£8,820 Raised for Family Whose Two Children Have MLD

Ally and Jake Shaw always dreamed of having a big, happy family. The pair began their journey with their daughter Nala, now just under 3 years old, and later brought Teddi, now 1 year old, into the mix. Nala and Teddi bring so much joy to Ally and Jake’s everyday lives – but as Nala grew older, her parents noticed something concerning. Their daughter seemed to be regressing developmentally and suddenly had difficulty walking. After a variety of tests, Nala was diagnosed with a rare genetic disorder called metachromatic leukodystrophy (MLD). Further tests showed that Teddi also had MLD.

According to an article in the Northumberland Gazette, the Shilbottle community recently held a fundraiser to help support the family. Unfortunately, there are no medical options for Nala at this point. However, her family hopes that funds raised can go towards any medical equipment, days out, or travel (if trials open up) for Nala to enjoy the remainder of her life. Additional funds raised will be used to support Teddi’s medical care. Since Teddi’s condition was caught early enough, she will be undergoing chemotherapy and gene therapy. In fact, she is the first child in the United Kingdom to be receiving this particular gene therapy. 

Altogether, around 300 community members came out and raised £8,820 to support the Shaws. If you would also like to contribute, you may do so via the family’s GoFundMe page

What is Metachromatic Leukodystrophy (MLD)? 

Metachromatic leukodystrophy (MLD) is a rare genetic disorder. It exists under the larger category of leukodystrophy, progressive diseases affecting the central nervous system (CNS) through abnormal development or destruction of the myelin sheath. Normally, the myelin sheath helps protect neurons. In MLD, ARSA or – in rarer cases – PSAP gene mutations stop the body from effectively breaking down lipids (fats) with sulfatides. These lipids then accumulate in the body, destroying the myelin sheath.

MLD may be characterized as late-infantile (within the first 3 years of life), juvenile (manifesting between ages 3-16), or adult-onset (after age 16). The former is the most common, accounting for 50%+ diagnoses. Juvenile and adult-onset MLD may be characterized by behavioral or psychiatric difficulties, progressive difficulty walking, and increasing difficulty in work and school. Additional symptoms which may appear across the spectrum of MLD include:

  • Difficulty speaking
  • Developmental regression
  • Difficulty walking
  • Vision loss 
  • Changes in mood, behavior, or personality
  • Loss of speech and muscle function
  • Intellectual and motor issues
  • Seizures
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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