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Macayla doesn't smile as much as most little
girls and boys; Macayla Smiles written by Jeff Smoak |
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Glimpses of Macayla: 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. |
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Macayla's Illness & Diagnosis:
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. .
Clinical Manifestations:
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.
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.
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.
April 2006
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.
December 2006
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.
February 2007
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