Leanne Lorrance-Brown has helped care for Birdie since she arrived at HOLAH; Birdie’s rare disease is almost one of a kind and Leanne hopes to share her story at an upcoming conference.
South Africa (29 January 2024) – Birdie arrived at HOLAH (House of Love and Hope), a safe haven for abandoned and orphaned babies, in 2020 and has been the light of the haven. Birdie was recently diagnosed with a rare disease, so rare she is one of only 3 people in the world who suffer from the variant.
After years of suffering skin ailments, Birdie’s diagnosis has been the answer they have searched high and low for. She has been diagnosed with Penttinen Syndrome, a rare disorder that means she looks prematurely aged due to her skin, which is also prone to lesions that resemble scars and thinning hair. As far as the medical world can determine, only eight people have been diagnosed with Penttinen Syndrome, and further, only three of those (including Birdie) have her specific variant. Over the years, her skin will scar, and she will become less mobile and lose her independence.
“Birdie has very fragile skin, and a slight knock tears her skin. She is very aware of her limitations and is very cautious but that doesn’t stop her from having fun.
Due to her fragile skin, she often has several plasters on, and we have found that the best plaster for her is the op-site plaster. These come at a huge cost as the smallest one is around R15 each. She can sometimes have up to 4 plasters on which need to be changed daily or every other day depending on the severity of the wound.
Her medical costs are going to cost a small fortune..with Birdie being the only one In Africa with Penttinen Syndrome, it’s taking a lot of research and possibly trips to professors in other countries. OT and physio costs, making her home adaptable to her needs.”
“We reached out to a professor in Norway who has studied Penttinen Syndrome. And they have found that a drug used for Leukemia has shown to be effective in slowing down the progression of this syndrome. Penttinen is a sub-type of Progeria, which is premature ageing.
With Penttinen Syndrome, you have fibrous scar-like tissue that forms. This will eventually lead to Birdie not being the independent girl that she is.” – Leanne Lorrance-Brown
While treatment plans are underway, Birdie’s doctors are set to attend the Rare Diseases South Africa 2024 Conference. Leanne Lorrance-Brown, the co-founder of HOLAH, hopes to attend where she will then be able to share Birdie’s story along with her medical history and diagnosis to hopefully help doctors in identifying her rare disease, should another child ever be seeking medical help.
Leanne is now gearing up to attend the Rare Diseases South Africa 2024 Conference where she will be able to share Birdie’s story and meet up with rare disease experts to create more awareness and hopefully make life-changing connections.
Since taking Birdie in at HOLAH, the team have been blown away by the support from her medical team. They are spread across several different hospitals but have worked as a united team to get Birdie a diagnosis and treatment plan. Leanne personally thanked each of them for their continued support of Birdie’s needs. Many of her doctors have been in Birdie’s life longer than Leanne and her team, so they have been instrumental in bringing everyone up to speed on the case.
The hero team is:
- Dr Antoinette Chateau – a Paediatric Dermatologist
- Dr Thirona Naiker – Paediatric Genetics
- Dr Ashmika Gokhul – Paediatrician
“They all work at different hospitals but have been working alongside each other to finally get a diagnosis and have gone above and beyond to research.”
As Leanne gets ready to share Birdie’s story at the conference, she has some advice for parents raising curious children. Raising Birdie, she has seen just how unkind children can be when they do not understand differences.
“Teach your children that everyone looks different, Birdie is now at an age where she knows she looks different. There has been times where she has been having fun, dancing or swimming, and kids have called her an alien or walked up to her and just stood and stared. Birdie loves making friends, teach your kids to say hi and ask her to play.”
If you would like to support Birdie’s treatment or Leanne’s journey to the conference, you can find all the possible donation options via the website here. Just be sure to reference “Birdie – Rare” so they know how to allocate the funding or send proof of payment to kim@likhonithemba.co.za.
by 