Maisie Marsh - PYRUVATE KINASE DEFICIENCY

By Emma, United Kingdom, February 29, 2016

Hi. My name is Emma, my daughter Maisie has a very rare blood disorder called Pyruvate Kinase Deficienency. Maisie is the 40th person in the whole of the U.K. with the illness. She is the only child in Alder Hey Children's Hospital with the illness. Maisie was blood transfusion dependant from the day she was born and was receiving blood every 4-5 weeks. When Maisie turned 5 we made the decision for her to have her spleen removed to see if this helped.
In July 2013 Maisie underwent a 5 hour operation to have her splenectomy which has been a huge success. Maisie has not received any blood for nearly 3 years now. She will always have PK deficiency but now she's not needing blood.
She suffers from iron overload from all the blood she has received but this is being controlled by iron chelation medication.
Maisie has 2 younger sisters who don't have PK Deficiency. Maisie's was not picked up until she was 14 months old, although she was having blood transfusions from birth.
Maisie is 8 now and very happy, intelligent little girl. She always looks very pale and slightly jaundiced but she will always be like that. At lease she's not having blood transfusions and won't need a bone marrow transplant which was the next step after splenectomy.
Thank you.

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.
X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.