Olivia’s Final Medical Story

July 11, 2016 7 Comments

Yesterday we shared the passing of our beloved daughter. Today, we want to share a little bit more behind her story.

On Tuesday, Olivia went for a muscle biopsy. Results from our recent advanced genetic screening found a “variant of unknown significance” in her TTN gene, which is responsible for the Titin protein in our bodies. Mutations on this gene could have easily explained her condition, since the Titin protein plays such an important role in how our muscles function. However, since the science of DNA is still developing and this specific mutation was never before seen, a biopsy was supposed to provide the physical evidence needed to confirm that mutation was the cause of her condition.

Instead, what we found was Olivia suffered from a rare form of Spinal Muscular Atrophy (SMA). SMA is actually a fairly common genetic diagnosis, but Olivia had what is called the “non-5q” variety. Non-5q refers to the fact that it’s caused by mutations outside of the common SMA-causing genes (chromosome 5, section q). This variety is very rare, hence the inability to diagnose it clinically or with our previous advanced testing. However, once they got a look at her muscle tissue, the diagnosis came in quickly.

The Wikipedia page for SMA is useful, but it doesn’t describe the non-5q branch at all. Her core team gave us this paper in Neurology which provided a helpful summary (going to work on getting a complete copy for here). In short, its prognosis is fatal and the life expectancy of infant onset is even poorer than SMA type 1.

We never confirmed if the TTN gene mutation also impacted Olivia. Her tissue sample was too atrophied by SMA to be conclusive. Also, systematically speaking, nerve firing causes muscle movement, so whether her muscles were healthy or unhealthy (from a TTN mutation) without SMA, didn’t matter much for the prognosis, because SMA affects the nerves leading from the spine to muscles. Our Titin explorations were looking at issues with the proteins forming the muscles directly, but in this case, they weren’t getting the full signals from the brain due to SMA.

Despite all this, we still have one test pending. While we know she had SMA and we know it’s non-5q, we don’t yet know what gene caused it and how/if it was inherited. To help us figure this out and also help our family planning all three of us had blood drawn on Friday for a whole exome sequence. Results will take a few months to be processed. We hope this data will also help future cases of her disease be diagnosed faster too.

In the end, while devastated with her prognosis, we were relieved to have a concrete diagnosis. Her case riddled so many medical professionals and labs that we worried we might be forever stuck with unanswered questions. As Dr. P said to us, her final gift to us was to let us know what she needed. She did that and she’s still a pink zebra.

Stories from Dad

Two Months: OT Report Card

June 25, 2016 4 Comments

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.
Cognitive/Emotional
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.
Language
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.

Sensory
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.
Feeding
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

COGNITIVE/BEHAVIORAL RESPONSES:
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

Area of body	RIGHT- AROM	RIGHT PROM	LEFT AROM	LEFT PROM
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

STRENGTH
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.

	Right Against gravity	Right Gravity eliminated	Left Against gravity	Left 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

FINE MOTOR
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

SENSORY
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.

GROSS MOTOR
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)

ORAL MOTOR
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.

Plan

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

Stories from Dad

Olivia & Dad’s Favorite Song

June 24, 2016 8 Comments

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.

Stories from Dad

One Month: OT Report Card

May 24, 2016 4 Comments

Olivia works with an occupational therapist, Meg, to help with her contractures and other muscular issues. She is fantastic and has been working with Olivia since the beginning (day of life 2).

Today, she dropped off a 30-day report card summarizing OG’s progress. It’s impressive. Take a read (note: this is not optimized for reading on your phone).

1-Month Report Card

Name: __Olivia Guerrero_ Age: _30 days

Developmental Stage		Appropriate Age Range	Current Status
Gross motor
Fetal position (flexed and midline)		0 to 2 months	Legs met, arms progressing
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 is showing increasing strength in her arms and legs and has typical movement patterns. She is trying to use her arms and legs age appropriately but sometimes gravity gets in the way
Fine Motor
Grasps finger		0 to 4 months	Met
Brings hands to mouth		0 to 4 months	Progressing towards
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	Not yet met
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 grasp anything that is near her hands. Her arm movements are smooth and coordinated but weak. She is showing increasing strength in her arms. She rarely looks uncomfortable with ROM anymore; however, she is starting to resist some range of motion.
Cognitive/Emotional
Makes needs known		0 to 3 months	met
Sooths when engaged with		1 to 3 months	met
Social smile		2 to 3 months	Not yet 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	Not yet met
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. She definitely knows her mom and dad and responds differently to them than to others in the room
Language
Cooing	1 to 4 months		Not yet met
Laugh	3 to 6 months		Not yet met
Turns to voice	2 to 4 months		Not yet met
Razzing	4 to 8 months		Not yet met
Language Notes: Olivia’s language is all non-verbal at this stage. She communicates her likes and dislikes with crying, facial expressions and movement. Once she gets her voice back, she will certainly have a lot to say
Sensory
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	Not yet met
may follow vertical movements better than horizontal		1 to 3 months	met
visual searching begins		2 to 4 months	Progressing towards
Regards hands		2 to 5 months	Not yet 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	Not yet met
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 is tolerant of touch and a little hypersensitive of movement.
Feeding
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; however, she does have a more consistent gag, a consistent suck and consistent lip closure. She enjoys oral stimulation even if it causes her to have increased secretions.
Summary: Olivia is a sweet baby who is working on a variety of age appropriate skills and has shown significant improvement over the last month. 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 increasing and she can now move her fingers, wrist, elbow and some shoulder movements against gravity (when she wants to). Her lower body is also gaining strength; she has normal strength for flexion of her knees and hips and is starting to show active extension. Her visual and social/emotional skills are on target and her oral and gross motor skills are limited not only by her neuromuscular condition but more by her need for a ventilator.

Blog Updates, Stories from Dad

Olivia’s Updates – Making Following Easier

May 19, 2016 1 Comment

Mom and I are working to make things a little easier for Olivia’s fans. Our first goal is to make it less of a task to know when we’ve added new content. We’ve heard that some of you are actively “refreshing” the site to look for updates and that just can’t be fun.

You can now subscribe to Olivia’s story to receive email notifications whenever we publish a new post. You can register (and unsubscribe) by going to olivia.lukeandwhitney.com/notifications. Also, whenever you comment on a post, you’ll be given the option to subscribe as well. Both do the same thing.

We’re working on a few more improvements, too. So, feel free to suggest.

Stories from Dad

Olivia’s Story: What We Know

May 17, 2016 6 Comments

My sweet, sweet, daughter, Olivia. I love her so much.

Every time she opens those big, innocent (and blue!) eyes, I fall in love all over again. I dream of all things I want her to experience, and I think of how far she has come since those early hours on April 24th.

An hour after birth, following continuous “bagging” and eventual intubation to keep her frail body breathing, a medical transport team whisked her from Highland Hospital to the Strong NICU. Before leaving, they rolled her isolette into the delivery room, where Mom & I sat still in shock, to let us say hello for the first time, and goodbye. Sadly that was not the first time we thought we might lose her, but given her birth, her state, and all physical objects surrounding her, this time it felt more real.

It was the first time Whitney has ever seen me cry.

We arrived in the NICU a few hours later, and saw her again from outside her room. She had made it. Her bedside was surrounded by a team of doctors and nurses. The attending doctor stepped out to give us an update, noting that “based on her observable condition, she may only have a few hours or days”.

She’s come so far since those early hours.

However after three weeks, I feel it is important to zoom out for a minute.

Although we cheer every poop, minor change in ventilator setting, and decimal size reduction in bilirubin, we feel it important to admit that no matter how strong she is, Olivia may not be able to overcome this battle. This is not new, nor is it something Mom and I feel is taboo to talk about. We’ve even shared this (in one way or another) with most of you during your previous visits.

So, what do we know?

We know Olivia suffered serious injuries during delivery, but feel relatively confident that these issues are behind her.

The larger, more complex truth is likely an underlying genetic disorder.

This was one of the hardest things for me to accept. During Whitney’s first trimester screening at 12 weeks pregnant, an abnormal NT scan revealed a cystic hygroma on the back of Olivia’s neck. We consulted with a doctor, met with a genetics counselor, and decided to immediately pursue further testing. Mom underwent a chorionic villus sampling (CVS) procedure which removes cells from the placenta to be tested for chromosome abnormalities and other inherited disorders. We waited 5 hard weeks for those results, during which Mom and I contemplated a lot of serious outcomes. This was the first time we thought we might lose her. Even after receiving “normal” results from the CVS, DNA microarray test, anatomy scan, and fetal echocardiography, it took us a while to believe that we were still having our baby. It was an incredibly difficult time.

So, when the doctor’s immediate conclusions at birth suggested possible genetic issues, I was reticent to believe it. After all, the vacuum assisted birth caused significant bleeding in and around her skull, mustn’t that be the cause? But, we now know this is not the case, and in hindsight there were a few indications of this truth, starting with the abnormal NT scan.

While not a clear picture yet, Olivia has presented a number of clues which are helping the genetics and neuromuscular team work towards a diagnosis:

Her breathing is weak and she can’t breathe on her own.
Her skeletal muscles are weakened or non-existent. And while not paralyzed in the traditional sense, she can’t actively move much beyond her fingers and her toes.
Her liver isn’t working correctly (as first indicated by high direct/conjugated bilirubin levels), which could ultimately lead to failure.
Her digestive track isn’t working correctly. She’s not actively processing feeding and relies on TPN intravenously for nutrition.
She had temporary kidney issues (SIADH), but at least those resolved.
She has a moderate ventricular septal defect (VSD) or a small hole in her little heart.

What does this mean?

In medical terms, we do not yet know if we’ll get differential diagnoses (multiple, unrelated issues) or a unifying diagnosis (a single, diagnosable disorder that makes sense of her multiple symptoms). Said differently – everything described above could be related or they could be independent. Understanding the diagnoses (unifying or differential) is important in determining which of symptoms to focus on, which will get worse, and which we have a chance of treating.

To figure that out, in addition to the neonatologists at the NICU, we have specialists from the genetics, neurology, GI, renal, and pulmonary teams consulting on Olivia’s case. There seem to be more every day. These teams continue to visit and asses Olivia, and each have ordered a number of tests which allow us to rule out (or confirm) possible causes. Currently, the leading area for a possible diagnosis is from the neuromuscular team. We are working with an internationally acclaimed pediatric neuromuscular specialist (referred to as Dr. C in our updates).

Dr. C suspects (via clinical observation) Olivia has a syndrome of the peripheral nervous system (PNS). This means that her brain and spine (CNS) are producing and sending the right signals to control her body. But, somewhere in the nerves or the muscles, those signals are not getting to their final destination. [Edited to note: Olivia’s muscle biopsy later revealed this long held assumption to be incorrect. You can read more about her final diagnosis of Spinal Muscular Atrophy.]

The range of possible conditions in this area is vast and not easily diagnosable. Some are rare – having only 60ish confirmed cases in the world – while others are commonly known. She’s not an obvious shoe-in for any.

Dr. C is working closely with Dr. F (genetics) to piece together the symptoms and clues Olivia has so far presented in order to narrow in the search for potential causes. They have ordered a next-generation sequencing of her genome to look at the 127 genes known to express PNS related conditions. There is a real possibility, however, that even with all the progress of modern technology, DNA testing at this level is still a few years away from being able to isolate her condition. Dad, the ever wanna-be futurist, knows this all too well.

The other reality is that the outcomes for plausible PNS conditions vary wildly. Just like our first NICU attending told us in the hours after her birth: there are some real chances that Olivia won’t make it. In fact, every time we’ve seen a new doctor here, they take a moment to make sure that Mom and I understand that. We appreciate their frankness.

Of course, there are also survivable and more favorable outcomes. Technology – a la permanent ventilation (or tracheal tube), feeding tubes, and other in-home care options – may provide an enjoyable quality of life with some these. She could also recover from all this one day (OK, that may be Dad just wishing). And who knows: gene therapy, stem cell regeneration, and other advanced technologies could present possible “cures” in the future.

As of now, we can’t draw any conclusions. And we won’t. Mom and I continue to provide daily updates, where we choose to celebrate every poop, every yawn, and every day with Olivia. But we are informed of our possible realities, and we want you to be too.