Tuesday, August 31, 2010

What a week...And it's only Wednesday

We finally thought that things were leveling off. Sadie's seizures had been decreasing since being on the ketogenic diet. Pre-diet she was having between 15-20 clusters of seizures a day consisting of 80-100 spasms per cluster. Post-diet she now has between 3-7 clusters a day with 20-50 spasms per cluster. We never thought we'd be happy to say that our daughter only has 5 seizures a day, but I suppose it's all relative, right?

The dietitian and neurologist are still tweaking meds and diet ratios a bit to see if we can get more seizure control. The unfortunate thing about seizure meds is that it takes time to see the full effect of the medication, and if it doesn't work, it then takes time to wean off the medicine - stopping cold turkey can be dangerous. So, needless to say, this process can be arduous.

Last week of August - we were happy to finally have a week without a doctor appointment - the first time since Sadie's birth! Unfortunately, Sadie had other plans for us. On Monday, she began to cry inconsolably. After about four hours of her crying out in pain, we took her to the pediatrician, who recommended we head down to the ER at Children's Memorial.

The ER doctors did a battery of tests - bloodwork, urine sample, ultrasound to check for kidney stones or some sort of blockage. Everything came back negative, and Sadie was still quite unhappy.

Finally, the doctors decided to take out the conformer in her eye and check for a scratch. When the opthamologist pulled out the conformer, they found the problem. She had a corneal ulcer on her eye. Basically, this can happen when your eye gets irritated or scratched and the scratch fails to heal itself. The doctors told us that it can be quite painful. Damn conformer. So, Sadie is now on medicated drops to clear up the ulcer.

Two pieces of good news since the last update. We *think* insurance will be covering Sadie's KetoCal formula. It only took 10 phone calls and three letters of medical necessity. I'm still sceptical until I actually see a paid claim.

Second, we bought a house! Yes, the same day Sadie went into the ER, we made an offer on a home in Des Plaines, IL. The home search has taken some time due to a few limiting factors. We were only looking at one-story homes due to Sadie's potential for mobility issues. Many of the ranch-style homes available were built in the 50's or 60's and haven't been updated much since then. We wanted something updated with a more open floor plan. Second, we were looking for easy access to a Metra station for Adin's commute, as well as a suburb that was close to downtown for our visits to the hospital. Luckily, we found a great updated, one-story house that fit all of these criteria. We're happy to finally be in our own home again after a year of renting.

The adventure continues...anyone up for helping us move at the end of September?

Monday, August 23, 2010

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:

•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:

Monday, August 9, 2010

Sadie's first act of rebelliousness

Sadie was baptised at the end of July. We figured that if the seizure meds don't work, perhaps holy water will!

Sadie has been on her new diet for over a week. We've seen a slight decrease in seizure activity. She has good days and bad days. The docs tell us that it may be a month before we see the full effect of the diet.

We've also been battling with our insurance company, United HealthCare, because they don't want to cover Sadie's new formula, KetoCal. Even though we've provided them with letters of medical necessity from our doctors, they seem to think it is a dietary supplement rather than a prescribed medical treatment. I have a feeling this will be the first of many battles with insurance.

We traveled back to the ocularist to get her new conformer put in her right eye. The conformer is a clear plastic shell that fits over her eye. It looks great, and she seems to be tolerating it very well.

Sadie also started some of her therapies this week. Her occupational therapist worked with her on grasping objects, turning her head and taught me some exercises to work on with her. She also had an evaluation with her vision therapist this week. I told the therapist that she didn't seem to be swatting at toys above her head on her playmat. We set Sadie down to observe her, and in her first act of rebelliousness, she promptly swatted both toys hanging above her head. Let's hope she continues to prove Mommy wrong!

Tuesday, August 3, 2010

From bad to not so bad. Yay for ketones!

The last week of July things went from bad to worse. Sadie had been on vigabatrin, her new seizure medicine, for about two weeks. The medicine seemed to have an adverse effect, as her seizures started INCREASING. Each time the doctor would increase her meds, her seizures would go up. The increased medication was also making her drowsy. By the last weekend in July, her only awake time was when she was having spasms.

We were on the phone with the neurologists every day talking about scary remedies, from administering diastat (an emergency medication given rectally to stop seizures), to admitting her to the hospital to begin ACTH, an injectable steriod treatment. We had already decided that ACTH had too many scary side effects for us to try, one of which is possible death. So we were stuck with a baby who is constantly having seizures.

On top of the seizures, Sadie had a conformer put in her eye last week, and the conformer ended up scratching her cornea. Back to the ocularist to get it taken out, and then to the opthomologist to get medicated drops. Ugh. If only I could get paid for coordinating doctors appointments.

Needless to say all of this was super stressful. We were at the end of our rope when the hospital called to tell us they were able to get her in to start the ketogenic diet right away. Sadie was admitted on Monday. She received her first bottle of KetoCal (a special ketogenic formula) on Monday night. It smells like a vanilla milkshake. Sadie loved it...but of course she's never turned away food. We anxiously awaited the arrival of ketones in her urine, which indicates that the diet is working. I don't think I've ever looked forward to diaper changes as much.

Monday and Tuesday went by without ketones. Sadie's seizure activity held steady. She had a few scary episodes at the hospital, one of which lasted 50 minutes. FINALLY late Tuesday night she had a trace of ketones in her urine. Yay! The doctors came in saying they wanted to pop the champagne.

Speaking of the doctors, I can't say enough good things about the staff at Childrens Memorial Hospital, many of whom are aware of sadie's condition and pulled strings to get her in earlier to start the diet. Sadie was released from the hospital on Thursday night and seems to be getting better, slowly...

We are cautiously optimistic.