Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome: Here We Go Again...

Sunday, 14 August 2011

Here We Go Again...

On Friday at our regular ERT, the lovely Helen told us that the BMT admission was now scheduled for the 26th of September. "WooHoo!" we thought! THEN we were told that it was our OLD DONOR that was donating. She is now well, been cleared for donation by the Bone Marrow Registry, and is able and willing to donate.

During the last three weeks they have been searching for a donor, and they have only found two 9/10 donors and a Cord Blood donor (who was a 5/6, I think). No 10/10 donor was found. IF something goes "tits up", and the 10/10 donor gets sick AGAIN, there will not be a long delay, and they will slot us in with the cord blood donor. Helen told us that in all her time working as a BMT nurse, this has NEVER happened to her.

That's all (for now), folks!!!!!

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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

Sunday, 14 August 2011

Here We Go Again...

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About MPS 1H (Hurler's Syndrome)

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