Thank you for visiting our Morquio Syndrome fundraising and awareness site. As parents of a child diagnosed with Morquio Syndrome, we have made it our personal goal to raise awareness about Morquio Syndrome and raise funds to make treatment and/or a cure a reality.                                                                Sincerely, Stephanie and Austin Bozarth

Annabelle Bozarth, 2 1/2 years old. She was in a halo following a spinal decompression and fusion surgery.  The surgery was neccessity because her spinal cord was impinged by her vertebra This condition is common amongst people with Morquio Syndrome.  Usually the surgery occures closer to age 8 however due to our close medical care and the progression of her morquio syndrome the surgery was necessary to prevent potential spinal cord damage or death.  The halo gives the vertebra time to heal which usually takes 3 months.  Annabelle has recovered from the surgery and is doing great.

Annabelle, 4 years old, in recovery from right and left hip reconstruction surgery and bilateral knee plates.  Both her hips had changed over time and were not properly supporting her bones so that she could walk without pain.  Her knees also had begun to severly become knock kneed (genu valgum) so plates were put in the inner side of her knees to slow that growth and let the outside of her knees grow.  Over the next couple of years, her knees will  straighten and all the plates will be removed.  These bone changes are very common in severly affected Morquio patients.  The bones are healthy and normal at birth and then change and become damaged because of the lack of enzyme in her body.  Annabelle was in this full body spica cast for 6 weeks.  It was very itchy and a very difficult recovery.  However, she came through and has been in land and water physical therapy since September 2010.  She is walking again (without pain)  She is jumping and just on the verge of running.  At 4 years old she has never been able to jump nor run.  Something many of us take for granted.  She is so proud of all that she can do.

Also in the Fall 2010, Annabelle was fitted for hearing aids and foot orthotics.  Along with bone changes, Morquio patients tend to have mild to moderate hearing loss.  Annabelle has adjusted to both the hearing aids and orthotics in her shoes.  The orthotics help support her feet.

January 2011, Annabelle had her third pair of ear tubes placed.  Ear tube proceedure and recovery are quick.  However, not any less traumatic for a 4 year old. 

We give many, many deep and sincere Thank yous to Annabelle's amazing orthopedic doctor, Dr Mackenzie, at Alfred I Dupont Childrens Hospital in Wilmington, DE.  Dr Mackenzie and his team are the foremost leaders in orthopedic care of spinal dysplasias (in the world!).  We are fortunate that we found him early in the process of looking for the best of the best in medical care.  Not only is he amazing but so is his nurse, Colleen, who has been there for us through some very scary times. 

Following definition is from National Organization of Rare Diseases www.rarediseases.org

"Morquio Syndrome (mucopolysacchridosis type IV; MPS IV) is a mucopolysacchride storage disease that exist in two forms (Morquio A and B) and occurs because of a deficiency of the enzymes n-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to a build of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, people with Morquio Syndrome have normal intelligence. The clinical features of MPS IV-B are usually fewer and milder than associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees), flat feet, abnormal sideways and front to back or side to side curvature of the spine, abnormal development of the growing ends of the long bones, and/or a prominent breast bone.  Hearing loss, weakness of legs, and/or additional abnormalities may occur.

The mucopolysacchridoses (MPS) are a group of inherited lysosomal storage  disorders. Lysosomes function as primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of a particular lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body".

If you are interested in learning more or joining our efforts to raise funds, awareness, or looking for support, please feel free to contact me directly at stephbozarth@yahoo.com

In brief, you should know the following about us: our efforts to raise awareness and funds began soon after our daughter was diagnosed with Morquio Syndrome at 6 months old. We currently direct all our monetary fundraising to The National MPS Society (www.mpssociety.org).  The National MPS Society has been a great support to our family and to all MPS families.  As a new member of the Board of Directors, I have taken on a big role to give back all that has been given to us.