Olivia’s Final Medical Story

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

View More: http://photos.pass.us/oliviaguerrero

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.

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73 & 74 Days Old: Muscle Biopsy

Yesterday morning Luke and I arrived at the hospital at 6AM. Olivia’s muscle biopsy was scheduled for “first case”, which is set to start at 6:30AM. Prior to her being called to the operating room , we had brief visits from a surgical resident, and an anesthesiologist resident. Both provided us with an overview of what their teams would be doing, and were prepared to answer any questions we had about the procedure.

She was eventually “called” down to the OR just before 7:00AM.

Transporting a baby from the NICU to anywhere else in the hospital is a bit complicated, especially when the baby is ventilated. We knew this from Olivia’s prior trips downstairs. Once for an MRI, another time for the HIDA scan. The transport consisted of her nurse, a respiratory technician, a NICU fellow, and the anesthesiologist resident. Luke and I were able to travel downstairs with Olivia and the team, but had to say our goodbyes just inside the surgical waiting room.


Thankfully, I found saying bye far less traumatic and emotionally draining than I had anticipated. A quick kiss and a squeeze and we were off.

The procedure was pretty quick, and went well. Taking the muscle sample was met with no complications, and Olivia had no negative reactions to the anesthesia. The fact that she would be going under anesthesia was more risky than the procedure itself, because people with myopathies can experience a range of adverse reactions to certain anesthetic drugs used during surgery. Certain ones can cause potentially fatal reactions, one being malignant hyperthermia, which refers to a dangerously high increase in body temperature.

The pediatric anesthesiologists were aware of this potential complication, so they took a series of specific precautions designed to (1) mitigate the likelihood of it occurring and (2) prepare the room should it occur.

But that didn’t happen, and the procedure went fine, and the tissue sample was “checked in” to the hospital’s pathology department yesterday… so now all we do is wait for results. We’ve been told to expect a turnaround time of anywhere from 2-3 days, to 2 weeks, so we are once again planning to practice being patient.

After the procedure, Olivia returned to her room wide awake and wiggly. Not the sedated and sore picture that we had expected!

The recovery from the procedure is minimal. She has an incision on her left upper thigh, but the list of things to avoid is short. No baths for 3-5 days. No physical therapy for 2-4 weeks. She isn’t on any pain medication, and the team doesn’t expect her leg to bother her much. She’s still kicking and stretching it out, and we’ve been touching and lifting it to change diapers, positions, etc. without much fuss.

She slept quite a bit yesterday, but besides that, she’s pretty much back to her usual self.


Today we did start her 2 month vaccines, which will be given in a series of 3 shots, spaced out over 6 days. She barely flinched when she received the first shot, and hasn’t cried or fussed since, but we’re now on the watch out for a cranky baby!

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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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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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