Simpson Golabi Behmel And My Family

My name is Jessica.  I am 22 years old.  I have two children, both of which I had very young.  I have a son named Collin who is 7 and a little girl named Layla who is 5. While I was growing up my mother was very sick.  She had breast cancer with a double mastectomy when she was 25 and that same year had melanoma on her head.  She ended up having ovarian cancer as well as a clotting disorder, Factor 7.  After I had my daughter, I bled for a very short time and my period never returned.  I had her when I was 17, I have not had a menstural cycle since.  I'm actually post-menopause and am on a hormone replacement pill. My daughter was born with a mild hearing loss and a whole in her heart such as all babies do. The whole in her heart was supposed to close up after 2 weeks as everyone elses' does, but it did not.  This is called Atrial Septle Defect.   I also lost a lot of blood and required a blood transfusion during delivery.  We continued on seeing her cardiologist yearly and a ENT and hearing specialists quarterly.  Her hearing got worse and when she was learning to talk it was muffled, kind of like she's hearing from inside a fish tank.  The ENT said her pallet was very high and probably weak from not being able to hear correctly. We then found out her vision is a very bad 90/20 and she has to wear very thick glases.  We finaly went and saw a genects specialist who did blood work on her.  They called me and asked me to go for blood work the same day.  I did.  It came back we have a deletion in our 23 pair of chromosomes.  Since girls have 2 X chromosomes they can live with missing part of one of them, but a boy cannot afford to lose part of an X because he only has one.  This means my baby boy is a miracle and didn't get the deletion gene. Layla goes to ultrasounds and urine tests every 3 months.  They say one of her kidneys is much bigger than the other.  After her second ultra sound test they called me and said she has cysts and calcium build up in her kidneys. So, we are off to see a kidney specialist.
I'm writing this to see if anyone else has encountered the same medical mysterys my family has had.  I would love to speak and compare and contrast our findings.
jessicasheridan10 jessicasheridan10
1 Response May 15, 2012

Hello! My name is Alexis and I am 25 years old. I have two boys aged 18 months and 3 months. My first son was born without any complications. He was a 6lbs10oz healthy baby boy. When I got pregnant with my second son my belly started growing rapidly, but my dr didn't seem to notice it. At 17 weeks I paid to have an ultrasound done to know the baby's sex and they told me he was a girl. At 27 weeks I asked my dr if he could I could have an ultrasound to verify the baby's sex seen I know sometimes it isnt very clear before 20 weeks. Well thank God I asked for that because if it weren't for that I wouldn't have known all that was coming. <br />
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The day I got my ultrasound they found some anormalities with the baby. It seemedS that his bladder wasn't normal and I was carrying too much amniotic fluid, so they reffered me to a high risk pregnancy dr. The dr diagnosed the baby with Congenital Diaphragmatic Hernia, ambiguous genitalia (sex unknown) and he was growing too fast. He ordered a FISH test (amniotic fluid) to check his chromosomes to know his sex and to check for down syndrome. He was a 46XY (MALE) and the test came out negative for down. <br />
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My baby was born at 36w4d with a left diaphragmatic hernia, hypospadias, small cleft palate, heart murmur, craniosyntosis and cystic kidneys. He had repair surgery for the hernia a day after his birth. The day they did the surgery, the surgeons came to my room (I was still hospitalized) and told me that the baby had ovaries, uterus and everything. I was in shock and amazed. I didn't know what to think of it, of coarse. So then came the blood tests. They would do test to see what sex the baby was. A month went by and we still didn't know the babies sex until one dr came up to me and told me that he would like to do a biopsy on his gonads to see what it came up. <br />
I still remember the day, March 22, the results for the biopsy came back. They were testes, they just hadn't descended. We finally had a baby boy! Best day of my life (: haha! .. <br />
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Due to the hernia, he was diagnosed with GERD (severe reflux) and they had to wrap the stomach around the esophagous (?) and insert a Gtube. Two months and a half later he is finally out of NICU and home. He still needs more operations but at least he is alive and well. ...