Rosie was given the name "Rock Star" by her nurses because of her positive attitude, incredible strength and charismatic personality.
In spite of living with many chronic and life threatening conditions for over half her life Rosie's enthusiasm for living and sharing have never waned. Her contagious smile, infectious laugh and incredible spirit make her who she is today.
To find out more about Rosie's couragous journey and medical conditions click on the right column.
Most cases of NF1 are mild to moderate. NF1 can lead to disfigurement; blindness; skeletal abnormalities; dermal, brain and spinal tumors; loss of limbs; malignancies; and learning disabilities."
source: Children's Tumor Foundation website
How Rosie is affected: Rosie has the most common type of neurofibromatosis, called NF1. She has hundreds of café-au-lait spots all over her body, which is just a characteristic of NF, they are darker pigmented spots on her skin; they don't hurt or bother her in anyway. Another indicator of NF1 is freckling which Rosie has around her neck, in her armpits, called axillary freckling and around her groin, called, inguinal freckling; just another strong indicator of the disorder.
In addition, Rosie has Lisch nodules, clumps of pigment found in the iris (colored part) of her eyes. These spots do not cause medical problems either or affect vision, but when present, they are another way to confirm a diagnosis of NF1.
Rosie also has neurofibromas, these benign growths typically develop on, or just underneath, the surface of the skin. They are the most common type of tumors with NF1. Rosie has 6 now but she could get several hundred more. She also experiences itching of the skin or pruritus, yet another complication of NF.
We are also watching her for learning disabilities as her school work gets harder; kids with NF1 are five times more likely to have learning disabilities than kids in the general population.
The scary thing about NF is the unpredictability of it; the severity of the manifestations differs from person to person. Rosie unfortunately has one of the most rare and unique cases they have ever seen at Children's. Rosie's collection of complications occurs in fewer than 0.5% of cases, maybe less, of people with NF1. The extremely rare complications of the disorder are listed below.
What is being done to help Rosie: Rosie is monitored very carefully by a large team of doctors and specialists, including: a genetic counseling team, neurosurgery, cardiology, hematology/neuro-oncology, a neurologist, endocrinology, neurofibromatosis specialists, ophthalmology, gastroenterology, general surgery, sleep medicine/pulmonologist, allergist/dermatology, and medical psychologist/psychiatrist. On average she has 1-3 doctors appointments each week. Her care is very complex and difficult to coordinate; meetings with all her specialist is often called for to coordination her care. Rosie's mom is her case manager; stand in nurse and primary care giver, keeping her many medications and appointments straight and her doctors informed.
How Rosie is affected: Rosie's main brain tumor is a Hypothalamic/Chiasm Optic Glioma. It is an inoperable brain tumor located in the center of the brain and the one that causes all the problems. Since January of 2011, there is now a small spot, cyst or tumor, possibly another glioma in the right temporal lobe; it's about the size of a large pea. It has shown growth gradually over the last three scans, but since it remains small, they still can't really evaluate it very well yet. There is also a small subcortical (the region of the brain that is below the cortex) that is now showing a white spot on her latest MRI too. They previously found white/light gray spots in the brainstem and deep cerebellar remain unchanged on Rosie's latest MRI's, but they are constantly being watch for any changes as well.
The Hypothalamic/Chiasm Optic Glioma or main tumor, and the other tumors, are a direct result of her NF, but all her other diagnoses are a direct result of the main tumors location.
What is being done to help Rosie: Rosie has been on three different chemotherapy treatments or protocols. She has received 142 doses of chemo to date.
Medical definition: Hydrocephalus is a buildup of fluid inside the skull, leading to brain swelling. Hydrocephalus means "water on the brain."
How it affects Rosie: The bottom of the main tumor sits in the third ventricle, blocking brain fluid from flowing through the brain, like it should. This blockage caused a second life-threatening condition called Acquired Obstructive Hydrocephalus.
What is being done to help Rosie: Rosie had to have a "drain" or a ventriculoperitoneal (VP) Shunt, placed in her head to drain excess brain fluid. When the drain doesn't work, gets clogged or malfunctions, it's got to be replaced or fixed. This requires another brain surgery. Rosie has had five shunt malfunctions, each requiring brain surgeries.
Medical definition: Central precocious puberty (CPP) often begins before age eight in girls. In central precocious puberty, the hypothalamic-pituitary-gonadal (HPG) axis activates too soon and the normal process of puberty begins. Central precocious puberty occurs in one out of every 5,000 to 10,000 children, and is much more common in girls than in boys.
Source: CPPParents.com
How it affects Rosie: Rosie's brain tumor, which is located near the hypothalamus, caused her Central Precocious Puberty.
What is being done to help Rosie: Rosie has an implant in her arm that helps regulate her hormones. She will have surgery each year until she reached the age of puberty to replace the implant.
Medical definition: Excessive growth due to chronic overactivity of the pituitary gland which is located at the base of the brain. Growth hormone (GH) is specifically made by the anterior pituitary gland.
In pituitary gigantism, there is secretion of too much growth hormone before the end of adolescence. People with pituitary gigantism can truly be giants. They can sometimes end up over 7 or 8 feet in height.
source: MedicineNet.com
How it affects Rosie: The main brain tumor messes with Rosie pituitary gland which is the cause of her Pituitary Gigantism.
What is being done to help Rosie: She receives daily injections to slow down her excessive levels of growth hormones.
Medical definition: Optic Nerve Atrophy (ONA) is a permanent visual impairment caused by damage to the optic nerve. The optic nerve functions like a cable carrying information from the eye to be processed by the brain. The optic nerve is comprised of over a million small nerve fibers (axons). When some of these nerve fibers are damaged through disease, the brain doesn't receive complete vision information and sight becomes blurred. Atrophy (wasting away) may be partial in which some axons are damaged or profound in which most axons are damaged. A child's ability to see clearly (visual acuity) is affected due to nerve damage that occurs in the central part of the retina responsible for detail and color vision (macula). These areas of the eye are more vulnerable to the effects of atrophy. ONA is the end result of damage to the optic nerve. It can affect one or both eyes. It may also be progressive, depending on the cause.
source: Texas School for the Blind and Visually Impaired
How it affects Rosie: Rosie has tumors on her optic nerves which have caused her Bilateral Optic Nerve Atrophy.
What is being done to help Rosie: Rosie needs eye examinations ever 2-6 weeks.
Medical definition: High blood pressure
How it affects Rosie:If Rosie's blood pressure gets too high it can over work her heart, which could lead to a heart attack or stroke.
What is being done to help Rosie: Rosie takes 4-5 medications daily to try to control her blood pressure.