Heather's Hope is an organization that collects donations to help the children with the disorder mucopolysaccharidosis.
We have helped provide not only money for their medical expense, but also hope and support needed to help these families take
care of their loved ones. We are working on raising over ten million dallors to support our case. 80% of the money
donated to this organozation goes to some of the best researchers in the world in order to find more therapy options and treatments
at hospitals including the Children's Memorial Hospital in Chicago, Illinois. Only 1% goes to administrative expenses,
and the remaining money will help families who can't afford to take care of their child.
Heather's Hope has been supporting those affected by mucopolysaccharidosis for years, but it started with Heather Murphy.
Her family learned that she had mucopolysaccharidosis type I at age three. She was able to get therapy, but her family
was determined to help others with similar problems. She and her family are responsible for this wonderful charity and
have helped it grow over the years. Please donate what money you can to give these children the care they need.
Before donating, the Murphy family and countless others ask that you read down the page in order to fully understand
mucopolysaccharidosis and all of its affects on those who have the disorder.
WHAT IS MUCOPOLYSACCHARIDOSIS AND WHAT ARE THE SYMPTOMS?
Mucopolysaccharidosis (abbreviated: MPS) is an inherited disorder that affects carbohydrates deposited in body tissues
because the body doesn't have one of the 11 enzymes needed to metabolize, or break down, the carbohydrates. The enzyme
should be in the cell's lysosomes. However, because these enzymes are missing, children with this disorder will experience
external, internal, and psychological problems such as progressive cellular damage affecting appearence, physical disabilities,
organ and stystem functioning, and mental development. These are the basic types of symptoms that will occer in the
early growing stages of the child's life. However, there are many different types of this disorder, some more serious
than others.
Heather had MPS type I. She had a missing enzyme called alpha-L-iduronidase. This enzyme was needed to break
down the mucopolysaccharides/glycosaminoglycans (GAGs) which are located in the nervous syatem and other syatems in the body.
The GAGs are chains of sugar carbohydrates, but if the enzyme isn't able to break the buildup of the sugar, health problems
begin to occur. The storage buildup occers in nearly every cell of the body and is not curable.
HOW IS IT PASSED ON GENETICALLY?
No matter what type of MPS that is inherited, all will be an X-linked recessive trait, not autosomal as some might think.
X-linked means that children, boys or girls, can have any type of MPS if they inherit the recessive gene for it. Males
only have one X chromosome, therefore only one of the parents need to pass the trait on. However, females have two X
chromosomes. In order for them to have this disorder, they will have to recieve the recessive trait from both of the
parents. The females will normally be the carriers of this trait while the males show it.
WHOM DOES THIS AFFECT?
This disease will affect anyone that has the recessive trait. Both male and female can be have this disorder, but
it's more likely that the females will carry the trait and males will actually have the disorder. There are many types
of this disease with various symptoms. The common problems are tissue damage, limit in joint movement, mental retardation,
and growth and development is strongly affected (dwarfism). Most types are not life threatening, but it can cause a
shortened-life span. Here are a few:
- MPS type I (Hurler Syndrome) - early psychomotor retardation, mental retardation, growth retardation, limited joint ability,
coarse facial features, ear infections, corneal clouding
- MPS type I (Scheie phenotype) - Mild skeletal changes, carpal tunnel and cardiac valve disease, normal height and mentation
- MPS type II (Hunter) - Same as Hurler, but doesn't incluse corneal clouding
- MPS type III - Neurological features, mental retardation, psychomoter regression, hyperactive behavior, skeletal changes,
thick hair
- MPS type IV and V - can have hydrocephalus from meningeal thickening, cord compression from atlanto-axial dislocation,
and carpal tunnel sundrome
- MPS type VII - very rare, like Hurler, but spectrum from hydrops fetalis to almost unaffected
CURES AND TREATMENTS FOR MUCOPOLYSACCHARIDOSIS ARE...
Actually there are no cures to stop this disoder because it is hereditsry and all cells would have to be changed
in oder to counter the disorder. There is gene theropy and carrier detection that can help prevent someone from recieving
this disoder. However, there are many treatments that can help those who already have it. There are transplants
that can be done to help the children with mucopolysaccharidosis I. If it is discovered before there is decline in the
development of the child, a bone marrow transplant can be performed. So far the results have been a very effective transplant,
but few can find a blood type match to qualify for the high-risk therapy.
A person can have an enzyme replacement therapy (ERT). It was first performed in 1991 which means it is still
a relatively new treatment used to help MPS disorders. It was originally used to help only MPS type I. ERT is
the procedure of infusion of man-made enzymes that are specific to the one missing or deficient. Its purpose is to directly
stop the continuation of the disorder and treat the underlying enzyme. Of course, the ERT does not relieve the affected
of all the problems they are faced with because it doesn't cross the blood brain barrier to get into the central nervous system.
However, it does help with mobility and organ functions, The Children's Memorial Hospital has dome extensive research
on this procedure and has learned that it will help in MPS type I, II, and VI.
The Children's Memorial Hospital has also done research on stem cell transplantation. There is very little
information on this treatment, but at the Children's Memorial Hospital, there are researcheres and staff units that are there
to help patients with medical, emotional, and social needs.
TESTS THAT CAN BE DONE TO DETECT DIFFERENT TYPES OF MPS ARE...
Heather's disorder was detected too late to do much to stop it, however there is now a way for doctor's
to diagnosis whether the patient has MSP I. There are two methods. One of the first steps is taking a urine test.
By doing this, doctor's can see if there are high levels of GAG. There is a great range difference between those with
and those without the disorder. The confirmation of someone having MPS I is an enzyme test using blood or skin samples.
In the same way as the urine test, the doctor will check the enzyme activity of the white blood cells. Lesser amounts
of enzyme activity means there is a better chnce of the child having the disorder.
The only way to detect a carrier is to have a family screening or pedigree chart made. By doing
this, there is a chance of uncovering affected siblings and help with early diagnosis.
