Mackenzie’s Story

Mackenzie was born a perfect, healthy, smiling baby girl.  We were so excited…our family was complete.  Our first born was a boy and now we had our little girl…life was perfect!  Mackenzie was growing like a weed…always off the charts in her height.  She was reaching all her milestones and actually was taking steps around 10 months old…by 12 months she was walking like a pro!  At 15 months I can recall her saying words like Dora and Mama.  At 2 she was already getting into trouble and liked things her way or no way:)  She was building friendships especially with her little friend Kiera who she adored.  She would run up to Kiera and give her a big hug and they always would share giggles in the back seat of our van!  Around Mackenzie’s 3rd Birthday we started to become concerned that she wasn’t talking as much as other children her age.  People would say she’s just a late bloomer and we would tell ourselves it will come, that she must have a quiet personality like her daddy or that her brother just wouldn’t let her get a word in.  The summer after her 3rd b-day we took her for a check up with her doctor.  We told him we were concerned about her speech.  Since he was leaving the clinic he referred us to another pediatrician.  In the fall of 2011 we met with her new pediatrician.   Her new doctor had some concerns and referred us to speech therapy…we were put on a list and told it would be months before Mackenzie could be seen by a Speech Therapist.  Three weeks later things changed.  Mackenzie had her first seizure.  It was an absence seizure.  We brought her into the Children’s ER.  There really wasn’t anything they could do at that point, she was fine by the time we got there so we were sent home pretty quick and told to contact her doctor.  Within a week (and before we could even get into see her pediatrician) she had another seizure.  This time it was a little different and she kinda went limp and her tongue was moving in and out of her mouth.  Once again we went back to the ER.  They checked her out then booked her an EEG for Jan 2012.  The next day we were seen by her pediatrician who decided to put her on Valporic Acid an Anti-convulsant medication. The next day she had about 25 absence seizures(starring spells). By bed time we had had enough, we were frightened and scared. We realized it would take time for the meds to kick in but we just couldn’t keep watching her go into these little trances. Off to The ER we went again. This time they decided to admit her so they could monitor her seizure activity and get her an EEG as soon as possible. We spent the weekend on CH4. We met with the doctor, neurologist and answered questions for the genetics team. We told them that she was a pretty normal child other then her speech not accelerating as fast as we would like and that she was a clumsy kid who fell down frequently. They set up referrals with Child development, MRI department and genetics and told us that it could be months before we would be seen by these departments. After three nights in the hospital and her EEG appointment we went home to start her back on her seizure meds. As her seizures meds where getting into her system we starting seeing less and less seizure activity. Then she got an Urinary Tract Infection that sparked a 3 minute starring spell. Now she was on antibiotics to treat the infection but antibiotics can decrease your seizure threshold as we found out when she had a 5 minute absence seizure…this one was very scary her lips turned blue and she was lying on the ground unresponsive. By the time the paramedics arrived she had come out of the seizure and was in the postictal phase (very sleepy). Soon after that incident her neurologist decided that maybe adding a second anti-convulsant would give her more coverage for breakthrough seizures. So we started her on Topamax. For us Topamax was a nightmare. As we slowly increased the topamax slowly our little girl just wanted to sit there in a daze, she started to drool and grind her teeth. Soon our potty trained child couldn’t even feel she had to go…this was it, we had had enough…sure her seizures had stopped but she was regressing so much we asked her neurologist to take her off Topamax. At her appointment he took one look at her and decided to wean her off immediately. After a blood test showed her levels were “toxic” we stopped the Topamax cold turkey. By this time we had gotten the results from her EEG…they hadn’t actually caught any seizures on the read but noted some misfiring more frequently on one side of her brain. In February 2012 we got the results from her MRI. Her MRI did not show any lesions or tumors but what concerned the doctors was that the size of her brain overall was a little small for her age and gender and that there was more “white” space on the area that controls balance and coordination. Now fast forward 2 months to April of 2012. She had now been seen by Child development and was diagnosed with global developmental delay. We thought great, a diagnosis, now she will get the help she needs in school and in life to succeed. Now came her Genetics appointment on April 25, 2012. The doctor looked over her file and asked a few questions then decided to take a blood sample to check for any possible genetic disorders…he had mentioned testing for Rett’s syndrome and Angelman’s but he said that he didn’t think she had either it was just to rule them out… to our knowledge Batten Disease wasn’t even on the radar. Three weeks later we got a call to come in to the Genetics department for preliminary test results…my heart sank…why do they need to meet with us for preliminary results? How did they get the results so fast…the doctor had said these results could take months! So the next day May 16, 2012 Scott and I held hands and walked into the doctors office.  I already had tears in my eyes. ” Your daughter has Classic Late Infantile Batten disease”.  “She will probably be blind by the age of  6 , and loose her ability to walk and talk and eventually will have to eat through a tube”.  Is this doctor for real?  Am I dreaming?  Wake me up…please wake me up…THIS IS A NIGHTMARE!

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