smoaksignal

Macayla Smiles

2010

We noticed before Macayla was even two years old that she has a dry sense of humor and likes to
play pranks and tricks as a way of expressing it. However, we rarely see it any more due to the
medications and seizures. This weekend, Macayla was playing by herself in her room and was
doing so quite well. I went into the den where Jacob promptly attacked me and started a
wrestling match. I was only on the floor with him a minute or two and then realized that it was
too quiet in Macayla’s room. I walked back to check on her and she wasn’t in her room. I quickly
checked the other rooms down the hall and the bathroom. No Macayla. I then realized that she
might have gotten through the foyer without me seeing her during the Jacob attack. I went into
the kitchen and checked the door going to the garage but she hadn’t come that way. Panic built
and I began calling out for her and running back through the house checking closets and any nook
I could think of. Then I thought that she might have been on the other side of the dresser in her
room and I could have missed her when I stuck my head in her door. I ran into her room and
called out to her. I looked on the other side of the dresser. No Macayla. I called out again and I
heard giggling. She was in the room with me but I couldn’t see her. I called out again and she
giggled again and I noticed that there was movement under the bunched up comforter on her bed.
She had hid herself completely under the covers and when I pulled them off of her she laughed
hysterically. This was a glimpse of our daughter that I hadn’t seen in a while and it was quite
refreshing.

As of June 2000

June 2006: Macayla does not run any more and her walking is good some days and bad other
days. She still falls a lot. She has tried many of the anti-convulsant medications and is currently
taking four. They provide some control in severity, but we still have more seizures than we can
count. She did have kidney reflux at about 1½ years old. While we were in the hospital last April
running tests, we did an ultrasound to check her kidneys and found stones in her gall bladder
which were later removed. We don’t know that the kidney and gall bladder problems are even
related to the Battens, but it is hard to know for sure. The first developmental problem we ever
saw in Macayla was a speech delay around 2 years of age. Before then she progressed normally.
She has difficulty with constipation and another Battens family told us this was common among
Battens kids. She chews a lot and so we have to provide safe things for her to chew on. She is
now drooling a lot as well. Her attention span is unpredictable from day to day as are her sleep
habits. She has about 30 words that she can regularly use in her vocabulary, but she doesn’t
always use them and rarely makes a phrase. Her fine motor skills have deteriorated but
interestingly enough we can trigger seizures by encouraging her to do anything involving fine
motor skills. She also tends to trigger them with certain types of shoulder motion. We were told
by one doctor (not ours) that you cannot “trigger” absence seizures or experience an aura prior to
having one, but we have witnessed Macayla anticipate some of her seizures and we can trigger
them most of the time.

It is such a strange condition to have. We wanted to share this information so that other families
with Battens can be aware of any similarities they may have with us. As new symptoms come to
the surface, we will try to share on the Blogger site.

As of February 2007

February 2007: Macayla has changed quite a bit in a year. Between February 2006 and February
2007, she went from walking, talking, eating, playing with objects appropriately to not walking,
not talking, eating strictly by feeding tube, and unable to pick up objects. She can barely crawl
now and her eyesight is fading. Her sleep patterns are erratic and it is unclear how much her
medications help her. Check out the Blogger site, it archives for example some of the changes
and challenges.

Macayla’s genetics show us the mutations on the CLN 1 gene that is causing the disease. We
want to share this for anyone who is interested in it. Our geneticist could not find her
combination of mutations recorded in any studies.

Macayla has two copies of this gene, one from her Dad and one from her Mom. Each copy has a
different mutation. From Dad she received a copy of the gene with the alteration of A364T in exon
4 and from Mom she got C529G in exon 5.

As we understand it, this means that on the DNA strand, the protein known as “A” mutated into a
“T” at position 364 on one copy and on the other copy, the protein “C” changed into a “G” at
position 364. Two little proteins change and Macayla’s life was completely changed. When
Macayla got both copies, she became affected by the disease. Jacob only carries one copy, so he
is unaffected.

Here you can also see a few slides from her MRI and how over time this disease has affected the
brain. The first two are from April 2005 that shows a healthy brain. It is full and has very few
gaps. Only in the cerebellum (bottom, back side of the photo – looks like broccoli) are there any
signs of a slight problem.

In April 2005 Macayla started having episodes that lasted a couple of seconds and they looked
like they could be seizures. She fell a couple of times for seemingly no reason as well. We had a
CT scan done and then a couple of days later, she started running a fever and began collapsing
multiple times. It was as if all the bones were removed from her body at once and she would just
go limp. We were admitted to the hospital and spent a few days running tests with no results.
Her MRI was declared to be normal and her condition was blamed on viral meningitis. After being
released from the hospital, her episodes continued and she started falling quite often. She would
often crawl everywhere because she fell so much. There were even times that we saw her
anticipate a fall before it happened. She would look down at her own body and whimper some just
before she would fall.

We had a 72 hour EEG to check her brain waves for seizures and discovered that she was having
absence seizures and probably having twice as many as we could outwardly observe. We put her
on Lamictil and it took several weeks to build up to therapeutic doses. But the medicine never
seemed to keep up with the seizure activity. We got a second opinion and discovered that
Macayla’s April MRI was not normal. There was “slight under development” in her cerebellum but
since we only had one MRI we did not know if she was born this way or not. Her seizures were not
typical either. The doctor called it myoclonic astatic epilepsy. She was having absence seizures
with myoclonic and atonic components. This meant that her seizures could occur and be
undetectable to us or they could be manifested by either blinking of the eyes, loss of tone in part
or all of the body, or jerking in all or part of the body. She would have these seizures that would
last a few seconds and then go back to doing what she was before or she would fall and get hurt
during one. Macayla has about 100 seizures a day. Our doctor has other patients with this type of
epilepsy and said it takes quite a while to get the medications right in order to get it under
control. Epilepsy is a symptom of something else, but half the time that something else is never
discovered and only the symptom can be treated.

We ran the “million dollar work up” as one doctor called it to try and find a cause for this epilepsy
but she was negative on everything. In the meantime, Macayla continued to digress
developmentally and none of the medication seemed to control the seizures. In December 2005,
we had a second MRI and this confirmed that the “under development” of her cerebellum was in
fact atrophy and that this atrophy was now affecting the entire brain. This meant we were dealing
with a progressive, degenerative brain disorder. Our doctor had a hunch that it could be Battens
disease and ran the test. The week after Christmas the test came back positive. This disease is
unpredictable as far as prognosis because it progresses at different rates depending on the type
of Battens and the individual child. The major symptoms will be immobility, blindness, and
seizures. There is no cure.

By December 2005, the next two show significant
changes in the cerebellum and the rest of the brain.
Notice the increase in space between the skull and
the brain and the increase of black lines branching
out through the brain. This is where the atrophy has
occurred.

April 2006

December 2006

February 2007

February 2007 shows even more atrophy throughout
the brain but the temporal lobes seem less affected
and this helps her memory stay in tact. Her atrophy
is certainly reflected in the loss of skills and
abilities we have witnessed this past year.

Here you can also see a few slides from her MRI
and how over time this disease has affected the
brain. The first two are from April 2005 that shows
a healthy brain. It is full and has very few gaps.
Only in the cerebellum (bottom, back side of the
photo – looks like broccoli) are there any signs of a
slight problem.

Images