Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome: It’s Go! Go! Go!

Tuesday 11 October 2011

It’s Go! Go! Go!

This is going to be the quickest blog update ever.

Miya passed her snot test yesterday and we began chemo today. The chemo is still infusing slowly, and there’s about a half hour left to go. Miya spiked a temp (38.2 C) which is normal as her T-Cells produce heat as they break up. This is being treated as per normal protocol with paracetemol (UK version of Tylenol) and steroid.

Miya continues to eat and drink normally. She does, however, have a red bum due to the chemo chemicals being excreted in her urine and faeces. We are treating this with special cleansing agents and a powerful barrier cream.

Miya is examining Simba with a flashlight right now, and earlier, she tried to feed him a biscuit. She is in high spirits, although earlier today when she was given Pethedine (aka Demerol) she was a zombie for a while, and then fell over several times when she tried to walk.

Miya was given an NG tube today, which made me have to go to the other end of the room and look away. It wasn’t cool. She’s fine with it now, and isn’t really picking at it. She’s more interested in what’s going on with her Hickman line.

Off to put Miya to bed now. Will update as and when I can.

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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 11 October 2011

It’s Go! Go! Go!

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Post a Comment

About MPS 1H (Hurler's Syndrome)

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