My name is Tabatha Marshall from Hinesville, Georgia. I am the mother of a 15-year-old XLP child. He is the only living one in my family that has the disease. 4 other little guys predecease him. I would like to take this opportunity to tell our story starting back in 1994.
In February of 1994 I found out that one of my first cousins had XLP and was terminal, and it was urgent that all of us females be tested to see if we were carriers. I am a carrier. So they immediately started DNA testing on Johnathan. That dragged out for 3 long years due to them not being able to find the deletion in the gene. He would frequently get sick and have long trips to the hospital, but at the time no one knew why. In 1997 the doctors found out that there was direct testing over in England for this disease, so we stopped waiting for his gene to clone and sent his blood to London, England. Within a few short months, one of his doctors told us that the gene had broke in half causing only one side to be affected with this disease, and that it was sitting behind the unaffected half. Then we were told not to worry about anything that he indeed was not fully affected and that he may not ever show signs and symptoms. In 2002, after being sick off and on for about 8 years, they diagnosed him with EBV and sent him to a Hematologist/Oncologist. That was our lifesaver, because he immediately started us on IVIG and we had 7 lymph nodes in the abdomen that needed to come out. Since then we continue to go for IVIG therapy every 3 weeks and we have managed to be the oldest living of the 4 that predeceases Johnathan. As his mother and a nurse, I am very aggressive with his care. I am hoping that one day they will find a genetic cure for this disease. I am grateful that we are still fighting this war on XLP. The unfortunate part of this disease is that it took the lives of 4 of my cousins all under the age of 15, and out of the 4 BMT was not successful.
I would also like to add that I am dedicating this story to the following people: my son Johnathan age 15, Phillip Borland- deceased, Larry Howison- deceased in 1995, Phillip Larr- deceased in 1999, and Mark Donovan Smith- deceased in 2003.
At 19 years old, Johnathan continues IVIG therapy and lab work every 3 weeks. He is now the oldest in my family history with XLP. Since the age of 15 he has had a port replacement, bowel obstruction, several more lymph nodes removed, and several infections that were related to the XLP. He does not have any minalecting binding proteins or memory B cells. He recently developed high blood pressure as a result of the IVIG’s and the stress it is causing on his kidneys, he has an ulcer related to the amount of emotional stress that he is under, and he is on pain medications everyday. The fact that you can look at him and not tell that he is even sick helps a lot with the emotional stress, but he is not able to do things that most 19 year olds can do. He graduated hospital home bound school when he was 15 years old and received his high school diploma, and then tried to work outside the home at the age of 17. He developed a fungal infection that spread all over his body and therefore had to leave his job. He has under gone several tests and is now facing even more scans and labs. He is starting to get very tired of all the treatments and such that he is going through, but continues to tough it out while waiting for the US to find a cure. He has also developed arthritis and chronic fatigue syndrome due to all the stress that XLP puts on the body. He is a very tough young man, and is still holding strong.
I am still very grateful to this research site and to David Hartley for everything that is being done today.
I will continue to update periodically with all new information. We are now in Vine Grove, KY instead of Hinesville, GA.
If anyone would like to contact me please feel free to do so by email.