Our beautiful little Leni, who is just two years old and so full of love and life, has been diagnosed with an extremely rare and very severe rapidly neurodegenerative genetic condition called Sanfilippo Syndrome Type B (MPSIIIB), also known as Childhood Dementia. Life-saving treatment may be available this year, but we need to urgently raise funds for her to access this. With Leni’s condition every day matters and time is running out to save her life.

Children with this condition have a defect in a single gene that prevents them from breaking down a sugar molecule called heparan sulfate, causing toxic waste to build up in the brain and body.

Sanfilippo Syndrome is unimaginably cruel. Children develop relatively ‘normally’ with no obvious symptoms until they are around two years old, then over a short amount of time they lose all skills once learned, experience severe behavioural challenges, extreme hyperactivity, insomnia that can last for days, seizures, a total loss of cognitive and motor function, and a premature death in their early to mid teens, as well as many other horrific symptoms. Sanfilippo is relentless and leaves nothing untouched.

Leni will lose the ability to walk, talk, play, laugh, eat, and eventually her life to this condition.

Leni loves to run, and some of our wonderful friends are running marathons to raise funds and awareness for Leni to access treatment that will hopefully mean she can keep running. Every donation and share is another step closer to life-saving treatment for Leni:

Like most of the world, we had never heard of Sanfilippo Syndrome until very recently, and it is now part of every waking moment and has ripped our world apart. No parent should have to go through this heartbreak, and no child should have to suffer with this syndrome.

There is currently no treatment and no cure, but there are promising experimental treatments on the very near horizon that have already been proven to be incredibly effective. Everyone is working very hard to make these treatments urgently accessible to those who need it. We will do whatever we can to get Leni and other children access to the treatment that they desperately need, but at the moment it is just out of reach - partly due to lack of funding.

With Leni’s condition weeks and months matter as toxic waste builds up in her tiny body every single day and the damage cannot be reversed once it is done. Time is working against us. The difference between her getting access to this treatment now and in a years time could be the difference between a potentially near-normal life and a significantly shortened life with the most severe mental and physical disabilities you can imagine. It’s now or never for Leni.

It is every parent’s worst nightmare to be told that their child is going to die, and that is the haunting reality we are faced with if Leni cannot get access to treatment and fast. We will do anything we can to save our baby girl, and that starts with raising awareness and funds to get her access to life-saving treatment. This truly is her only hope.

We know that the best chance of us getting Leni and other children access to this treatment is by campaigning and fundraising, but the exact pathway is unclear.

We are engaged with all involved parties and will update you all as soon as we know more.

If we are unsuccessful in accessing these specific treatments then funds will go towards any future treatments that may become available, to providing for her complex medical needs, and to improving her quality of life wherever we can. We will also donate funds to Great Ormond Street Hospital who are providing Leni with truly world-class care, and Cure Sanfilippo Foundation who are the only charity dedicated to Sanfilippo Syndrome and have been a huge support for us and many other children and families.

We will be sharing updates on Leni’s journey on her Instagram @saving_leni, TikTok @saving_leni, and here on her GoFundMe page.

We have been completely overwhelmed by the love and support we have received since Leni’s diagnosis and we know that she is so loved. We know that it is a big ask, but please donate if you are able, and please share Leni’s story and GoFundMe page everywhere you can to help raise the awareness and funds needed to save Leni’s life.