Brianna Nicholle Burkett Hello, My name is Yulinda Burkett, I am a single mother of two wonderful girls. My oldest is Donika; She is 10 years old. Donika keeps me very busy. Donika is currently in 4th grade, an honor student, active in Cross Country,4-H, Softball, Cheer Leading, and Swimming. Donika is a very active child with lots of friends. Donkia is also a BIG help with her little sister Brianna. Brianna was born September 22, 1994 she is now 6 years old. After a good 24hours laboring, she was born a normal full term vaginal delivery.  Brianna was jaundice after birth and required 24 hour lighting. When the nurse would bring her to me she would tremor (arms & legs). Right away I had that maternal instinct that something was not right. I thought that maybe the stress I endured while pregnant had something to do with it. I was pregnant and Brianna's father and I split up. Also my grandmother, uncle, two cousins, and an aunt all passed away while I was pregnant. It was a very stressful and emotionally difficult pregnancy. After I brought Brianna home from the hospital I right away took her to her pediatrician and asked about her tremmoring. He tells me not to worry about it, that it was just tremmors of childhood. It will go away. I did not believe that so I went to yet another doctor and then again another doctor, all telling me the same thing. Tremmors of childhood it will pass. But those knowing of tremmors of childhood, when their limbs are shaking and you lightly touch them it will stop.  With Brianna when she would shake you had to hold her kind of tightly to get her to stop. I just felt inside that is not true. So, again in yet her first month of life, I went to another doctor. When we saw her she said that there is definitely something going on with her. She started her series of blood and urine testing, all coming back normal. December 20th we were referred to her geneticist/neurologist. Who in turn said yes there is something going on and he too started his round of testing. Over the next few months Brianna went through CT scans, MRI's, blood work, urine test, EEG's, Ultrasounds... Just about anything you could imagine. The doctor was saying it is just a process of elimination. At this point we had no clue what was not allowing my wonderful little angel to sit without support, not be able to roll over, not babbling, feeding was very difficult. Stiff muscle tone, sleepless nights, crying all the time unless she was being held and walked around.  No answers to what or why this was going on. Then on June 5, 1995 Brianna was 9 1/2 months old. We got our call to come into the doctors office he has some news for us. We went in right away. The doctor had us sit down (me, my mom, & Brianna). Then he begins our nightmare. "Your daughter has a life threatening genetic brain disorder called Canavan Leukodystrophy..." I sit there completely numb as he continues, "There is at this time no known cures or treatments, most children with this disease live to be only 2-3 years of age." I cry. My mom cries. I hold Brianna and cry. Why, how, now what do we do...? How am I to go home and tell my family and a 4 year old big sister that her little sister is dying of a rare disease. How am I supposed to go on?  What would I do if I lost my Brianna. He also tells us that all we can do is keep her as comfortable and loose (muscles) as we can as long as we can. That was the worst day of my life. One that is sure to never be forgotten. Canavan Disease is a rare genetic brain disease inherited through both mother and father. The gene mutation prevents the production of an enzyme called Aspartoacyclase. Without this enzyme and acid called N-Acetylaspartate builds up and starts destroying the myelin, which is the central nervous system's white matter. The myelin in the brain and spinal cord ensures that nerve impulses are properly transmitted from one part of the body to another. The destruction of myelin leaves Canavan Children incapable of performing the simplest functions: holding up their head, sitting, crawling, and ever saying "I LOVE YOU MOMMY". But we started to get on with our lives. We didn’t look at Brianna as a child that was dying. We looked at her as a "regular" child that just needs a little extra special care. She continued in her Early Intervention class, with her PT, ST, VT, and OT. We just looked at today as today’s problems, yesterday can stay there and tomorrow I will deal with when it comes. Then one day in July 1996 a friend of mine sent me a copy of an article from a magazine that she felt I would be interested in. This article told of two girls that had Canavan and were going to New Zealand to undergo an experimental gene therapy treatment. It was not a cure there was no definite outcomes for they were the first two to ever undergo this.  But, it was a ray of hope. I immediately wrote them a letter wishing them well and told them of Brianna. I received a letter back stating that Brianna could possibly be part of the trials. I had to fill out a bunch of paper work and my neurologist had to fill out some forms. We had to go to Philadelphia and get MRI, and MR Spectroscopy, not to mention evoke potentials and psychiatry evaluation done.  After all that we were told that she qualified to be part of the trials. We were told to wait for the call to tell us when to go to New Zealand for her treatment. So we went out right away and got our passports. We also started our fundraising, having our first in September 1996. We got a few different calls telling us to be there on this day, and then have them call and say that it wasn’t going to work yet. Then they got FDA approval for the trial to be done here in the US. We were ecstatic so much closer to home. In March 1998 we got that call. We had less than 24 hours to get all arrangements made and be at Yale New Haven Hospital in Connecticut. But we made it with no problems, other than almost missing a connecting flight. Talk about an hysterical mother. Brianna received her treatment and after being gone for two weeks we returned home. Since Brianna's treatment 3 years ago she has had an increase in head control, her vision had improved, she could sit for 30- 45 seconds without support, her muscles were not as stiff, she was much happier and most importantly she has had no further deterioration in her white matter. We are now currently awaiting FDA approval for her to receive a second treatment with their new "improved" vector. With the new modern day technology and medical treatments the age range for these children has improved a bit. They now say the majority live between the ages of 3-10 years, some make it into teen-hood.   Some operations Brianna has had:  February 1997 G-tube placement, Brianna was 2 - 1/2 years old. She was eating but not enough to keep herself hydrated. We found ourselves in the hospital every other week for dehydration.  March 1998 Her First Gene Therapy Treatment November 1999 Nissen Fundoplication was done to help in preventing her from vomiting so often. This operation was messed up by the fact that the wrap was done too tight and the doctor moved her g-tube from it’s current location just left of the belly button to up under the left ribcage so close that when you would sit her up it would rub. This operation caused Brianna a great deal of retching. November 2000 Brianna had her esophagus dilated to loosen the wrap, and had her g-tube moved back to its original location just left of the belly button. This has decreased her retching quite a bit. We went from about 5-6 times a day to 1 maybe 2 times a day now. Possible future dilations of the esophagus may be needed for the stretching can contract back to it’s tight position. Brianna has had a good number of hospital visits.  For numerous illnesses. Pneumonia, bronchitis, URI, RSV, Roto Virus, dehydration. She has also had a number of ear and sinus infections. Brianna sees a lot of different doctors as well, Her primary care physician (pcp), neurologist/geneticist, gastrologist (feeding tube doctor), dietitionist, orthopedic specialist, pediatric endocronologist (he deals with central precocious puberty, which is when young children start to develop puberty early). The doctor feels that Brianna's has gone back into a dormant stage and will just monitor her for now. Brianna also goes to an allergist.   Brianna has an allergy to RED DYES, ragweed, cottonwood, dustmites, pollen, and molds. He also tested her immune system to see where it stands and she is borderline low, which means she is easy acceptable to typical everyday illnesses. Knowing this we have Brianna home schooled as well as the PT, OT, VT, and ST come to our home for her therapy.  We do this to help in preventing her from getting ill. Brianna is on Tegrotol for seizures, senokot to keep her stools soft, andphoslo ( a calcium acetate). She use to take clonopin for relaxing her muscles, and when she was real young we occasionally gave her chlorahydrate to help her sleep at night. I only would use this if she was having a bad night and I was too tired to stay up anymore with her. It was an absolute last resort for me. My only one main recommendation for any child's parent that is planning to undergo an operation to make sure if there is time to research it first. If I had been able to do this Brianna would not have had the troubles with her Nissen operation. There were tests that should have been performed that were not. Had I known of these before hand I could have mentioned them.  Please if possible make sure you research it first and don’t be afraid to tell the doctor what you think is best for your child for you know your child better than any doctor ever will.   Brianna may not be able to walk with me, or talk to me, eat pizza with me, or even sit on the couch with me without support. She may not even be able to say "I love you mommy", but I know she loves me. She will tell me in her own way. I can see it in her eyes when they light up if she hears my voice or she sees me walk in a room. I can hear it in her laughter when I play with her, I can even feel it when I hold her and she cuddles up to me. She tells me in her own special way, she is her own normal person in her own unique way. And nothing can change that. Brianna and her sister are a true joy and blessing, and I thank God everyday for them. To learn more about Canavan Leukodystrophy you can visit Canavan Research Foundation.                                                                   Yulinda Burkett       : Background Set ©1999-2005 Our God Reigns Ministries, Janette Stewart