Family From Ireland Hopes Boston Doctors Can Save Boy’s Life

BOSTON (CBS) — Cian McDonnell-Lynch is just four years old. He’s been given until Christmas to live. His family, saying they refuse to give up, has traveled to Boston Children’s Hospital in the hopes that one of the world’s premiere hospitals can help keep him alive. Cian has been fighting an often deadly bone marrow disorder called Dyskeratosis Congenita since birth. “It’s a very rare disease,” his mother, Lisa McDonnell, told WBZ-TV Tuesday. “It affects one in a million. And Cian is actually at the more severe end of the syndrome.” Cian McDonnell-Lynch and his family in Boston (WBZ-TV) The disease left Cian permanently blind at the age of one. He did get a successful bone marrow transplant two years ago, but the disease is now affecting his lungs with another rare and deadly disorder, microscopic pulmonary AVMS. “They’re actually microscopic blood vessels; they’re malformations,” his mother explained. “And the oxygenated blood is not getting around to his whole body.” “We were told today that it’s actually progressing very quick, so we’re just really really hoping that he’ll be accepted onto the transplant list here in Boston.” Cian has been given only a few months to live. A double-lung transplant would likely save his life, but he was rejected for one at a hospital in London. “He was the first child that they’ve seen with this condi...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Health Local News Syndicated Local Cian McDonnell-Lynch Hope For Cian liam martin Source Type: news

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Authors: Riera-Mestre A, Ribas J, Castellote J Abstract Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Telangiectasia in the nasal mucosa cause recurrent epistaxis, the main symptom of HHT and difficult to control. The three types of hepatic shunting, hepatic artery to hepatic vein, hepatic artery to portal vein or to portal vein to hepatic vein, can cause hi...
Source: Medicina Clinica - Category: General Medicine Tags: Med Clin (Barc) Source Type: research
AbstractLaryngeal leiomyosarcoma is a rare smooth muscle malignancy of the head and neck region. Diagnosis is based on immunohistochemistry. Here we present a case of laryngeal leiomyosarcoma that was diagnosed and treated in our center, focusing on the clinical features, histological diagnosis and management of this rare disease.
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - Category: ENT & OMF Source Type: research
AbstractHere, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers –Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers–Danlos syndrome were included in the present study and underwent general physical, dental, and neurologica l examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain. Whole exome sequencing revealed heterozygousC1R mutations c.926G>T ...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Authors: Monagle P, Newall F Abstract Venous thrombosis (VTE) in children and neonates presents numerous management challenges. Although increasing in frequency, VTE in children and neonates is still uncommon compared with adults. The epidemiology of VTE is vastly different in neonates vs children vs adolescents vs adults. In reality, pediatric thrombosis should be viewed as a multitude of rare diseases (eg, renal vein thrombosis, spontaneous thrombosis, catheter-related thrombosis, cerebral sinovenous thrombosis), all requiring different approaches to diagnosis and with different short- and long-term consequences,...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
The new tool "KIT" in advanced systemic mastocytosis. Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):127-136 Authors: Shomali W, Gotlib J Abstract Mastocytosis is a rare disease characterized by KIT-driven expansion and accumulation of neoplastic mast cells in various tissues. Although mediator symptoms related to mast cell activation can impose a symptom burden in cutaneous disease and across the spectrum of systemic mastocytosis subtypes, the presence of an associated hematologic neoplasm and/or organ damage denotes advanced disease and the potential for increased morbidity and...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
ConclusionsOur results corroborate that cxSVs cause Mendelian disease, and we recommend their consideration during clinical investigations. We show that resolution of breakpoints can be critical to interpret pathogenicity and present evidence of replication-based mechanisms in cxSV formation.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
ConclusionArthroscopic treatment of synovial chondromatosis is a good option if expertise is available. It causes less surgical trauma, better visualization during surgery, early recovery.
Source: Annals of Medicine and Surgery - Category: General Medicine Source Type: research
The investigation examines the booming orphan drug business and how drug makers have rushed into the marketplace with hundreds of drugs for rare diseases.Kaiser Health News
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The 100,000 Genomes Project has reached its goal of sequencing 100,000 whole genomes from NHS patients. Established with the support of the MRC, the project began in 2012 to uncover new diagnoses and improved treatments for patients with rare diseases and cancer.
Source: Medical Research Council General News - Category: Research Source Type: news
(McGill University Health Centre) A team from the Research Institute of the McGill University Health Centre (RI-MUHC) led by Dr. Donald Vinh, the RI's so-called " Dr. House " because of his research into rare diseases, has discovered a new human disease and the gene responsible for it, paving the way for the proper diagnosis of patients globally and the development of new therapies. Their findings are published in the Journal of Experimental Medicine.
Source: EurekAlert! - Infectious and Emerging Diseases - Category: Infectious Diseases Source Type: news
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