Jacob has been through so much in his 5 1/2 years of life. Yet, through it all he has kept a smile on his face. He brings so much joy to his family and friends. You can't help but fall in love with him when you meet him. Jacob is special, unique, and a role model to all of us through his joy and happiness.
Favorite Hobbies:
Jacob's favorite hobby is art projects...he is an artist. He adores coloring and painting! Like many of his MPS friends, Jacob also enjoys his TV time. He is especially fond of Dora and Blues Clues.
Proudest Accomplishment:
Jacob's proudest accomplishment, thus far, was beginning Developmental Kindergarten this past Fall. He rides the bus, participates with his class, and has a best friend. He loves the routine of his days and has grown by leaps and bounds throughout the year both developmentally, emotionally, and intellectually.
MPS Heroes:
"The medical professional who's had the greatest impact on Jacob's care and well-being is Dr. Joanne Kurtzberg. Dr. Kurtzberg is the Director of the Pediatric Blood and Marrow Transplant Program at Duke University Hospital. To us, she is simply Jake's doctor and the person who is working towards saving his life. Jacob had an unrelated umbilical cord blood transplant in May 2002 as treatment for his Hurler Syndrome at Duke. Dr. K has been with us throughout that experience and to this day. She is always available when needed and is one of the most knowledgeable people we know in the MPS world. We are confidant that she will be a part of Jacob's life forever and will continue to provide his care for as long as necessary. Dr. K is Jacob's MPS Hero!"
Words of Wisdom:
As parents, we know when something is not right with our children. Be persistent when searching for a diagnosis and do not lose hope!
Personal Diagnosis Experience:
Jacob's diagnosis was not made easily. Unfortuantely, he was our first child and although we started noticing things within the first week of bringing him home from the hospital these were disregarded by his pediatrician as our over-concern as first time parents. Sadly, many of Jake's symptoms were not put together. Jacob had an umbilical hernia, very loud breathing/snoring, and low tone from the day he was born. He developed torticolis and plagiocephaly due to low muscle tone. We noticed his kyphosis when he was 2 months old but again this was disregarded by his pediatrician. He stopped meeting his developmental milestones by 3 - 4 months of age and we were told that he was "lazy" and that some kids just take longer to do things. We were finally sent to an orthopedic surgeon for his kyphosis which eventually led us to a neurodevopmental specialist and finally a geneticist who took one look at him and knew that he had MPS. Within a week of this appointment, Jacob was diagnosed.
