The Phone Call That Changed ALL of OUR LIVES!!

On Monday January 16th, 2012 we received the news any parent would fear. That their child was sick, but for us it wasn't just one child it was BOTH of our boys. Hunter and Kingston both have a rare life threatening disease called Mucopolysaccharidosis Type 2. Also known as MPS II (or Hunter syndrome), is a serious genetic disorder that primarily affects males (X-linked recessive). It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAG. Hunter syndrome is one of several related lysosomal storage diseases.
In MPS II, GAG builds up in cells throughout the body due to a deficiency or absence... of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of MPS II become more visible. Physical manifestations for some people with MPS II include distinct facial features and large head. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. Not all people with MPS II are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, MPS II is always severe, progressive, and life-limiting. As of yet, there is no cure for this disease.
Of course after I got off the phone, I went and did a lot of research. I wanted to know exactly how this was going to affect my boys and what this disease actually meant. MPS 2 is a very rare disease that it has been estimated that 1 in 100,00 - 170,000 male births are affected by MPS 2.
What are the clinical problems in MPS 2?
Growth in height is usually significantly less than normal, but varies according to the severity of the disease. Babies with severe MPS 2 may be quite large at birth and may grow faster than normal during the first two years of life. Their growth then usually slows down by the end of their second year. Their final height is likely to be between 4 feet and 4 feet 7 inches in individuals with severe MPS 2. Individuals with attenuated MPS 2 usually grow to a relatively normal height. Most individuals with attenuated MPS 2 can live into their teens or early adult hood before they are diagnosed with this disease. Severe and mild conditions are usually diagnosed between the ages of 2 and 4.
Children with severe MPS 2 experience progressive storage of GAG in the brain, which is primarily responsible for the slowing of development by 2 to 4 years of age. Followed then by a progressive regression in skills until death. Children with this disease will continue to understand and find enjoyment in life, even if they lose the ability to speak. Severe MPS 2 individuals commonly have other medical problems that can hamper their learning and performance, including chronic ear infections, poor peripheral vision, poor hearing, joint stiffness, communicating hydrocephalus and sleep apnea. Adequate treatment of these medical problems can improve their function.
Hunter and Kingston have had many ear infections since birth. Hunter has had 10 to 12 ear infections and Kingston has had 6. They constantly have runny noses, which is from a build up of GAG's in their brain and with them being so small they don't have a lot of room in their head's and causes their noses to run. They should out grow this as they get bigger.
Individuals with attenuated MPS 2 have normal or near normal intelligence. They may have the same physical features as those seen in individuals with severe MPS 2.
The Physical Appearance with individuals with MPS 2 tend to look alike. When several of them are together, they can look like carbon copies of each other due to the coarsening of their facial features, short noses, flat faces and large heads. Their faces are chubby with rosy cheeks and their heads are large with prominent foreheads. The neck is short and the nose is broad with a flattened bridge. The tongue is enlarged and the lips may be thickened. The hair tends to be thick; the eyebrows bushy and there may be more hair than usual on the body. They have protruding bellies and stand and walk with bent-over stance due to joint contractures at the hips, shoulders, elbows and knees.
Nose, throat, chest and ear problems usually occur in more severely affected individuals. Individuals with attenuated MPS 2 are likely to have fewer and less severe symptoms, except for airway involvement. Conditions usually consist of a runny nose, enlarged tonsils and adenoids that can partly block the airway. The shape of their chest's are frequently abnormal and the junction between the ribs and the breastbone in not as flexible as it should be. Also the muscle at the base of the chest(diaphragm) is pushed upward by the enlarged liver and spleen,  further reducing the space for the lungs. When the lungs are not fully cleared, there is an increased risk of infection. They also may have frequent coughs, colds and throat infections. Individuals with MPS 2 who have narrowing of the large airways and increased secretions are at risk for asthma like episodes. Many affected individuals breathe very noisily even when there is no infection. At night time they may be restless and snore. Sometimes the individual may stop breathing for short periods while asleep (sleep apnea).
Heart Disease is very common in ALL individuals with MPS 2, severe to attenuated. Heart disease may not develop or cause and real problems until later in the individuals life.
In most individuals with MPS 2, both the liver and spleen become enlarged by storage of the GAG. The enlarged liver does not usually cause liver problems or lead to liver failure, but it can interfere with eating and breathing and the proper fitting of clothes.
The Abdomen bulges out due to posture, weakness of the muscles, and the enlarged liver and spleen. Frequently part of the abdominal contents will push out behind a weak spot in the wall of the abdomen (hernia).
They also tend to have significant problems with bone formation and growth. This leads to bone problems as well as neurological problems if nerves are compressed by the bone.
Joint Stiffness is common in MPS 2 and the maximum range of movement of all joints may become limited and also tend to have thickened and tough skin.
MPS 2 individuals may also have Neurological problems such as brain, senses and nerves. In the more severe cases of hunter's syndrome there is a decline in developmental funtion. They believe that it may be related to storage in the neurons of the brain. Other aspects that can affect brain function include inadequate oxygen levels, sleep deprivation due to sleep apnea, increased fluid pressure in and around the brain, and effects on the eyes and ears that the affect the ability of the individual to see and hear normally.
Occasionally there will be problems with the eyes due to changes to the retina and glaucoma.
Also some degree of deafnes is common in MPS 2. It may be conductive or nerve deafness or both and may be made worse by frequent ear infections.


I hope that summary of all the problems that can affect an individual with MPS 2 has helped. I know its a lot to take in, it sure has been for our family!!