The Things You Never Wanted To Know

Parenting is a learning curve. All new parents understand the frustration of figuring out how to care for a new baby, whether it be the meaning of different-sounding cries, recognizing the "poopy-face," or how to assemble those darn Dr. Brown's bottles. However, parenting a child with special needs is a whole other ball of wax. There are quite a few things I've learned since becoming Sadie's mom that I never thought I'd need to know, nor ever wanted to know.

Here is a sampling:
- How to check for placement of an NG tube
- The names of the parking garage cashiers at Children's Memorial Hospital
- mg per kg calculations for Sadie's medicines
- How to put a regulator on an oxygen tank
- The definitions of fancy medical terms like hypsarrhythmia, hemispherectomy, and corpus callosum
- How to turn a hospital chair into a bed

Last week we were introduced to yet another thing that we never wanted to know. I've mentioned previously that a few of Sadie's doctors have questioned whether she has a metabolic or mitochondrial disease in addition to Aicardi Syndrome. Thus far, all the initial testing has come back negative. During our visit to Cleveland Clinic last week, we met with a doctor who specializes in this area. Despite the initial testing coming back negative, he explained that he strongly believes that an additional mitochondrial diagnosis does exist. He equated the initial blood and urine tests to fishing in a pond. Sometimes there are a bunch of fish there, but you don't catch any.

The problem with mitochondrial disease is there isn't a foolproof way to diagnose it, nor are there great treatment options. Diagnostic tests in order of least to most effective include: spinal tap, skin biopsy, and muscle biopsy (cutting a 2-3 inch incision in the thigh to extract about 1 cm of muscle). But even the muscle biopsy can miss a diagnosis 20% of the time. If they DO find that Sadie has a mitochondrial disease, treatment would include a vitamin regimen and some additional supplements to help the mitochondria function more effectively.

So...you're probably asking, what does this mean? Mitochondrial disease is scary stuff. Back to Biology 101, the mitochondria in the cell convert food into energy. When they don't work properly, kids get sicker faster, have a harder time recovering, eventually cells start dying, organs fail...you probably can fill in the rest.

So where does that leave Sadie? The doctor explained that some parents of medically-complex kids just decide to let it be an unanswered question. They just don't want to put their child through the diagnostic tests that may or may not yield results. Other parents do all the testing. Adin and I aren't yet sure what we'll do.

We went to Cleveland seeking some answers about pursuing brain surgery for Sadie, and left with a whole other set of questions. The initial feedback from the doctors is that a mitochondrial disease would not prevent them from doing surgery. There would be additional precautions the docs would take during surgery.

In deciding whether or not to do surgery, a few things the doctors said really hit home for us both. The neurosurgeon said that it is unlikely that the part of the brain they are proposing to remove (right frontal and parietal lobes) is doing anything besides causing seizures due to the extent of malformation. When discussing risks of the surgery, the the head epileptologist pointed out that yes, there are risks to the surgery, but there are also risks to having uncontrolled epilepsy for a lifetime.

So, we are going to pursue brain surgery for Sadie. It hasn't been an easy decision, but we feel like it is her best chance of gaining some seizure control. And, even if we see little or no improvement, at least we will know that we tried everything we could to give her a better quality of life.

In the meantime, we are letting the news about the additional mitochondrial disease settle in before we decide which diagnostic testing we'll pursue, if any. Yet another thing we never wanted to know...but we'll get through it. What would you do it if was your child?

In The Weeds

As a former waitress, when things were starting to spiral out of control, you'd say that you were "in the weeds." If you were lucky, coworkers would help out until you were in a more comfortable place.

We're on week three of Sadie's ACTH treatment. While the steroid seems to have gotten Sadie out of her every-five-minute-seizure-pattern, she is still "in the weeds." We've gone from seizures every five minutes to seizures every fifteen minutes - still not a great place to be. You know things are bad when medical professionals (epileptologists, even) look at you in amazement when you tell them the number and duration of seizures she has, as well as the numerous medicines and treatments she is on.

We've started making some slow changes with her medicines. We're finally starting to wean her off of Vigabatrin - a medicine she's been on now for a year. The jury has always been out on Vigabatrin. We initially thought it was making things worse, then after a few weeks, she got better...but she had also started the ketogenic diet around the same time. Of the four seizure medicines she is currently on, Vigabatrin has the most severe side effect - potential vision loss - and with Sadie's existing vision impairment in her right eye, it's the logical choice to start weaning first.

On a parallel track, we've also started testing to determine whether Sadie is a candidate for brain surgery. After talking with few other parents of children who have undergone hemispherectomies, we've started an initial conversation with Cleveland Clinic, who has a great epilepsy center and neurosurgeon who specializes in the surgical procedure.

In Sadie's situation, we have epileptologists, pediatricians, dietitians - all helping to get Sadie out of "the weeds." But no matter how hard we tug, we just can't seem to get her to where she needs to be. We'll simply keep trying.

Desperate Measures

Since my last blog post, Sadie's seizures have gotten significantly worse - the twitching episodes are now happening every 2-5 minutes. After giving Diastat 3 times in 48 hours, we felt uncomfortable managing the seizures at home, and decided that she needed to be in the hospital. Upon our arrival to the ER, Sadie was given a dose of phenobarbitol to calm her brain activity. The medicine completely knocked her out. We were hopeful that it would give her some much-needed rest and seizure relief while allowing for the prednisolone to take effect.

Let me backtrack...after 10 days of crazy seizure activity (every 5 minutes,) we decided to start a steroid treatment, prednisolone. We had previously rejected the steroid route due to their intense side effects - suppressed immune system, irritability, increased blood pressure, weight gain, etc. Also, steroids are typically a short term treatment and sometimes the seizures come right back once treatment ends. Well, after dealing with seizures all day long, we were desperate for anything that might help.

So...back at the hospital...once the phenobarb wore off, Sadie's seizures returned. It seemed that the more mild steroid treatment (prednisolone) was not working. Time to call in the big guns. Desperate times call for desperate measures. Sadie starts her ACTH treatment tomorrow. ACTH is another steroid treatment that we had previously dismissed due to all the scary side effects listed above as well as a high mortality rate due to illnesses contracted because of a suppressed imune system. It was a difficult decision, but we feel like we need to give this a try for Sadie's sake. Our list of options narrow and the choices after ACTH are pretty shitty (excuse my french)...and would include possible hemispherectomy (removing part of Sadie's brain.)

I hope the day is close in the future when I will be able to share some positive news. Thanks to everyone for your contiued support.

P.S. The photo above is my view from my hospital chair...where I get very little sleep.