Find out about your own medical history.
You can learn a lot of information from genetic testing and talking with family members.
NEXT: MEDICAL HISTORYPrevalence and impact
Some signs and symptoms of MPS I
Our understanding of the varied signs and symptoms of MPS I has evolved greatly over time. It is now perhaps more appropriate to view MPS I as a spectrum of disease. Although MPS I affects each individual differently, the following may occur in individuals with various severities.
Skeletal problems
Coarse facial features
Enlarged liver
Enlarged spleen
Corneal clouding
Short stature
Joint stiffness and pain
Carpal tunnel syndrome
Heart disease
Upper airway infections
Sleep apnea
Hernia
Hearing loss
Delayed cognitive development
How is MPS I passed
down in families?
While many genetic diseases are passed down through the generations in an obvious way, some genetic diseases are “hidden,” or recessive, and only show up when both genes in an individual are affected. MPS I is one such disease.
Inheritance of MPS I
As the inheritance pattern above describes, any child born of carrier parents has a 3 out of 4 (or 75%) chance of having at least 1 unaffected gene, and therefore no disease, and a 1 out of 4 (or 25%) chance of inheriting a copy of the altered gene from both parents and thus being affected with the disorder. There is also a 2 out of 3 (or 66%) chance that an unaffected offspring will still be a carrier of the defective gene that causes MPS I.
Creating Your Medical Family Tree
The first step in tracing MPS I in your family is creating a Medical Family Tree. A Medical Family Tree can help you understand the inheritance pattern in your family and the risk of passing on MPS I. A geneticist, genetic counselor, or Sanofi Genzyme CareConnectPSS® Patient Education Liaison (PEL) can help you create a Medical Family Tree and consider a family discussion.
PSS=Personalized Support Services.
Example of an MPS I Medical Family Tree
Living with MPS I can be tough…It’s normal to feel frustrated, and it’s OK; you are not alone. Your family, friends, and doctors are all there to help you.
~Kali, living with MPS I
Watch KALI’s JOURNEY
Talking about MPS I,
did you know?
Because MPS I is an inherited disorder, family screening is extremely important. When a diagnosis for an individual is made, it is important to find out whether other siblings may also be affected. A genetic counselor can be a valuable resource to help you understand how MPS I is inherited and to help determine if others in the family would want to consider genetic testing for MPS I as well. One-on-one assistance through a range of resources, programs, and other support offerings and information about the MPS I Registry program* is available through Sanofi Genzyme CareConnectPSS.
*The MPS I Registry program is a worldwide database that tracks health-related information for people with MPS I, allowing doctors and healthcare professionals to better understand this disorder.
Speak with a Patient Education Liaison today.
CONNECT NOWPSS=Personalized Support Services.
