MPS AWARENESS DAY

We are wearing Purple to raise awareness for MPS and all the different MPS diseases!

The boys have MPS II also known as (Hunter syndrome)

MPS II is one of the mucopolysaccharide diseases and is also known as Hunter syndrome. It takes its name from Charles Hunter, the professor of medicine in Manitoba, Canada, who first described two brothers with the disease in 1917. MPS II has a wide range of symptoms that vary in severity.There is no cure for MPS diseases, but there are ways of managing and treating the problems they cause, including enzyme replacement therapies.What causes the disease?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 moleculesThere 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. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.How common is Hunter Syndrome?This is a rare condition affecting 1 in 100,000 to 1 in 150,000 males. There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.How is the disease inherited?MPS II occurs in boys, and girls may be carriers of the gene for MPS II. Although rare, MPS II has been diagnosed in girls.All families of children with MPS II should seek further information from their doctor or genetic counselor before planning to have more children.If the mother is a carrier, there is a 50% risk that any boy born will have the disease.The sisters and maternal aunts of a person with MPS II may be carriers of the disease and would also have a 50% chance of passing the syndrome to a son. There are tests available for carriers, so it is important for all female relatives on the mother’s side to seek advice from their doctor.Is there a Cure for MPS II?There is no cure but treatments such as enzyme replacement therapies can help make the disease more manageable. On July 24, 2006, the FDA granted marketing approval for ELAPRASE (idursulfase), the first FDA approved enzyme replacement therapy for the treatment for MPS II, also known as Hunter syndrome. For more information on the treatment, visit http://www.elaprase.com/.

Funds for Medical Bills

We are trying to raise some funds for the many medical bills that have accumulated over the last year and a half that pertain to the boys medical treatment and testing that has needed to be done.
http://www.gofundme.com/2vhdns

Every little bit helps. Thanks so much

May 15th MPS Awareness Day

Please wear purple this Wednesday to help raise awareness for Hunter, Kingston and Nash. All you need to do is tell one person about this rare disease. Please feel free to post a picture on their Facebook page. www.facebook.com/hopefortheclubbsboys

2/3 boys diagnosed between age 2-4 will be SEVERE

MPS 2 has always been labeled mild or severe, & you don't know if your child will be severe until they get there since it is a progressive disease. The latest study is showing that if your child is diagnosed between 2 and 4 that 2/3 boys will be severe!  This is really hitting home with me since they were diagnosed at 1 and 2. My pediatrician at the time picked it out in Kingston at age one.
I want to think the best and hope this disease doesn't attack their brains. 
At least there is Elaprase that helps their bodies. Praying/fingers crossed that the trial drug that goes right into their spinal cord that ENTERS their brain is put on the market soon. Can't bear to see my babies re progress.

This was Hunter as a two year old. You can't leave any of these boys alone even got a minute!

http://instagr.am/p/heAGy/
You just have to love him! 

Trouble

http://instagr.am/p/VodjLQFD8X/
He is the number 1 trouble maker you will know. Believe you me!  :)

Nash

http://instagr.am/p/VoojrJFD1p/
He's getting so big! 

Sweet baby Nash and his mamma!

http://instagr.am/p/VootWZlD12/
2 months old & 13lbs

First treatment=success

Nash's first treatment went very well. He started off a little slower than his brothers since they had to give him benedryl through iv first and then we had to wait half an hour before he could get his elaprase through iv. Other than that he did good. He slept the whole time other than waking up for feedings.
Hunter and Kingston did pretty well other than when they would get bored and thought they had enough of the tv. We some how managed to keep them in their beds, well Jeremy had to lay in bed with Kingston and keep him occupied while I sat beside hunters bed and the crib. Talk about in the way in such a small area. :)
Overall today was a success. No one had reactions and nash got his stitches out afterwards. Hopefully now we can get into a routine of things! 

Waiting for baby brother to get done.

Nash's Birth

December 11th 2012 Nash entered this world at 7lbs 13ozs 20 1/2 inches long. He was born at 37wks gestation. He swallowed fluid at birth and was TTP. He was transfered from Lady of Lourdes hospital to Wilson Memorial hospital the next morning after his birth. He came out of his tacipnic stage around 5 days old. He was off oxygen for two days about to come home and his o2 levels dropped that night after he was circumcised and had to go back on oxygen. He had a hard time coming back off the oxygen. He stayed in the NICU until he was 27 days old. 

The next week I took him with the other boys to their first doctor's appointment with their new geneticist at Albany Medical Dr. Adams. The week after that January 24th Nash had a port placed by Dr. Siskin at Albany Medical while Hunter and Kingston received their first infusions at Albany since their transfer from Upstate University in Syracuse.

Today January 31st Nash is going to be receiving his first enzyme replacement therapy (ERT) at 7 weeks old.

Wish us luck for no reactions and that we are able to control all three kids and that the day goes smoothly.