Travis' Battle

Four and a Half Years in a Nutshell

Travis M. Carter

Derek & Jenny's firstborn son, Travis - a beautiful baby boy is born full term plus a week after a normal healthy pregnancy. The birthing labour was difficult as mom had to be induced. His initial Apgar Score at birth was 9 out of 10. He had a lower than normal heart rate first 48 hours after birth. We attributed this to the difficult labour. He stabilized within 48 hours and we all went home happy to begin our new life as a family. Travis was breast fed until the age of 6 months. Everything was going great!
Travis makes all the milestones. Sits at age 6 months, says mama & dada at age 9 months, crawls at 9 months, walks at 1 year plus one week. Loves to run & play. He amazes us by putting together a ten piece shape sorting ball at 18 months.
Developmentally, Travis is very bright. His eye & hand coordination is amazing. At age 2 he masters hitting a golf club and ball. His hearing and eyesight are excellent. He could hear and see an airplane very high up in the sky before anyone is aware of it there. For all intents, Travis is a normal healthy little boy.
Verbally, at about the age of 2 ½ we notice he is a little behind with his expressive language. He speaks about his surroundings but never has the ability to have a two-way continuous conversation. We are a little concerned, but are told by our family doctor every child is different and not to worry.
At about the age 2 ½ to 2 ¾ we noticed he is clumsy at times; bumping into things and tripping over his own feet. We attributed this to him running all the time and not paying attention.
July 01, 2001, Travis is 3 ½ years old. On this day he settles into bed for an afternoon nap, and only moments later begins to scream "mommy" uncontrollably... .he's having his first seizure unbeknownst to us. He is rushed to Mac Master Hospital in Hamilton, Ontario and the next day is released. On the way home he has his second seizure in the driveway. We rush back to the hospital. Dr. Ronen, a Pediatric Neurologist admits him for further testing. CAT scan shows no tumors, only that his cerebellum is a little thinner than normal. The doctor suggests this has no bearing on the seizures. An EEG that shows he has irregular activity on the rear left lobe concurrent with typical seizure activity. Dr. Ronen diagnoses Travis with "Childhood Epilepsy" and tells us that he has 85% chance of outgrowing this condition by the time he reaches puberty. Travis is put on a low dose of Valproic Acid syrup - 0.5 ml twice daily.
Fall 2001 we decided to enroll him into "Infant Jesus Nursery & Kindergarten". We think that the seizures are part and parcel of the delay in expressive language. Our ignorance and misinformation prove us wrong later.
November 2001, the teacher did notice his delay verbally and suggested we contact Early Words for further assessment.
As for the seizures, Travis has approximately 9 seizures in total from and including his first July 2001 through to March 2002. Every time he had one we attributed this to growth spurts and his body needing more Valproic Syrup to stabilize him - by February 2002 his Valproic levels were at 4.5 ml twice daily.
On February 14, 2002, Dr. Ronen suggests we place Travis on "Tegretol" instead of the Valproic. Tegretol is another anti-seizure medication. He tells us that it will metabolize in his system longer and prevent any break through seizure prior to the next dosing time. We found that Travis would on occasion only have a seizure just before his next dosing time. We had suspected that either his body had a growth spurt and needed more medication or that he just got use to that new level and needed more for it to be effective.
On Feb 20/02 we begin to slowly wean him off the Valproic (3.5 ml twice daily) and slowly begin to wean him onto Tegretol. By the second week of March 2002 Travis' Valproic level is at 1.5 ml twice daily & Tegretol level at 5.0 ml twice daily.
On Sunday March 10/02 we notice Travis spontaneously collapse onto his bum twice this day. The next day, Monday at school he drops onto his bum two more times. They seem to happen for no apparent reason. That same day, at home we see it happen twice more. We call Dr. Ronen and are told he is out of the country on an emergency family situation. We ask for the other Pediatric Neurologist, of which thereare only two for all of Hamilton, and are told he is in Florida on a family vacation. We are misinformed, and told to see our family doctor. We go to see our family doctor on Tuesday and she suggests bumping the medication back to the level/Travis was on the previous week (Valproic 2.5 ml twice daily); seeing that he had no problem on that dose. On Tuesday his drops increased to eight in total. Wednesday brought on eleven. Nothing got better. By Thursday he had sixteen of these drops. We are frantic by Friday, as we cannot wait for Dr. Ronen to get back from Europe. We decide to call Toronto's Sick Children's Hospital and ask for their Pediatric Neurologist - we are told to immediately increase the Valproic levels back to the original dosage (4.5 ml twice daily) and to keep him on the Tegretol (5.0 ml twice daily), until he sees Dr. Ronen.
Travis has an EEG on March 25/02 that confirms the drop activity and on March 27/02 Dr. Ronen suggests that there could be some other underlying condition that would have come about sooner or later regardless. We ask what this could possibly be and he does not comment. But merely suggests that Travis' condition is genetic. We both look at each other not quite sure what to make of this, as he does not elaborate. He tells us to monitor Travis in the meantime. Travis remains on the Valproic level of 4.5 ml twice daily and the Tegretol is stopped that day.
In that third week of March we noticed Travis was acting different. His head would slightly shake side to side while watching T.V. His hand would shake a little, once or twice. His condition with regards to the drops improves greatly over the next few weeks. But he still seems to have the occasional drop, especially while standing in front of the T.V. Needless to say we try to keep him away from being so close to the T.V. In the meantime, Travis is being monitored by us, and Dr. Ronen.
On our next visit. Dr. Ronen suggests we put him on a new medication from Japan, but we are leery, given what happened a few weeks ago. We ask him if we are hurting him by not putting on the medication and he basically says "no". He never did expand on the drop seizures. He only suggested their was something genetically making Travis have these drops, Derek & I decide that if he continues to have more drops that we will consider the Japanese medication. We kind of felt he may want to experiment with this drug on Travis as the doctor only recently had it brought into Canada. In other words, it is not available as a prescription by any other doctor other than Dr. Ronen. We racked our brains trying to think why he said it must be genetic, because the doctor would not elaborate.
As time passed Travis started to have more drops and his cognitive skills were regressing. Over this time we try to adjust his Valproic levels on the thought that a higher dose may control the occasional drop he was having. These adjustments on the medication are to be supervised over a 7 - 10 day period to see how effective they are. Most times we agonized over the increases because they only made him lethargic. We were willing to try to see if it would control the drops, but it broke our heart to watch our son act so dopey.
Dr. Ronen schedules specialized blood & urine tests. On May 23/02, Dr. Carol Heirst, an opthamologist visually checks Travis' eyes for signs of something. We ask our family doctor what kind of degenerative types of diseases Dr. Ronen could possibly be looking for, because he was not being specific. She suggests something called "Battens", but does not elaborate either, as she says she could only fill a thimble with how much she actually knew about the disease. We immediately went home to find more about this disease on the Web. We cried our eyes out as to what we were reading. Some of the things applied to Travis. We could not bear to read any more. By July 05/02, all the test results came back fine (blood, urine & eye test). We were so relieved that it was not Battens. Yet, Dr. Ronen still wanted to do one more test... .a muscle biopsy scheduled for end of Sept. 2002.
By August, Travis had trouble singing some of his favourite songs, he had trouble recounting learned letter recognition & shapes, etc. all of which he knew before March 2002. We thought if we could control the drops maybe he would be able to relearn everything.
On August 13/02 we finally decide to put Travis on the medication from Japan - Excegran (Zonisamide).
Aug. 26/02 we had our long awaited appointment with a developmental pediatrician Dr. Mahoney. We thought for sure, he would have answers. We thought Travis may have PDD or some slight form of Autism. After meeting with Dr. Mahoney he ruled everything out. We told him we were waiting to have a muscle biopsy end of Sept. 2002. He said lets wait to find out what those results are.
As for the drops, they seemed to have sopped ever since he started the Excegran (Zonisamide).
Sept 30, 2002, the muscle biopsy was performed by Dr. Tarnapolsky at Mac Master Hospital.
Tuesday, October 22, 2002 we received the most devastating news any parents could receive. Our life and our world collapsed. Our son, Travis, is diagnosed with a very rare and fatal disease called Battens Disease for which there is no known cure to date. It's an inherited disorder of which two people whom are carriers have a 1 in 4 chance of having a child with this disease. We immediately thought of Seth as well, our youngest son. That day we cried our eyes and hearts out, not really believing this is actually happening to us. We were told we are the 48th family in all of Canada to ever have had this diagnosis. And that only 200 cases have been known in all of North America. And as few as 2,000 worldwide. This does not mean these are living cases; just diagnosed cases. Most children with Travis' form live to age 8, but rarely pass 10 with no quality of life in the end. We understand that there are basically four different forms of Battens. Travis' form is called Late Infantile Neuronal Ceroid Lipofuscinoses (LINCL2). From a clinical diagnoses, the age of symptom onset is between the ages of 2 to 4...Travis' first seizure happened at age 3 ½.
Within days, Daddy decides he needs to fix Travis no matter what. We were not going to lose our son to this monster. He and family searched the Web for any and all information we could get our hands on. We found out about the B.D.S.R.A. (Battens Disease Support & Research Association). Lance Johnstone the Director was most informative and supportive. We located a doctor at Sick Children's in Toronto that has quite a number of Batten's patients. He came highly recommended by three reputable sources. We immediately contacted Dr. Minassian and told him we wanted to make an appointment to see him. We asked if he had ever heard of a drug call Flupirtine from Europe. He immediately booked to see us.
Nov. 06, 2002. That day forever changed our belief that we can help find the cure for Travis. We now had HOPE. Huge hope. Prior to seeing Dr. Minassian, through our searching, we contacted another family in the United States that is part of ground breaking research. We asked our new doctor at our appointment if he had ever heard of a man named Phil Milto heading the Nathan's Battle Foundation funding gene replacement therapy research. He said to us that day, "I have met with Phil Milto, and know of the research he is doing... .they are very close to having something... .he is your son's only hope... .if it were my child 1 would help support this research." Those words were all we needed to hear. We left Sick Children's Hospital that day with Flupirtine and Hope. The Flupirtine is not a cure, it is believed to possibly help aide in slowing down the progression of the disease.
Our hope is that we can slow down the disease's progression long enough until the clinical trials can begin on this gene replacement therapy. We want Travis to retain and remain in the same condition that he is currently in for when this clinical trial begins...the cure is within reach.