Joseph M. - Quilt Finished in 2008

Born: November 20, 2005

Illness: Mosaic Down Syndrome, Infantile Spasms

Joseph's Story

Written by Joseph's mom in September 2007

Joseph was born on November 20, 2005 at 10:17 a.m. Little did I know at that time that I just had given birth to a very special and very rare child who will bring me more joy than I ever could've imagined. 

My pregnancy was a text book pregnancy with no complications or cause for concern and everything was fine until Joseph got to the age of 7 months.  Joseph was unknowingly born with Mosaic Down Syndrome, which is a very rare form of Down Syndrome where only some of the cells have an extra chromosome and the rest are typical cells...kinda hard to explain! 

Due to Joseph not being full Downs he doesn't have most of the facial features as one would typically see in a Down Syndrome child and he developed on time until roughly around 7 months of age, so in the beginning nobody ever suspected little Joseph was disabled.  We started to notice that Joseph wasn't matching up with more complicated milestones and seemed to have very weak and floppy legs, long story short, well kinda short :)  He was diagnosed with Mosaic Down syndrome or MDS and we had noticed slight head drops that he had been doing since 12 months that turned out to be a kind of seizure disorder, a very rare and catastrophic form epilepsy known as infantile spasms or I.S.

In the end with Joseph's dual diagnosis of MDS and IS we were told by our geneticist that the odds of having a child with both these disabilities is well over 1 in a million...told you he was rare!  The geneticist told us that Joseph was only the second child he has ever seen in over 20 years with the MDS and IS combo diagnosis.  After his diagnosis was given we were rushed into Sutter Memorial Hospital to start horrible ACTH injections.  We lost his laughs and his smile for 8 weeks and all he would do is cry.  IS can be commonly found with full downs but never mosaic downs which is what makes his IS diagnosis so rare. 

Joseph is involved in many early interventions such as developmental, occupational and speech therapies and very rigorous physical therapy, he is VERY low tone and weak in his legs and might not ever be able to walk unassisted if at all....but we do remain positive and hopeful despite this news.  Joseph is very developmentally delayed, his seizures have made it difficult for him to develop, he is now about 22 months old and is only developmentally that of a 7-8 month old.

His most recent achievement was learning to self feed and we are so very proud of him!  I love my son more than anything and I wouldn't change him for the world.  He has taught me so much about life and myself and I can't thank the Lord enough for giving me the blessing of raising my over 1 in a million special little guy!  We have heard all the grim statistics about Infantile Spasms and despite what the doctors tell us we know that he will grow up and go very far in life.  He has proven the doctors wrong on more than one occasion and I know he will continue to do so.  Thanks for reading Joseph's story thus far.