OCS+BLF--March-15  donate_button

Zaki’s Gene Therapy journey

31st January 2018

Zaki was one when he was diagnosed with adrenoleukodystrophy (ALD) in September 2015 due to his Uncle Billy being diagnosed. His brother JJ and his cousin Tyler also have ALD.

Billy sadly lost his fight to Adult Onset Cerebral ALD two years ago and cousin Tyler has sadly continued to deteriorate and is dependant on his family for all his care.

Zaki has been having regular MRI scans since his diagnosis and it was a huge shock when in August 2017 (aged three) the doctors saw that there was a small area of demyelination showing on his scan. However, parents Carlie and Sami knew that as his disease was in the very early stages this gave Zaki the best chance of halting ALD in its tracks.

Zaki’s brother JJ had a Bone Marrow Transplant (BMT) two years ago in an attempt to halt the progression he was showing. Devastatingly JJ continued to deteriorate as his disease was too far advanced for the treatment to work: he is now fully dependant on his family for all of his care. It must be noted that BMT is a successful treatment in many cases, but early diagnosis is key to a good outcome, sadly this was not the case for JJ.

The family were very keen to investigate Gene Therapy as a new trial had opened at Great Ormond Street Hospital (GOSH) in London. So, after many consultations and tests for Zaki including an MRI scan with enhancement to see if there was inflammation around the lesion in his brain (inflammation shows active disease) it was decided that he was a suitable candidate for Gene Therapy.

On the 7th December 2017 Zaki was admitted to GOSH to start the process of his Gene Therapy treatment. One of the first things he had to have done was have a Hickman line fitted and a Vas cath. The Hickman line will be used to give Zaki chemotherapy and the drugs he needs, and the Vas cath will be used to collect the stem cells which will be corrected and re introduced to Zaki. Zaki had to have a general anaesthetic to have the lines put in and when he woke up from the aesthetic he asked for chocolate cake!

Zaki had to have four injections of Granulocyte colony stimulating factor (G-CSF), this stimulates the bone marrow to make lots of stem cells which then move into the blood. Zaki then had to have the cells collected from his blood – this took five hours. Unfortunately, they did not manage to collect enough cells the first time, so he had to have a second retrieval carried out the next day, so another 5 hours hooked up to the apheresis machine, which receives blood removed from a patient or donor’s body and separates it into its various components: plasma, platelets, white blood cells and red blood cells. This was successful and in total they collected 26 million cells!! They were then sent to the Lab in Germany on a private plane.

Zaki has been so brave throughout this process and was able to leave the hospital to go home and enjoy Christmas, admitted back into GOSH in January.

Many thanks to Zaki and his family for allowing us to share his story… Next update coming soon!

Facebook

Thank you for your support! ...

We played a Mixed game against LSE today and had a 6-10 loss in a very well fought and fun match! Thank you LSE for being great opponents today! Also, as in the photos, we have all painted our faces the colours of Rare Disease Day which is upcoming on the 28th to show support for ALD Life, the charity who help patients and families of Adrenoleukodystrophy and Adrenomyeloneuropathy. Please help us to provide better awareness and find better treatments. You can help by raising awareness and taking part or donating by texting 'ALDL18 £5' to 70070. Or you can donate on Just Giving here - www.justgiving.com/campaigns/charity/aldlife/rarediseaseday2018 We want anyone and everyone to paint their faces and pass it along! Man of the Match: Aidan Women of the Match: Sarah, Pip, Jess, Amy #LUSL #Ultimate #Ultimatefrisbee #Outdoors #Outdoormixed #Rarediseaseday #warpaint #blueandwhitearmy #Stmarys #simmies #LSE #Beavers #Ostrich #HalfMatchMan #Substitutionsmatter

View on Facebook