The MAGIC Turner Syndrome Home Page
MY PERSONAL STORY:
MY BIANCA, SHE WILL ALWAYS BE MY LITTLE ANGEL
This is my story about Bianca. The first three months of my pregnancy I started to bleed, twice doctors thought we should do a D & C, but when we went to the hospital they picked up a heart beat. I had three ultrasounds throughout the pregnancy and I was told I was having a 7-pound boy. There were never any signs of complications in the ultrasounds. (Just a note here that 99% of Turner babies spontaneously abort themselves usually in the first trimester of pregnancy)
When my water broke, a week before my due date, there was meconium in the water. Then my labor pains started. We went to the hospital they hooked me up to the monitors and we just waited. When nurses came in to check me, they had told us the baby's heartbeat was weakening and she was in fetal distress they rushed me into surgery and I had a C-section. It was a whirlwind all around me. They said, "IT'S A GIRL", and no signs of any complications. She weighed 5 lbs. 11 oz. And she was 18" long.
At about three weeks old Bianca started projectile vomiting. Her doctor told me I was feeding her to fast and not burping her enough. In about the next three weeks it grew worse, her doctor prescribed medication, but that projectiled out too. Six week mark, she started dry heaving and her soft spot was sunken in she had what doctors would call "old man appearance". We rushed her to the hospital where they did an ultrasound, the technical started the ultrasound he took one look at the monitor and dropped the scope and walked out. When he came back in he had two nurses with him and he said they were admitting Bianca, they took her from my arms and said your doctors on the phone and needs to speak with you.
Bianca's doctor told me she had a total blockage in the small intestines (known as Pyloric Stenosis) and the needed to operate on her as soon as she was hydrated. Bianca was severely dehydrated.
The surgery went well. She was in the hospital for 5 days. They were so nice to me they had let me stay with her the whole time. I lost just about all my pregnancy weight in those 5 days.
Through the next three years she had many episodes of stomach pain (many sleepless nights) and at one time she had diarrhea for 3 months straight. She was "failure to thrive" at every doctor visit. At one year old she weighed 12 lbs. We went through upper and Lower GI's, endoscopies but they never found anything. I started switching doctors until I found one who referred us to Dr. Mario Brakin Endocrinologist at Long Beach Memorial.
Bianca was now three years old he checked her out and said there is an illness called "Turner's Syndrome", but he was pretty sure she did not have it. He put her on pedisure (which she hated) and some vitamins and said to come back in 6 months. Still no change, I had informed him that her preschool teacher measured the kids at the beginning of the year and then at then end, her teacher pulled me aside to tell me Bianca did not grow at all in that time.
We went back to Dr. Brakin and the lab did the Chromosome analysis and it came back 45XO, Turner Syndrome. She also is hypothyroid and her bone age was 2-1/2 years. Bianca was 4-1/2 years old when she was diagnosed. This was a very hard for my husband and I we would just start crying at times during the day, but I know I always felt relieved because we FINALLY KNEW what was wrong.
I was just pregnant with Chanelle at this time, doctors told us we needed an amino test done on Chanelle. We did and it came out fine.
My real battle just started when we try to start her on Growth Hormone Therapy. We were denied three times and then we found out about Genentech Uninsured Program. We applied and sent all of Bianca's medical records and our financial records. The day I received the call I was at work, Genentech said they were shipping out Bianca's first supply of Growth Hormone. I felt like I won the lottery, I was running around the office hugging everyone and crying (which I do a lot). Bianca started Growth Hormone April 11, 1995 she was now 5 years old.
My battle still did not end with our insurance company we still had to go through the grievance process. Along with keeping up on Bianca's medical appointments, Endocrinologist, Cardiologist, ENT's, Geneticists, and her pediatrician. It seemed all so overwhelming.
One of the last steps through the grievance process was the Executive review level. Mind you it is now February of 1997, Growth Hormone WAS FDA APPROVED Dec. 1996. My husband and I went in front of a panel of Medical committee none that were endocrinologist, and stated our case against them. There were three doctors of the medical review panel, not one was an Endocrinologist. It lasted about one hour and I knew in my heart that they were not going to approve her. They just kept finding reasons to deny her.
After we exhausted all the levels we filed a complaint with the State of California. They came in and about 4 months later they called and said I would be getting a letter in the mail from Pacificare saying they were approving her. They had forced Pacificare to approve Bianca for the Hormone and any other enrollee through Pacificare who has Turner's will be approved too. At last it was over, 4 years almost to the date.
In the last couple of years Bianca has had bouts of ear infections, three sets of tubes. Had her tonsils and adnoise out. She has had two incidence of Scarlet Fever, boy that was scary. We also had her tested for the "Y" which came out negative. If you don't know what that is PLEASE write, email or call me, you need to know.
Bianca is doing great now. School is going very well. She is a very well adjusted child, and she is very mature for her age. I have always been honest with her, we talk about what she has and I will always answer any question she asks. I'm very very proud of her. She has taught me a lot about myself. She will always be my little angel!!