Aug 16, 2006 Latest post:
Aug 14, 2020
Welcome to Julianna's webpage. In January 2007, Julianna dx with rare metabolic disorder causes to have degeneration of the central nervous system called Mitochondrial Myopathy..they thought. Now in 2009 they are saying she must have a genetic disorder also. New testing has begun. Suspected metabolic disorder as of 5/2009. Julianna is part of palliate care at her hospital. Jesu s 2020: Video (copy and paste to view) Jesus 2020: Video
I was born on December 7, 04. I can not eat solid foods, walk, crawl, roll, talk, see or sit alone. I was born, a full term baby. I was sent home with mommy and daddy, at the time doctors said no problems. A few days later I sounded stuffy. Went to the Dr. nothing. Went to the ER nothing Staten Island University Hospital. Finally, around 4 months old I got the chicken pox. Let's not forget the rash on the left side of my face that took forever to go away. So mommy and daddy began asking around but no one was concerned. We moved to NJ and was told that a little early intervention would not hurt. I was just a girl and needed a little exercise. We went to see a dev. peds. who said I had more going on than just a little girlishness 9/1/2005 Schneider's children's hospital. Then I went to Neurologists 7/2005 Rusk Institute NYC, said they couldn't find anything. They even did an MRI. Then I went to an eye Dr. Wang 2005 who said I had Cortical Blindness possibly caused by a mito condition. Then I went to Boston Children's 1/2006 dad took me all alone on a red eye to be tested. Yup cortical blindness/optic atrophy. Then we heard about a hospital called CHOP, we applied, they sent a package full of papers. Daddy received the letter saying that they would call us in March of 2006 for an appt in June 2006 with their Dev. Peds. This letter came in 8/2005. No way said, my parents. Meanwhile, we went to see a genetic Dr. at St. Chris PA. 9/2005. Who also sent us to CHOP. We called every department. Spent hours telling anyone who would listen about me...finally an apt with an orthopedist at CHOP October 2005. Then I saw a physiatrist who said I have some kind of axial damage. Met with the genetic doctor who called in the neurologist Jan. 2006. During the visit I became sicker and sicker I was hospitalized for a UTI. During the stay they referred us to feeding and swallowing clinic. Went to a metabolic doctor. My new MRI shows lipoma and softening of the white matter and also areas that are oxygen deprived. We had no idea. Until my MRI in the summer of 2006. The first-time neuro said he thought I had some kind of unknown of Mito. All along we thought I would be fine. Just a little delayed. Cerebral Palsy at worst. Test for Rhett's nope. Then in JAN 2007 AFTER TUBES, BIOPSIES. They LOWERED THE BOOM. Mito, not just any old kind either mine very unspecified kind. My mommy and daddy and siblings just took me home and continue to spoil me. I am included in everything and loved to pieces. Love the dance lessons from daddies arms. Mommies get up and go, just gets ahead of her sometimes..lol. My brothers and sister..think, I am one of the gang. They are always aware of me and tell me everything. I believe that Jesus is the way. HE IS MY LORD AND SAVIOR! I have been dedicated to him. My EEG shows lots of activity. But my MRI/MRS showed a water Lipoma, PVL, wasting, diffuse cerebral atrophy, encephalomyopathy, microcephalic,. They say my outlook is poor. Jesus loves the little children, so how can I go wrong. I hope. My parents hope. Those who spend time with me hope. My daily supplements and medications begin at 12 am, 1, 3 7, 8, 9, 10, 11, 1 pm, 2, 3, 4, 5, 6, 7, 8, 10, 11 pm. All go into my G-feeding tube. Into my J-tube I received 19 hours of formula feeding at 45 MLS an hour. With J-tube water (bottled only) flushes that start at 1 am, 2, 3, 6, 7, 8, 11, 1 pm, 2, 4, 6, 8, 11. ( update 2019 g-meds every hour except for 4 pm int he afternoon, formula rate is 50 mls. per hour, J-tube also accepts salt, probiotic. Weekly I have 2 teachers, 1 PT, 1 OT, 1 SP and 16 hours(most of the time) of nursing. 2019 I am homebound to avoid unnecessary communicable illnesses. I receive a Special Education teacher daily, 2/30 1 hour sessions of PT weekly, 2/45 minute sessions of OT weekly, 1/ 1 hour SP weekly, Commission of the Blind comes out every 6 weeks. I sit in my Positional chair (not my wheelchair that has outside germs on it, we clean it and leave it in the car as it is for transportation. The wheels go on all kinds of surfaces and yuck). I am in my stander Daily for up to two hours. I wear scoliosis back brace not meant to prevent my curvature just help me support my trunk. I wear a hand splint on my right hand as it has an awful twist. I wear a neck brace when my head gets tired, I wear dofo's, Dr. Wayne LaWall in Lawrenceville, NJ just hooks me up. I am styling after he is done. Imagine the water bill? Electricity, paper towels, bathroom tissue, hand soap, Purell, cleaning products, it takes to support 7 people in the household and an additional 21 people a week. All the thermometers we go through, baby wipes, diaper creams, Tylenol, Advil, Pedialyte, nasal drops, baby bathe lotions, purified water, uncovered supplements, the gas, the tolls. All the cost that a baby grows out of I will not. We try to treat the people kindly who take care of me so we supply coffee, tea, sugar, and creamer because you have to give a little something back to the people that show up to take care of the boobah with us. Many of them have an extra special person too. All of my doctors are all in Philly. My CHOP pediatrician is in Mt. Holly. They are great! I have my own nurse I can call and leave a message for when I am yucky. She knows all about me. Julianna does have medical Medicaid UHC a community waiver. She does not receive SSI or SSI Medicaid denied disabled without payment. It is secondary to her primary that does not cover supplements. It cost thousands of dollars + (not including illness meds) a year just for her co-pays and supplements. To visit every one of her doctor's once a year ( which you know that is not the case), not including gas, tolls and parking garage fees. This can be so overwhelming, but thank God for the village. Thank you for being part of the solution. It takes a team of hearts. As she gets older folks move on. Signs age and weather. We are still praying and fighting for a tiny space in the world. I pray for an elected official to come along that puts kids like me on a ballot. Someone who says let's stop painting rainbows but make some happen. Let's make an accessible vehicle truly accessible as hardly anyone can afford one. Let's make home accessibility part of insurance coverage. After all, don't I have a CHOICE too? All the "normal" folks want one. How about us extra special ones. We didn't create our situation or live a lifestyle to put us here. We were knitted together in a womb and here we are. An accessible ramp should not be a luxury. I'm 90 pounds. It takes 3 people to carry me out of my house. How long will I have that? I love my family who is here for me. They will one day need to be one their own and soar like eagles so I can cheer them up a hill, new job, new wife, husband, kids and all the things a sister gets to cheer about. Least I could do after all they have given me.
Kif1a newest dx. Confirmed through genome testing. Still a lot but we all just move along...