“We are guilty of many errors and many faults but our worst
crime is abandoning the children, neglecting the fountain of life. Many of the
things we need can wait. The child cannot..."
crime is abandoning the children, neglecting the fountain of life. Many of the
things we need can wait. The child cannot..."
-Gabriella
Mistral
Mistral
9q34.3. You've probably never heard of 9q34.3, and unfortunately for Lydia and what appears to be approximately only 50 other children in the entire WORLD you won't ever hear about it again. 9q34.3 is a rare chromosome abnormality in which a part of one of Lydia's 9th chromosome has been deleted.
What exactly does this mean? For Lydia it may mean she will most likely be mild to severely retarded. She has low muscle tone and requires physical therapy several times a week as well as requiring speech therapy. Despite this, Lydia may never walk or talk. She is at high risk for infection and seizures. She has already faced 3 bouts of pneumonia, one which required hospitalization. She has also been hospitalized for a kidney infection, and most recently after becoming ill and having severe bouts of vomiting,which at times left her unconscious for almost a minute. She is now facing the possibility of having a feeding tube placed. The feeding tube will prevent the recurrent lung infections she has incurred from liquids aspirating into her lungs during feedings. Lydia was born with a heart defect, natal teeth and could still face growth retardation, lung problems and a whole other list of problems. This April Lydia will celebrate her first year of life.
Most likely you've heard of Down's Syndrome. For families with Down's there are many organizations for parents to reach out to for support. Fundraising is happening continually and there is a wealth of information out there for families and supporters. For Lydias family, support in the medical and public communities is almost non-existent. For Lydia's family, the 50 other families facing this rare syndrome, and other chromosome disorders like
9q34.3 it can be a lonely journey with very few places to turn to for support or answers. Additionally funding for research into 9q34.3 is almost non-existent, and programs to benefit the families of children with 9q34.3 and other rare chromosome disorders is even less.
This month I am donating my money to Chromosome Deletion Outreach. CDO provides family matching (3 different networking programs), an electronic newsletter (those without e-mail are provided with a mailed version), listserv, library access to a medical advisory board and website family sharing pages. In 2007 they introduced a mathematical algorithm through their new web application -what they believe is to be the first of its kind - to finally accurately track karyotypes, learn more about the genes affected by these rare chromosome rearrangements and hopefully develop effective treatments.
The CDO relies entirely on donations and almost all administration and management are done on a volunteer basis. Unfortunately for the CDO there is so little information out there about rare chromosome disorders and their organization that the majority of donations come from the families of these children. Families who themselves are struggling with thousand of dollars in medical bills.
Lydia's family has found that the CDO and another organization out of Europe, Unique have been a life saver. Putting Lydia's mom in contact with other families, providing up to date information, and making the journey a little less lonely. For more information about 9q34.3, other rare chromosome disorders, the CDO, Unique or how you can help click on any of the links above.
You may also support Chromosome Deletion Outreach's many family programs and services through the purchase of this beautiful Swarovski crystal & pearl bracelet designed by Kelly's Pearls of Hope. Each bracelet is accented with sterling silver and a unique CDO charm.
For more info please click on the bracelet link. Bracelets come in S,M,L and special sizing by request.
