Thought from some friends---- |
Melissa - pediatricianEllenYolandaTriciaSandraKathy a Growth Hormone Journal |
As a relatively new member of the Turner Syndrome Society and newcomer to Maryland, I would like to introduce myself. My name is Melissa. I am a 31-year old pediatrician. I was diagnosed at 12 years of age with Turners Syndrome. After residency, my husband and I moved to Baltimore where I am currently completing fellowship training at Johns Hopkins Hospital to specialize in clinical genetics. My research interest is in the genetic basis of congenital heart defects. I am eager to talk with and share the resources that I have with other women and girls in Maryland who have Turners Syndrome. I look forward to meeting you. You can contact me at mloscal2@mail.jhmi.edu
My name is Ellen. I am 44 years old and was diagnosed with Turner's Syndrome back in 1977 when I was 22. After the diagnosis all the information I was left with was that I might be infertile. I was also a part of a study at N.I.H. back in the 1980's where they confirmed my diagnosis but again the only information I really was given was that I would be infertile and should be on hormone replacement to prevent osteoporosis. I always thought that all I would have to deal with was infertility.
Around 1996 my sister was doing some studying for a PA degree and asked me if I knew that there were some other risks involved with Turner's such as hearing loss and possible heart problems. When I questioned my doctor, she said that any heart problems should have showed up when I was a child. Even when I did have some high blood pressure and an echocardiogram was done they said I was fine. No doctor I talked to about Turner's ever told me that I should be monitored by a cardiologist. Little did I know what I would have to deal with down the road.
On November 3, 1999, I was working as a substitute teacher at my son's school when I passed out. CPR was performed on me and I was flown to the Washington Hospital Center where cardiac surgeon Al Pfister saved my life. The next thing I knew I woke up in the hospital with tubes attached to me. My sister explained to me that I had an aortic dissection and had come very close to dying. I spent 7 1/2 weeks at The Hospital Center and am very fortunate to be alive today to tell my story.
An aortic dissection is a tear in the inner layer of the aortic wall. This allows blood to enter and separate the inner and outer layers of the vessel. An aortic dissection that doesn't stop tearing will ultimately become a fatal rupture. In fact, there is an 80-90% fatality rate associated with acute aortic dissection originating near the heart without surgical intervention by an experienced physician.
Although aortic dissection is a rare complication of Turner's syndrome, it is commonly catastrophic. Because it is not a reportable condition, information on the incidence of dissections is scant. Possible causes of aortic dissection in Turner's women include weakening of the layers of the aortic wall, coarctation of the aorta, bicuspid aortic valve, aortic root dilatation, and high blood pressure. There have been some reported cases of aortic dissection and Turner's syndrome in patients without any of these risk factors.
The knowledge of the natural history of congenital heart defects and risk factors for aortic dissection in Turner's syndrome is limited, therefore, periodic cardiac evaluation of these patients may be necessary.
My main reason for telling my story is to inform women with Turner's syndrome
of the rare but potentially devastating complications that can occur. I hope
that Turner's women today are more informed about the potential cardiac
complications and are being followed by a cardiologist if necessary.
If anyone would like to E-mail me: Matt
l618@ixnetcom.com.
I appreciate the opportunity to share my story...Ellen
Have you noticed that your daughter has difficulty interacting with girls her age? Does she just “not fit in” because she’s different? Well these are the issues I often worry about concerning my 8-year-old daughter. While she has many friends in school and in our community, she often has difficulty-keeping friends. She is definitely more comfortable with girls a year or two younger. Although she is friendly with all kids, she still seems to get “over looked” and “shut out” because she is so small.
When I began to participate in the events held for the Circle of Friends, my daughter immediately “connected” with new friends. No one looks at her oddly because of her size, she is accepted, and has a great time with her new friends. My son also enjoys participating in activities, as do the other siblings who attend.
If you have any concerns, I encourage you to join the Circle of Friends. There’s lots of fun for the whole family.
My daughter Alexandra is on growth hormones 6 times a week. If you are thinking of starting your daughter on GH there is nothing to be afraid of. It is just a little prick count to five and your done. It is that easy. I have no fear of anything that comes our way with TS, we just take everything day by day.
I’m the grandmother in the Circle of Friend’s
support group. I attended the very
first meeting. Several little girls
were playing quietly in the playroom in full view when I walked into Kathy and
Joe’s home. Seven or eight
families attended that first get-together because parents had felt a need to
give the girls an opportunity to make friends who will understand them –
friends for life.
The children met like a bunch of close cousins – with no getting acquainted period required. Their parents met in much the same spirit. At last here were others who knew what it had been like to be told your baby had a problem you had never heard of. Birth stories were shared as well as names of good doctors, growth hormones and more. Those who have come since are just as grateful for this connection with others.
This group is not exclusive – families attend with all their children and grown women with Turner’s enjoy coming to be with the little girls from time to time. If you would like a friend, please join us.
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