Erin Roberts was born on April 5, 1980 in Hanover, Mass.  Daughter to Michael and Holly Roberts.  Later on, sister to Rebecca.  Erin is a 24 year young lady diagnosed with Niemann Pick Type C.  Type C Niemann-Pick, although similar in name to Types A and B, is very different at the biochemical and genetic level. Patients are not able to metabolize cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain.
[ Learn more about how cholesterol is metabolized in the cells. ]

Because the defect in metabolism in Type C occasionally leads to a secondary reduction in ASM activity in some cells, all three types were originally called Niemann-Pick Disease.

Type C Niemann-Pick has 300 to 400 cases diagnosed world wide. It is believed that the number of people affected is higher but it is often difficult for the correct diagnosis to be made. Niemann-Pick Type C has been initially diagnosed as a learning disability, mild retardation, "clumsiness", and delayed development of fine motor skills. Vertical gaze palsy (the inability to move the eyes up and down), enlarged liver, or enlarged spleen are strong indications that NPC should be considered.

There is considerable variation in when symptoms first appear and in the progression of the disease. Symptoms may appear as early as a few months old or as late as adulthood. In most cases, neurological symptoms begin appearing between the ages of 4 and 10. Generally, the later neurological symptoms begin, the slower the progression of the disease.

Type C is always fatal. The vast majority of children die before age 20 (and many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person to reach 40.

Erin recieved her diagnosis at the age of 16 and a half.  Although it was noted from the early age of 2 that something was just not right, it took all of those years to obtain a diagnosis.  Michael and Holly spent many sleepless nights and very long days trying to find answers for their precious daughters condition.  The day came when the diagnosis was finally obtained.  Devastating doesn't even describe the emotion that was put upon the Roberts.  Despite the pain and heartache, their long crusade began.  Michael and Holly have advocated day and night for Erin.  To this day they are her heros.  Erin lights up when her mom and dad enter a room.  Watching this family unite through the emotional ups and downs has inspired all whom are blessed enough to be in their path.  When you ask Michael or Holly how they do it?  Their answer is simply put.  Faith in God, and the love they share with both Erin and Becky. 

Today, Erin has endured many tough obstacles.  She has lost the ability to walk independently, and needs a specialized walker when she is strong, and a wheelchair most days.  The ability to eat by mouth has been taken away, and a g-tube was placed for nutrients.  She is slowly losing the ability to talk on most days, however on a good day she can still sing.  Her respiratory system has been very much affected and Erin must spend a great deal of time having nebulizer treatments, chest PT, anti-biotics, hospital visits, and having oxygen administered to her.  Her body is not able to tolerate the proper amount of nutrients to maintain her weight, resulting in a pretty consistant weight loss.  She  has gone from 110 pounds to her current weight of 66 pounds.  Despite all of these things, she looks into my eyes with those baby blues, and she smiles.  Erin has dual residences.  One home being a residential group home.  Erin recieves 24 hour care from support staff, nursing, and hospice.  Erin also spends time at her home with her mom, her Dad, and her sister Becky.

Despite the many physical challenges due to Erin's decline in health, her passions are still vibrant.  Erin loves to sing, and dance.  She loves to be surrounded by family and friends, and expecially likes just hanging out with her girlfriends who just happen to be her housemates.  10-04

Erin lost her life to this devastating disease on December 1, 2004.  She was surrounded by her family and peacefully returned to her home with her Angels, and Jesus.  We will forever have strength in knowing she no longer has NPD.  She is free once again to laugh, dance and sing.  And she will always be only a smile away from our hearts and minds.

 Please see the updates page for day to day happenings of the last three amazing weeks that we shared with Our Erin.