Natalia is a brave seven-year-old girl, who was diagnosed a year ago, always has had an amazing disposition to be and have a life as normal as her disease permits it. She has done everything she's been asked to do without a fuss. She is a happy little girl. She is very aware that she has MPS I and she is also aware of her limitations, but she enjoys life even more so, perhaps more than any one else, and she'll try to do or achieve things that she knows are difficult for her, like swimming, dancing, and crafts.
Favorite Hobbies:
Natalia loves drawing, coloring and arts and crafts in general.
She loves skiing. Actually her flexed contracted posture help with staying on skis!
Now that she's in second grade, she is enjoying reading a lot and having play dates. When they come over, she shows them the pump we have in the house for the ERT, and when asked, shows them the mediport where she gets the infusion. All very naturally. MPS and the ERT are part of her life.
Proudest Accomplishment:
Keeping up at school despite missing so much school.
Accepting her illness very well. When she makes drawings about her self, she does so with the infusion and pump at home. She asked one day her mother, that when she goes to heaven, will she have to get her enzyme there. The day we told her as parents that we had found out she had an enzyme deficiency, she thanked us for letting her know "Now I know what is wrong with me"
MPS Heroes:
Foremost, Dr. Micheal Levien, her hematology-oncology pediatrician that takes care of Natalia. He is always there when we need him, any day, any time. He cares a lot about Natalia and Natalia knows it. Also The folks at Genzyme, Naomi Sullivan, and the representatives Francisco Abad who helped us so much. And finally for the Dant’s and the inventor of aldurazyme, Dr. Emil Kakkis who never gave up with the help of the Ryan Foundation. And of course, the inventor of the medi-port !
Words of Wisdom:
If you, as a parent think there's something not quite right with your child, don't trust anybody till you find someone that listens to you and does something about it. Also, talk to your child about the illness, they know more than you think, and they have natural inquisitive minds. Natalia, at the recommendation of a good doctor, really appreciated when we told her what enzymes do, and this helped her get through the workups and starting treatment. And lots of love.
Personal Diagnosis Experience:
Natalia began having nasty ear infections at age four months old. Big abdomen, never crawled, then age three they told us she had a benign heart murmur. Everything was "normal" they said. Me, Natalia's mom always had the "feeling" something was going on. So kept pushing the doctors. She underwent EMG, biopsy, a further consultations. By age six a very smart medical geneticist, Dr. Irving Shaffer, got the answer to the mystery. By then she had a severe neuropathy in both hands, some corneal clouding, and enlarged liver and spleen, muscle and joint stiffness.
