2. Now what? Moving forward after receiving a diagnosis

We always knew Andy was unique, but we have discovered it is very likely that Andy is the only person on record with both of his genetic conditions.  This means that much of what we will be going through is uncharted territory.

Both Sanfilippo Syndrome and Battens Disease mainly affect the brain and the nervous system.  About 5% of people with an identified genetic disorder have multiple genetic diagnoses, however it is more typical that each disorder affects a different part of the body (one might affect the heart, for example while another might affect the nervous system), but it is unusual that a person has two disorders that affect the same system, like Andy.  This means there is not much data to tell us how we can predict the two disorders will coexist within Andy.

Additionally, each syndrome has subtypes, some more common than others.  The subtype classification tells us a bit more of how the disease will manifest within his body.  There are 4 types of Sanfilippo Syndrome and Andy has Sanfilippo Syndrome type 3C.  Sanfilippo 3C is one of the rarer, slower moving and milder subtypes of the disease, meaning those that have this subtype may present or appear as an adult with developmental delays.  The main way we predict this will manifest with Andy is Autistic-like behaviors, developmental delays, and a loss of major skills (such as he suddenly stops doing a task or skill he used to do with ease).  Other physical aspects of Sanfilippo 3C that could affect Andy in the future could be respiratory and airways issues (such as sleep apnea), cardiac effects, skeletal deformities (such as scoliosis), and GI issues (like frequent diarrhea).  Currently, we have (or will be soon) completed various baseline testing so that, as issues may develop in the future, his medical team will have imaging and testing to compare it to.  His brain MRI and spine and hip x-rays all looked as expected, so there is nothing to report at this time, which is a good thing.  Upcoming, we have cardiac testing and a sleep study to continue to set baselines for his care with other medical teams.

Battens Disease is the more serious of the two diagnoses.  There are 13 types of Battens Disease and Andy has, again, a more rare type called NCL 5, which has an onset usually later in the first decade of life (closer to age 10).  With Battens NCL 5, epilepsy is one of the main concerns.  Currently, it has been documented that Andy has persistent epileptiform spikes, which are spikes in activity in the brain.  These spikes mean that conditions in Andy’s brain are primed for a seizure, but may not have happened yet (and may not for quite some time).  Because of this, we are going to be establishing care with the epilepsy team at our hospital so they can begin to monitor him.  

Another serious complication of Battens NCL 5 is retinal dystrophy, meaning a progressive loss of vision.  According to our most recent ophthalmologist appointment a few weeks ago, Andy’s vision is currently stable, which is great!  With this in mind, we will also be establishing care with an ophthalmologist and retina specialist through our hospital who treats many of the children with Battens.  We will also be working with Andy’s new school team to work on developing a mode of communication that can still be used when he has low or no vision (meaning a traditional choice board or using ASL may not be a good long term solution for him).

With all of this in mind, here is what we are now doing moving forward:

• Experimental medicine Sanfilippo 3C: Andy will be starting two experimental treatments, using medicines for off-label uses.  In Sanfilippo Syndrome, cells in Andy’s body are unable to clear out and “recycle” a build-up of complex sugar molecules called glycosaminoglycans (GAGs).  To help with this, he will be starting daily Prozac, not for a mood disorder, but instead to clear some of this GAG buildup.  This medicine is very safe for him and for long term use.  We should be able to start this medicine fairly soon.

• Experimental medicine Battens NCL 5: Some studies suggest that certain symptoms of Batten disease could be caused by an autoimmune response, in which the patient's immune system attacks the body's own tissues, causing cell death.  To counteract this, Andy will start daily injections of a medicine called Kineret, which is a high strength anti inflammatory, frequently given to both adults and children for things like arthritis.  This medicine will take a month or two to get approved by insurance before we can begin.

• Following up: we have lots of appointments coming up to continue establishing care with various specialty doctors and for getting Andy’s baselines for various things.  

• Dr. B (dual specialist): we will continue to see Dr. B. every three months to monitor these new medications and Andy’s responses

• Cardiology: we will have baseline cardiac testing this fall

• Epilepsy: we will need to schedule and follow up with the epilepsy team at his hospital.

• Ophthalmology: while we had a good appointment with our current ophthalmologist, we will be switching to an ophthalmologist that is also a retina specialist and who is familiar with Battens NCL 5. 

• Sleep medicine: we have an appointment to discuss whether Andy still has sleep apnea after his tonsillectomy and if there is anything we should do to improve his quality of sleep

• Developmental pediatrician: we will continue to see our developmental pediatrician to support us and Andy’s school program in terms of behavior management and skill assessments

• PM&R: frequently referred to as pain management and tend to help look at Andy’s whole body as a system, recommending things to help with mobility (such as a wheelchair), pain management, referrals for therapies and specialists, etc. 

• Andy is starting preschool and will be getting a whole new therapy team beginning November 8!  With this in mind, our genetics team and our hospital care coordinator have been working together to put together recommendations for Andy’s IEP team (in terms of therapy minutes and specific accommodations).  Andy’s IEP team meets on Monday 10/30 to finalize his plan for preschool and we can’t wait for him to get started!