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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Conclusions Epidemiological studies have repeatedly helped identify definitive triggers for several diseases. As highlighted in this perspective report, previous studies strongly argue for the interplay between intrinsic factors and putative preventable extrinsic triggers/promoters for CTCL. Given the evidence of geographical regional clustering of CTCL patients, CTCL occurrence in unrelated family members and recent evidence implicating S. aureus in the pathogenesis/progression of CTCL, more research is needed to decipher the precise mechanism by which specific environmental exposures may be driving the pathogenesis of t...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In conclusion, we reported a CIAD case with two novel mutations that presented with recurrent seizures and hypoglycemia. When an infant shows recurrent hypoglycemia, with seizures and low plasma levels of ACTH and cortisol, CIAD should be take into consideration, even if the patient has other hormonal abnormalities. Genetic analysis is a powerful tool to confirm the diagnosis, which helped us to identify two novel mutations in our patient. In addition, the lack of an obvious circadian rhythm of ACTH and cortisol before treatment may be a specific characteristic of this disease. Ethics Statement This study was carried out...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
WARNING: GRAPHIC CONTENT An unnamed 42-year-old woman from Iran visited a dermatologist complaining of overgrown gums. She was diagnosed with a rare condition called 'strawberry gingivitis'.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2), which can ultimately hinder blood flow to the brain and result in strokes. The treatment works by blocking the inflammatory effects of a protein - tumor necrosis factor - that is over-produced in people with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April 18, 2019, issue ofThe New England Journal of Medicine.
Source: NHGRI Homepage Highlights - Category: Genetics & Stem Cells Source Type: news
Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Diksha Singh, Pragya Pandey, Manish Kumar Singh, Shailesh KudvaJournal of Oral and Maxillofacial Pathology 2019 23(1):129-135 Oral malignant melanoma (OMM) is a very rare disease entity accounting <1% of all other melanomas. Till date, no comprehensive meta-analysis has been conducted regarding the prevalence of malignant melanoma in the oral cavity. Therefore, the present meta-analysis was conducted to update on the prevalence of malignant melanoma in anatomical sites of the oral cavity. Literature search was performed to congregate reports of last 10 years using databases, such as PubMed and ScienceDirect. The s...
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
This study aimed to evaluate current trends in treatment and survival of pleomorphic carcinoma.
Source: The Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Source Type: research
Conclusion Figure 4 shows that the 27 different molecular defects within the ALB so far reported to cause CAA are located in ten different exons (1, 3, 4, 5, 7, 8, 9, 10, 11, and 12) and in seven different introns (1, 2, 3, 6, 10, 11, and 12) (The Albumin Website, 2018; Caridi et al., 2019). Variations in the last two coding exons (13 and 14) would probably cause the presence of a circulating C-terminal variant of the protein and not CAA. The first twelve exons of ALB, with the exception of the two shortest, exons 2 and 6, were reported to contain at least one molecular defect resulting in CAA (The Albumin Website, 2018; ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsThis is the first systematic report which shows that patients with MMA are at high risk to be falsely diagnosed and treated. Depiction of typical vascular abnormalities in angiopathy is essential. Normal CSF cell counts, negative oligoclonal bands, and lack of infratentorial lesions as well as gadolinium-positive T1 lesions on MRI may be red flags differentiating this vasculopathy from vasculitis and MS.
Source: Journal of Neurology - Category: Neurology Source Type: research
Conclusions We propose to include the presence of upper extremity involvement in Romanini's TBN classification (TBNS) for optimal management of these patients and use a standard number and profile for image documentation presurgery and postsurgery. We found that in the literature the ratio of men and women with PS was not 2 to 3:1, but 1:1. The most frequent phenotype of PS was T1B1N1S0 (hypoplasia or aplasia of the pectoralis muscles and soft tissue/breast hypoplasia/nipple-areolar complex with dislocation of
Source: Annals of Plastic Surgery - Category: Cosmetic Surgery Tags: Breast Surgery Source Type: research
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