5. Change isn't coming. It's already here.

Andy in his loaner wheelchair, graciously donated by a former preschool family, in his classroom at school.

Over the past seven days, Andy has had a lot of appointments at our hospital to check in to progression of his diseases.  At the time of our last update, we were in the first few days of school.  Andy had been more sleepy than usual and had been having some difficulty walking and navigating his environment.  We chalked it up to him adjusting to the new school schedule causing a possible change in his seizures.  Luckily, we had several progress monitoring appointments lined up for the end of August/beginning of September, so we waited for them, hoping for good (or actionable) news. Here’s what we found:

• Overnight video EEG: they did not see any changes in his seizure pattern or type and recommended no change in medication. They think the staring spells, difficulty walking, and increased tiredness that we are seeing, both at home and at school, are not from seizures and are being caused by something else (most likely the disease progression).
  

• Neurosurgery: Andy also had a brain MRI a few weeks ago that showed more white matter and fluid in his brain than expected. Because of this, we were referred to neurosurgery to have a lumbar puncture (spinal tap) performed to see whether he has hydrocephaly (too much fluid in the brain).  Unfortunately, the lumbar puncture showed that Andy’s brain is atrophying and the fluid we are seeing is spinal fluid filling some of the open space. This means the changes we have seen in Andy’s behaviors and demeanor are not being caused by hydrocephalus. They are the diseases running their course.
  

• ENT: We followed up with ENT for all of the various procedures he has had done (tonsils, adenoids, sleep apnea, and ear tubes).  As of now, everything looks good and we will follow up again in 6 months.
  

• Retina specialist: Retinal myopathy (deterioration) is a hallmark of Batten Disease. Luckily, his retinas look healthy, his vision is stable and no loss of vision has happened yet. We follow up again in 6 months for progress monitoring. 
  

The hard thing is that it appears the diseases are causing the regressions we have been seeing, not seizures or cysts (which can be treated and resolved). It is very sad and frustrating when there isn’t much we can do to fix or alleviate his symptoms. It would probably be a good idea to start reframing how you are talking to your kids about Andy. Up until now we have just been saying he’s “different” but it is time to start saying “he’s sick”. He’s not walking well and will soon be using a wheelchair. He rarely makes eye contact and is frequently in his own world. He’s sleeping a lot more and spends most of his time snuggled with someone on the couch or napping.

Basically, things are progressing quicker than we anticipated a year ago, but it also means that he may not be in this medical limbo for years and years. There are no good answers and “good news” is going to start looking different moving forward.

We appreciate the continued support from our family, friends, and community. We have been overwhelmed by the response to our fundraising efforts (www.allforandy.com/donate) and by the referrals and connections people have shared of charities and organizations that may be able to help us reach our goal. Please continue to reach out and check in on us and our extended families - this is a lot for everyone to handle, not just our immediate family and we are immensely grateful that we are at the forefront of so many peoples' minds.