Continuing with Batten

We enjoyed a family vacation last month.   It was William's first trip to the beach, and he enjoyed it.

The results of the his St. Louis eye exam (ERG) indicated moderate rod and cone dystrophy, a part of the Batten disorder. We were hoping that the sight loss would be mild, but I suppose moderate is better than severe.   

William has been accepted by Make a Wish Foundation for a trip to Disney World. We will be visited soon by the Little Rock representative.

Also, we are facing having to make a major decision, and need peace that we are making the “right” choice. We need your prayers! Thanks!!

Here is an update for those wanting to know how things are going for the Braddocks.  We are hanging in there.  William is still the same.  Sleep is almost non-existant, and we are trying different medicines for his increase in tremors and seizures.

There are two things that we know for sure about life. There will always be change. And…there will always be hope. Sometimes it can be anticipated and even controlled, and often it cannot. Sometimes we are startled by its suddenness, and other times it is so gradual that it takes a lifetime to see.

Hope is innate. Whether we realize it or not, we evaluate change and we either comfortably or uncomfortably embrace it and, once we do, almost immediately hope enters the picture. We pull ourselves up by the bootstraps. We reinvent ourselves.

We catch ourselves mulling over the ‘what ifs,’ and the current status of it all just kind of gets us.  However, we are trying to live in the present as each day is truly a NEW day, and we’re going to live it to the fullest!  We realize that we are truly blessed in so many ways.

Hope is the anchor of the soul.      Hebrews 6: 19

Thank you for prayers.

There is nothing more to report except we are struggling to cope with this diagnosis.  We are uplifted and touched by the number of people praying for us.  Thank you and please continue.

Diagnosis

This is a hard blog to write, but here it goes.

We got a diagnosis from our St. Louis doctors, and it’s about as bad as we could imagine. William has Neuronal Ceroid Lipofuscinoses or more commonly known as Late Infantile Batten Disease, http://www.bdsra.org/.   He is getting genetic testing to verify this diagnosis Friday, but the results won’t be back for several weeks. We have little hope that it’s a misdiagnosis because we feel the doctors wouldn’t have given us this devastating news without being sure.  

There are about 200-300 children in the U.S. with this horrendous disease and 1,200 in the world. It’s classified as an “orphan disease” because it’s not economically feasible to find a cure for only 1,200 kids. There is a clinical trial at Cornell University Hospital in New York that is an option, but we have time to think about that because they need the genetic testing results to accept a patient. The research involves injecting stem cells into the brain, and isn’t a cure.   It might slow down the progression somewhat, but that’s all.

We really appreciate your concern and prayers! As you can imagine, we are having trouble dealing with this, and find it hard to talk, or even think, about it without crying.   We are trying to take this one day at a time and even that seems overwhelming!

We will keep you updated through William’s journey.  Please keep us in your prayers!!

William's First Trip to St. Louis Children's Hospital

William is an active 3- year old with some developmental delay.  At 2 ½ years we got a diagnosis of mild PDD-NOS (on the Autism Spectrum).  He isn’t talking much (maybe 10 words), but has always been above average on physical milestones (until lately).  William also has a sleep disorder that makes the household tired and sleepy!  He has been going to sleep with little trouble, but he rarely sleeps longer than 5 hours at a time.  Usually, at about 1am, he is up for the night!  He has been in therapies since he was about a year and a half, but they haven’t seemed to help.

We started noticing tremors in his hands while he was trying use a spoon within the past 3-4 months. Then it progressed to his legs.

Not long after that, William stopped walking all together. He would just crawl and we took him to the ER for evaluation.  Nothing was found to cause his inability to walk, but it lasted about three days.  After this episode, William progressively got worse with balance, falling, tremors, possible seizures. 

He was prescribed Keppra (an anti-seizure med).  It doesn’t take away the tremors but it may help contain them?  Tremors and jerkiness with unsteady gait and unbalanced motor skills are worse when tired or trying to mentally accomplish a task, for example stacking blocks. And then there are many times his legs just give and he falls.  This is progressing while he is at rest. 

William’s pediatric neurologist in Arkansas suggested a motion disorder specialist at St. Louis Children’s Hospital, Dr. Barry Schlagger.  Dr. Schlagger gave us an appointment but wanted William to have an in-patient 48-hour videoed EEG.  The doctor wanted the test results before the scheduled office visit at the end of May. 

William was admitted to St. Louis Children’s Hospital on Monday, March 26.  The leads were attached to his head (not fun!) and the wires ran into a backpack which was attached with a line to the wall.  It wasn’t as bad as we expected, as William got used to his head being wrapped and the test lasted only a little over 24 hours.  They got the information they needed and stopped the test.  An MRI was scheduled on Tuesday.  It was a feat to get this scheduled so quickly and required some string- pulling, but Dr. Schlagger made it happen.  The MRI showed he was having electrical spikes in his brain, but these weren’t related to the episodes of falling.

While he was sedated for the MRI, they did a lumbar puncture and took a good amount of blood.  We really appreciated that they put him out with gas before inserting the IV!  They sent some of the testing to Seattle, some to Emory, and some to other places that I can’t remember.  They are doing a broad spectrum of tests and maximizing the hospitalization and trip. 

They brought a team of physicians together to review/evaluate William.  This team approach reminded me of “House,” but thankfully Dr. Schlagger is nicer!  The head of many departments had their “go” at William.  The epilepsy neurologist ruled out that he was having seizures, but said he might or might not have some in the future.  (We thought that was definitive!  NOT!)  The Ophthalmology Department did an eye exam while William was sedated and thought they found something.  We met with the head of that department and scheduled another test in May when we are there to see Dr. Schlagger. 

I can’t really count the number of doctors who saw William, but I was thankful for every one of them.  Someone cared enough to arrange all this!!  You just can’t imagine how much that means to us. 

They put William on Klonopin in addition to Keppra.  It does seem to help with his tremors/shakiness, and they tried to get the dosage regulated before we left the hospital.  The new medication also helped him sleep through the night, and there was a glimmer of hope.  However, the doctors busted the bubble when they said his body would get used to the new med, and it wouldn’t affect his sleeping before long.

 I don’t think we are going to get a definite diagnosis before all the tests come back, but we did get a bunch of stuff ruled out.  That’s good.  This is a process, but for once we feel we are on the right track. 

We are on our way back to Arkansas with a good feeling about the experience!

Please keep us in your prayers.

 William and Braley right after he got the leads on his head.  He was TRAUMATIZED!!

He got used to the situation before long, though.  PawPaw really came through as a distraction!