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