Beautiful Rainbows....Our Family's Journey With Hurler's Syndrome: A New BMT Date

Wednesday 17 August 2011

A New BMT Date

I received an email this morning from the BMT team who advised that the BMT has been delayed by two weeks. The proposed dates were rejected by the donor's centre (for whatever reason) so we will be admitted on the 10th of October, chemo to begin on the 11th and the transplant day to be the 17th of October.

I will be spending my 32nd birthday in the hospital and it is a very real possibility that we will be spending Christmas/New Year in the hospital as well. I have asked about Christmas presents and have been told as long as the things we get her are new and in the original packaging she will be allowed gifts. The ward make a great effort for families spending the holidays in the hospital. On the bright side, I won't need to cook Christmas dinner or decorate the house!!

The hospital staff have been excellent, and have provided Chris with whatever documentation he needs for work in order to get the time off work.

I don't mind the two week delay. Miya's so active and awesome right now, I really enjoy spending time at home with her.

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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

Wednesday 17 August 2011

A New BMT Date

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About MPS 1H (Hurler's Syndrome)

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