Father who lived with rare disease for 40 years finally diagnosed after doctor see him tie his shoelaces

Butcher Ian Redfern was with his daughter Evie at The Children’s Hospital in Sheffield, for treatment for her condition Ehlers Danlos Syndrome, when he was diagnosed.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Conclusions: LYG, an angiodestructive disease associated with EBV reactivation in the context of immune dysfunction and often associated with an aggressive behavior or even malignant transformation, should be considered as a rare differential diagnosis of TN associated with skull base lesions. The management of this rare disease is still controversial and varies from limiting the treatment to correcting immune dysfunction up to chemotherapy. In this case of an isolated mass, surgical excision and discontinuation of immunosuppressants were effective to prevent the relapse of the disease in a long-term follow-up. PMID: 30105142 [PubMed]
Source: Surgical Neurology International - Category: Neurosurgery Tags: Surg Neurol Int Source Type: research
CONCLUSIONS: Acquired hemophilia A is a rare but potentially severe disease, which may be idiopathic or linked to a solid tumor. The severity of AHA depends on both the volume of hemorrhage and the presence of associated diseases. PMID: 30098880 [PubMed - as supplied by publisher]
Source: Revue des Maladies Respiratoires - Category: Respiratory Medicine Tags: Rev Mal Respir Source Type: research
We describe our experience with thoracoscopic esophagomyotomy in this population.
Source: Journal of Pediatric Surgery - Category: Surgery Authors: Source Type: research
Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted th...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period.
Source: Journal of Bronchology and Interventional Pulmonology - Category: Respiratory Medicine Tags: Case Reports Source Type: research
Cambridge, MA – September 25, 2017 -- Acer Therapeutics Inc., (Nasdaq: ACER), a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and ultra-rare diseases with critical unmet medical...
Source: Drugs.com - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple organs. It is associat...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
The role of physical trauma in the onset of symptoms in Ehlers-Danlos syndrome (EDS) has never been characterized. We sought to search and describe brain lesions EDS patients also having personal history of ph...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
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