Patient Update
Pamela Korb: Pamela’s family in Erfurt, Germany wrote to say how valuable she finds physical activity. Every week they go swimming and they take walks, play table tennis (that is strangely easier for Pam than eating) and recently they've been on cycling trips thanks to a new tricycle. Cycling is wonderful fun for Pam and helps her coordination and physical fitness, but above all riding in the fresh air is healthy.
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| Pamela Korb | Like many chorea-acanthocytosis patients, Pam experiences difficulty with speech and is now looking at how a speech machine can help. (Other NA patients, including Alex Irvine in the UK, find the speech machine invaluable.)
Pam's whole family attended the well-organised meeting of the Hoffungsbaum Association that was brought together by the Glucken family. Hoffungsbaum, which focuses on neurodegeneration with brain iron accumulation (NBIA), was a supporter of the Bethesda symposium in October. Patients with PKAN, the most common disease in the NBIA group, often also have the spiky red blood cells associated with all the NA diseases. Unlike NA, PKAN often affects infants and young children.
Meetings like these are valuable, Pamela's family says. “It is a better feeling not to be alone with your concerns, and perhaps we can help one another.”
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Ana Maria Paloma Argenta with Jesus and Lucia
| Ana Maria Paloma Argenta: Ezequiel writes from Madrid that Ana and the family spent a week at Port Aventura (the Spanish version of Disneyland Paris) south of Barcelona, enjoying the characters in the park. A second week took them to Valencia where they visited the L'Oceanografic and Science Museums, a marvelous experience, especially for the children. They also met up with another ChAc patient, Maria Isabel and her mother.
Ana and Ezequiel travelled to Pamplona in August for a neurostimulator revision as a follow-up to her deep brain stimulation (DBS) operation. Ana's operation involved the placement of two electrodes through the skull into a specific area of the brain. The electrodes are connected to wires that link them with a pacemaker installed under the skin near the armpit. The pacemaker is then adjusted for the maximum benefit. The problems with the cables seem to be solved and the system is operating properly, which means some symptoms are being controlled. Ana is able to eat anything and continues her needlework as well as helping her children with their homework.
Maria Rivera: Sadly we need to report the death on 2 January of this year of NA patient Maria Rivera. In the summer of 2009, Maria's teenaged daughter Vikky Cruz through her school programme asked to participate in a Radio Rookie Broadcast in NYC to highlight her mother's struggle with NA. Her story was broadcast on WNYC radio in October and we heard from listeners as a result of the show.
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| Maria's daughter Vikky Cruz | Vikky first described her mother's condition at the time of the recording and then explained the history of events from her perspective as a young child: when Vikky was 8 her mother first started slurring her speech and subsequently falling and losing weight. She and her brothers were angry that she was not taking them to the park or buying them ice cream. When Vikky was 15 her mother's personality changed so that she wanted to be a teenager, too. The children and she moved in with her grandmother where Maria appeared self centered and moody. It was not until Vikky was 15 that her mother was finally diagnosed and began to learn more about the condition. Vikky also interviewed two relatives of patients in the NYC area and heard good advice as well as difficult stories: Eric suggested she stay strong and positive and Joanne encouraged her to be more helpful.
Vikki's broadcast is a moving account of what it is like to live with NA in the family. If you would like to hear Vikky's broadcast click this link.
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