Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome: I'll Take A Large Double Double With Milk & A Snack Pack Of Timbits

Monday, 5 September 2011

I'll Take A Large Double Double With Milk & A Snack Pack Of Timbits

Nothing much to report from the Hulse household. I had my lump checked out at the Breast Clinic in Bath and was told that the breast tissue felt normal (whew, big sigh of relief). An ultrasound is going to be performed at a later date, just for the sake of completion, but I'm confident everything will be fine.

Miya and I have had HORRIBLE colds. Miya is not a cuddly child, so I knew she was sick when she wanted to cuddle between us in bed last Thursday and Friday night until she fell asleep.

This Friday at our regular ERT, we are meeting with Helen, the BMT nurse, to go over Miya's chemotherapy protocols. We start Itraconozole AGAIN this Saturday. (Itraconozole is an anti-fungal medicine that is given daily one calendar month prior to transplant to kill any fungal infections that Miya might have.) She'll get 5.5ml per day and it tastes like shit.

Miya took her first unassisted steps on Kingfisher Ward last Friday. She hasn't done it since; she just wobbles around like a drunk when I try to get her to walk unsupported.

We also have some potential good news on the accommodation front. It is possible that Chris may be able to stay at Wellington Barracks in London for the duration of the BMT. It would cost us very little (if anything) and it is only a 15 minute walk from the hospital, close to Buckingham Palace. I'm hoping to find out more this week.

As for me, I am missing Tim Horton's, Wal Mart, repeats of The Red Green Show, and the old music from Hockey Night In Canada. I also miss old reruns of Degrassi Junior High and Trailer Park Boys. If anyone should have a box of Canadian cultural classics, mixed with a friendly smile and some of those squee-gee things from gas stations (non-existant in this country...imagine wanting to clean your windshield at a gas station!!) please send them my way. I'd also like a box of Ganong Cherry Chocolates, some Hershey Kisses, and a snack pack of Timbits. And a Large Double Double with milk. Oooo! And how about some Baxter's Chocolate Milk, eh?? Please?? Am I ever going to go home again??

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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

Monday, 5 September 2011

I'll Take A Large Double Double With Milk & A Snack Pack Of Timbits

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About MPS 1H (Hurler's Syndrome)

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