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?

A week of firsts. Good days and bad days.

It's been a whirlwind past couple weeks. Many firsts have happened since our last post.

We spent the first night in our new home. After a lot of stress with coordinating move logistics and closing paperwork, we have officially moved in to our new house. I can't tell you how excited we are to finally be settled.

Sadie spent her first full night in her crib. Up until now, she had just been taking naps there. Call me a paranoid parent, but I had her sleeping overnight next to us in her pack and play for the first five months of her life. With all the changes in seizure meds, etc., I wanted her next to me should anything happen overnight.

Developmentally, Sadie has seen some very good progress. She is reaching for toys with both hands. She had previously only been using her right hand, as her left side of her body is weaker due to the more extensive damage on the right side of her brain. Sadie transferred a toy from her left hand to her right - a task her therapists said may be difficult given her missing corpus callosum (the part of the brain that connects the left and right hemispheres). She is also grasping her bottle with both hands!

Sadie also discovered that she loves to play peek-a-boo, and on rare occasions, she will giggle, which makes her mommy extremely happy. Although, every time I try to capture it on video, she becomes decidedly quiet.

We had our first meeting the neurosurgeon this week to discuss Sadie's MRI results. Overall, he said there is nothing to be concerned about at this point. She will have another MRI in January to continue to monitor the brain tumor, called a choroid plexus papilloma.

Later this month, Sadie will go in for another overnight EEG to monitor her brain activity. We are hopeful that this EEG will show some improvement in the seizure activity in her brain. Sometimes, seizures can occur in the brain, but show very little in terms of outward characteristics.

Sadie will also have her first ERG (Electroretinogram), a test designed to test the visual function of the eye. We hope that we will finally get a definitive answer on whether or not she has any vision in her right eye. The test will also give us information about her peripheral vision, as peripheral vision loss is a potential side effect of one her seizure medications.

There are also a number of "firsts" that we're anxiously awaiting.

Sadie is still working on her head and neck control. We, along with her therapists, continue to give her a lot of tummy time to help strengthen her neck and back muscles. We look forward to the day when she can hold her head up independently.

Personally, we are working on how to respond to questions we get about Sadie, something we've struggled with since Sadie's diagnosis. How do you respond to innocent comments from strangers like...."Is she sleeping thru the night?" "Is she sitting upright?" or "Just wait until she's running around." While I'd rather not lie, the truthful answers or responses seem too heavy for this light conversation. The honest answer would be..."No, she doesn't sleep well because her seizures wake her up every 3 hours." So, in the meantime, we put a fake smile on our face and give our generic reply - "She has good days and bad days."

Overall, the "first" we most look forward to is Sadie's first seizure-free day.

What does it mean for Sadie? The hard truth and the possibilities.

Most people are aware that Sadie has been diagnosed with Aicardi Syndrome. However, most people are not aware of what this means for Sadie. As difficult as it has been for us to come to terms with her diagnosis and prognosis, here is the hard truth...

What is it?

Aicardi syndrome is a rare genetic disorder, with approximately 800 reported cases in the US. Aicardi Syndrome affects only girls, with the rare exception of boys with Klinefelter Syndrome (XXY chromosomes).

Aicardi Syndrome's "classic" markers are:

1. Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which allows the right side to communicate with the left.) Sadie has complete absence of her corpus callosum.
2. Infantile spasms (a form of seizures). Yes, Sadie has these as well.
3. Lesions or "lacunae" of the retina of the eye that are very specific to this disorder. Sadie has a number of lacunae on her right retina. Her left retina contains only a few scars.
4. Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue). Sadie has cysts in brain as well as a tumor called a choroid plexus papilloma.

What does this mean for Sadie? Or in medical terms - "What's the prognosis?"

At this point, it's very hard to say - as the old saying goes, "time will tell". Symptoms don't usually become pronounced until several months of age, and as of this writing, Sadie is still quite young. Generally-speaking, though, the range of outcomes isn't terribly great.

•Moderate to severe developmental delays
•Eyesight ranging from simply "less acute" to near or even complete blindness. At this point, we believe that Sadie will have good vision in her left eye, but may not have vision in her right.
•Seizures on a regular basis (multiple daily are common)
•Shortened lifespan (median ~18 yrs; average of &10)

Additional complications can sometimes include:

•Scoliosis
•Gastrointestinal & feeding issues
•Respiratory problems

It's possible that Sadie will be non-verbal and may require a wheelchair for mobility. While she is currently eating quite well (see Exhibit A :), Aicardi girls have the possibility for regression, which means any achievements could be forgotten (i.e. her ability to eat, hold her head up, etc.) Many girls with Aicardi are fed via feeding tubes.

What does it mean for Cathy & Adin?

We will continue to have good days and bad days. Sadie's diagnosis has been a good reminder to take things a day at a time, and enjoy life and small achievements. Sadie could surprise us all, or things might go exactly according to "average prognosis". The doctors might end up dead wrong on their diagnosis, or they might end up being exactly right. While it is heartwrenching to write this post, it is the hard truth and we'd rather be prepared then blindsided.

So, we'll continue to take things one day at a time. We'll continue to do everything we can to maximize Sadie's potential, while not placing limits on it. We'll stay positive and be strong and celebrate all Sadie's accomplishments, no matter how small.


P.S. Thanks to Daniel and Kim - another family who is blogging about their daughter Evelyn's experience with Aicardi Syndrome, from whom we borrowed for the format for this post. Click here to read their blog: