Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome: December 2013

Tuesday, 10 December 2013

Almost Christmas

It always seems the time flies by now, with two little ones. Just as a quick update, Miya is FABULOUS!!! She can write her own name, is potty trained (except for the odd accident) and LOVES going to nursery.
Scout is full of mischief and is into EVERYTHING!!! She started crawling a month ago (at 6 1/2 months) and now thinks she should be able to walk.

Miya had her very first trip to see Santa this year and loved it!!

Both girls have had the chicken pox, although Miya got off quite mildly with only a few on her face and some on her backside.

I should also point out that Miya is growing like a weed and I have to buy size 5 clothes for her!!

From our family to yours, We Wish You A Merry Christmas!!!!

About MPS 1H (Hurler's Syndrome)

Mucopolysaccharidosis Type 1H (aka Hurler's Syndrome) is a rare, genetic disease. It is passed down from both parents, who carry the recessive gene. It is progressive and fatal. The following is from this website: "Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen, and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications."

In a person with MPS 1, the body doesn't produce an enzyme called alpha L-iduronidase which is needed to break down long chains of sugar molocules called mucopolysaccharides. Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body. Since the body can't break down and recycle these cells, they remain stored in cells in the body causing progressive damage. Storage affects bone, skeletal structure, connective tissues, and organs (including the heart, lungs, liver, spleen, and brain). Although there is treatment, there is NO CURE. (For more information, please visit www.mpssociety.org or www.mpssociety.co.uk For peer support or information on MPS, please visit the MPS-ML Forum
For more on Miya's Story, click here

Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome

Tuesday, 10 December 2013

Almost Christmas

About MPS 1H (Hurler's Syndrome)

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