My journey began even before I was born. In the later stages of my mummy Rosie’s pregnancy, doctors noticed I had an unusual amount of white matter in my brain, and there were concerns I might be born with Down syndrome. Things moved quickly, and mummy had to have an urgent C-section. I was born on 26th September 2023, weighing just 4lb15oz. After many hospital visits and tests, and scans in the months that followed, I was finally diagnosed with a very rare condition called PDH1 (Pyruvate Dehydrogenase Deficiency).

This condition affects my growth and mobility in a big way. Because PDH1 is so rare—only a few hundred known cases worldwide—many general hospitals and GPs aren’t familiar with it.

First Symptoms (From Birth to Diagnosis)

• Fetal, Growth: Concerns may have begun prenatally with signs of restricted growth or abnormalities noted during ultrasounds.

• Lactic Acid: Elevated lactic acid levels observed postnatally, indicating potential metabolic issues.

• Seizures: Seizure activity noted early on, often a key sign of neurological involvement.

• Movement Disturbances: Delayed or abnormal motor development, including low muscle tone or involuntary movements.

• Hearing Loss: Initial hearing screenings may have shown impairment.

Treatment Approach

• Congenital Lactic Acidosis Management: Includes metabolic regulation, possible use of supplements (e.g., thiamine), and frequent monitoring.

• Ketogenic Diet: High-fat, low-carb diet used to manage symptoms and reduce lactic acid levels by altering the body's energy source.

I’m lucky to have two amazing older siblings: Florrie (6) and Billy (4). Florrie has taken on the role of a little mummy, helping me with everything from balancing to feeding. I went into GOSH to have a PEG (feeding tube) fitted, and right now I’m on a strict Keto diet to help manage my condition.

My mummy Rosie and daddy Billy are doing everything they can to help me, including funding private physiotherapy sessions, which cost £100 each. While the NHS does provide support, it's limited and infrequent, so my parents are covering the cost of weekly sessions themselves. My nanny and grandad are also pitching in—they’re even doing a sponsored walk to help raise funds!

In the coming years, I’ll need specialist equipment to help me standing frames, aids to help with my bathing, wheelchairs and walkers support my little body, special education plans tailored to my developmental need and occupational therapy to improve daily my function and sensory integration.

That’s why we are aiming to raise £30,000—to give me the best possible chance at a more comfortable and independent life.

Every share, donation, and kind word make a huge difference. Thank you for being part of my journey.

With love,

Dusty and family

7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover their core operating costs.

If we raise insufficient funds, or surplus funds, the funds will be used, if appropriate, to support our child’s needs in accordance with Tree of Hope’s charitable objectives. If, in those circumstances, we are unable to use all or part of the funds for the benefit of our child, any funds that cannot be used will be transferred to support the general charitable purposes of Tree of Hope.