two months.

theme song.

But for you who fear my name,
the Son of righteousness will rise
with healing in His wings.
And you shall go forth again,
skip about like calves
coming from their stalls at last.

You shall be my very own
on the day that I
cause you to be my special home.
I shall spare you as a man,
as compassion on his son
who does the best he can.
Malachi 4:2

overachiever.

tuesday.

pin likes pink.

Back to the basics: Now, faith is...

by Jeremy

Now faith is the assurance of things hoped for, the conviction of things not seen. Hebrews 11:1 (ESV)

I've been contemplating this verse in the New Testament a lot over the past several weeks. One of the hardest things about this journey is simply trusting in the Lord for a good outcome. On one hand, we recently were given encouraging news. On the other, we continue to see seizures; in recent days, the number of these seizures has actually increased. Let me just say that watching the latter of these is NOT easy to deal with. But I guess that is the essence of faith- that if the outcome regarding Pinny's seizures were certain, how much faith would all of this require of us? And not just faith in the doctors' judgement. Please pray that our faith in the Great Physician would continue to increase.

rainy day.

Good News from Smart People

Just to set the context on what we learned at the Cleveland Clinic (see previous blog entry on the whole experience, which was impressive), epilepsy is a very complex brain disorder in which the seizure itself is usually an outward manifestation of a serious underlying root problem. It’s very important to find the underlying cause of the seizures because in many cases, doctors can customize medication to attack a specific area of the brain that is over-excited. However at the same time, modern medicine unfortunately has much to learn about epilepsy; we have been told the same stat by several different doctors: doctors (even the best) only identify an underlying cause about 50% of the time.

With this backdrop, the top 3 causes of seizures (some of which are not technically “epileptic”) are:

1. Brain injury (think head trauma or a baby’s brain being deprived of oxygen at birth);

2. Genetic/metabolic disorders (a mistake in the DNA that instructs the body to process/create energy incorrectly); and,

3. Illness/substance abuse (high fever, mom’s drug addiction impacting the baby, etc.).

The process by which physicians troubleshoot epilepsy is by putting all three of these things, as well as their associated symptoms on the table, and then start to pull options off the table that do not offer a good match for a variety of reasons.

The first thing Dr. Elaine Wyllie did with us was listen to Steph and I tell our story for about an hour; then she inspected Pinny’s medical records from her previous hospital stays. Immediately, Dr. Wyllie eliminated #1 as an option based on the MRI taken several weeks ago; #3 also does not apply, although I can only empathize that drug temptations likely abound on account of the fact that Steph lives with me…

That leaves the genetic/metabolic category of epilepsy. Now if you remember, we had previously been given a diagnosis of a rare genetic/metabolic disorder (called glycine encephalopathy) that was proven false. However, there are hundreds of identified metabolic disorders; and I am told there are likely thousands that have yet to be discovered.

This is where Dr. Parikh and his team came in. He is a metabolic specialist that often gets called in as a “field expert” to drill down further on this particular angle. They look at blood, spinal fluid, urine tests, the physical appearance of the baby, looking for elevations/deficiencies of certain amino acids, neurotransmitters, and/or other things to find if the body is generating energy incorrectly.

Here is how he set the context for us: Our DNA is like a volume of complex books, consisting of 30,000 chapters and as many as 3 TRILLION letters. If there is a typo of ONE of those letters, it can instruct the body to any number of dysfunctions. Modern medicine over the past decade has made significant progress in comprehending these volumes, but there is still a TON of work to do; even the computing power required to analyze our DNA remains a constraint. This is one key reason why we often only get answers on epilepsy 50% of the time.

In the opinion of Dr. Wyllie, Dr. Parikh, and many other members of the team that we didn’t meet but were consulted, among the things left on the table, the condition that they believe is most likely is what is called Benign Neonatal Convulsions. Two things that do not totally fit with this diagnosis (1) this condition is typically genetically inherited, so there is often a family history that exists, and (2) Lucca's EEG was a little more abnormal than is typically the case with BNCs. However, since we don’t know anything about my dad’s line, since her EEG is still within the bounds of BNC, and since she is largely normal aside from the seizures, they thought this was the best-fitting, most-likely diagnosis at this point.

Now, if your newborn is unfortunately having seizures, without question this is the condition you want her to have. With BNCs, while any seizures are scary, the word benign is instructive. The medical community does not totally understand why, but the seizures naturally subside within 6 months. And while there is a substantially higher probability of the child developing another epileptic disorder later in life (i.e. ~20% chance versus ~2% without), there is no significant difference in the occurrence of developmental problems than versus non-seizing newborns.

To be clear, this is not a definite diagnosis. And when I say “most likely” I do not mean a 50% chance; rather, if there are 10 things left on the table, this one maybe has a 25% probability, and the others maybe have an equal probability divided up among the remaining 75%... what is left on the table that is less likely? A series of rare metabolic disorders that would be progressive in nature. Obviously this would be a lot more concerning than the benign ones, as it would imply Pinny would not progress or worsen from today.

But still, this is HUGE! We had previously been told the benign seizure types were not likely at all. Now we have elite pediatric neurologists not only telling us BNC is possible, but that it is also the most likely diagnosis. Hope is such a delicate thing in a situation like this where you see disturbing seizures almost every day; but this is unquestionably a reason to strengthen our hope for a good outcome.

Where do we go from here?

Well, there are still a cadre of tests still pending. Some of these are general genetic tests that I am told effectively look for “missing paragraphs” in the 4 “chapters” relevant to epilepsy; there are also 4 tests that will be done that look to confirm/deny the existence of specific genetic defects (two of which relate to BNC). Some of these tests go to Europe and can take 8 weeks.

So we pause and hope for the best.

Also, Dr. Wyllie believes a drug called Topomax will be more effective in the types of seizures Pinny is having. It will take a few weeks for this drug to ramp in her system, although we believe we are seeing some positive impact already. We will also add a few specific vitamins where there could be some metabolic deficiency, and maybe down the road start to wean off of phenolbarb.

As I said earlier, thanks so much for your support. How can you pray from here? A few things. Obviously continue to pray that God heals Pinny in a way that is unambiguously the work of His hand. Second, the drugs would stop all seizures; in the “bad” conditions, seizures are often not controllable. Third, that future tests would disconfirm the bad epileptic conditions and confirm her condition is benign. Fourth, please pray for normal development to continue.

Take care, Jeremy

pin & papa.

The Cleveland Clinic

In 1906, famous Italian economist Vilfredo Pareto observed that 80% of Italy’s wealth was distributed among only 20% of the population. This 80/20 principle, known as Pareto’s Law, has since found application in many areas within the world of business/finance; for example, in manufacturing, while it’s relatively easy to fix 80% of process/product defects, the last 20% often take considerable effort.

This is Jeremy by the way…I promise you Steph would not ramble about economic theory in a blog about her daughter… or any blog... And...I digress…

What we have learned in recent weeks is that there is a similar corollary in medicine. The vast majority of the time, your doctor (or someone he/she can refer to) can provide very adequate medical care. However, in the small percentage of times in which you have a very serious medical need, there is often a world of difference between “average” medical care (or even “above-average”) and that which is provided by the elite within the medical profession.

Without a doubt, what Steph, I, and Pinny experienced over the past week at the Cleveland Clinic was elite care. And as you have been reading, elite care was needed, as Pinny’s seizures have continued – and in some respects intensified—despite the exclusion of the glycine encephalopathy/NKH diagnosis. In my view, because so much of a child’s developmental potential becomes (at least as I understand it) hard wired in the first months and years of life, and because many of the underlying causes of neonatal seizures can disrupt/halt/damage this development, we needed to figure out what was causing these seizures ASAP.

At any rate, the experience at the Clinic was amazing. This metaphor probably does not do the Clinic justice, but the clinicians there are all like elite athletes that not only make to the pros but also make the all-star team. Only they are saving and improving peoples’ lives—not entertaining us.

We chose to go to the Clinic due to a recommendation that Dr. Elaine Wyllie is simply the best, most-experienced pediatric neurologist within driving distance. Supporting her is an impressive team of sub-specialists that are also the best of the best in areas such as genetics, metabolism, etc. Virtually everyone we interacted with… the physicians, the NPs, the nurses, the techs, et al… were not only excellent clinicians but were also diligent, thoughtful, approachable, humble (despite their distinction) and caring.

And everything done at the Clinic seemed a step above what we were used to… people responded to emails, EEG leads are dutifully measured out to the right spots, techs constantly monitor whether patients are hooked up correctly, nurses rush in to help when parents alert that a seizure is occurring… The campus itself is an impressive spectacle. The organization is set apart operationally; people and processes that make things happen efficiently. I could go on. Even the cafeteria was quite good!

The following is what we hoped to get out of this experience:

1. A second, more-experienced, and comprehensive set of eyes to look at Lucca’s case; perhaps there was something in the troves of data already accumulated that was missed;
2. Their process/direction/strategy to properly diagnose Lucca’s epilepsy (i.e. have we ordered all the right tests? What epilepsy causes are still on the table; which are eliminated?);
3. A re-evaluation of Lucca’s meds, as the previous regime in our view was less than optimal;
4. And… while probably unrealistic… a firm diagnosis and treatment path for Lucca’s epilepsy.

They delivered on 3.5 of those 4. I will spend the next blog talking about what we learned (hint: it's good news). But for now, I’ll leave it at this: the Cleveland Clinic was immeasurably valuable to us. Hopefully you never have to go there, but it is a special place. Thank you so much of all of you for the prayers, calls, texts, cards, emails, voice mails, etc… These things were the emotional food we needed to get through the week.

pin and rosie.

our own teletubbie.

cleveland clinic.

six weeks old.