How We Manage Nicholas

How we manage Nicholas:
Medications
The following is what Nicholas takes for medications on a daily basis. 6AM 2mg Ativan, 6 AM 0.25mg Clonazepam,6AM 3.3  ml levocarnatinve and 1 multivitamin,  9AM 1 1/2 mg Ativan, 12:00Noon 2mg Ativan, 12:00PM (noon) 3.3ml levocarnatine, 3PM 1mg Ativan, 5PM 1/2mg Ativan, 7:30PM 0.25 mg Clonazepam, 8PM 1mg Ativan, 8PM 3.3ml Clonazepam, 8:15PM 0.25 mg Clonazepam.
Reason for these medications:
Short-acting Benzodiazapines Ativan and Klonopin are used for their anti-serizure activity.  We have found that most anit-epileptic medications have serious side effects which mimick disease progression.  With the elimination of those types of medications, Nicholas saw a significant improvement in all of his symptoms that could be contributed to Batten disease.  All medications have toxicity.  In fact dosing of medications is based their efficacy balanced by their toxicities.  In a condition like Batten disease, progression of the disease may be very rapid.  On the other hand, most traditional anti-epileptics have significant toxicities and long half lives.  A sudden progression of symptoms leaves us with a difficult task of understanding whether these symptoms are related to disease progression, medication side effect, or a temporary illness.  By using medications that are dosed frequently, have few side effects, and short half lives,  with the help of our neurologists we can make “micro-adjustments” to the regimes, without giving up efficacy of seizure control.  We have found this to be very helpful in sorting out which symptoms are disease related and which are medication related.  The natural toxicities of the traditional anti-epileptics seem to be severe.  We have certainly seen this is Nicholas.  One wonders whether a brain with significantly compromised neurons can tolerate such toxicities, without leading to significant premature cell death.  While we feel comfortable with our approach to Nicholas, this is clearly an area of interest for further study.
Levocarnatine is an amino acid which has traditionally been used for “neuro protective” properties.  Nicholas was orignially given this after suffering toxicity from Depakote(VPA) and Lamictal.   Here is the passage fro UptoDate which helps explain this:  “Because VPA-induced hyperammonemia and hepatotoxicity may be mediated in part by carnitine deficiency, carnitine supplementation may prevent and attenuate these adverse effects. The administration of L-carnitine (50 mg/kg/day) is recommended for patients with hyperammonemia, lethargy, coma, and hepatic dysfunction. Oral carnitine administration reverses carnitine deficiency, decreases elevated ammonia levels, and improves lethargy in patients treated chronically with VPA [18,19,37]. It also may hasten the resolution of coma, prevent hepatic dysfunction, and reverse mitochondrial metabolic abnormalities in patients with acute VPA intoxication [11,38]. As an example, a retrospective study of patients with severe valproate-induced hepatotoxicity noted that intravenous carnitine therapy was associated with a marked increase in survival”.
During that period of toxicty, Nicholas did have elevated ammonia levels, and mild transaminase elevations.  We have decide to keep Nicholas on this medication due to the relative small risk, and the potential for some benefit.  In Oct of 2008, an abstract was published showing an up regulation of lysosomal  H+/ATPase gene expression in rats supplemented with L-carnitine.  ”the increased H+/ATPase might rebalance the pH homeostasis within the cell and normalize the pool of enzymes.” ( Traina et al. In the Rat Brain Acetyl-L-Carnitine Treatment Modulates the expression of Genes Involved in Neuronal Ceroid Lipofuscinosis, Mol Neurobiol (2008) 38:146-152 ). 

Nicholas is fighting a battle up hill battle but he is determined to win!!!!

Eating: Nicholas is fed all meals and snacks. He is able to feed himself but he does not have the ability to feed himself enough to maintain his current weight. I have been feeding Nicholas since September 2008 after his diagnosis of batten disease. It has made a huge difference and is a big part of his day to get as many calories as possible into his body. He is not on any special diet and no food is eliminated. He prefers meat and potato, hot meals and not sweets. He loves going to eat out at restaurants. I give him a ipod with his cartoons playing and this distracts him to eat while he listens to the movie. Occasionally Nicholas pockets food in his cheek and needs to be reminded to chew and swallow. He also needs to be told to tuck his chin down to his chest while drinking from a straw. This eliminates coughing.

Reason for this approach: Fats are essential for brain function.  Two thirds of the brain is composed of fat.  The myelin sheath is a protective coating, covering all neurons, increasing their ability to transmit nerve signals and protect the neurons from damage.  This sheath is composed of 30% protein and 70% fat.  Oleic acid is the most common fatty acid in the brain.  It is found in dairy products, oils, nuts, avocados, to name a few.  Scientists at the USDA’s Laboratory of Neuroscience and at the Jean Mayer Human Nutrition Research Center on Aging at Tufts University reported that neurodegenerative disorders such as Parkinson’s and Alzheimer’s appear to exhibit membrane loss of fatty acids. “Thus it may be that an optimal diet with a balance of omega-6 and omega-3 fatty acids may help to delay their onset or reduce the insult to brain functions which these diseases elicit.”   International Journal of Developmental Neuroscience, July 2000.

This being the case, there is a significant role in maintain a high level of nutrition in children with a neurodegenerative disease.  We have taken the approach that all calories, especially fat, are beneficial.  We have therefore stayed away from any elimination diets.  Instead we encourage high fat and protein containing foods.  Another aspect of Batten disease is the amount of calories that Nicholas requires.  We have found that simple physical activities require a high degree of energy expenditure as coordination becomes impaired. He must take in calories as if he were training as an elite athlete.  This has helped maintain his physical strength, even as his coordinaiton of that strength lessens.  We have no concerns that Nicholas will get too fat.  In fact he brags about his belly and we encourage him to “get as big a belly as Dad”.

Food/Drink:

  • Drinks water or lemonade, apple juice but mostly water. Uses cup with straw. Needs to lean forward while drinking. Otherwise he sometimes coughs.
  • Food likes:sausage, meatballs, pasta with sauce, Chinese noodles, chicken, all veggies, canned fruits, apple sauce, all meats, toast with butter, chips, crackers (cheese it, wheat thin), bacon, eggs, potato’s, sour cream, noodle soups,  hot dogs, hamburgers, French fries, pizza, fish, stuffing, most hot meals, jello. Occasionally pancakes, waffles, French toast- if fed with sausage or bacon, butter and syrup, pickles, gummy fish, chicken pot pie, beef meals
  • Dislikes: mac and cheese, grilled cheese, cheese sticks, milk, yogurt, ice-cream, pudding, no longer really likes sweets, most candy

Physical Therapy:Nicholas meets with his physical therapist at school twice a week for 30 minutes and out side of school 2-3 times a week also for 30 minutes. For a total of 5days physical therapy. Nicholas sessions are fun for him. His therapists makes the session into an adventure with one of his Disney characters. (Will add more detail information to what he does in sessions)

Occupational Therapy: Nicholas meets with a occupational therapist 2 times a week at school for 20-30 minutes. He also meets with a private occupational therapists for 45 minutes to 1 hr. (one day a week) In this therapy they work on…..(will be adding more detail information what he does in sessions)

Speech Therapy Nicholas has speech at school 3 days a week for 30 minute sessions. Outside of school he has a additional 30 -45 minute session. (will be adding more detail information what Nicholas does in sessions)

Massage Nicholas has a 1 hour massage three times a week in our home. This has really made a difference in keeping Nicholas muscles loose. Especially his feet which he always has difficulty and reports they hurt!

Play Time- / What to do with Nicholas? This is a list that I have at my house for my nursing staff that helps us take care of Nicholas. We are not sitting around doing nothing. :)

Physical Activities

  • Play with ball. Shoot into a net,  pass ball back and forth, bowling with a ball knocking pins down, baseball in the basement and running to the bases
  • In house: Ride tricycle or any riding toys with assistance. Good for balance. Assistance for safety
  • Make an obstacle course – jumping on pillows on floor-to go under slide, to go up and down slide, walk over “rock pad”, climb through tunnel,
  • Walking up and down the stairs with full assistance. Hand on railing
  • Playing on play ground. If your alone assist him going up stairs. Set him up to go down round slide only. Let him go down. Don’t leave him to push himself down slide (he might fall backwards). Also walk up stairs and go down “baby slide”
  • Ride bike with full assistance outside, needs a lot of help keeping feet on pedals but loves feeling like he is riding.
  • Play on big wheel and ride toy that moves by arms on wheels
  • Jump off coach onto crash pad. Not very safe but he loves doing it with your complete supervision. You can hold his hand while he jumps to make sure he lands on the pad only.
  • Indoor slide with complete supervision and assistance for safety

-Sound (books, takes, music)

  • Nicholas loves anyone to read books, any books but especially books by Disney movies, curious George, backyardigans, Dora, spongebob, Micky mouse, Donald duck stories
  • Nicholas likes books on tape. Curious George, Dr . Seuss-cat in hat, Magic tree house, backyardigan
  • Nicholas loves you to make up funny stories about him and Curious George or Buzz Light year (from Toy Story movie) characters
  • Musical instruments he loves playing them, especially the flute or harmonica. Also try big piano, Music tapes such as the wiggles, backyardigans, Micky mouse, Disney songs
  • Nicholas loves all Disney movies and loves TV

Sensory

  • Water table
  • Sand box outside – likes you to bury his feet or hands, make “castles or volcanoes”. Needs help with shoveling sand into bucket.
  • Small pool- put rings in pool and have him get them out, water balls- have him throw them out . Put indoor slide from house into pool. And hose on slide – like a water slide.
  • Swing
  • Sprinklers- help him walk through or sit near to get sprayed. He loves it!
  • He likes to paint
  • He likes to cut paper with help
  • Lay in grass and make “grass angles”
  • Likes to Take baths with bubbles
  • Put a bunch of small items in a bag and have Nicholas take them out and guess what the item is.
  • Smell flowers outside
  • Finger paint
  • Water guns
  • Water balloons

Dramatic Play

  • Nicholas loves all dramatic play. Your bad guys, your good guys, he is a prince fighting the dragon. He loves to act out movies and shows—especially backyardigans, toy story movies, sleeping beauty ect.
  • He loves to play with castle and fire station. Give him a big fire truck and make stores up about putting out the fire together. He knows our toys well and his eye sight does not get in the way of continue to play with the toys one engages him to play.
  • Nicholas loves playing with the race cars and trains in the basement
  • Loves playing with RC race car (green with remote), Wall-E and Eva. Make up a story about them and play together
  • Weeble walbles tree house
  • Wonder Pets figures and car
  • Garbage truck- he likes to hear and help putting trash in the truck
  • Play with cash register
  • Haunted House Car garage, has scary music on the toy and likes to put cars in trap door
  • Jungle safari toy with animals which makes sounds.
  • Geo-Track Trains with remote controls
  • Big Blue train with Black track- loud and he uses remote
  • Mickey mouse yellow train
  • Costumes, crown, helmet and swords
  • Barn with animals
  • Race cars with remotes and polar express trains

TV/Movies

  • When watching any movie or show tell Nicholas exactly what is going on in the scene? He will follow the movie better and also enjoy it more. He knows the movies but loves someone to tell him every detail in the scene.
  • Dora, BackYardigans, Calliou, Wonderpets, Little Einstein, Max and Ruby, Dragon Tails, Curious George shows, Scooby Do
  • Movies: Toy Story, Polar Express, Snow White, Sleeping Beauty, Lilo And Stich, Micky Mouse movies, CareBear Movies, Rescures, Fox and Hound, Robin Hood, Mary Popins, Cars, Stewart Little, Christmas and Easter movies, Pooh and Heffalump movies and many more…..

Keep up the fight nicholas! You can do it!

2 Responses

  1. John Neely says:
    August 4, 2011 at 6:48 am

    Hi Heather, best of luck for Nicholas and your whole family. I read your excellent and very informative website – I had never heard of Battens Disease before reading your story. With two kids (16 months and 3 yrs) I admire your strength and advocacy for your son. I’ll be making a donation now. Hope you are still xc-skiing! John Neely

    Reply
  2. Donna Hill says:
    December 27, 2011 at 12:11 pm

    hI i READ YOUR FAMILY STORY AND AM DEEPLY TOUCHED. My Niece has Battens and she is now 19 years old. She is from my exhusbands side of the family. I remeber her little and not being able to figure out what was going on with her . In and out of hospitals and very many tests. She has her good and bad days , But she is still with us… I hope Nicholas is doing well . He will be in my prays.

    Reply

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