72 Days Old: A Baptism, A Long Walk, and the 4th of July

Some days in the NICU are quiet days, and others are so full of activity and events and fun that it makes it hard to summarize in a single update to friends and family. Today was one of those days.

First, and most importantly, this morning we were joined by Father Mike from our church and Olivia was baptized. It was a short, but special ceremony, with just Luke, myself and our nurse Inna as a witness. We didn’t pick out a traditional baptism gown, but we did get Olivia ready in her best dress!

She looked like a angel. A perfect, little, sleepy angel.

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After the morning’s event, Olivia snuck in a snooze and a hold with Dad, before venturing outside for… get this… the 3rd day in a row! Late last week word began to get out that we were really itching for Olivia to see a bit of the world beyond her NICU room. The staff knew how much we wanted to take Olivia outside, and have graciously allowed us to do so every day this weekend. It takes extra equipment and extra staff, but with everyone on board it’s been such a gift.

We have some of the funniest pictures (and videos) of Olivia’s outdoor adventures, so we’ll share another post with our favorites soon. For now, here are some from today’s trip.


Olivia had even more visitors this afternoon. Mike and Jen met us outside and joined us for a stroll around the garden before a mini-meltdown made us decide to head back inside.

Jen came bearing gifts, which I’m going to keep as a surprise until the time is right to share them with you all. I’ll give you a hint: both items will help Olivia check off items from her bucket list! And by her bucket list, I mean, all of the things we want to make sure she experiences, despite being in the NICU.

Last but not least, since today is a holiday (and Aunt Bey’s birthday!), Olivia was subjected to another one of Mom’s holiday photo shoots. Per usual, she slept through the activity.

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Olivia Meets a Flower

In recent weeks, Luke and I have been having more and more conversations about Olivia’s fate. What will her life look like? How long will she be with us? Will she come home?

The possibility that she may pass away before ever leaving the NICU – no matter how unbearably sad that is for us to imagine – is real. And no matter how many times I’ve been encouraged not to get ahead of myself… not to think about outcomes yet… to stay in the here and now… I can’t. I don’t.

Ultimately, I go there. Usually multiple times a day.

I think about things like how she may never feel the fresh air, or feel the sun. I think about how she might never enter our home, never spend a night at home with Mom and Dad. She may never wear a Halloween costume, or see Santa. I think about all the friends and family members she may never meet. The places she won’t be able to visit with us.

Some things I think about are silly, like Halloween costumes and Santa. Some are sad, like meeting family members, and visiting places that are special to us.

Others are just downright innocent: the warmth of the sun, the feeling of sand beneath your toes at the beach, the way the air starts to smell differently in the fall.

And while not every innocent thing can be bottled up and brought to Olivia, some certainly can. So I’ve decided to do just that. Even if it means sneaking things in and breaking NICU rules. Dr. V – if you’re reading this, no fair telling on us!






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Pink Zebras


There’s a saying in medicine, that goes something like “When you hear hoofbeats, think of horses not zebras.” If you’re unfamiliar with the aphorism, as both Luke and I were before Olivia was born, Google it later. For now, just stick with me.

See, in the world of medicine and diagnoses, there are horses. And then there are zebras. There are the more common, obvious diagnoses. (Those are the horses.) And then there are the zebras: the unexpected, the uncommon, the rare. The saying itself is actually directed towards medical professionals, and it has to do with the process (and risks) of reaching a diagnosis, but that’s not the point right now.

The point is that there are some conditions that are common, and some that are rare.

In Olivia’s case, it’s like we’re searching for a zebra on the streets of Western New York. For two months, she stumped the hospital’s top geneticist and top pediatric neuromuscular specialist. Time and time again they would visit her room, assess her, pick up on physical anomalies and point out new “clues”, but left telling us that she didn’t seem to fit the mold of any one particular disorder. And these people are no slouches! These are the specialists whose colleagues describe as “the encyclopedia of genetics”. Another team member described one by saying, “he’s the kind of guru who can diagnosis a child with a very rare disorder while still standing in the doorway, before he even walks into their room. Literally.”

To stump the best of the best is quiet impressive, little girl.

The gene sequencing seems to have confirmed it. Olivia’s symptoms are all relatively common when compared to some families of neuromuscular disorders. Muscle weakness, respiratory complications, the facial features… But the specific gene mutation identified in the test has never before been described. Never.

Olivia Grace, meeting you is more special, more unique, more truly one-of-a-kind than encountering a zebra on the streets of Rochester. 

All of this is particularly intriguing to me. Intriguing, and ironic, and magical all at the same time. Because of this piece of art above. I began looking for inspiration for Olivia’s nursery in December. I originally wanted something classic with a splash of sass. I didn’t want the room to be filled with anything overtly girly, or baby like. I wanted the room to fit in with the rest of our house, and for those of you who have never seen our house: there is not one ounce of pink. Well, the direction of her nursery took a drastic turn. It is absolutely overtly girly, and filled with things that scream “nursery”. It is so clearly a baby’s room, and there is far too much pink, and most items will be outgrown, but oh well. I went there and I kind of love it so it is what it is. Baby girls will do that to you, I guess.

Back to the intriguing, the ironic, the magical part.

The photograph above was the start of my vision for Olivia’s nursery. It’s called Hot Pink Zebras by Gray Malin and it was the first item that I pinned on my secret Pinterest board for inspiration. I had planned on buying it and hanging it nicely centered over Olivia’s crib, and it was meant to be the starting point of her nursery… the focal point of her entire room.

Pink zebras strutting across a field. 

I fell in love with this photograph, because I didn’t want to fill my daughter’s room with princesses and pink hearts and butterflies. I didn’t want to cast any stereotypes or expectations on her. Instead, I wanted to tell her she could go anywhere, do anything, be anything she wants to be in this world. That she should feel no boundaries, no limits in the world. That her life, her world could be as big and interesting and unique as she could dream up. I wanted to tell her that anything was possible, even being a pink zebra.

Well, I didn’t buy the photograph. Turns out that poster sized photographs by Gray Malin are expensive. But I didn’t let go of the idea of pink zebras. A pink zebra is still a focal point in her nursery.


And now here we are, searching for answers – that in the world of horses and zebras, are most definitely of the zebra type. When days are hard and my head is filled with sadness and my heart is overcome with grief, I like to think about the idea of pink zebras. I love thinking about Olivia as a one-of-a-kind gal. And I tell myself it’s almost as if I knew just how special Olivia was going to be, even before she was born.

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68 Days Old: Daily Update

We’ve had a few nice, uneventful (in the good sense), and fun days around here. We survived Dad’s first business trip since Olivia was born (although we did miss him terribly), Nana and Grampa Prior visited, and Olivia and I had lots of girl time. She’s now spending multiple hours at a time out of her crib, either in her bouncy seat or playing on her boppy lounger in our arms, she’s tolerating PT and OT sessions really well, and her alertness and overall cognitive capabilities seem to be changing daily. All of which make for good, good days. The kind that make us momentarily forget about the bad days, forget about where we are and why, and forget about what lies ahead.

Speaking of which, her muscle biopsy has been scheduled for next Tuesday, July 5th. Yesterday we had been told it was going to be mid July, but this morning we got word she’s been scheduled in for next week! This is awesome news, as we already feel like we’ve been waiting for a long time, and otherwise we would have been waiting another long and likely intolerable two weeks.

So between now and Tuesday we don’t expect many changes to her usual regiment or daily plans. Just days of hanging out, holding, playing, and hopefully long naps!

Probably pretty sick and tired of these afternoon photo shoots!
Probably pretty sick and tired of these afternoon photo shoots!
Not too sure about this mohawk business...
Not too sure about this mohawk business…
Thursday morning quiet time with Mom... getting ready for nap time.
Thursday morning quiet time with Mom… getting ready for nap time.
Who better to swing by a children's hospital window, but superman himself!
Who better to swing by a children’s hospital window, but superman himself!
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66 Days Old: Daily Update

Olivia seems a bit more like her usual self today. Full of ‘tude and facial expressions that tell us exactly what she’s thinking. Yesterday’s lab results came back normal (meaning she likely does not have an infection), but an x-ray did show quite a bit of atelectasis in the right lung. We increased her ventilator settings overnight, and as of this morning’s x-ray the lung looks to be fully recruited again. So, the couple of tough days we experienced Sunday and Monday were likely due to her lungs struggling… just because of their usual things, rather than being an indication of an infection. Good news she doesn’t have an infection, bad news that we can’t blame her lung challenges on something else other than her myopothy…

Other things: her Tuesday labs looked good. The liver enzymes that have been elevated for the past month or so finally began trending down as of this week, and her bilirubin level is basically normal, for the first time ever! Her total bilirubin was 1.2, with a direct bilirubin level of 0.9.

We were visited by Dr. Pegoli today. He’s the pediatric surgeon that will do Olivia’s muscle biopsy. It was nice to see him again and have an opportunity to ask him a few questions about the procedure. His answers and demeanor once again reinforced that this is a very minor procedure (relatively speaking), and that it’s a very common procedure in his world. We still don’t have it scheduled, but hopefully we’ll get a date confirmed shortly.


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65 Days Old: Daily Update

We had a great weekend with Olivia. Friday was full of new activities, and Saturday was a nice long day with Mom and Dad. We had lots of girl time, which Mom soaked up. Sunday started off on a good note as well. We visited for a couple of hours in the early morning, before stepping out to celebrate our goddaughter’s baptism. Hi Emma!

Sunday evening Olivia started having more respiratory events, which continued throughout the day today. Last time her events started acting up like this, we later realized she had an infection… so the team was concerned that she may be getting sick again.

We ordered an x-ray, loads of blood work, and a urine sample this morning, but all initial reads look normal. Since she’s continued to struggle a bit today, Dr. P is recommending we increase her ventilator support overnight to let her rest and ensure she has fully recruited both lungs.

Not a ton to share otherwise. We’re still waiting for her biopsy to be scheduled, and in the meantime are hoping she starts to feel better soon. Watching your little one fuss and cry and struggle all day is no fun!


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Two Months: OT Report Card

It’s that time again. Below is Olivia’s 2-month report card from Occupational Therapy (see here for the one month). It’s thoroughly detailed, as always with Meg.

The short version (from Dad) is that she’s doing well on the sensory side and has hit most of the age appropriate, cognitive milestones. Overall, she’s still pretty weak and doesn’t move her arms and legs against gravity (due to muscle weakness). She is showing some signs of progression, albeit slowly.

Occupational Therapy Report

Name: Olivia Guerrero                                                               Age: 60 days

Developmental Stage Appropriate Age Range Current Status
Gross motor
Fetal position (flexed and midline) 0 to 2 months met
Involuntary/reflexive muscle movements 0 to 2 months met
In prone head up only 0 to 3 months Not yet met
Kicks feet when on back 0 to 3 months met
Head steady at shoulder 1 to 4 months Not yet met
Will weight bear on legs 1 to 4 months Not yet met
In prone head up to chest 1 to 4 months Not yet met
In prone head up to forearms 2 to 5 months Not yet met
In prone head up with extended arms 3 to 6 months Not yet met
Rolling front to back 3 to 6 months Not yet met
Bounce in weight bearing 3 to 6 months Not yet met
Rolling back to front 4 to 7 months Not yet met
Sitting with support 4 to 7 months Not yet met
May rock back and forth on hands and knees 4 to 7 months Not yet met
Sitting independently 5 to 9 months Not yet met
Gross Motor Notes: Olivia is working on increasing her tolerance for play in a variety of positions. Her endurance is improving and allows her to engage in more play. She has increased strength in her arms and legs and has typical movement patterns. She is more consistently able to use her arms and legs age appropriately. She is tolerating sitting up with support and makes some effort to hold her head up. She brings her hands together in sidelying and is active in supine. She settles down for a nap when in prone.
Fine Motor
Grasps finger 0 to 4 months Met
Brings hands to mouth 0 to 4 months met
Hands intermittently open/closed 0 to 4 months Met
Plays with feet and brings feet to mouth when on back 3 to 6 months Not yet met
Holds toy actively 3 to 6 months Progressing towards
Clasp and unclasp hands in finger play 3 to 6 months Progressing towards
Bats at objects 2 to 5 months Not yet met
Holds objects at midline 3 to 6 months Not yet met
Bilateral Reach 3 to 6 months Not yet met
Transfers objects 4 to 7 months Not yet met
Fine Motor Notes: Olivia is using her hands more and will bring her hands together and to her face. Her hands are more open than closed but she can make a fist. Elbow flexion is easier than extension and wrist extension is easier than flexion. Her arm movements are smooth and coordinated but weak. She rarely looks uncomfortable with ROM anymore; however, she does resist some range of motion at times.
Makes needs known 0 to 3 months met
Sooths when engaged with 1 to 3 months met
Social smile 2 to 3 months met
Cry when upset to seek comfort 2 to 6 months met
Responds to familiar caregivers 2 to 6 months met
Show excitement by waving arms & legs 3 to 6 months Not yet met
Likes to look at and be near people who are special and significant in their lives 3 to 6 months Progressing towards
Smile at herself in the mirror 3 to 6 months Not yet met
Pay attention to her own name 3 to 6 months Not yet met
Resists end of game 4 to 6 months Not yet met
Social/Emotional Notes: Olivia is aware of the world around her. She uses her non-verbal communication to let us know what she likes and does not like. This now involves kicking in addition to crying. She has a variety of facial expressions that she uses to let us know how she feels. She definitely knows her mom and dad and responds differently to them than to others in the room.
Cooing 1 to 4 months Progressing towards
Laugh 3 to 6 months Progressing towards
Turns to voice 2 to 4 months met
Razzing 4 to 8 months Not yet met
Language Notes: Olivia’s language is all non-verbal at this stage; however, even with the tube in place she is starting to do mouth and facial movements associated with pre-cooing.
Stares vaguely at surroundings 0 to 2 months met
can follow a slowly moving target intermittently to midline 0 to 2 months met
learning how to shift their gaze from one object to another without having to move their head 1 to 4 months met
Can focus on objects up to 6′ away 2 to 4 months met
may follow vertical movements better than horizontal 1 to 3 months met
visual searching begins 2 to 4 months met
Regards hands 2 to 5 months met
Can follow a visual target the size of a finger puppet past midline, and can track horizontally, vertically, and in a circle 3 to 5 months Progressing towards
visually aware of the environment 4 to 6 months Not yet met
can shift gaze from near to far easily 4 to 6 months Not yet met
Convergence is developing 4 to 6 months Not yet met
Eye-hand coordination (reach) is achieved 4 to 6 months Not yet met
Sensory Notes: Olivia is visually responsive to her environment. She looks between people talking over her bed and watches people move around the room. She will turn her eyes to find a new voice or sound. She is tolerant of touch and movement.
Suckle pattern on bottle 8-10 sucks 0 to 1 months Not yet met
Lip closure on nipple/pacifier 0 to 2 months Met
Able to maintain suction on pacifier without external support 1-2 months Not yet met
Feedings via nipple 2 to 5 months Not yet met
Tongue orientated to midline 2 to 5 months Not yet met
Feeding Notes: Olivia’s oral skills are limited by her respiratory support and secretion management. She continues to have a gag, a consistent suck and consistent lip closure. She does not always like oral stimulation but she can do it. She has found that she likes to suck/chew her fingers. She is now able to help bring secretions forward in her mouth though they still pool at times.
Summary: Olivia is a sweet baby who is working on a variety of age appropriate skills. Her contractures are non-existent in her upper body with her passive range of motion being within normal limits. Her contractures in her lower body are improved as well though she continues have some decreased range of motion in her knees and hips. Her upper body strength is about the same she can now move her fingers, wrist, elbow and some shoulder movements against gravity (when she wants to). Her lower body has gained strength; she has increased strength for flexion and extension her of her knees and flexion of her hips. Her visual and social/emotional skills are on target. Her oral and gross motor skills are limited not only by her neuromuscular condition and by her need for a her ET tube/vent and sensitivity to tube placement.


6/24 – Daily Report

Occupational Therapy
6/24/16 Girl Guerrero was seen today for ROM, positioning, and oral stim
Current Status:  no new medical changes
Birth Gestational Age: 38w2d
Corrected gestational age: 46w 6d
Age (d): 60 days
Hospital: LOS: 60 days

Level of alertness: Alert and responsive, age appropriate interaction
State: Active alert, Quiet alert, drowsy
Able to Achieve Quiet Alert State: Yes
Responds to stimuli: Age appropriate
Signs of stress: Cry, fidget
Able to self sooth: yes

Overall UE posture Arms at sides, elbows partially flexed, wrists extended, hands loosely fisted. Fingers active
Shoulder 1/4 extension and abduction and flexion full range 1/4 extension and abduction and flexion full range
elbow Full range flexion, 3/4 range extension full range extension and full range flexion Full range flexion, 3/4 range extension full range extension and full range flexion
wrist Extension full and flexion to neutral Full extension and near full flexion Extension full and flexion to neutral  Full extension and near full flexion
MCP full flexion/extension except the 5th digit full flexion/extension except the 5th digit full flexion/extension except the 5th digit full flexion/extension except the 5th digit
IP full flexion/extension except the 5th digit. 5th digit remains contracted full flexion/extension except the 5th digit
5th digit remains contracted
full flexion/extension except the 5th digit. 5th digit remains contracted full flexion/extension except the 5th digit
5th digit remains contracted
thumb 1/2 flexion and abduction Full range 1/2 flexion and abduction Full range
Overall LE posture Hips abducted and externally rotated, knees flexed, ankles neutral or dorsiflexed, toes neutral
hips full range flexion, 1/2 range abduction/adduction, 1/4 range extension full range flexion, 1/2 range  extension, full abduction and full adduction full range flexion, 1/2 range abduction/adduction, 1/4 range extension full range flexion, 1/2 range  extension, full abduction and full adduction,
knees full range flexion, 1/4 range extension full flexion, 1/2 range extension full range flexion, 1/4 range extension full flexion, Near full range extension,
ankles 3/4 range 3/4 range  plantar flexion 3/4 range,  3/4 range  plantar flexion
toes full range full range full range full range

Olivia appears to have more strength and activity in her distal muscles (fingers and wrist) compared to proximal muscles (shoulder/hip). Her right arm seems stronger than her left and her left leg seems stronger and more active than her right.

Against gravity
Gravity eliminated
Against gravity
Gravity eliminated
Shoulder None Partial flexion and extension abduction and adduction None Partial flexion and extension abduction and adduction
Elbow Flexing and partial extension. Stronger than left Extending Flexing and partial extension Extending
Wrist Full extension and partial flexion Full extension and partial flexion Full extension and some flexion Full extension and partial flexion
Fingers Full extension and flexion Full extension and flexion Full extension and flexion Full extension and flexion
Thumb Partial flexion and extension and adduction More adduction and abduction Partial flexion and extension and adduction More adduction and abduction
Hip Full flexion, partial abduction, partial adduction, partial extension Full flexion, half adduction, half abduction and some extension Full flexion, partial abduction, partial adduction, partial extension.

Stronger than right

Full flexion, half adduction, half abduction and nearly full extension
Knee Full extension and flexion Full extension and flexion Full extension and flexion Full extension and flexion
Ankle Full extension and flexion Full extension and flexion Full extension and flexion Full extension and flexion
Toes Full extension and flexion Full extension and flexion Full extension and flexion Full extension and flexion

Hands: Loosely fisted and grasp/flex is improving, wiggles fingers often. Strong wrist extension and resists flexion.
Arms: Bilateral upper extremities at sides when in supine. When in sidelying, she brings hands to mouth. Resists writer removing hands from mouth or placing them there if she does not want it.
Grasp Pattern: Able to hold a ring for ~30-90 seconds depending on positioning

Eyes: Open throughout the session but will close them when she is tired. They move together and are responsive to light, movement, and visual stimuli
Visual: Demonstrated focus and looking between stimuli. Briefly tracks vertical and horizontal, high contrast toy and looks between faces
Auditory: Responses to sounds in room. Looks to voices
Tactile: Responsive to ROM and repositioning.

Supine with Zflo support for midline play
Sat up with support. Attempted to contact neck muscles. low tolerance for sitting up (only ~5-8 minutes)

Secretion management: Mild pooling of secretion in mouth, no pursing lips or pushing secretions forwards when upright
Lips: Mostly closed at rest and with oral stim. Mouth active. No smile
Jaw: closed or relaxed when supine, hangs open in sitting and fasciculation
Tongue: Active in mouth, cupping of tongue with sucking,
Palate: High arch
Suck: Biting and sustained active sucking on own fingers – no brady desat with oral stim today.
Rooting: No rooting noted today – may be outgrowing reflex
Swallow: Observed intermittently during sucking
Gag: Stronger and more consistent

Intervention/treatment: PROM of LE, positional play, sensory stimuli and oral stim, parent education and support
Assessment: Infant has slowly progressing motor skills and low physical activity level for gestational age.


Frequency: 4-5 times per week
Discharge Recommendations: Early Intervention, carbed, adaptive seating options, HOB and crib adaptations for trach/vent
Multidisciplinary Communication: RN

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Two Months Old

Guess who’s due for a celebration today? Olivia Grace is, that’s who.

Now 21″ long and just over 7lbs, today Olivia celebrates her 2 month birthday. Technically, in the medical world, she’s “on day 61 of life” but by our standards she’s 62 days old and today’s her monthly birth “day”. To celebrate, she spent the morning with Mom and Dad, dressed in her birthday best: an outfit with green animal print and glittery gold hearts.

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In the afternoon – after a snooze in Mom’s arms – we got even more crazy, first with a little play time in a “crib gym”, and later was her first time in a bouncy seat.

First up: crib gym time. The voice in the video is our occupational therapist Meg, who is helping Olivia interact with the toy by propping up her arm. This helps “remove gravity” for Olivia, which makes it easier for to move her extremities on her own.


Afterwards, when it came time for a field trip to the bouncy seat, we positioned the seat on the floor along the windows, so little miss Olivia could catch a glimpse of the great outdoors!  As I sat with her, I couldn’t help but think about how she’s 2 months old now, and never even been outside. She’s never really seen the sun or laid on the lawn or felt a rain drop. It made me think of a JJ Heller song that I’ve grown to love (lyric below) and I sure hope Olivia loved staring out the window as much as we loved giving her the opportunity to do so. Little does she know just how big the world outside room 15 really is!

“It’s a big world, baby, big enough to dream, you’re not too small to do great things”.

It’s worth noting that taking Olivia in and out of her crib is quite a production and always runs at the risk of sending her into a bit of a tizzy, so we’re very thankful for the nurses and therapists who are willing to do it for the sake of these great “normal” child development opportunities.



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Olivia & Dad’s Favorite Song

Olivia has longer fingers than most kids (which is considered to be part of her condition). This often leads nursing to call her a future pianist. When she’s awake, she entertains herself by energetically wiggling them.

Since birth, Olivia and I (this is Dad writing) have been studying the ontology of classical music in our alone time. Although the so-called “Mozart effect” has been debunked, it has been fun to jog down memory lane. My parents enriched a lot of my early life with music. We went to the New York Philharmonic frequently as kids, and I picked up the trumpet for a brief stint (sadly, putting it down for “social” reasons).

One morning, bored with Baby Mozart, I began searching for “modern classical” and came across Yanni. My family had his “Live at the Acropolis” album when I was growing up and I must have listened to it a gazillion times.

I played it for Olivia and she loved it.

Over time I’ve found our favorite song to be “Until the Last Moment” and she and I listen to it daily. It can bring about a smile or a snooze from Olivia, and often a tear from Dad. I can’t easily describe how it makes me feel other than to say it’s beautiful, like her.

Yanni himself describes the song as meaning:

Life is precious. All of life.  One must try to take in as much of it as much of it as possible.

This meaning really hits home for me. Back in May, when attempting to return back to work, I described my reasoning as to why I was coming back to work to a good friend and a close mentor of mine. I said “we don’t know how long she can make it, and if she doesn’t, it’s going to be really hard on us and I’ll want to be there”. Thankfully, my friend pointed out the flaw in that logic – spending time with her while she’s with us is more important than mourning her after. He shared the following passage:

And the Lord struck the child that Uriah’s wife bore to David, and it became ill. David therefore pleaded with God for the child, and David fasted and went in and lay all night on the ground. So the elders of his house arose and went to him, to raise him up from the ground. But he would not, nor did he eat food with them.  Then on the seventh day it came to pass that the child died. And the servants of David were afraid to tell him that the child was dead. For they said, “Indeed, while the child was alive, we spoke to him, and he would not heed our voice. How can we tell him that the child is dead? He may do some harm!”

When David saw that his servants were whispering, David perceived that the child was dead. Therefore David said to his servants, “Is the child dead?”

And they said, “He is dead.”

So David arose from the ground, washed and anointed himself, and changed his clothes; and he went into the house of the Lord and worshiped. Then he went to his own house; and when he requested, they set food before him, and he ate. Then his servants said to him, “What is this that you have done? You fasted and wept for the child while he was alive, but when the child died, you arose and ate food.”

And he said, “While the child was alive, I fasted and wept; for I said, ‘Who can tell whether the Lord will be gracious to me, that the child may live?’

Samuel 12:15-22

That frame of mind has dominated my thinking ever since, I’ve focused more on spending time with her here and now, and we’ve really enjoyed our time together.

So join us and have a listen, if you so please. When we listen, we follow along to the piano part (which Yanni plays himself). Olivia will sometimes mimic the pianos dynamics (make sure to have your volume up parts gentle) with her little hands. It’s the cutest.


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61 Days Old: Genetic Test Results

First a little update, then a big one.

To start, the little lady packed on the pounds over night, and is now officially a 7 pounder. Her overnight weight was 3,230g (7.12lbs) which is just about 2 lbs up from her birth weight. She’s still way, way low on the growth chart, but any growth is good growth for us.

For the big update: earlier this week MNG Labs completed the Next-Generation sequencing that we ordered in May. We met with Olivia’s core team, along with the pediatric neuromuscular specialists on Tuesday to discuss the results.

Unfortunately, despite sequencing nearly 200 genes that are most commonly associated with known neuromuscular disorders, the panel came back “indeterminate”. In other words: the test did not provide us with an official diagnosis, and we are still unable to associate a name… a specific disorder… something well known and understood… to Olivia’s condition.

The panel did however identify mutations on two of the analyzed genes.

  1. One mutation is being disregarded as benign, as it’s on a gene that isn’t responsible for anything that fits within Olivia’s clinical picture.
  2. The other mutation is of much more interest to us and her team, because this specific gene is understood to be closely related to an important part of muscle function (Olivia’s primary issue).

This mutation is incredibly rare, in fact never seen before, so it is considered a “variant of unknown significance”. But… based on: the gene’s role in muscle function, the type of mutation (“likely pathogenic”), and Olivia’s clinical picture… it’s seemingly significant.

In order to more confidently confirm that Olivia’s myopothy is in fact a result of this gene mutation, she’ll undergo a muscle biopsy. A muscle biopsy is a relatively small procedure in the realm of pediatric surgeries, but it is still a surgery. Under a microscope, muscles affected by various myopathies have fairly distinct appearances, and depending on whether something atypical is observed in her muscle sample, Olivia’s team may be able to officially connect the dots between this mutation and how it’s impacting her muscles.

If they are able to connect the dots, Dr. C (the pediatric neuromuscular specialist we’ve been working with here at University of Rochester) will have the data points she needs to begin consulting with other specialists in the field with more of an expertise on this particular gene. One doctor in particular works out of NIH, and has dedicated his career to studying this one, specific gene!

Over the next couple of weeks as Olivia’s biopsy takes place and we learn more about what these test results mean for her, we’ll keep you all up to date. In the meantime, here’s today’s installment of: a snoozy, sprawled out baby.





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