Hello everyone. Thank you for letting me join. My son, Eiden has complex medical needs and a few weeks ago we received a diagnosis through the Deciphering Developmental Delays research project. Hes been diagnosed with EDS progeroid- Galactosyltransferase 1 deficiency. They have only 1 other recorded case of the same gene mutation worldwide. Hes a happy boy but very small. At 3.5 years he is 74cm and 9kg, developmentally delayed to around 12 months . He is noisy but non verbal. His symptoms include cleft palate, phagiocephaly, ventricular assymetry, osteopenia (previous fractures to ribs and currently multiple fractures to spine), scoliosis/rotated rib cage, bilateral radioulnar synostosis, penoscrotal web, agranular neutrophils and platelets, heart murmur/ irregular heartbeat, marked hypermetropia, mild hearing loss, profound hypotonia, severe hypermobile joints, global developmental delay, sensory processing disorder, inability to control temperature/excessive sweating, gastroeosophagal reflux, gastrostomy fed (tube fed since birth), viscous secretions and apnea episodes at night. He is severely disabled and attends. SN school, attends the local hospice and has Overnight carers 5/7 days. Even with all his issues he is quite a character and his feet are like little hands (his elbows are fused so limited function in arms). He has his own FB page. https://facebook/pages/Fundraising-for-our-special-little-man-Eiden/346344552060601?fref=ts (Name misleading but we are not fundraising anymore but cant change the name).
Posted on: Sat, 17 May 2014 05:02:09 +0000
Trending Topics
Recently Viewed Topics
© 2015