Dana and Aidan's Stories

Hello, My name is Gretchen, mother of four beautiful children, two of whom have GT. My husband and I have been determined to be recessive gene carriers. First, I would like to thank Marilyn Buxton, in England, for establishing an Internet support group, and Helen Smith, in GA, for expanding this into an invaluable tool for all of us to learn from and contribute to.

 

 

 

 

 

Our stories are similar to many, at six weeks of age, our daughter had many tiny bruise-like marks. The platelet count test was normal, so we were off to our first hematologist, and had the Von Willenbrand Profile. We were diagnosed with "platelet aggregation," not to be correctly diagnosed with GT until age five, upon meeting the wonderful Dr. Mortimer Poncz, a rare individual, extremely knowledgeable and caring, and we feel blessed to have him in our lives.

Our son was diagnosed at birth through testing of his umbilical cord blood. He has had one platelet transfusion, at age one, when he bumped his lip where it connects to the gum, and it did not want to stop bleeding. He blows bubbles in the bath to keep his nose moisturized. Our one piece of advice is the use of pressure and cold, the sooner the better. That combined with the occasional use of neosynefryn, amicar and thrombin combat most of our situations.

Our daughter had many bruises, but did not experience problems until the onset of periods. Once again we turned to Dr Poncz, and to our incredibly supportive gynecologist, Dr Toon, who has taken the time and effort to educate herself on GT, and has become a dear friend of ours in the process. The first period landed our daughter in the hospital, and she took the lo-ovral pill continuously, not taking the withdrawal week off. She takes nu-iron three times a day, although I am happy to say we are now reduced to two daily. The pill was not controlling the flow, and after several consultations with gynecologists and reproductive endocrinologists, we tried lupron, which temporarily induces menopause, to provide a fresh start. However, we could not get past the last estrogen withdrawal bleed, and ended with a uterine ablation. Two weeks later, unexpected bleeding led to a uterine artery embolism, typically done for fibroids, so we have no statistics on how well this may work, but we are now hopeful that our concerns are behind us, the hemoglobin is finally back to a 12, and we are back to enjoying the teenage years!

I encourage you all to share your stories on the web site, I have put off writing ours, but have gained so much from reading others, however personal, by sharing, we can further help one another and our knowledge of GT.

Email Gretchen