A Closer Look at MPS 1: Symptoms, Care and Available Support
Understanding Life With MPS 1
A diagnosis of MPS 1 can bring many questions for individuals and families. What symptoms should you expect? How is the condition treated? Will care needs change over time? And where can families turn when healthcare expenses become difficult to manage?
Having reliable, easy-to-understand information can help patients and caregivers know what to expect and have more informed conversations with their healthcare providers. Here are some of the most important things to know about MPS 1, from its causes and symptoms to treatment and available support.
What Is MPS 1?
Mucopolysaccharidosis type I, more commonly called MPS 1, is a rare genetic condition that prevents the body from properly breaking down certain complex sugars.
Normally, an enzyme called alpha-L-iduronidase helps break down these substances so the body can process them. People with MPS 1 do not produce enough of this working enzyme, causing the sugars to gradually build up inside cells. Over time, that buildup can affect different tissues and organs throughout the body..
MPS 1 varies in severity. Some children develop serious symptoms during infancy, while people with milder forms may not experience noticeable symptoms until later in childhood. The type and severity of symptoms can also differ from one person to another
What Causes MPS I?
MPS I is inherited, meaning it is passed from parents to children through their genes. A child develops the condition when they inherit the genetic change associated with MPS 1 from both parents.
The parents are typically carriers, which means they have the genetic change but do not have MPS 1 themselves. When both parents are carriers, each pregnancy has a 25% chance that the child will have MPS 1, a 50% chance that the child will be a carrier and a 25% chance that the child will neither have MPS 1 nor be a carrier.
Families with MPS 1 may choose to speak with a genetic counselor to learn more about how the condition can be passed through a family and what that may mean for other relatives.
What Are the Symptoms of MPS 1?
Because MPS 1 can affect several areas of the body, there is no single set of symptoms that every person will experience. The age when symptoms begin and how quickly they progress can also vary.
Possible signs and health problems associated with MPS 1 include:
- Stiff joints or difficulty moving
- Bone and spine problems
- Short stature or changes in growth
- Frequent ear or respiratory infections
- Hearing loss
- Clouding of the clear front part of the eye, which can affect vision
- Heart valve problems
- An enlarged liver or spleen
- Breathing difficulties or sleep apnea
- Hernias
- Carpal tunnel syndrome
Severe MPS 1 can also affect learning and development. A child may initially develop as expected before their progress begins to slow or they lose some skills they previously learned. People with milder MPS 1 may have normal intellectual development, although some can experience learning difficulties.
How Is MPS 1 Diagnosed?
MPS 1 may be identified through newborn screening before symptoms appear, or doctors may begin testing after noticing symptoms that could be associated with the condition.
Confirming a diagnosis generally involves blood and urine tests that look for signs the body is not breaking down certain sugars properly. Genetic testing can also identify the inherited changes responsible for the condition.
Once MPS 1 is confirmed, doctors may perform additional evaluations to see how it has affected the person’s health. Depending on the patient’s age and symptoms, this may include examinations of the heart, lungs, hearing, vision, bones, joints and development.
An early diagnosis can make a meaningful difference. Some complications become difficult or impossible to reverse after they have progressed, making timely evaluation and treatment especially important
Treating and Managing MPS 1
Enzyme Replacement Therapy
One treatment is enzyme replacement therapy (ERT). It provides a manufactured version of the enzyme that people with MPS 1 do not produce in sufficient amounts. ERT is given by regular infusion. It can improve lung function and walking endurance, reduce enlargement of the liver and spleen, and ease some breathing problems. ERT does not cross easily into the brain, so it is not expected to prevent or reverse the effects of severe MPS 1 on learning and development. It may also have limited effects on some other problems, such as those involving the heart valves, eyes and bones. How much a person benefits varies with their age, the severity of their MPS 1 and when treatment begins.
Stem Cell Transplant
A stem cell transplant may be recommended for children with severe MPS 1. During this procedure, healthy blood-forming stem cells are introduced into the body.
For children with severe disease, a successful transplant can slow intellectual decline and improve survival, growth, hearing and some heart and breathing problems. The timing of treatment matters, and outcomes are generally better when the procedure takes place before the disease has caused significant developmental problems.
Treatment for MPS 1 may also include care for individual symptoms and complications. Someone with hearing loss, for example, may need hearing aids, while another person may need physical therapy for joint problems or treatment for breathing difficulties.
Regular monitoring is important because health needs can change as a person grows older. Depending on the individual, ongoing care may include appointments with specialists who focus on the heart, lungs, bones and joints, hearing, vision or development.
Navigating the Cost of Care with MPS 1
For patients and caregivers, managing MPS 1 can become part of everyday life. Medical appointments, treatments, therapies and other care needs may need to be balanced with school, work and family responsibilities.
There can also be a financial impact. Even with health insurance, copayments, coinsurance, deductibles and other healthcare-related expenses can add up, particularly when someone needs ongoing specialty care.
Accessia Health offers an MPS 1 Patient Program to support eligible individuals living with the condition.
Through available financial assistance, you or a loved one can receive support on qualified MPS 1 healthcare expenses such as copays, medication, insurance premiums, travel costs for treatment, and more.
