Mucopolysaccharidosis Type VII

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Where can I find pictures of other people with Mucopolysaccharidosis Type VII?

Visit http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf

to see some pictures of people living with mucopolysaccharidosis type VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
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How long do people with Mucopolysaccharidosis Type VII usually live?

Do people with Mucopolysaccharidosis Type VII have normal intelligence?

How many people around the world have Mucopolysaccharidosis Type VII?

Are there special modifications I need to make to my house for my child with Mucopolysaccharidosis Type VII?

Are there school specific accommodations my child with Mucopolysaccharidosis Type VII may need?

Does everyone with Mucopolysaccharidosis Type VII have skeletal problems?

Does everyone with Mucopolysaccharidosis Type VII have heart problems?

Does everyone with Mucopolysaccharidosis Type VII have a large liver or spleen?

Does everyone with Mucopolysaccharidosis Type VII have hearing loss?

Does everyone with Mucopolysaccharidosis Type VII have vision loss?

Does everyone with Mucopolysaccharidosis Type VII have growth problems?

Can people with Mucopolysaccharidosis Type VII use growth hormone?

Can people with Mucopolysaccharidosis Type VII have children?

How do I know if I could have a child with Mucopolysaccharidosis Type VII?

I am currently pregnant; can I find out if my child has Mucopolysaccharidosis Type VII before they are born?

How can I educate my doctor about Mucopolysaccharidosis Type VII?

How can I find a doctor near me that has experience treating people with Mucopolysaccharidosis Type VII?

How old would a person be when they start showing signs of Mucopolysaccharidosis Type VII?

How can a stem cell transplant help with the symptoms of Mucopolysaccharidosis Type VII?

My partner and I are carriers of Mucopolysaccharidosis Type VII and already have a child with this condition. What is the chance that we would have another child with this condition?

Will my child with Mucopolysaccharidosis Type VII be able to live independently?

Do people with Mucopolysaccharidosis Type VII that have a hematopoietic stem cell transplant (HSCT) live longer than those that don't?

What sort of management for skeletal problems is available for people with Mucopolysaccharidosis Type VII?

What sort of management for heart problems is available for people with Mucopolysaccharidosis Type VII?

What sort of management for eye problems is available for people with Mucopolysaccharidosis Type VII?

Are there other eye problems besides corneal clouding that people with Mucopolysaccharidosis Type VII can have?

Can hearing problems associated with Mucopolysaccharidosis Type VII worsen?

What are some of the specific skeletal problems that people with Mucopolysaccharidosis Type VII can have?

What are some of the Ear-Nose-and Throat problems that people with Mucopolysaccharidosis Type VII can have?

What management is available for the lung and breathing problems that people with Mucopolysaccharidosis Type VII can have?

How can an amniocentesis tell me if my baby has Mucopolysaccharidosis Type VII?

How can a chorionic villus sampling (CVS) tell me if my baby has Mucopolysaccharidosis Type VII?

If my baby has Mucopolysaccharidosis Type VII, will this condition cause any problems for him or her before birth?

What management is available for the sleep apnea that can be caused by Mucopolysaccharidosis Type VII?

Are there any surgeries that could be helpful for people with Mucopolysaccharidosis Type VII?

I am a carrier of Mucopolysaccharidosis Type VII. How do I find out if my children could be at risk to have Mucopolysaccharidosis Type VII?

Are there certain jobs people with Mucopolysaccharidosis Type VII should avoid?

Are there certain sports or other activities people with Mucopolysaccharidosis Type VII should avoid?

How much does having a hematopoietic stem cell transplant (HSCT) cost for MPS VII?

Is there enzyme replacement therapy (ERT) available for people with Mucopolysaccharidosis Type VII?

What is gene therapy and how does this relate to Mucopolysaccharidosis Type VII?

Is gene therapy available for people with Mucopolysaccharidosis Type VII?

Can a bone marrow transplant help with the symptoms of Mucopolysaccharidosis Type VII?

Are problems during pregnancy common for people with Mucopolysaccharidosis Type VII?

If two people with Mucopolysaccharidosis Type VII have a child, will their child also have Mucopolysaccharidosis Type VII?

If more than one person in the same family has Mucopolysaccharidosis Type VII, will they all have similar symptoms?

Is Mucopolysaccharidosis Type VII found in other animals or just in humans?

Does the type of genetic changes a person has in the GUSB gene impact the type of symptoms they may have associated with Mucopolysaccharidosis Type VII?

How much &#946-glucuronidase enzyme activity is considered to be normal?

How much &#946-glucuronidase enzyme activity do people with Mucopolysaccharidosis Type VII usually have?

Are there other conditions where people may have high levels of dermatan sulfate and heparan sulfate in their urine besides Mucopolysaccharidosis Type VII?

Can measuring &#946-glucuronidase enzyme activity help determine if someone is a carrier of Mucopolysaccharidosis Type VII?

Can occupational therapy help the symptoms of Mucopolysaccharidosis Type VII?

Can physical therapy help the symptoms of Mucopolysaccharidosis Type VII?

Can speech therapy help the symptoms of Mucopolysaccharidosis Type VII?

Is there a specific diet that people with Mucopolysaccharidosis Type VII should follow?

Can people with Mucopolysaccharidosis Type VII have anesthesia during surgery?

What can I do if my child with Mucopolysaccharidosis Type VII has behavioral problems or signs of depression?

Why do some people with Mucopolysaccharidosis Type VII have very cold hands and feet?

Why do some people with Mucopolysaccharidosis Type VII have a hard time with blood draws?

Where can caregivers of people with Mucopolysaccharidosis Type VII get support?

Are infections something that is common in people with Mucopolysaccharidosis Type VII?

Will my child with Mucopolysaccharidosis Type VII go through puberty at the same time as their peers?

I have MPS VII and my doctor says I have "dysostosis multiplex;" what does that mean?

How long do people with Mucopolysaccharidosis Type VII usually live?

Some people with mucopolysaccharidosis type VII (MPS VII) have severe symptoms before they are even born and this causes a buildup of fluid in different parts of the body. Without early and immediate treatment, babies with this buildup of fluid (hydrops fetalis) often pass away before birth or soon after birth. Other people with the severe form of MPS VII may die before their teenage years. Those with moderate symptoms of MPS VII may live into young adulthood, while those with mild (attenuated) MPS VII can have a reasonably normal lifespan. Because different people with MPS VII have differences in how severe their disease is, it is difficult to predict the exact lifespan of a person with this condition. When begun early, studies have shown that the enzyme replacement therapy (ERT)for Mucopolysaccharidosis Type VII (MPS VII) known as MEPSEVII™ (vestronidase alfa) has increased life expectancy and quality of life in babies affected with MPS VII. Over time we will know more information about the probability that being treated with ERT will help people live longer, better quality lives.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • Ultragenyx Pharmaceutical website, accessed 19APR18 http://www.mepsevii.com/about-mepsevii/potential-benefits/
  • Fox JE, Volpe L, Bullaro J, Kakkis ED, Sly WS. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab. 2015 Feb;114(2):203-8. doi: 10.1016/j.ymgme.2014.10.017. Epub 2014 Nov 7. Accessed online 19APR18: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360956/
  • Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E.A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. Mol Genet Metab. 2018 Apr;123(4):488-494. doi: 10.1016/j.ymgme.2018.02.006. Epub 2018 Feb 12. accessed 19APR18 https://www.ncbi.nlm.nih.gov/pubmed/29478819
Do people with Mucopolysaccharidosis Type VII have normal intelligence?

Because people with mucopolysaccharidosis type VII (MPS Type VII) can have a buildup of glycosaminoglycans (GAGs) in different parts of the body, including the brain, there is a spectrum of how intelligence can be affected in people with MPS type VII. People with severe forms of MPS Type VII usually have slowed development in the first three years of and progressively lose developmental milestones until death. Some people with MPS type VII learn to walk and talk, while others may only learn to say a few years before the regression of developmental skills begins. Some people with mild forms of MPS type VII have normal or close to normal intelligence.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
How many people around the world have Mucopolysaccharidosis Type VII?

MPS VII is the rarest of the MPS disorders. It is estimated that less than 1 in every 250,000 people have mucopolysaccharidosis type VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Are there special modifications I need to make to my house for my child with Mucopolysaccharidosis Type VII?

The need to make modifications to the home of a person with mucopolysaccharidosis type VII is individual. As people with mucopolysaccharidosis type VII age, they may become less and less mobile, requiring more adaptations to the home. Several people with mucopolysaccharidosis type VII may be in wheelchairs and need specific home modifications related to this mobility restriction.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Are there school specific accommodations my child with Mucopolysaccharidosis Type VII may need?

Children with mucopolysaccharidosis type VII may need specific and individualized resources in school. These may include a one-on-one school assistant, special school furniture, or individual assistance for their school needs. It is important that your school and their staff know about the resources that your child may need so that they can make sure these resources are available.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Does everyone with Mucopolysaccharidosis Type VII have skeletal problems?

Mucopolysaccharidosis type VII is a condition that affects different people differently, however, almost everyone with mucopolysaccharidosis type VII has some skeletal problems that affects their height and the way that their bones form. The most common skeletal problems that people with mucopolysaccharidosis type VII have are abnormally shaped back bones (vertebrae) and ribs, enlarged skull, too small and too thick leg bones (hypoplastic epiphyses and thickened diaphyses) and bullet-shaped finger and toe bones (metacarpals).

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Does everyone with Mucopolysaccharidosis Type VII have heart problems?

Heart disease and problems with the heart as a result of breathing problems can be common in people with mucopolysaccharidosis type VII, but not everyone with mucopolysaccharidosis has problems with their heart. The most common heart problems that people with mucopolysaccharidosis type VII have are weakened heart valves and weakened arteries caused by the buildup of glycosaminoglycans (GAGs) in these parts of the heart.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Does everyone with Mucopolysaccharidosis Type VII have a large liver or spleen?

Most people with mucopolysaccharidosis type VII have an enlarged liver and spleen because of the buildup of glycosaminoglycans (GAGs) caused by their genetic changes in the GUSB gene. Even though most people with mucopolysaccharidosis type VII will have an enlarged liver and spleen, there may be some people with this condition who do not have this medical issue.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Does everyone with Mucopolysaccharidosis Type VII have hearing loss?

Some degree of hearing loss is common in people with mucopolysaccharidosis type VII, but there may be people with this condition who do not have hearing loss. Hearing loss may be due to conductive or nerve deafness or both. Repeat ear infections often expedite hearing loss. Seeking care by an audiologist is advised to monitor hearing.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Does everyone with Mucopolysaccharidosis Type VII have vision loss?

Eye problems that cause vision loss are a common problem for people with mucopolysaccharidosis type VII, but there are some people with this condition who will not have vision loss. The most common eye problems in mucopolysaccharidosis type VII are clouding of the cornea from the buildup of glycosaminoglycans (GAGs), or diseases where the main nerve in the eye, the optic nerve, is damaged (glaucoma). These eye problems can cause problems with vision or blindness.

Some individuals have difficulty tolerating bright lights due to uneven refraction of light. Sunglasses and baseball caps are helpful.

Corneal transplants are successful; however, there are times when a repeat transplant is necessary.

Retina problems can also occur due to MPS VII and cause problems with the retinal Retinal changes can cause night blindness and loss of vision completely. A visit to an ophthalmologist (eye doctor) is important.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Does everyone with Mucopolysaccharidosis Type VII have growth problems?

Because of the bone problems that people with mucopolysaccharidosis type VII have, most people with this condition have significantly less than normal height for their age. The specific height of those with mucopolysaccharidosis type VII varies from person to person.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Can people with Mucopolysaccharidosis Type VII use growth hormone?

There are no clinical trials or published research articles describing the use of growth hormone for people with mucopolysaccharidosis type VII. Growth hormone is usually not provided for people with mucopolysaccharidosis type VII since there are often more pressing medical concerns, but talk with your doctor if this is something you would like more information about.

References
  • https://clinicaltrials.gov/ct2/results?term=mps+vii&Search=Search
Can people with Mucopolysaccharidosis Type VII have children?

Mucopolysaccharidosis Type VII does not affect a person's ability to get pregnant. However, since individuals with mucopolysaccharidosis type VII often have severe medical problems and live shorter lives than usual, people with mucopolysaccharidosis type VII do not usually have children of their own.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
How do I know if I could have a child with Mucopolysaccharidosis Type VII?

People with mucopolysaccharidosis type VII usually get their two genetic changes in the GUSB gene that causes this condition from their parents. One of these genetic changes comes from each of their parents and this makes their parents "carriers" of mucopolysaccharidosis type VII. Carriers of a condition usually don't have medical problems, but can have a child with the condition that they are a carrier of. To find out if you are a carrier, you can talk to a doctor or genetic counselor about carrier testing for mucopolysaccharidosis Type VII and other genetic conditions. If you are found to be a carrier of mucopolysaccharidosis type VII, you have a 25% chance to have a child with mucopolysaccharidosis type VII if your partner that you are having a child with is also a carrier of mucopolysaccharidosis type VII.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
  • http://mpssociety.org/mps/mps-vii/
I am currently pregnant; can I find out if my child has Mucopolysaccharidosis Type VII before they are born?

If you are currently pregnant and are concerned that your new baby could have mucopolysaccharidosis type VII, there are certain procedures a person can have during or before their pregnancy to find out if their baby has mucopolysaccharidosis type VII before they are actually born. Some of these include chorionic villus sampling (CVS) or an amniocentesis. In general, genetic testing is only available during a pregnancy when the genetic changes have already been found in the family. A medical geneticist or a genetic counselor can help talk to you about these options and what information may be needed before you can have a procedure like one of these.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
How can I educate my doctor about Mucopolysaccharidosis Type VII?

You can provide your doctor with education materials such as the information booklets found at http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf or https://rarediseases.org/rare-diseases/sly-syndrome/.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf https://rarediseases.org/rare-diseases/sly-syndrome/
How can I find a doctor near me that has experience treating people with Mucopolysaccharidosis Type VII?

To find a doctor or center that specializes in metabolic genetic conditions or lysosomal storage disorders like mucopolysaccharidosis type VII in the United States, you can access the list of centers compiled by the National Mucopolysaccharidosis Society by visiting http://mpssociety.org/treatments/resources/ and clicking the "MPS Genetic Centers" Link to download the corresponding Excel file. Another option to access this file is to go directly to http://mpssociety.org/wp-content/uploads/2015/03/Tertiary-Care-Centers.xlsx.

References
  • http://mpssociety.org/treatments/resources/
  • http://mpssociety.org/wp-content/uploads/2015/03/Tertiary-Care-Centers.xlsx
How old would a person be when they start showing signs of Mucopolysaccharidosis Type VII?

People with mucopolysaccharidosis type VII are usually diagnosed by their symptoms of the condition anywhere between birth and 7 years of age, depending on the severity of their symptoms. Because different people with mucopolysaccharidosis type VII have differences in the severity of their disease, it is difficult to know exactly at which point of early childhood a person may start showing signs of this condition if they have mucopolysaccharidosis type VII.

References
  • https://www.orpha.net/data/patho/Pub/en/Mucopolysaccharidoses_En_2013.pdf
How can a stem cell transplant help with the symptoms of Mucopolysaccharidosis Type VII?

A hematopoietic stem cell transplant or HSCT replaces the missing β-glucuronidase enzyme in people with mucopolysaccharidosis type VII. This can improve some of the symptoms like a large liver and spleen, joint stiffness, heart problems, some breathing problems, and hearing loss. A HSCT does not usually improve the problems with the bones, problems with the eyes, or the problems that people can have with their mental development and the brain. HCST has significant risks to the person undergoing the procedure. The risks and benefits of HSCT should be discussed with your doctor.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
My partner and I are carriers of Mucopolysaccharidosis Type VII and already have a child with this condition. What is the chance that we would have another child with this condition?

If you and your partner are both carriers for the gene responsible for MPS VII, there is a 25% (1 in 4) chance for each of your children to be affected with mucopolysaccharidosis type VII.

References
  • http://omim.org/entry/253220
Will my child with Mucopolysaccharidosis Type VII be able to live independently?

tMany people with mucopolysaccharidosis Type VII have medical problems that can prevent them from living into adulthood or living independently because of medical restrictions. However, MPS VII is a variable disease and there may be some people who live into adulthood and can live somewhat independently without help from others. Mental capacity based on the severity of disease is another factor that plays a big role in whether or not a person with MPS VII may be able to live on their own.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Do people with Mucopolysaccharidosis Type VII that have a hematopoietic stem cell transplant (HSCT) live longer than those that don't?

A hematopoietic stem cell transplant (HSCT) can improve the levels of β-glucuronidase in the body to treat some of the symptoms of MPSVII. A HSCT does not usually improve the problems with the bones, problems with the eyes, or the problems that people with mucopolysaccharidosis type VII can have with their mental development and the brain. While a HCST can improve some of the medical problems and quality of life issues for people with MPS VII, a HCST has significant risks to the person undergoing the procedure, including the possibility of death. For this reason, it is difficult to conclusively say whether or not having an HSCT would extend the lifespan of a person with mucopolysaccharidosis VII. late 2017, there is no research about the effect of HSCT on lifespan in people with this condition. The risks and benefits of HSCT should be discussed with your doctor.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What sort of management for skeletal problems is available for people with Mucopolysaccharidosis Type VII?

There are certain surgeries that can be done to try to improve the severity of joint and bone problems that people with MPS VII. These surgeries can be to fuse some of the bones to prevent more damage or to get rid of some of the pressure that is put on the spinal cord. Anti-inflammatory medications like ibuprofen can also be used to reduce some of the joint pain that people with mucopolysaccharidosis type VII may have. Talking MPS VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What sort of management for heart problems is available for people with Mucopolysaccharidosis Type VII?

Heart problems are common in people who have MPS VII, but may not be present until later in life. The most common heart problems that people with mucopolysaccharidosis type VII have are weakened heart valves or arteries by the buildup of glycosaminoglycans (GAGs) in the heart. Some people may need to take medications or have surgery to help with their heart problems, while other people may need to just be monitored by their cardiologist with a test called an echocardiogram. It is helpful to be followed by a cardiologist that knows about MPS VII or to give information to your doctor about the type of heart problems people with this condition can have.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What sort of management for eye problems is available for people with Mucopolysaccharidosis Type VII?

People with MPS VII should have an eye doctor called an ophthalmologist who can check them regularly for vision and other eye problems. Corrective lenses can also help some of the vision problems associated with this condition. Some people with mucopolysaccharidosis type VII cannot look at bright light. For these people, wearing hats that cover the eyes or sunglasses can help. Some people with mucopolysaccharidosis type VII may also have medication or a corneal transplant to help improve their vision if their corneas have clouding that causes vision loss.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Are there other eye problems besides corneal clouding that people with Mucopolysaccharidosis Type VII can have?

In addition to corneal clouding, people with mucopolysaccharidosis type VII can have glaucoma, a problem where the optic nerve has damage and can cause blindness. People with this condition can also have strabismus (also known as being cross-eyed) and smaller visual fields than normal.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://omim.org/entry/253220
Can hearing problems associated with Mucopolysaccharidosis Type VII worsen?

Some of the hearing problems associated with MPS VII are made worse by frequent ear infections. There are medications people can take to prevent and treat these types of infections. For people with mucopolysaccharidosis type VII that have conductive hearing loss, there are a few types of ear tubes that can be inserted surgically to remove fluid and improve hearing. For people with this condition that have sensorineural, or nerve, hearing loss, hearing aids can be used to improve hearing.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What are some of the specific skeletal problems that people with Mucopolysaccharidosis Type VII can have?

People with MPS VII can have vertebrae in their back that are not as strong or developed as they are in other people. This can cause a curve of the spine and it can be slight or more severe depending on the person. The bones that connect the neck and the head can also be abnormal and make the neck unstable in people with MPS VII. People with this condition can walk with their hips and knees flexed and may have knock-knees, also called genu valgum. Hands and feet in these individuals can be short and broad with fingers and toes bent. Almost everyone with mucopolysaccharidosis type VII has some joint stiffness and this can cause pain later in life.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What are some of the Ear-Nose-and Throat problems that people with Mucopolysaccharidosis Type VII can have?

People with MPS VII can have ear problems including frequent ear infections and hearing loss. They can also have problems keeping their airway open and breathing properly because of abnormal bone shapes and the buildup of storage material in the body. This causes some medical problems like runny noses, chronic sinus infections, enlarged tonsils, enlarged adenoids, and sleep apnea, or trouble breathing while sleeping.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What management is available for the lung and breathing problems that people with Mucopolysaccharidosis Type VII can have?

People with MPS VII can be evaluated by a pulmonologist for lung and other breathing problems. Vaccinations against diseases like the flu can be beneficial to prevent pneumonia and other respiratory infections. Because the airway can be difficult for enough air to pass through, people with mucopolysaccharidosis type VII should have their airway looked at before they have anesthesia for surgery or other procedures. In this case, it is important to have an anesthesiologist who is used to working with difficult airways so that anesthesia during surgery can be successful in people with mucopolysaccharidosis type VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
How can an amniocentesis tell me if my baby has Mucopolysaccharidosis Type VII?

An amniocentesis is a procedure during pregnancy where some of the amniotic fluid is removed from around the baby and is tested. If there are known genetic changes for MPS VII in the family, genetic testing could be done on the cells in amniotic fluid to see if the baby has two changes for mucopolysaccharidosis type VII, meaning that they have this condition. Talk to a doctor or a genetic counselor about the possibility of this testing if it is something you are interested in learning more about.

References
  • https://rarediseases.org/rare-diseases/sly-syndrome/
How can a chorionic villus sampling (CVS) tell me if my baby has Mucopolysaccharidosis Type VII?

A chorionic villus sampling, or CVS, is a procedure during pregnancy where some of the finger-like pieces, or villi, of the placenta is removed and is tested. If there are known genetic changes for MPS VII in the family, genetic testing can be done on these villi to see if the baby has two changes for MPS VII, meaning that they have this condition. Talk to a doctor or a genetic counselor about the possibility of this testing if it is something you are interested in learning more about.

References
  • https://rarediseases.org/rare-diseases/sly-syndrome/
If my baby has Mucopolysaccharidosis Type VII, will this condition cause any problems for him or her before birth?

Mucopolysaccharidosis Type VII affects different people differently and not all children with MPS VII will show signs of the condition before birth. Most people with MPS VII have symptoms that lead to diagnosis between birth and 7 years of age regardless of the severity of their condition. However, babies with the most severe form of mucopolysaccharidosis type VII can have buildup of fluid in different parts of the body before birth. Babies with this severe buildup of fluid (hydrops fetalis) often pass away before or soon after birth.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
What management is available for the sleep apnea that can be caused by Mucopolysaccharidosis Type VII?

If a person with mucopolysaccharidosis type VII has trouble breathing while sleeping, or sleep apnea, their doctor may want them to be monitored overnight for a sleep study. Surgical removal of the tonsils or adenoids may be recommended if they are blocking the airway. Breathing machines, such as CPAP and BiPAP machines, can be helpful in improving breathing during sleep as well. If breathing is seriously blocked, a hole into the airway from the front of the neck (also called a tracheotomy) may be recommended for a person with mucopolysaccharidosis type VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Are there any surgeries that could be helpful for people with Mucopolysaccharidosis Type VII?

A doctor may recommend certain surgeries to people with MPS VII depending on the severity of the signs of their conditions. Some people with mucopolysaccharidosis type VII have surgeries to lessen the pressure on the spinal cord, to fuse the bones in the neck, to remove the tonsils or adenoids in the throat, to fix problems with the heart, and for other reasons. Each surgery a person with MPS VII has should be discussed with a doctor who is knowledgeable about their condition before they have a surgical procedure.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://rarediseases.org/rare-diseases/sly-syndrome/
I am a carrier of Mucopolysaccharidosis Type VII. How do I find out if my children could be at risk to have Mucopolysaccharidosis Type VII?

If you are a carrier of MPS VII, your future children will each have a 25% (1 in 4) chance to have mucopolysaccharidosis type VII if your partner is also a carrier of the condition. You partner can have testing to determine if they are a carrier of mucopolysaccharidosis type VII and, therefore, if your children together could have this condition.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi
  • http://www.omim.org/entry/253220
Are there certain jobs people with Mucopolysaccharidosis Type VII should avoid?

Many people with MPS VII have medical problems that can prevent them from living into adulthood or being able to work. However, mucopolysaccharidosis type VII is a variable disease and there may be some people who live into adulthood and can have a job depending on their physical and mental capabilities. For people with mucopolysaccharidosis type VII who are mildly affected and may live long enough to work a job, the Americans with Disabilities Act gives assistance to employers and employees so that people with mucopolysaccharidosis type VII are able to be successful in their work.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Are there certain sports or other activities people with Mucopolysaccharidosis Type VII should avoid?

The physical restrictions of people with mucopolysaccharidosis type VII are unique to each person's symptoms and severity of disease. However, as a general recommendation, children with mucopolysaccharidosis type VII are encouraged to avoid contact sports, gymnastics, the use of trampolines, and other high-risk physical activities.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
How much does having a hematopoietic stem cell transplant (HSCT) cost for MPS VII?

The average cost of a hematopoietic stem cell transplant (HSCT) is between $100,000 and $250,000 in the United States, but some HSCTs have been known to cost as little as $85,000. This is the estimated cost if a person did not have insurance, but depending on the health insurance plan that a person with mucopolysaccharidosis type VII has, the cost may be much less.

References
  • http://www.ncbi.nlm.nih.gov/pubmed/26687803
  • http://www.ncbi.nlm.nih.gov/pubmed/26524106
Is there enzyme replacement therapy (ERT) available for people with Mucopolysaccharidosis Type VII?

Currently there is one Food and Drug Administration (FDA) approved treatment for Mucopolysaccharidosis Type VII (MPS VII): MEPSEVII™ (vestronidase alfa). MEPSEVII™ is an enzyme replacement therapy (ERT) made by Ultragenyx Pharmaceutical Inc. The goal of ERT is to replace the enzyme missing in individuals with MPSVII with an artificial or recombinant beta-glucuronidase. ERT helps to breakdown incorrectly stored materials in the cells (the glycosaminoglycans (GAGs) dermatan sulfate, chondroitin sulfate and heparan sulfate). Patients getting ERT usually visit an infusion center every 2 weeks and receive the enzyme by an intravenous (IV) infusion. When began early in the course of the disease, replacing the enzyme helps slow the progression of the disease, reduces complications, and may even prevent long-term complications.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://clinicaltrials.gov/ct2/results?term=sly+syndrome+enzyme+replacement&Search=Search
  • http://ir.ultragenyx.com/releasedetail.cfm?releaseid=887649
  • Fox JE, Volpe L, Bullaro J, Kakkis ED, Sly WS. First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient. Mol Genet Metab. 2015 Feb;114(2):203-8. doi: 10.1016/j.ymgme.2014.10.017. Epub 2014 Nov 7. Accessed online 19APR18: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360956
  • Ultragenyx Pharmaceutical website, accessed 19APR18 http://www.mepsevii.com/about-mepsevii/potential-benefits/
What is gene therapy and how does this relate to Mucopolysaccharidosis Type VII?

Gene therapy is a type of treatment for a small number of genetic conditions where genetic instructions are used to treat or prevent disease. In the case of mucopolysaccharidosis type VII, gene therapy would potentially MPS VII is something that is currently being researched. For more information on gene therapy research, clinicaltrials.gov can help you locate clinical studies.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://rarediseases.org/rare-diseases/sly-syndrome/
Is gene therapy available for people with Mucopolysaccharidosis Type VII?

Gene therapy research in MPS VII has shown promising results. There are plans to begin a clinical trial using gene therapy for people with MPS Type VII to see if this might be an effective treatment.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://clinicaltrials.gov/ct2/results?term=sly+syndrome&Search=Search
Can a bone marrow transplant help with the symptoms of Mucopolysaccharidosis Type VII?

A bone marrow transplant is a type of hematopoietic stem cell transplant, or HSCT. A HSCT replaces the missing β-glucuronidase enzyme in people with Mucopolysaccharidosis Type VII. This can improve some of the symptoms of the mucopolysaccharidosis type VII like a large liver and spleen, joint stiffness, heart problems, some breathing problems, and hearing loss. A bone marrow transplant does not usually improve the problems with the bones, problems with the eyes, or the problems that people withvMPS VII can have with their mental development and the brain. HCST has significant risks to the person undergoing the procedure. The risks and benefits of HSCT should be discussed with your doctor.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Are problems during pregnancy common for people with Mucopolysaccharidosis Type VII?

Fertility, or the ability to become pregnant, is not known to be affected in people with MPS VII. However, many people with mucopolysaccharidosis type VII do not live into adulthood or do not have children because of their medical problems. As of October 2017, there are no case reports in the literature of a woman with MPS VII reproducing.

References
  • http://omim.org/entry/253220
  • https://rarediseases.org/rare-diseases/sly-syndrome/
If two people with Mucopolysaccharidosis Type VII have a child, will their child also have Mucopolysaccharidosis Type VII?

Most people with MPS VII do not live into adulthood or do not have children because of their medical problems. As of October 2017, there are no MPS VII have a child, all of their children will also have MPS VII. This is because the parents do not have genetic instructions for the working β-glucuronidase enzyme for their children to inherit.

References
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
  • https://rarediseases.org/rare-diseases/sly-syndrome/
  • http://omim.org/entry/253220
If more than one person in the same family has Mucopolysaccharidosis Type VII, will they all have similar symptoms?

Even if more than one person in the same family has MPS VII and the same genetic changes that causes the condition, that does not necessarily mean that they will all have the same symptoms or severity of the condition. This is because mucopolysaccharidosis type VII is a variable condition that affects different people differently.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
Is Mucopolysaccharidosis Type VII found in other animals or just in humans?

There are some animals, such as cats and dogs, that can also have a condition like mucopolysaccharidosis type VII that is caused by low levels of β-glucuronidase enzyme.

References
  • http://omim.org/entry/253220
  • http://www.ncbi.nlm.nih.gov/pubmed/26118695
  • http://www.ncbi.nlm.nih.gov/pubmed/11124056
Does the type of genetic changes a person has in the GUSB gene impact the type of symptoms they may have associated with Mucopolysaccharidosis Type VII?

There are some specific genetic changes that are associated with the more severe form of mucopolysaccharidosis type VII, but other genetic changes have been found in, both people with the severe form of MPS VII and people with the mild form of MPS VII. Because of this, it is hard to know what form of the condition or what symptoms of mucopolysaccharidosis type VII a person might have by just looking at their genetic changes. If you have a genetic testing result for the GUSB gene and want to know more information about what those changes mean, talk to a genetic counselor.

References
  • http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048808/
  • http://www.ncbi.nlm.nih.gov/pubmed/19224584
  • http://omim.org/entry/253220
How much &#946-glucuronidase enzyme activity is considered to be normal?

Normal levels of β-glucuronidase in the body is determined by an accepted range at certain laboratories that perform this testing. The number for the normal "cutoff" may be different at different labs because of this and can also be different depending on what type of tissue is used for the testing (white blood cells, cultured skin cells, etc.), but should be listed on the testing result no matter what type of sample was used. For instance, the Mayo Clinic Mayo Medical Laboratories quotes the normal range to be anything more than 2.33 nanomoles per milligram of protein in cultured skin cells. Regardless, β-glucuronidase testing would tell if a person's enzyme levels are below the normal range enough to be concerning for mucopolysaccharidosis type VII.

References
  • http://isj.testcatalog.org/show/BGLR
  • http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81473
How much &#946-glucuronidase enzyme activity do people with Mucopolysaccharidosis Type VII usually have?

People who are diagnosed with mucopolysaccharidosis type VII usually have less than 5-10% of the normal amount of β-glucuronidase enzyme when compared to people who do not have this condition. In one study of β-glucuronidase enzyme activity, people with MPS type VII had between 1% and 3% of the enzyme activity that was measured in people who did not havemucopolysaccharidosis type VII.

References
  • http://www.ncbi.nlm.nih.gov/pmc/articles/PMC333336/
  • http://www.omim.org/entry/253220
Are there other conditions where people may have high levels of dermatan sulfate and heparan sulfate in their urine besides Mucopolysaccharidosis Type VII?

People with Hunter syndrome, or mucopolysaccharidosis II, have increased amounts dermatan sulfate and heparan sulfate present in their urine, but they would not usually have chondroitin sulfates present like people with MPS VII.

References
  • http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm
  • http://www.mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Can measuring &#946-glucuronidase enzyme activity help determine if someone is a carrier of Mucopolysaccharidosis Type VII?

Determining if someone is a carrier of MPS VII by looking at their β-glucuronidase enzyme levels in the blood or in skin cells is possible. However, another form of carrier testing for mucopolysaccharidosis type VII is done by genetic testing that looks for changes in a person's GUSB genes.

References
  • https://rarediseases.org/rare-diseases/sly-syndrome/
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://www.ncbi.nlm.nih.gov/pubmed/6818536
Can occupational therapy help the symptoms of Mucopolysaccharidosis Type VII?

Occupational therapy may not directly improve the symptoms of MPS VII, however, it can help some people with this condition learn developmental skills or slow the loss of developmental skills. Talk with a doctor or occupational therapist to see if occupational therapy could be helpful to improve the day to day life of your family members with mucopolysaccharidosis type VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://rarediseases.org/rare-diseases/sly-syndrome/
Can physical therapy help the symptoms of Mucopolysaccharidosis Type VII?

Physical therapy can help with some of the joint pain and stiffness that people with MPS VII can have. A physical therapist can also help a person with mucopolysaccharidosis type VII be as active as possible without causing joint pain so they can improve their joint function and overall health.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Can speech therapy help the symptoms of Mucopolysaccharidosis Type VII?

Many children with mucopolysaccharidosis type VII have speech delays or other developmental challenges with speaking as part of the problems with the brain that these people can have. Other children with MPS VII may learn to speak on time but lose their language skills over time due to the progression of the disease. However, the speaking capabilities of people with MPS VII are very different from person to person. For these reasons, speech therapy may be helpful for some of the people with this condition early on in their development. Talking with a doctor or speech therapist can give you more information about if speech therapy may be helpful for your family member with mucopolysaccharidosis VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • https://rarediseases.org/rare-diseases/sly-syndrome/
Is there a specific diet that people with Mucopolysaccharidosis Type VII should follow?

There are no specific diets recommended for people with MPS VII. Some people with mucopolysaccharidosis type VII may have periods of diarrhea or constipation that can be controlled with some dietary changes, while others may not need to do this. Dieticians, nutritionists, and other doctors can help determine if specific diet changes may be helpful for people with MPS VII depending on their individual symptoms.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Can people with Mucopolysaccharidosis Type VII have anesthesia during surgery?

People with MPS VII can have anesthesia during surgery, but may need special care of their airway during surgery. Since people with mucopolysaccharidosis type VII can have trouble breathing, extra care should be taken by an anesthesiologist and pulmonologist to find out if anesthesia could cause any problems during the surgery. There are some tests that these doctors can do to find out if the use of anesthesia during a surgery will have extra risks for a person with MPS VII. If possible, use a pediatric anesthesiologist or anesthesiologist who has experience treating people with MPS disease. If that is not possible, let your surgeon, anesthesiologist, and other doctors know that breathing problems can occur in people with this condition so they can be educated about this possibility.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
What can I do if my child with Mucopolysaccharidosis Type VII has behavioral problems or signs of depression?

If your child with MPSVII is exhibiting behavioral problems, signs of depression, or other signs of a mental illness that may or may not be related to having a long term illness, there are a few different resources that may be helpful for them. For behavioral problems, counseling or behavioral therapy may be useful. For depression or other mental illnesses, counseling by a psychologist or being treated by a psychiatrist may be helpful for them as well.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Why do some people with Mucopolysaccharidosis Type VII have very cold hands and feet?

Some people with MPS VII may have problems breathing or problems with their heart that stops their blood from circulating to the hands and feet correctly. If this happens, a person can have cold hands and feet that are not warmed as much as other parts of the body. Some people use gloves and socks to warm up their hands and feet, but other people may need to see a doctor to talk about what is causing this and how to treat it. If a person with mucopolysaccharidosis type VII's hands or feet turn blue one time or on a regular basis, this is something that needs to be talked about with a doctor and could mean there is a more serious problem with the heart or lungs.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Why do some people with Mucopolysaccharidosis Type VII have a hard time with blood draws?

People with the severe form of mucopolysaccharidosis type VII can have tough and thick skin and this can make blood draws or other procedures needing an intravenous line more challenging.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Where can caregivers of people with Mucopolysaccharidosis Type VII get support?

Caregivers of people with any long-term condition can be tiring and challenging and this is no different for parents or other caregivers of people with MPS VII. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at http://caregiveraction.org/.

References
  • http://caregiveraction.org/
Are infections something that is common in people with Mucopolysaccharidosis Type VII?

Recurring ear and sinus infections are common in people with MPS VII. Because of the problems with the airway that some people with this condition can have respiratory infections. For this reason, flu and other vaccines that protect against these types of infections should be considered for people with MPS VII.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
Will my child with Mucopolysaccharidosis Type VII go through puberty at the same time as their peers?

Teenagers with MPS VII are not known to have any health problems that cause differences in stages of puberty.

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf
  • http://omim.org/entry/253220
  • http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii
I have MPS VII and my doctor says I have "dysostosis multiplex;" what does that mean?

Dysostosis multiplex is a medical term for a pattern of bone problems that are common in people with mucopolysaccharidoses, including MPS VII. These bone problems include abnormally shaped back bones (vertebrae) and ribs (spatulate), enlarged skull, too small and too thick leg bones (hypoplastic epiphyses and thickened diaphyses) and bullet-shaped finger and toe bones (metacarpals).

References
  • http://mpssociety.org/wp-content/uploads/2011/07/MPS_VII_2008.pdf

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