there’s a good chance that some of these kids are also walking around with HPS 3. There are only two-three small studies on HPS 3 out there, but in each of them the study authors note that there are probably many more cases out there that they just don’t know about.

We’ll find out in four-eight weeks.

In the meantime, I’m watching Geoffrey carefully, trying not to obsess over every bruise or bump or freak out that he’s going to bleed to death the next time he smacks his head on one of Teddy’s toy cars. I keep reminding myself that this is what I signed up for as a parent, that every mother has her share of anxieties and worries and it’s just part of the job description. But still sometimes the unfairness of it all makes me want to scream. Our small family has dealt with so much already. Can’t we just get a break for once?

The bottom line is, I’m scared s—less. You can’t blame me for that.

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Responses

  1. Hallie- Daddy and I are so proud of you! Do you have any idea of how very lucky your children are to have you as a Mom? We love your babies very, very much and just know only good things will come…

  2. Hallie, you should be playing the lotto 🙂 I know what it feels like to have the universe totally against you. How many times can one person be the “1” in the 1 in whatever huge number they give you? I have also seen you take what the universe has thrown at you, and watched as you throw it right back in it’s face. You get stronger by the moment and that strength has enabled you not only to be a spectacular mom, but to be an even better writer, and a wiser, even more compassionate, open minded member of this universe. You make the universe better.

  3. Well, that is really rubbish. I’m sorry you’ve had yet another horrid and hard thing flung onto your (already more than full) plate.

    I don’t know you and I’m in no place to comfort or advise. But from what I’ve read from you, you are a brilliant mum married to a man who loves you and the kids. You are remarkable and your children are wonderful. You will continue to thrive, even through tears.

    I wish you didnt have to deal with this, or so many other things all at once. I’ll be praying for you all. Xxx


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