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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24 Days Old: Evening Update


Olivia had a busy day. She got visits from GI (our friend, Megan), cardiovascular (Dr. Porter and his fellow), OT (Meg), and neuromuscular (Dr. C).

Dr C. and team came by to let us know we’ve been approved for the specific genetic testing she ordered. We signed off on the paperwork and they’ll draw the blood tonight. They’re using MNG Labs. She’s going to call the lab at the end of the week for a timeline.

The cardiovascular team came by to explain her VSD. We learned that it’s in the muscular region of her lower chambers. This means she could out grow it as muscle in her heart forms. The team was extremely thorough in their presentation to us. Apparently, Mom and Dad have a reputation for asking a lot of tough questions.

Mom got some swaddle time in with Ms. Olivia to wrap up the day.

Finally, in other news, Dad is back on vacation from BN. I’ll probably write a little more on this later, but, in short, I want to spend time with Mom and Olivia while we figure things out. Work was extremely accommodating.

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Olivia’s Story: What We Know

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:

  1. Her breathing is weak and she can’t breathe on her own.
  2. 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.
  3. Her liver isn’t working correctly (as first indicated by high direct/conjugated bilirubin levels), which could ultimately lead to failure.
  4. Her digestive track isn’t working correctly. She’s not actively processing feeding and relies on TPN intravenously for nutrition.
  5. She had temporary kidney issues (SIADH), but at least those resolved.
  6. 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.

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19 Days Old: Evening Update

Busy day in room 15.

After morning rounds, Olivia had a visit from mom’s girlfriend Heather. She brought along some special treats, include a snazzy pair of sandals for Olivia to wear one day. Heather helped Olivia gaze at a new book, and kept her engaged in some overdue girl talk.



Around 1:30PM our nurse packed up Olivia’s things and took her downstairs for the HIDA scan. She did great during transport, had no respiratory issues, and came back to her room a couple of hours later. She’ll need to go back downstairs for part 2 of this test tomorrow, and then results will be at least a few days out.

While Olivia was downstairs, the palliative care team stopped by to talk to mom. This team (consisting of an MD and NP) will be a part of Olivia’s primary team moving forward, and this was just an introductory talk.

After the HIDA scan, we had the long awaited visit from Dr. C who recently returned from a trip to China. The assessment was thorough. Olivia cooperated and woke up for the latter part of the assessment, so Dr. C and her team were able to see Olivia awake and alert. Dr. C recommended a genetics test as the next step, which we think may be ordered fairly quickly (in the next day or two). Unfortunately, this is another test that takes a few weeks to run and analyze, so we are not expecting quick results.


Respiratory wise Olivia did great all day on the same settings described this morning. Her feeds continued after the HIDA scan at 1 ML per hour. And we had a poop at noon (with a little help from a suppository).

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