Our gorgeous 12 month old son Paxton was diagnosed with a rare disease called MPS II also known as Hunters Syndrome when he was 9 months old. We had never heard of MPS until now as it is so rare. Even though Paxton has only just started his MPS Journey we have met some amazing and inspiring children living with this disease and their parents are just incredible. It brings so much hope to us for Paxton's future. We are so glad to be part of the beautiful MPS family. I have created this page to spread awareness to people that rare diseases can happen to anybody. I've always heard of things happening but never in a million years thought it would happen to us. Anybody who has ever met Paxton will know how much of an easy going and happy boy he is who brings a smile to anyone's face :)
Paxton is lucky as there is treatment available for the type of MPS he has. Other children aren't so lucky and there is no treatment available yet. Although there is treatment there is no cure for MPS which is a progressive disease which gets worse over time. In May 2014 Paxton started ERT (enzyme replacement therapy) to help treat his disease. ERT replaces the enzyme that Paxton is missing through an intravenous infusion that he has weekly. Enzyme replacement therapy does not affect the underlying genetic defect, but increases the concentration of enzyme in which the patient is deficient. Every Wednesday we travel to Weatmead Children's Hospital which is 2 hours away for these infusions. Paxton is such a brave boy and so well behaved while he is getting his infusions. We leave home around 630am and return home at 530pm which is such a long day for a baby especially sitting in a hospital all day. But he does it with a smile on his face :)
Although ERT helps with his body unfortunaley it doesn't help with the brain. And unfortunately Paxton has the most severe type of Hunter syndrome which will end up affecting his brain. The Bone marrow transplant helps the body produce some of the enzyme he is missing so it can travel across the blood brain barrier. Although this is not a cure either. In August 2014 Paxton received his first Bone Marrow transplant. His brother Kaiden wasn't a match so we ended up finding a donor cord blood who was a perfect 8/8 match. During the "countdown" period of the transplant Paxton had to have high dose chemotherapy to kill his own bone marrow and a drug called ATG to kill off his T cells. During this time Paxton developed a severe reaction to the ATG drug causing serum sickness. They ended up aborting his donor cord transplant and gave his own bone marrow back (which they harvested from Paxton before transplant and froze) to save him. We finally got discharged late September 2014 where we stayed at Ronald McDonald House Westmead for a couple of weeks before returning home to then come back weekly for checkups and ERT. We had to wait a minimum of 3 months between the transplant and the next one because of all the chemotherapy he had and the devastating affects it had on his body. We spent our time at home counting the days until we went back to try again. We finally went back late November 2014 to do it all again. This time instead of the ATG drug Paxton had another drug called Campath to kill the T cells and also the high strength chemotherapy. Things went relatively well this time until Paxton got RSV the week of Christmas where he became so sick and was on high flow oxygen borderline ICU for about a week. He was stuck in a tent having Ribavirin for 4 hours a day three times a day where nobody could enter the room until it had finished to help get rid of the RSV. This continued for 2 weeks. It was a slow progress getting him better to even think about home. When we finally went home February 2015 we had to come back 3 times a week for check ups, then gradually decreasing. He went home with so many medications and an NG tube as he wouldn't eat because of the damage the chemotherapy had done to his mouth and tummy. The doctors are amazed at how well he is doing at home. It is now April 2015 and he has been eating normally for about 2 weeks with no NG tube and we have cut back so many of his medications. He is our little miracle :)
What is MPS? Mucopolysaccharidosis TYPE II (MPS II) is a serious genetic disorder that primarily affects males. It is one of several related lysosomal storage diseases. MPS interferes with the body’s ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah-rides). MPS II is one of the mucopolysaccharide diseases and is also known as Hunter Syndrome. It name derives from Charles Hunter, a professor of medicine in Manitoba, Canada, who first described two brothers with the disease in the early 1900’s. Mucopolysaccharidosis type II (MPS II) is an inherited condition that severely affects many different parts of the body. It is considered a lysosomal storage disorder because boys with MPS II/ Hunters have lysosomes that cannot break down certain types of complex sugars. Structures called lysosomes are the recycling centers within our cells. Lysosomes contain enzymes that help our cells breakdown and reuse certain materials from the foods we eat. Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body.
“saccharide” is a general term for a sugar molecule (think of saccharin)
“poly” means many
“muco” refers to the thick jelly-like consistency of the molecules
There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with MPS II are missing an enzyme called iduronate sulfatase, which is essential in cutting up the mucopolysaccharides called dermatan and heparan sulphate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. One of these important recycling enzymes is called iduronate 2-sulfatase (I2S). Hunter Patients are missing or making non-working copies of I2S enzymes. The failure of the body’s ability to break down these large sugar molecules called glycosaminoglycans (GAGs) causes undigested sugar molecules (GAGs) and other harmful substances to build up in cells throughout the body, resulting in the eventual damage or destruction to almost every system of the body. Helpful Links
http://www.abmdr.org.au/abmdr2/page/how-join
http://m.donateblood.com.au
http://www.mpssociety.org.au
http://en.m.wikipedia.org/wiki/Enzyme_replacement_therapy
http://www.chw.edu.au
http://en.m.wikipedia.org/wiki/Hunter_syndrome
http://hunterpatients.com
