This is Trayn’s Story about Living with Alpha-Mannosidosis and how the family of a teenager with a rare genetic disease copes with the affects of the disorder and how she gets her wish to meet her idols.
Our son and daughter, Timothy and Hollie are twins, born 14 November 1974. They were premature (about one month). There were some early indicators that it was more than just a rough start for them, but nothing really clear till they were about one year old and a number of milestones were not met on time.
Jenny Smith’s journey began, unbeknownst to her family at the time, many years ago when Dianne says, Jenny experienced a series of seemingly unrelated physical challenges. Through a succession of specialists the real cause lay hidden, until the fall of 1998, when at the age of 22, Jenny’s true diagnosis, Alpha-Mannosidosis, was found.
This is the ongoing journal of Robert Stark’s fight against Alpha-Mannosidosis via Bone Marrow Transplant. Families and caregivers of children with mannosidosis and other Lysosomal Diseases face complex decisions about the future. It is the hope of Robert’s parents, Kathleen and Mark, that the pages within will prove helpful when such decisions must be made.
Luke was diagnosed with alpha-mannosidosis when he was 5. He underwent a bone marrow transplant in September 2010, 5 months after being diagnosed. We believe the bone marrow transplant has helped treat some of the symptoms of this disorder.
On January 2, 1997 my 3 year old son, Brian Reese received the devastating diagnosis of Alpha Mannosidosis. My husband and I were obviously shocked and saddened by this news. We were initially told that there was no cure, no treatment. Take your son home, love him, enjoy him, and keep him comfortable as best you can. There was little known about Alpha Mannosidosis at that time. We were told that children with this diagnosis have an unpredictable life expectancy. There is no way to know if a person will survive childhood or live into adulthood. The future that we (that ALL parents) dreamed of for our son was no longer possible. We didn't know where to turn.
Staffy’s blog written by her parents documenting her journey through Bone Marrow Transplant.
It took us 16 years to learn our children’s correct diagnosis. Observing mine and other kids throughout many years, I came to believe that my sons’ delays were not all I’ve been told; there was something else standing between my kids and their ability to become what they want to be.
My little “Ivan The Great” was diagnosed January 2011 with Galactosialidosis and am told it is EXTREMELY rare. I will never forget the day I found out his diagnosis and on top of that, that there is no cure or treatment for it. I felt like my heart was ripped right out from my chest. The whole world and how I perceived it changed instantly. I viewed the world and people in a whole new way.
Madison’s mum April has put together a video in tribute to her beautiful daughter and is thrilled to be able to share it with other families.
Jenny Noble, from Tauranga New Zealand recounts their family's experience with Mucolipidosis III alpha/beta, and details the dramatic improvements to Hayden and Sarah’s health and quality of life, following a trial of Pamidronate to treat the secondary bone disease that became such a significant problem in their teenage years.
Juanita talks about Damian and Jesse-Rose's journey to diagnosis and beyond. She also says, If anyone asks me emotionally how we have been going, I let them know we are positive and doing what we can to make the kids lives easier. It's hard to say out loud that there are times when I feel devastated, times when I feel like I could fall into a dark pit and never come out again. There are many times when I feel powerless in changing anything, so I pray! I pray that we find at the very least a treatment that means they have minimal pain, that they can have functioning useful lives and contribute to society. I pray mostly that we find a cure.
Whatever our journey is, it will be one that is perhaps more heartfelt and precious than it might have been prior to receiving this diagnosis.
Sialidosis is one of the Oligosaccharide family of Lysosomal Storage Diseases. The International Society for Mannosidosis & Related Diseases is proud to present the story of Alexander Skojec and his family’s fight, through the intervention of his father, to raise awareness for this very rare disorder.