A haunting poem...

The parents who donated to create the NICU family lounge in Georgetown - they sadly lost one of their twins - are honored with a plaque that incorporates a framed poem written by the mom. The poem haunts me, because it encompasses some of the helplessness I feel holding Harper.

They say we’re NICU Parents

They say I’m your mother. But how can that be? I can’t lift you to my breast and nurse you.

You’re saving your milk until I can drink. Your love nourishes me now.

I can’t take you out for a stroll. I can’t show you the beautiful world outside your isolette.

You teach me something new each day. I see the beauty of the world in your eyes.

I can’t hold you in my arms. I can’t kiss your cheek or whisper in your ear. How can I be your mother?

I’m holding your finger with my tiny hand. The warmth of your presence soothes me.

They say I’m your father. But how can that be? I can’t give you my heart or kidneys to make you better.

I see you watching my monitors and studying my chart. You’ve learned so much to help me heal.

I can’t rock you to sleep or tuck you in. I can’t hold you on my lap and tell you a bed-time story.

You read to me and call my name. The sound of your voice makes me stronger.

I can’t fly you over my head. I can’t tickle you or fill your room with toys. How can I be your father?

I love the musical parrot you gave me. Do you see how my oxygen sat rises when you play it?

They say we’re your parents. But how can that be? All we can do is pray. All we can do is stay by your side. All we can do–is love you.

Thank you for being such good parents.

The Wonderful Wizard of SLOS

Harper Merrick Wolinetz, our little bean, she of the beautiful name and sweet face, is going to die. That was the takeaway of our meeting with Denny Porter at NIH.

It is very strange to come to NIH as a parent, instead of as an advocate.  I have been to the campus probably hundreds of times. Sat across the table from two NIH Directors and probably the director of every IC. Eaten a lot of terrible cafeteria food, sat through stultifyingly boring meetings, and had my steering wheel swabbed dozens of times. I’ve probably collected enough security pass stickers to wallpaper my living room.

And I am a true believer in what NIH does. It’s not just my job – I really believe we owe our improved health to medical research. That vaccines are medical miracles. That people no longer die of many conditions that threatened our parents. That NIH serves as a symbol of hope for patients and their families who are facing incurable illness.

Except now the patient’s family facing the incurable disease is me. And for Harper bean, there is no hope.

And even those on a first name basis with the Director of NIH have to fill out a lot of irritating paper work to talk to someone in the Clinical Center.

Dr. Porter, the Wonderful Wizard of SLOS, really is as amazing as every SLOS family has told us. Compassionate, intelligent, kind – everything you would hope for in a clinician scientist. While it was not news to us, he gently affirmed that Harper’s case of SLO is unambiguously severe. “She must be strong,” he told us, because most babies with cases so severe are not born alive. He thought that our plan for hospice was a reasonable one and that we need to focus on her comfort. He gave us advice on talking about Shea about what was happening and offered his support as we decide whether to move ahead with having more children. Dr. Porter told us that SLOS babies tend to be fussy when you hold them, it’s part of their disease. Hold her anyways, he told us. Know that even as she fusses, she gets comfort from your presence.

How long? Soon, he thinks.

In this moment, I am numb and tired. I am back to being able to talk calmly about calling hospice. About making treatment decisions.

Not so earlier when I was in the hospital, feeling my baby slowly get sicker as I held her in my arms. As I learned that my little Harper bean was blind, that she would never, ever see her Mommy’s face. As I thought about the nine months she was inside me, kicking me, filling me with hopes and dreams for her, keeping me up at night with worry as every medical issue was revealed. I will never see my little girl grow up, never hear her laugh or dance or run, never hear her sing,never hear her first word or know what her favorite food is, never see her Daddy walk her down the aisle – or the millions of other memories we make as a family.

I don’t want to plan a memorial service for a daughter I feel like we barely know. Who I’m starting to believe I will miss forever. Not sure if I will really be strong enough to say goodbye. To spend the rest of my life telling people I had a daughter and she died. 

For now, I'll just say goodnight. Goodnight, bean. Mommy and Daddy love you. 

Lots going on...

One of the downsides of a baby in the NICU is that it prohibits the wearing of a major component of the post-partum wardrobe, namely pajamas. Leaving the house every day requires actually getting dressed, making me wish I owned way more yoga pants. And avoiding becoming what other NICU parents refer to as the "frumpy NICU mom" look.

One more thing that makes it hard to get out of the house which already is starting to feel like I'm going to the hospital to sit and watch my baby die.

"You're not," Lou says, "You're going to hold your baby and cuddle her so she knows her Mommy loves her."

"Don't feel good, Mommy."

When I arrived today, Harper was a jelly bean, having managed to entirely coat herself in ultrasound gel as they repeated her abdominal U/S. The ophthalmologist has also stopped by, and he reminds me inordinately of Sascha Baron Cohen.

Long story short for today: our little girl is not doing well. Chest xrays are showing signs of pneumonia, her liver is not looking good, and there are signs of necrotizing enterocolitis. Still feverish, although her temp is getting better, and back on high flow oxygen. At least she's de-satting less with the additional respiratory support. But vomiting at every meal, and clearly not feeling good. Not my lively little bean at all.

So we've reached a point where we may need to make some tough decisions. How aggressive do we want to be treating these infections, especially when IV access is so hard to come by? The NEC treatment might normally involve stopping her feeds, but we can't do that, because we can't get a PICC line in her for continuous fluids.

Not sure if it will help, but we're meeting with the Wonderful Wizard of SLOS, Dr. Porter, at NIH this afternoon. Pretty sure he won't tell us anything we won't know, but affirmation might help us with a painful path forward...

Return of the dreaded scalp IV

Sick little bean

Harper is sick.

Not just rare and potentially lethal genetic disorder sick, but actually showing signs of illness. My poor little girl has run a fever all day, is listless and sleepy, and just vomited up her dinner for the first time. Eyes are goopy and runny. Blood work shows signs of infection - increased white count and elevated CRP. In a bonus, elevated liver enzymes and biliary sludge. (I find biliary sludge to be a odd medical terms - sounds more like the name of a garage band).

Little Miss Harper spent the day snoozing on mommy.

Poor sick bean

I am writing this while pumping in the mother's lounge because I couldn't bear to watch them try to place a new IV in my baby to give her antibiotics. She's such an impossible stick and she's already spent the past hour fussing weakly because her tummy was so upset. So here I cower.

Hat courtesy of our new neighbors

Decided not to put her through a lumbar puncture at this point. She'll be getting antibiotics either way. Awful not to know if this is the beginning of the mysterious infections and systematic organ failure common is severe SLOS infants or if this is just a baby bug of the sort tiny, vulnerable infants are prone to. Even more awful not to know if our treatment decisions would be different if we knew the answer to that question.

We will hopefully have our meeting with Dr. Porter at NIH this week. At this point, it's feeling a little anti-climactic, since we'll likely also be meeting with folks from hospice. But at the least, Lou and I need to get the wheels rolling to make sure we're tested for the mutation we're carrying. And the good doctor might give us an indication of how much time we have with our little girl.

Spent a lot of time talking to the social worker here today, who is the one setting us up with folks from hospice. She tells me everyone here is learning from the grace that Lou and I are showing in the face of this hideous circumstance. Not feeling graceful so much a blubbering at the moment.

Wearing footie jammies for the first time

This is the latest I've stayed at the NICU since being discharged from the hospital and the most torn I've felt. Half my heart wants to do nothing more than hold my sick little girl in a perhaps fruitless effort to make her feel better and let her know. And then I want to be at home with Shea, whose company is like a balm to my soul.

Had a horrible nightmare last night about Harper dying alone in the hospital and getting a late night phone call. The only thing worse than the thought of her dying at all is the thought of her dying without us there to comfort her.

Ugh. Just ugh.

A little knowledge is a dangerous thing

It may really be in my best interests to stay away from my computer sometimes.

I have a Ph.D. in the life sciences, although as the years away from the lab go on, I am no longer a practicing scientist. But the research skills are still something I use in my everyday profession, and have only been honed by access to internet tools that didn't even exist back in my actual scientist days.

And as anyone who knows me knows well, I read very, very fast. In real life, it makes me a total book club nerd. It makes me a difficult person for whom to buy books as a present, because odds are good I've already read it. It also allows me to be kind of lazy, because I can catch up on documents at the last minute.

Combined, these skills lend themselves naturally to trying to understand everything I can about Smith Lemli Opitz. As well as perinatal palliative and hospice care.

Bad idea. I am now back to feeling pretty damn depressed.

I had actually skimmed much of the primary literature previously - such a rare disease, there's not much of it! But it's something else entirely when you're looking at the primary literature to reaffirm what you already know, what experts have already told you: Harper has a severe case of SLOS and in the cold, hard world of published literature, every case study that matches hers ends in infant death.

Nothing new, of course. Heck, I talked all about that in the previous blog post.

But then I started reading about perinatal hospice. And some support groups boards about dealing with the death of a baby.

No matter it's the right thing to do, no matter whether it's the best outcome, no matter if it's the only outcome, it is devastatingly, soul crushingly sad. So much so that "sad" seems like an incredibly inadequate word.

In fact this entire thesaurus entry barely scratches the surface: bereaved, bitter, blue, cheerless, dejected, despairing, despondent, disconsolate,dismal, distressed, doleful, down, down in dumps, down in mouth, downcast, forlorn,gloomy, glum, grief-stricken, grieved, heartbroken, heartsick, heavyhearted, hurting, indoldrums, in grief, in the dumps, languishing, low, low-spirited, lugubrious, melancholy,morbid, morose, mournful, out of sorts, pensive, pessimistic, sick at heart, somber,sorrowful, sorry, troubled, weeping, wistful, woebegone

I don't want to give myself false hope that Harper will get better. PubMed is like an icy shower that prevents that from happening. And, the truth is, that even if the chances of her living long were not incredibly slim, even her best case outcome is not a good one.

But there is apparently some mother's instinct that will only allow the peaceful acceptance of a child's mortality sit tranquilly for so long, before you start to viscerally reject it, like an invading pathogen.

So while I'm intellectually girding my loins for what's to come, and finding comfort during the sunny hours of the day, as night comes I feel breathless with the sorrow of it all.

How can life possibly be so unfair to our little one?

Fuck you, Punnett Square.

Lots to think about

Lou and I had a lovely Sunday morning with little Miss Harper. She really seemed blissed out snuggling skin to skin with Mommy and Daddy in a lounger chair. And we had fun decorating her with a little pink head bow given to her by our friend Sara (well, I enjoyed it - Daddy rolled his eyes a lot!) It was about 10 times too big for her head, but a girl needs her accessories, right?

A few days ago, Lou pointed out that in some ways, knowing that Harper's condition was so severe that she was unlikely to make it would allow us to better enjoy the time we had left with her. At the time I thought it seemed kind of counter intuitive - could you comfortably bond with a baby that you knew was going to die? Wouldn't you start to naturally distance yourself from her, so as not to go through all the stages of grief, all over again? After all, there's probably no worse feeling in the world than losing a child - why would hurtling towards that bring peace?

But this idea came up again today, after a final conversation with our attending neonatologist. Sadly, today is her last day at Georgetown; she's rotating to another hospital for the summer. We're incredibly sorry to see her go; she has been the most compassionate, caring, and commonsense physician we've ever had the pleasure of meeting, and she has truly been a partner with us in providing for Harper.

Showing the Wolinetz lips??

We began with just a medical update. They've started Harper on another diuretic, one that is a little less draining on her electrolytes, and while there may be some very incremental improvement, she is still de-satting constantly. Still on 1 L of oxygen. More troubling, perhaps, is the continued weight loss - she's down to 4 lbs, 5 oz - a 9 oz loss since her birth and steadily dropping. Now some of that is probably due to the diuretic. However, it's not a positive sign that she is eating and tolerating milk perfectly fine through her NG tube, peeing and pooping normally, and still losing weight. Makes one wonder whether there's something wrong with her ability to metabolize the nutrients. Her breastmilk is being fortified now with high calorie formula - we'll see if that reverses the trend.

Then came the more serious conversation. Our neonatologist had heard back from Dr. Porter, the expert from NIH (as have we - appointment to be set up, hopefully this week). He confirmed what we'd already discussed: Harper's anatomical abnormalities and extremely low cholesterol make her prognosis very poor. Our doctor's interpretation of his note was that he didn't even think it made sense to begin cholesterol treatment. Mostly, he seemed to want to know where we, the parents, were. I'm sure on any number of diseases and conditions with which he works, he sees ranges of parents reactions, from "do anything to save my child!" to "I just want our baby to be comfortable/happy" - and he was gauging his response and our expectations based on where we fell on that spectrum. Something we'll no doubt talk to him about when we actually meet in person.

So what happens next? Harper's condition might be described as sub-stable. She's not entirely stable, since she's still relying on some oxygen and an NG tube. But she's not in imminent danger, either. And our doctor is in agreement with our desire to get her the heck out of the NICU, since she doesn't really need an acute care environment.

Our beeping nemesis - the monitor

The options are to move her to a longer term, less acute hospital setting - she mentioned the Hospital for Sick Children, which neither Lou nor I had heard of. Or try to set up an in home nursing situation, which would involve us, probably with some sort of nursing assistance, dealing with a feeding tube, oxygen, and monitor at home. This led to a discussion of whether it made sense to try to move forward with the implantation of a g-tube - far easier for parents to deal with than an NG tube. Our doctor is not entirely sure whether Harper would survive the surgery. From our perspective, on one hand, since we're essentially transitioning her to a hospice-type situation, if she remains in this sub-stable state, perhaps her ability to withstand the surgery is not the first consideration. On the other hand, I'm not sure I want to subject my little bean to the pain and discomfort of a surgery if it's more for our convenience than her quality of life. Clearly, lots more information will need to be gathered here. We also need a better understanding, which we're hoping Dr. Porter and other physicians we'll be talking to can help provide, of how long-term a situation we're talking about here. There seems to be growing consensus that Harper will not improve, regardless of treatment, but will she be with us for weeks? Months? A year or more? What's needed to keep her comfortable in that time?

In other words, a really, really long phone call with our insurance company is in our near future. Plus, Lou and I are pretty eager to talk to a child life expert in what's best for Shea - is having a possibly terminally ill baby sibling at home the right thing for him?

And then there's us and how we're feeling.

I shed a lot of tears on my little Harper's head after this conversation. But they were a different kind of tears. Sad, but moving past tragic. Maybe I've reached the acceptance stage of grief. Maybe I'm a monstrous sort of person for being able to calmly discuss bringing my daughter home to die in comfort. Maybe Lou is absolutely right that having a better grasp on Harper's mortality allows us to really enjoy the moments we have with her now.

Because it really was a lovely Sunday snuggling with our Harper bean. Kissing her soft head. Telling her about our day. Feeling her little heart beat against ours. Laughing as the beeping monitor kept reminding Lou of the beginning of ABBA's Mamma Mia, which he would sing to our baby girl. Watching her sprawl, zen-like and happy, in her bassinet after hours of being held by Mommy and Daddy.

Oh, Harper love, you are one complicated little bean!

On friends and family....

One of the positive things to come out of this whole experience has been the extraordinary outpouring of love and support from our friends and family. Our freezer is stocked with food, dinner and hugs have been delivered, garden planted, and Shea has all sorts of fun new toys to distract him from Mommy and Daddy's distraction.

No cell phones in the NICU, and at the end of the day. we're often too drained to return all of the caring phone messages and emails we've received.

Since I know that many of you read this blog, I wanted to take this opportunity to give a huge THANK YOU to family, friends, colleagues, and even strangers (or former strangers!) who have reached out with offers of help and support. We cannot possible express how much every note, every kind gesture, and every hug has meant to us.

People have comments how lucky Harper is to have us as parents, but we think she's even luckier to have been born into such a wide circle of love. And we, in turn, love you all right back!

Hope

Every nurse in the NICU seems to be named Katherine. In the 9 days we've been there, there have been a couple of Kates (which may be short for Katherine) and two Megans, but otherwise - all Katherines.

So when I stopped in this morning to check in on Harper and drop off milk and our new nurse introduced herself as "I'm Katherine," I stopped just short of saying, "Well, of course you are!"

Going to Paul's Ride for Life, a charity bike ride organized by very dear friends, was a mixed blessing. On one hand, it was great to see them, it was a gorgeous sunshiney day, my Shea was insanely happy to be out and about, and it was a relief to be out of the NICU.

Then the guilt and sadness began to hit. A week ago I was in the hospital, having a baby. What was I doing out, without my baby? How could I have left her all alone at the hospital? Which led down the dark path of thinking about whether she has enough awareness to really know I was there or is comforted by me in any event..

So it was a little bit of a relief to return to the weary darkness of the NICU, to hold my girl. To let Shea meet his baby sister again and watch him learn the joy of a tiny baby clutching his finger for the first time. To watch her open her eyes and wave her arms, like any newborn baby, and feel sure that she was focusing on my face. To realize for the first time, I want this baby.

Shea holding Harper's hand

So here's my new place: I really want to bring Harper home and treat her as much like a normal baby, like a member of our family, as we can. I don't know whether Harper will live past infancy or if she'll be here 30 years from now. I don't know what her prognosis is in terms of whether she'll respond to treatment, surgeries, interventions, etc. I don't know how that prognosis will inform decisions we'll make related to her care. I honestly don't know how hard it will be or if we can handle it.

But the only way I know how to make this work is to be the kind of mom I know how to be. One who snuggles and snoozes with my baby. One who sings and reads to my children. One who delights when they make new strides. One who travels with my family, to try to introduce them to the world beyond their own doorstep.

Will Harper have the ability to enjoy or appreciate any of that? I have no idea. But I love her and want to incorporate her into our family. The family that Lou, Shea, and I have built. I want whatever time she has on earth, whatever quality of life she is able to have, to be surrounded by us loving her.

As Shea sat on the couch tonight and told me a long, imaginative story about a dragon beach he had visited and gave me a huge hug, I felt sad that I would never get that from Harper. But I could imagine her snuggled in my arms as Shea told me that story. And I could imagine getting excited about a vacation with Shea and Harper together, even if she won't get the same things out of it that he will.

Step one, get Harper the heck out of the NICU. She's still de-satting up a storm, but is off the high flow oxygen. Trying another dose of Lasix, to see if that helps. And because she's losing some weight, they've added some high calorie formula to her breast milk to try to boost her caloric intake. But she's generally stable, handling her food just fine, continuing to improve her sucking.

Lou and I are agreed - barring some major change in her condition or new information from our consult with Dr. Porter, at the end of next week, we're going to start to push to bring Harper home. If that's with a g-tube and a monitor, so be it. If her life is shorter than it would be in the hospital on a respirator, so be it. If it is the first step in long series of surgeries and interventions, so be it. But we need our baby home.

Severed

No matter how beautiful the sunshine or how happy my boo is, being out and about a week after having a baby,  without my baby, is like  leaving home without my heart.

An ode to my husband

When you meet someone in college, there's no way of knowing that 20 years later you'd face a personal crisis of enormous magnitude together. In the past 8 days,  Lou and I have been remarkably in sync over every discussion and thought regarding Harper. Our joke for the first few days was that while we were both losing it on a regular basis,  so far we had managed to avoid breaking down at exactly the same time.

We're a little out of sync now,  in the sense that he has moved on to more of a place of calm acceptance,  and I'm not there yet. But even as I struggle with the day to day,  he is there for me,  every step of the way. He is the one who is making me laugh through my tears,  convincing me we will survive this and will come out stronger.

Our relationship has never been a sea of tranquility. I have a hot,  impulsive temper,  easily set off by stupid, small hurts,  while Lou possesses a slow burn that can erupt into a terrible and cutting rage. We know each other better than anyone knows us,  which means we can be very good at knowing exactly how to hurt each other.

But we vowed years ago to take each other on adventures, and we have enjoyed them together,  large and small. On the wall of Shea's room it reads "You are the best adventure" and that has certainly been true. And every minute of conflict has been balanced with hours of laughter,  friends,  family,  and love.

This week, I have had the opportunity to fall in love with my husband all over again,  amidst horrible circumstances we never could have imagined. I don't know what our lives or Harper's are going to be like going forward but I am so amazingly glad that 20 years ago I met the man with whom I'll be sharing that future.

Love you,  Lou.

The Eighth Day

Lou ran into the Rabbi at Georgetown yesterday, who said a blessing for Harper. This caused us to realize that we should think about giving her a Hebrew name. Fortunately, unlike the bris which is supposed to take place on the eight day, the simchat bat has a lot of different interpretations on when it should take place.

So we've got time. But we did break out our book of Hebrew names to start considering possibilities. Painfully, many name options seemed completely inappropriate, because it seems like 90 percent of Hebrew girls names basically translates to "Joy" which may not accurately describe our current emotions. Most of the rest of the 10 percent seem like synonyms for livestock or produce (ex. Eglah, meaning - and I kid you not - "heifer").

The three that perhaps rang true were: Anina, meaning "Answer my prayer" although I'd have a rough time articulating what I was praying for; Kinnor, which is sort of a translation for "Harp" and is traditionally a male name, perhaps fitting in our unique situation; and Miryam, which not only is a beautiful name we both like, but also has a double meaning of "sea of sorrows" and "wished for child," which eerily echoes some of our feelings about our poor little bean.

It was primarily an uneventful day at the NICU, which meant some time just enjoying Harper's company. Giving her kisses and hoping she wouldn't constantly de-sat while cuddling. She is finally free of her ugly scalp IV and spent the day largely alert and awake, peeking at us more and more. It felt very much, many times, like she was looking at me, but that is likely just my overactive imagination combined with wishful thinking.

Harper also got to spend some time with her Grandma Lin.

Got some more test results back. In no surprise, Harper's androgen and anti-Mullerian hormore levels were very low. Girlie parts - check.

Our efforts to stop Harper's de-sat alarm by re-positioning her were a colossal failure. Her oxygen saturation dipped well into the 80's no matter if she was on her belly, her side, straight up, or snuggled skin to skin with mommy. And no matter what level of oxygen she was on. Yesterday, we tried a dose of Lasix to see if it would help, and her de-satting did decrease a little overnight, but nothing too dramatic.

On the other hand, her sucking ability is moving forward by leaps and bounds. Getting lots of good sucks on my finger, she really seems to crave the taste of breast milk when a pacifier or finger is dipped in it, and sucking seems to actually offer her some comfort when she's fussy. She also let me do her stretching exercises on her little club feet. I find myself rejoicing in these accomplishments swiftly followed by the weight of sadness that such hallmarks are only so exciting in a baby whose future is so up in the air. But I found myself cheering on her amazing strength - she can really hold her head up and has surprisingly strong upper body strength - and comparing her to Shea, who was able to lift his head from day one. Falling in love with my tiny little daughter, even as the burden of being her mom is starting to feel like a claustrophobic chamber I can't escape.

It is too soon to make any clear decisions about Harper's care, when we still are trying to understand what her prognosis really is. But I think my desire to get her out of the NICU and home with her family, come what may, is becoming stronger with every passing day.

Eight days in, there still has not been one without significant crying. I think Shea is starting to sense there's something going on, because he's been a little clingy and temper tantruming, as well as waking up at night, in a way that is not typical for him. Talking with a pediatric psychiatrist/child life specialist about how we talk to Shea about everything going on is on the to do list for this week. Ugh.

Had an enjoyable evening with family and friends, and talked about plans for the weekend - in which I'd like to plant my veggie garden and Lou wants to participate in a charity bike race - and now feel myself hyperventilating a little from the guilt of doing anything else while Harper is alone in the hospital (well, as along as one can be with the bazillions of people there always are roaming about the NICU...)

Hope you're sleeping well tonight, Harper Bean. We'll bring your brother to come visit you tomorrow.

The Family Meeting

Geneticist: "Tell me about yourself. Are there any significant health conditions in your history?"

Me: "I was diagnosed a number of years ago with Behcet's disease, but have been asymptomatic for years. [Pause] Because you can never have too many exceedingly rare diseases in one family."

[Laughter}

I made a joke today. And was able to laugh about it. Dark humor, to be sure, but still real laughter. Maybe things are getting better?

Unfortunately, things didn't start off well in the NICU this morning. When we got there, the speech therapist was working with Harper. In good news, she seemed to be doing well in successfully sucking, and seemed particularly interested in fingers and pacifiers dipped in milk.

However, when handed to me, she immediately freaked out and started de-satting like mad. Mom that I am, I began gently bouncing/rocking her and shushing. I got a gentle reprimand from the speech therapist -  who, don't get me wrong, I really like - and immediately burst into tears. Apparently, I can't even "mom" Harper right!

Taking a break in the sunshine outside, I began to imagine an entire summer of endless days, alone with Harper in the NICU. And was overwhelmed with feelings of depression and hopelessness.

It began to get a little better after that. Look who we captured on film peeking at us through her finally opening eyes!

And it seemed like sometimes, when we held her upright or cuddled with her, her stats would improve some, although still seldom getting higher than 93.

Miss Harper even enjoyed some skin time with Daddy.

Then, this afternoon, we had a "Family Meeting" with our neonatologist, geneticist, and social worker. No surprises, but they gently brought up that given the serious anatomical abnormalities Harper presents and her very, very low cholesterol, her prognosis for survival was not very good. They're not sure she would be able to be safely anesthetized for surgery, perhaps wouldn't even survive placement of a g-tube. They think her continuous respiratory issues, as indicated by the constant de-satting, are a very bad sign.

Despite this litany of bad news, it was actually a very good meeting, even as I'm still sorting through my feelings about it. We were able to calmly discuss our options for what happens next, noting that we weren't interested in putting Harper on a respirator or long-term life support, given the low quality of life she faces, and that we weren't interested in putting her through a host of intensive surgeries if the chance of surviving them really seemed low. We talked about palliative care. We talked about where we go if little Miss Harper surprises us and actually improves. We couldn't have been more impressed with how supportive and wonderful the entire team was - none of us want to see our little bean suffer. They, in turn, seem very impressed with how in sync Lou and I are, and how well informed. We walked away from the discussion feeling kind of hopeful and relieved for the first time since she was born.

Which, in many ways, is an awful feeling when the whole conversation was essentially about our baby dying.

Afterwards, we held our Harper Bean, kissed her head, and watched her oxygen saturation rise as she sat with her Mommy and Daddy.

"Say Happy Birthday to Shea for us!", the NICU nurses call as we left.

When I fall asleep, the nightmares begin

At first, they were all about a baby crying, and I couldn't get to it. The floor would fall away, it would be dark, there would be a maze of endless room - and the baby would cry and cry and I  jusyt couldn't get there,

Now they're about bad things happening to Shea. So very real and so very scary. And I wake up panicked and covered in sweat. The three hours between pumping sessions start to feel endless.

(Although tonight, even as my heart was racing and the tears were coming, Shea called out for Mommy in real life. When I went to check on him he asked for a back rub, "I want you to pet me." Good calming medicine.)

The counselor today asked, "What about you? Are you getting any sleep?"

Um, no,

Happy. happy....

Three years ago today, we produced a tiny, helpless little creature.

We named him Shea, because it was the only boys name we could agree on. 

Fast forward, and even as his sister celebrates the milestone of one week of life, our little baby boy is turning three years old. 

I could fill the entirety of this blog with how amazing our son is. I'll suffice it to say that he is easily the best thing Lou and I have ever done, and as much as we are frightened and worried about what may lay in Harper's future, we can't wait to find out what lies in Shea's.

Happy birthday, boo. Mommy and Daddy love you lots!!

Well, no, duh...It's officially SLOS

So we got our test results back today. Harper has Smith Lemli Opitz. 7DHC = 188 micrograms, cholesterol (via gas chromotography) = 15 ml/dL

More on that later... but gives me an opportunity to share a link to this essay sent to me by another mom who had to deal with a tough diagnosis - hoping it speaks the truth:

Diary of a Mom: Welcome to the Club

The drive to the NICU always seems really long. It's not - no matter which route we go it takes about 20 minutes from Shea's school. But it feels like it takes forever.

Time in the NICU, in contrast, goes fast. And is this odd blend of manageable chunks and frustrating limitations. On the manageable side, we spent time with the speech therapist today, and Harper seemed to be making progress on her suck. Her tongue is very short and tends to bunch in the back - apparently common in SLO - but she gave us a couple of good sucks, bringing her tongue forward.

We also met with the physical therapist, about stretching exercises for Harper's feet and other physical therapy. On one hand, it seems pretty straightforward, and Harper has good flexibility, even in her poor, damaged little feet. Although we are still (frustratingly!) waiting on an orthopedic consult, both the neonatologist and the PT thought surgery was more likely than casting.

The frustration hit when I realized that a lot of the stuff they want us to do with Harper was stuff I did naturally with Shea at home as a newborn, or in baby yoga. Tummy time, hand stretching, etc. It all feels so forced and artificial in the NICU environment. Really made me want to unhook Harper from all the wires and just take her home.

Speaking of wires - Harper is still on oxygen, and they have been unable to wean her off. She's de-satting constantly, and her O2 seldom gets above the low 90s. Cause of this remain mysterious - more repeat chest x-rays showed nothing obvious, no signs of infection in her bloodwork, and they're repeating the echo, but it seems way too early for heart failure to be a problem. The speech therapist postulated her tongue may be causing some kind of physical obstructive issue, so we're going to experiment letting her sleep on her side some, to see if that helps.

She has a very cute new piece of tape on her nose to old her oxygen cannula in place.

I am sorely tempted to decorate the cotton puff holding her IV in place on her head. After a little skin time with mommy, she opened her eyes a bit several times, although we didn't actually manage to catch it on film. Well, on digital pixels. You know what I mean...

Test results are trickling in - confirmed the XY, presence of the SRY gene, nothing terribly exciting in the LH/FSH results.

Now about those confirmational cholesterol results...

Lou and I literally received the phone call from a resident about the early arrival of the 7DHC and cholesterol results as we were walking into an appointment with a counselor (we though if ever a time called for seeking professional therapy services, this was it...)

My first reaction was "finally!" Now we can get things moving with contacting Dr. Porter at NIH and getting a read on the severity of Harper's disease and what happens next. Then I spent time using up lots of tissue in the counselor's office. It wasn't until after that that it occurred to me that the cholesterol sounded low. Really low. And that that is bad news.

Doctoral level scientist that I am, I hit PubMed. So what do those test results mean?

We have no idea.

Well, not entirely true. The stupidly high 7DHC is what confirms the diagnosis of SLOS. Normal levels are something like 0.1-0.3 - ours, I'll remind you, was 188. So yeah, you might say that's high. But there's not a lot of correlation between clinical outcomes/symptoms/severity and 7DHC.

Cholesterol, on the other hand, is where it's at when it comes to measuring severity of SLOS. Or is it? Lots of the literature matter of factly states that anything under 18-20 mL/dL is associated with a high rate of infant mortality.

("How do you feel about that?", Lou asked. Crying, I told him I must be more bonded with Harper than I thought, because it makes me very, very sad.)

Other references suggest it's really 10 that is the threshold for not going to live past the infant stage. What I perhaps most believe is the review article that suggests that while the lower the cholesterol the worse the severity and likelihood of premature death, that is really true mainly in cases where you also have serious multi-organ system abnormalities.

That actually, so far as we know, doesn't seem to apply to Harper. She's got a (relatively mild) heart defect. And her reproductive tract is screwed up royally. But kidney, liver, and GI tract all look good. She's still tolerating her feeding well, although we're not pushing her too hard with it. Peeing and pooping totally normally. Her motor control seems pretty good and her hypotonia doesn't seem too bad.

So maybe the cholesterol finding won't be that significant. Although who the heck knows what's going on in that tiny little brian. We won't know until we talk to an expert.

As usual, it involves waiting - waiting to speak to Dr. Porter. The Wonderful Wizard of SLOS.

As for me, I am finding each day to be sadder and sadder. Combination of postpartum depression and what Lou refers to as "the shit sandwich we've been handed," I suppose. (Don't freak out, readers, I'm seeing a therapist...)

I cried after I read Shea his bedtime story of The Little Engine That Could (which he recited along with me from memory!) and glanced up to see the empty crib, with its brand new sheets and quilt, staring back at me.

I cried when I was forcing myself to eat a roast beef sandwich for dinner, because my kitchen is a disastrous mess and I'm just too tired to care. And because people keep asking me how I'm recovering from surgery, and I just want to scream, "Who cares how I'm doing? My baby is broken! My baby is sick, and I can't fix her. My pain doesn't matter compared to hers." And because it hurts when someone says, "Congratulations." And because the other parents get to take their babies home from the NICU and send back happy pictures showing how well they're doing. And those pictures are EVERYWHERE.

I cried because my breasts hurt, and I don't want to pump for the tiny baby who isn't here, and yet I do, because breastmilk is high in cholesterol, and maybe it will help.

And when I'm not crying I'm thinking about the calls that need to be made and the life that lays ahead and wondering if there was really any joy on the other side of the diagnosis, as people keep telling me.

I think Harper relates.

Mother of Shea

While Shea is allowed to visit Harper in the NICU, and has done so once, we're trying to keep his routine as normal as possible, which means preschool for him while we're off at the hospital. But we do want him to be prepared for the day, hopefully sometime soon, when she comes home, so we've been showing him pictures at night to remind him that his little sister exists.

He loves the pictures almost as much as loves my breast pump. although the machine is the clear winner.

Tonight I had a random attack of crying at the dinner table. "Don't cry," he said, immediately. "Why are you crying, Mommy?"

"I'm a little sad because baby Harper is sick," I told him.

Later, as we were looking at pictures, he asked when baby Harper was coming home. "I don't know," I told him, cautiously, hesitant to say anything about her getting better. "Hopefully soon."

I pushed a little further. "Shea," I began, "Baby Harper is very sick, and she might need a lot of our help taking care of her when she gets home."

"Yes," said Shea, "and then when she gets bigger, she'll get all better and then she can walk!"

My heart broke a little.

"Shea," I told him, "because baby Harper is sick, she might not walk for a long time."

"That's OK," he told me. "When she gets bigger, I will hold her hand, so she won't run away and then she won't get sick. Because I will hold her hand."

Best big brother ever.

If I accomplish nothing else in my life, I may very well be raising one of the kindest, sweetest, most delightful boys ever to walk the Earth. I am so very proud and lucky to be Shea's mom.

Half a step forward, one step back

The day began with lots of guilt. I really had this irrational desire to be at the NICU by 9 am, and as the  morning went on, it became increasingly clear that wasn't going to happen. Shea was being very needy - not difficult, just needed some parental attention -  which makes total sense. But I felt like I was dedicating my time to one child at the expense of the other.

Felt a little better when we got on our way. Made a phone call to a  recommended NIH contact,  not so much because I had a specific question,  but just for reassurance that there wasn't anything we were missing or not doing. Felt great walking into the NICU and finding they'd moved Harper out of the isolette and into a bassinet because she was holding her temperature so well. And finding she was up to 30 ml of milk in each of her feelings - moved up to the big syringe! Also had good news from the speech therapist,  who said Harper was making incremental progress and actually sucked a couple of times while she was working with her. Plus, the neonatologist suggested I try putting her to breast, so we got to have some cuddly skin time.

Things began going down hill from  there. Harper's tachypnea (rapid breathing) has gotten worse and she kept de-satting and setting off her pulse ox monitor. This seemed to get worsen when we held her, stressing her out, which didn't really help with that guilt thing. While I was off pumping,  poor exhausted Lou was yelled at for falling asleep in the rocker while holding Harper. Her eyes are back to red ans swollen, so no shy little peeks today. And we learned about some possible brain abnormalities detected on her MRI, as well as some potential credentialing red tape hassles getting Dr Porter  from NIH come see her.

In the end, our little girl ended up back on oxygen,  and they're worried she either has an infection and/or an partially collapsed lung. Feels like a big step backwards. Had a big breakdown in the NICU family lounge and seem to have lost all the optimism of then morning.

The one small ray of good news is that despite being plagued with an low milk supply for Shea,  I have lots of milk for Harper. I may not like this pumping thing,  but it does seem to work. 

Pump it up!

We met with the speech therapist today, and it seems pretty clear that Harper may never breast feed. She has a tiny cleft palate at the back of her mouth, and while normally kids with clefts do OK with breastfeeding, because the breast is soft enough to basically plug up the hole, if Harper's case the cleft may actually be too small and too far back for that no happen (natch!)

She also has a short tongue and little rooting instinct. So we're supposed to work on her rooting with a pacifier or nipple - hopefully get her to a point where she'll accept a bottle orally,

Like many things related to Harper, this makes me sad. I loved breastfeeding Shea. I loved those quiet night time hours today, cuddling with my boy. (OK, not all of them. I distinctly remember watching the clock and thinking "Are we done yet?) I loved lying in bed, nursing, and falling sleep in lazy afternoon naps together.

Somehow, I don't think the breast pump is up for a lazy afternoon nap.

Because, as much as I loved breastfeeding, I really hated pumping. Hated it. And yet here I am, hooked up to the damn machine. Moo.

In a completely unrelated note, I have to confess, while writing that earlier, very emotional post about wanting back the baby I didn't get, crying hysterically,  I typed, "I want my baby back" and then all I could think of was the Chili's commercial, "I want my baby back, baby back, baby back ribs...."

Even in the worst times, dark humor dwellls....

Remembering why I love being a mom

Tonight was all about a little Shea therapy. Making oatmeal together, snuggling to read a book, answering a million questions about my big boo-boo (c-section incision) and  breast pump, and remote controlled hockey in the basement. Which had me laughing hard enough to hurt my big boo-boo. Lots.

It was a wonderful evening with my boy and my Lou. And I could almost picture little Harper there, sitting in the bouncy seat, watching. Will she be running around the basement playroom with Shea one day? Maybe yes, maybe no. But she could certainly be part of our happy family. Felt a strong instinct to have a whole houseful of happy kids.

Also am reminded what really wonderful friends and family we have. The outpouring of support has been truly unbelievable. Every time I ask myself why, I need to remember how really blessed we are.

Meanwhile, I checked back in with the NICU and they're moving Harper to an open air bassinett! No more isolette, because she's holding her temperature so well. Hooray! She's still a little tachypnic (breathing fast), so they've given her some antibiotics, in case she's got a low lying infection. Hopefully, she'll tolerate them well.

Sweet dreams, baby girl.

Home again hysteria

When I'm in the NICU, holding Harper, feeling her soft warm body, letting her little hands hold my finger, staring into her sweet face, it all seems so easy. How can I not love that tiny little creature that we made? She's a baby, She's my baby and she's beautiful.

But now I'm home. And I can't stop crying. Crying for the baby I lost, the little normal child I planned to bring home. The problematic bean who was going to need lots of fixes - the heart, the feet, the NICU, but was going to be FIXED and would go on to live happily ever after.

I want that baby back. I don't want the child that will need endless hours of medical attention. That will never live independently. That will self-abuse, and bite, and hit, and not talk, or need diapers in elementary school, or all of the other terrifying things I've read about.

I WANT MY BABY. The one I dreamed about. The one who no longer exists. Please oh please oh please, why can't I have that baby back? Why isn't Harper that baby?

I don't think I can do this. Everyone says how strong we are, how strong I am. I don't want to be strong. I just want to be a mommy. Like I'm Shea's mommy.

Oh, Harper, why couldn't you have come home? So that when I feel like this I can look into that sweet face and remember that I'm supposed to love you. That you are still my baby.

I wish I could stop crying.

Baby blues!

Harper opened her eyes this morning!! Was amazing to see her looking at us! Heard from Dr. Porter at NIH. Hoping to have a consult soon.

Terribly sad to be heading home today without my baby.

And how is little Harper?

Enough about us, how's the baby?

Harper is stable and doing OK in many ways. She's been off oxygen since the first night, breathes on her own just fine. She is also holding her own temperature pretty well.

She has begun taking in food - donor breast milk, mostly, since my milk has just come in - via NG tube and seems to be tolerating it well, so far. Still a long way from being able to get everything she needs via the NG tube or being able to take food orally, although we're hopeful that will happen. She has a strong suck, and the speech therapist will come Monday or Tuesday to evaluate her slight cleft palate to see if we can find a way to feed her. Man, would I love to be able to breastfeed her!

Her biggest issue, nutrition wise, is getting an IV into her. They've been unable to get in a PICC line and the poor baby is covered in bruises from their attempts and because they keep moving her PIV line. It's currently in her head, which looks awful, but I'm assured it is a more stable place to put an IV.

Hopefully, they'll be able to get in a PICC line and spare her all of that painful poking.

Other potential worrisome issues - they're supposed to have done an MRI of her brain last night. There was some concern of anatomical abnormalities. Nothing we can do but wait for the results.

Something that's bother Lou and I is that we've been unable to see Harper's eyes. She has ptosis - droopy, heavy eyelids - and I suspect they'll need surgery to correct. We almost feel like we haven't met her yet, because we haven't seen here eyes. The ophthalmologist is going to come some time this week to evaluate her actual vision. We still don't know if our little one will be able to see or hear. :(

Also hopeful we'll get our NIH consult with Dr. Porter this week.

Beginning to find some answers

Last night, we began to focus on looking forward. Harper is stable in the NICU. We still don't know the severity of her condition, overall, but she is certainly not in immediate danger of dying.

And as part of our healing process, Lou and I needed to know what support was out there for us to make sure we can hold our family together.

In many ways, we were pleasantly surprised.

First, I can't say enough wonderful things - even in the 72 hours since I'd first heard of SLOS - about how amazing the SLOS family community is. Such a rare and difficult disease has created a close and caring community of affect families. I reached out and instantly was welcomed. I have already found them to be a tremendous resource, and Lou and I are both looking forward to getting to know them and their families as we go down this journey with Harper.

It also turns out that we're geographically well located for expertise and treatment. NIH and the Krieger Institute are two loci for SLOS knowledge, and we're within spitting distance of both. The fact that I lobby for NIH for a living us suddenly doubly comforting.

We've also discovered there are more resources out there for developmentally disabled children and adults than we ever imagined. In Silver Spring alone there are two excellent daycares, with health professionals, occupational therapists, etc. right on site. So suddenly we've begun to feel like becoming full time caregivers is not our only option. We've even arrived on the same page that if we need to hire a night nurse or other help at home, we'll do that. It's important to us to make sure our family gets what we need to support this major change.

And also on our list is finding support for Lou and I (and maybe Shea, too) to get through this. We've been gratified by the outpouring of support from family and friends, who've already given us many shoulders to cry on. I think professional therapy will be in our near future, too. Neither of us is very good at asking for help, but this clearly is a skill we need to learn. Fast.

How we arrived at Harper Merrick

It seems so long ago now, but I guess it was about 48 hours after she was born that we named our daughter, Harper Merrick Wolinetz.

Which required, of course, deciding she was our daughter. And not our son. We still don't have the endocrine data back, but the doctor's tell us it's unlikely to be very revelatory, in any event. But our little one, assuming she makes it out of the NICU, has many years of surgery in her future. Gender reassignment surgery seemed like a major and un-necessary medical procedure to subject our baby to.

Thus we went the path of least resistance - the outwards appearance of her anatomy. Thus, a little girl. Which was how all the NICU nurses were referring to her, anyhow - they are, of course, the ones changing her diapers!

It is definitely nice to refer to our baby as "her" instead of "it" or "the baby".

Will she require hormone treatment sometime down the road to help maintain a feminine identity? Maybe. That seems very far away in another universe. Right now, it just seems like the right way to go.

Because Harper turned our world upside down, we turned our list of names upside down, too. Because of the uniqueness of the situation, we wanted a more gender neutral name. Harper, which is a name I have loved for a long time, was something we'd strongly been considering as a middle name for a girl.

Marek is a male name that we had been considering for a boy. But it was important to us that the middle name of this baby honor Lou's grandparents. So we changed it to Merrick, which is the town on Long Island where they are from. It seemed to go perfectly with Harper and was again somewhat gender neutral. I actually had a female penpal named Marrick throughout high school.

Harper Merrick. It wasn't a name we'd planned, just as the circumstances were not as we planned. But it is a name that I love. Just as I am learning to love the little girl we've given it to.

That first horrible night

Oh, Dr. Google....

Lou and I began to read up on SLOS and two things became immediately clear. This was what our baby had. And it was worse than we could have possible imagined.

At its most severe: fatal. Even at it's best: seriously physically and mentally debilitating disease. Treatment? Not really.

I should note that it is not exaggerating to say that this scenario is Lou's worst nightmare. We had, in fact, done everything we'd thought possible to avoid this. MatniT21. CVS. Amnio. We would have terminated the pregnancy for a disease like this. But now we've got a baby.

This is a flavor of the conversation on that first, horrible night, in between sobbing and tears:

How could this have been missed? Was this someone's fault? Is this because we tried so hard not to find out the gender, that we could have caught it earlier if only we had looked at the genitalia and noticed the mismatch with the chromosomes? Should our U/S tech of genetic counselor have caught this? I personally was bugged the entire pregnancy by the presence of so many problems all together - heart defect, club feet, IUGR - should I have pushed harder for a root cause? Why did this happen to us? Are we being punished? Did I push too hard to have a second baby?

What are our options related to quality of life? This is hard to talk about, hard to write. That first night, Harper didn't have a name. She didn't have a gender. We had barely been able to touch her. And the suffering described on the internet seemed horrific. If she didn't die on her own, what did we need to do, what should we do, to keep this child alive? Is a feeding tube an extraordinary measure in an infant? Neither of us would want to be on a feeding tube for life, but are you even allowed to make that decision for a child? Would you bother doing heart surgery on a child that was that debilitated? Would a ventilator be necessary? What should we root for when reports come in from the NICU - that the baby was improving? Would we be better off if our baby was one of the severe ones who didn't make it? What kind of horrible people are we to think about our baby's death? What kind of monster mother am I for even thinking that? Am I a mother who made a monster? Whose quality of life are we really thinking about - ours or the baby's? And what about Shea's quality of life?

What is the baby's gender? Interestingly, this question was initially Lou's biggest hurdle. He just couldn't get past the irreconcilability of the baby's chromosomes and anatomy. And it was a huge hurdle to overcome, because the first question anyone asks when you have a baby is boy or girl? How do you have a conversation about a baby no longer in utero and call it "it"? How do you talk to other people about your baby and avoid the use of pronouns? I was all for taking the path of least resistance and calling the baby a girl. What did it matter, I argued, since this baby was not likely to have enough awareness for gender identity to matter? Lou wanted more information. He was hoping the ultrasound of the anatomy would give us some definitive answer (it really only told us the reproductive tract had not really developed) or that there would be a conclusion hidden in the endocrine results (we haven't gotten them back yet, but they're unlikely to tell us anything). I think he wanted so badly to make it matter, to believe our baby would live long enough and do well enough, that gender identity would make a difference. More on this, and how we made this decision, later...

Are we strong enough to handle this? I still don't know the answer to this question. This is the one that keeps sending us into crying jabs and panic attacks. The most frightening part of this to me is what the impact will be on Shea. Have we ruined his life? Although every parent probably says this, I truly believe he's about as perfect as kids come - healthy, happy, funny, smart, compassionate, handsome, sweet, everything we ever wanted in a child. His wonderfulness was a large part of the reason we decided to have another one. Would a severely disabled sibling irreconcilably change his life and our family for the worst? Had we just saddled him with a burden to bear for decades? Neither Lou nor I had ever wanted to be a full time caretaker for a healthy child, much less a sick one - would one of us have to quit our jobs to take care of this child? Could we afford to do that? Would we need to move to be closer to specialized medical care? Would we be able to survive this as a couple? Over and over and over again we asked ourselves: are we really strong enough to handle this? Again, no answer yet - and the question still makes me cry.

Time for another baby? It was amazing how quickly, even in those first terrible hours, Lou and I both leaped to the idea of having another child. We never wanted three kids. Never. Were both really happy when we saw only a single heartbeat on the ultrasound. I certainly never had the desire to be pregnant again. But something about the news about our baby's condition had us both immediately leaping to - we should have another baby. Try again. Maybe it's the instinct to try to right something we feel we did wrong. Maybe all the reasons we wanted to give Shea a "normal" sibling are still true, and maybe even truer. If this disabled child outlived us, did we want to leave Shea alone to deal with the burden by himself? Didn't we owe it to him to try to better fulfill our vision of the kind of family we really wanted? I should note the SLOS is an autosomal recessive disease. In other words, Lou and I both randomly happen to be carriers. So there's a 25% chance that any child we conceive would have the disease (and a 66% chance Shea is a carrier). Reproductive biologist that I am, I immediately began talking about IVF and PGD to make sure the next child does not have SLOS.

Will we have another child? I don't know. A discussion for another day, not to be made in the cesspool of emotions in which we are currently dwelling. But maybe just the fact that we're willing to talk about it shows we have more hope in the future than we might have believed.