from: sophiasgarden 1 year ago

Niemann-Pick Disease Type A (NPD-A) is a genetic metabolic disorder. It is a rare disease which occurs largely in certain ethnic groups. Due to its rarity, it is difficult to diagnosis and considered untreatable by Western medicine. Based on the theory, diagnosis and therapeutic methods of Traditional Chinese Medicine (TCM) Pediatrics, the author has implemented a regular course of herbs, acupuncture and an over 2000 year old, Chinese baby Tuina (massage) treatments for the NPA child. This treatment plan is designed to stimulate immunity and detoxification, as well as to improve the immune, neurological and digestive systems.

Tags: niemann_pick_disease sophias_garden traditional_chinese_medi... tcm integrative_medicine

from: sophiasgarden 1 year ago

Tags: traditional_chinese_medi... tcm life-threatening family-centered healthcare

from: sophiasgarden 1 year ago

The decision to bring a child into a pool that has a life threatening illness requires careful consideration, enthusiastic and dedicated parents and cooperative pool management. Aquatic specialists who accept these medically fragile children into their practices need to be highly skilled, be aware of disease progression, and be able to adapt their handling skills to the child's specific needs. The goal of aquatic therapy for medically fragile children with life threatening illness is to improve quality of life, provide palliative care, and in some facilities, end of life care.

Tags: life-threatening terminally-ill children sophias_garden integrative_medicine

from: sophiasgarden 1 year ago

A 34-month female with Niemann-Pick Disease, Type A (NPD-A) is presented. NPD-A is a rare autosomal recessive, hereditary lysosomal storage disease caused by reduced acid sphingomyelinase (ASM) activity. Reduced sphingomyelinase activity resulting in impaired sphingomyelin turnover leads to cellular lipid and lysosomal storage (foam cells), hepatosplenomegaly, delay and loss of developmental milestones, and degenerative neurologic deficits. Death occurs in infancy or early childhood, with the usual life span being 2-3 years. No effective treatment for NPD-A is known, although bone marrow transplantation and enzyme replacement therapy with ASM have been attempted. [Both have been tried for NPD-B, but I do not know if either of these techniques have been tried for NPD-A. This is true that no successful treatment has been demonstrated for humans with NPD-A, yet the Genzyme studies using adeno viruses were successful for mice. See . Stem cell and gene therapy research is being investigated in animal models. This child is known to have an unusual stop-codon mutation. Aminoglycosides have been found in animal and small-scale human studies to cause read-through in translation effectively skipping the “stop-codon” and are in clinical trials in other genetic diseases with similar mutations. It was hypothesized that gentamicin would cause read-through in translation in this patient, and thereby increase production of acid sphingomyelinase. After presentation to the Ethics Committee of Lucile Salter Packard Children’s Hospital at Stanford University, the child was treated with an experimental protocol using intranasal gentamicin. This is the first case of NPD-A in which this has been tried. This patient has also been treated with Traditional Chinese Medicine including acupuncture and botanicals, massage therapy, nutritional measures, homeopathy, energy healing and compassionate intention in an Integrative Medicine approach. Disease characteristics, clinical features and course will be described.

Tags: quality_of_life niemann_pick_disease sophias_garden genetics pharmacogenomics

from: sophiasgarden 1 year ago

As hospice patients approach the end of life there are several valuable life tasks to perform. The use of integrative therapies allows patients and families to perform these tasks and connect the past, present, and future to self, each other and their community. Therapies such as aromatherapy, relaxation skills, massage, Reiki, music, animal assisted activities, or art, provide comfort to patients and families as well as helping them to incorporate important cultural traditions during the end of life. Aromatherapy, massage, Reiki and relaxation skills help to relieve pain, alleviate anxiety, and treat side effects from medication. Through techniques such as music, art, animal assisted activities and guided imagery, patients are able to find meaning in life, share feelings with others and connect to life events. This workshop will give participants a clear understanding of how integrative therapies may be used at the end of life and the rationale for using specific methods. Case studies of an actual hospice patient, and her use of integrative therapies, will demonstrate the profound effect these techniques can have on patients and families, while on hospice. Case study include a 2 ½ year old pediatric patient with Niemann-Pick Disease, Type A. Finally, a template will be provided to help participants develop and implement their own Integrative Therapies Program.

Tags: quality_of_life sophias_garden niemann_pick_disease integrative_therapies children

from: sophiasgarden 6 months ago

An integrated, Web-based survival kit for families of children with life-threatening conditions that informs, supports and enables families to harness the power of community to address all of their needs—physical, emotional, financial, social, cultural and spiritual.

Tags: life-threatening family-centered healthcare health collaboration