TALIA'S DREAM AFTER HER NEW LEG

TALIA'S DREAM AFTER HER NEW LEG IS TO BE ABLE TO BE LIKE A NORMAL KID AND GO TO THE THEME PARKS. DUE TO HAVING TO WAIT FOR THE NEW LEG AND NOT HAVING FUNDING TO BE ABLE TO DO SO. 

HI MY NAME IS TALIA CAN YOU PLEASE READ MY STORY AND HELP ME ON MY WAY. THANK YOU EVERYONE.

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Talia was born at 36 weeks and 4 days she was diagnosed with congenital pseudarthrosis caused by neurofibromatosis which is nf1 basically another join in the tibia which the tibia became bent and about 10 months old Talia had rodding put in through the tibia to help straighten talia had 3 of them done. But that didn't work n as a result that it didn't work she had to have an amputation done so they took it at the ankle and not even a year later they said it hadn't what so they said that tollywood need another amputation that they will go higher above the bend end result of that Talia now has to wear a prosthetic leg Talia and that time has gone through hell and back after surgery from surgery all from when she was 10 months old and now we're looking at another surgery because the leg is not doing what it should be and result of that they're talking about going above the knee and now Spurs and the bottom of her Stomp which has been causing somewhat pain talia goes back to the orthopaedic doctors every couple of months to have X-rays and medication checks she even Sees ots dietitians and other medical practice as result of this condition we have been told Talia can get tumours and cancer and she can go blind we are starting to notice a talia will need to wear glasses and talia has come a long way in that time and we're trying to raise money for her new leg and for her doctor's appointment her leg is 4500 and her Blade Runner is 7500 so by helping to do the his we might be able to raise some of what we need.  And here is s little about she has  Summary 1 Neurofibromatosis 1 (NF1), also called von Recklinghausen's disease, is a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots), freckling in atypical locations such as under the arms (axillary region) or in the groin (inguinal region). Such abnormalities of skin pigmentation are often evident by one year of age and tend to increase in size and number over time. At birth or early childhood, affected individuals may have relatively large, benign tumors that consist of bundles of nerves and other tissue (plexiform neurofibromas). Individuals with NF1 may also develop benign nodules on the colored regions of the eyes (Lisch nodules), or tumors in the nerves of the visual pathway (optic pathway gliomas). More rarely, affected individuals may develop certain malignant (cancerous) tumors. NF1 may also be characterized by an unusually large head size (macrocephaly) and relatively short stature. Additional abnormalities may also be present, such as episodes of uncontrolled electrical activity in the brain (seizures); learning disabilities, and attention deficits; speech difficulties; abnormally increased activity (hyperactivity); and skeletal malformations, including progressive curvature of the spine (scoliosis), bowing of the lower legs (pseudoarthrosis), and improper development of certain bones. Associated symptoms and findings may vary greatly in range and severity from person to person, even within the same family. Most people with NF1 have normal intelligence but learning disabilities appear in about 50% of children with NF1. NF1 is caused by changes (mutations) in a gene called NF1, which is found on chromosome 17. This gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor. In about 50 percent of individuals with NF1, the disorder results from spontaneous (sporadic) mutations of the gene that occur for unknown reasons. Such individuals do not inherit NF1 from their parents, but rather they are the first in their family with the disorder. In others, NF1 is inherited as an autosomal dominant trait. Causes In about 50% of individuals with NF1, the disorder is inherited from a parent. Only one parent need be affected to cause a child to have NF1 (i.e. autosomal dominant disease). NF1 does not skip generations. Sporadic or random mutations in the gene responsible for NF1 account for the remaining 50% of cases, and occur when a child has NF1 but neither parent does. The NF1 gene, a remarkably large gene, has been mapped to chromosome 17q11, and has one of the highest known mutation rates (1:10,000) for any human gene. The causes of this high rate of mutation are still under investigation, and may be due (in part) to the large size of the gene leading to a greater chance of random error during cellular growth. The NF1 gene regulates (encodes for) the production of neurofibromin, a protein that functions to prevent the development of tumors (tumor suppressor). Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin or decreased expression of neurofibromin, thereby dysregulating cellular growth and division. Whereas there are two functional copies of every gene in the human body, and only one copy of the NF1 gene is mutated in all tissues due to its autosomal dominant nature, a second mutation event is necessary in a given cell to completely lose neurofibromin’s tumor suppressor activity and cause a tumor in that region. Several different mutations of the NF1gene have been identified in individuals with the disorder (i.e., deletions, insertions, point mutations). Investigators have determined that some severely affected individuals may have a deletion of the entire NF1 gene as well as deletion of material from other adjacent genes (contiguous genes), potentially contributing to the wide variability of symptoms and findings in those with the disorder. A more localized form of NF1 (segmental NF1) is caused by a genetic change in the NF1 gene that is not inherited, but rather occurs sporadically during embryo development (somatic mutation). Only a portion of the cells in the body have the disease-causing NF1 mutation (genetic mosaicism), and so signs and symptoms of segmental NF1 often appear in only a portion of the body. The NF1 mutation responsible for a segmental NF1 case may be inherited by offspring and cause full NF1; the risk of this transmission is not well understood, and likely depends on the distribution of mutated cells in the parent. Affected Populations NF1 is a rare disorder that affects males and females in equal numbers. NF1 affects all races and ethnic groups equally and is estimated to occur in 1 in 2,500 to 3,000 births.  Now here is what congenital pseudarthrosis is Congenital Pseudarthrosis of the Tibia Content Area Congenital pseudarthrosis of the tibia (CPT) refers to nonunion of a tibial fracture that develops spontaneously or after a minor trauma. A pseudarthrosis is defined as a “false joint” and is a break in the bone that fails to heal on its own. The pseudarthrosis usually develops within the first two years of life; however, there have been reported cases of CPT development before birth as well as later in life. Congenital pseudarthrosis of the tibia is a very rare condition, occurring in only 1 out of 250,000 births. The cause of CPT is currently unknown; however, there is a strong association with neurofibromatosis in 50% of cases and and an association with fibrous dysplasia in 10% of cases. Reports indicate the pathologic processes of CPT are linked to the periosteum, which forms the outer layer of bones and is crucial for regrowth following a fracture. Patients with CPT have a thick scar layer surrounding their bones rather than the periosteum. For this reason, once a fracture has occurred it will not heal spontaneously. The current theory on the mechanism of CPT is that there is a lack of blood supply to the periosteum caused by an accumulation of nerve cells that destroy the blood vessels connected to the periosteum. This leads to low oxygen in the periosteum (known as hypoxemia). Since the periosteum is responsible for bone growth, this results in weakening of the bone. Congenital pseudarthrosis of the tibia remains one of the most challenging and misunderstood conditions in orthopedics. The difficulty of treatment lies in the weak healing power at the fracture site, a tendency to refracture after treatment, and the difficulty of stabilizing small osteoporotic bone fragments in small children. Even in cases where a union has been achieved, there is a difficulty in maintaining it. Frequently, the end result is a frustrated child and family who have been through multiple failed surgeries and remain with a limb that is short, deformed, and almost functionless. For this reason, many orthopedic surgeons recommend amputation, particularly after a third failed surgery. That is a photo of talia leg

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These next photos are of her leg and when she was in hospital as a baby 

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And this is her leg today 

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SO THANK YOU FOR TAKING YOUR TO READ TALIA'S STORY

Donations

  • Mark Halse 
    • $100 
    • 1 mo

Organizer

Kristy Brown 
Organizer
Miara, QLD

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