Rank: Newbie
Groups: Member
Joined: 3/30/2008
Posts: 3
Points: 9
Location: St Pete, FL
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I am so happy to have found a support group online for families like ours. In all of the other on-line support groups no one has ever heard of SRPS. We became pregnant with our first child in 2006. Our son Jake was diagnosed at 18 weeks as having SRPS in November 2006. We went in for a routine ultrasound and were initially told our son would be a little person. The next day we had a level II ultrasound with a specialist in maternal fetal medicine. There, they diagosed Jake as having SRPS. They had never dealt with an SRPS baby and did not have a lot of answers. We met with another leading specialist in our area who agreed to record the ultrasound for us so we could send it to Dr. Krakow at Cedars in LA. This specialist confirmed Jake had SRPS, but we were still in shock. The next day Dr. Krakow confirmed that Jake did have SRPS. Our son, Jacob Paul Sheridan was born a little over 1 year ago on March 16th, 2007 at 37 weeks. He was with us for a beautiful 39 minutes. Our time with him was too short. We were so lucky to have NILMDTS with us to capture beautiful images of our gorgeous son. He looked just like his dad and it was the happiest and saddest moment of our lives. Not a day goes by that I do not miss my son. Trying again is the scariest thing I have ever faced. If we do get pregnant again, Dr. Krakow has agreed to do an ultrasound for us around 14 weeks. We set up a donation in Jake's name at Cedar's to aid in research for skeletal dysplasia research. I hope that one day we can identify this horrible gene that robs us of our children. If anyone would like to contact me, my email address is mandy_roberts20@hotmail.com
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Rank: Guest
Groups: Guest
Joined: 12/18/2007
Posts: 2
Points: -188
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Hello Mandy,
My name is Katie from Atlantic, IA. It was wonderful to hear your story. As I read it I had chills, as it sounded eerily similar to our situation. I have lost two babies to SRPS type ll: a daughter named Michaela Leigh in June of 06 and another daughter named Alayna Diane on January 4th. With our first pregnancy we were also told that they thought it looked like a dwarf, but they weren't really sure, as they had no clue what they were looking at. Our Dr.s in Omaha had no experience with this rare disorder and didn't even know how to direct us or properly council us. So I did my own research and later came into contact with Dr. Krakow at Cedar Sinai. She is currently studying the DNA from our last daughter, and we are told that she is getting close to finding our 'bad' gene. She has been another amazing source of encouragement for me and my husband.
Up until we received a diagnosis I was sure that I was to blame for my baby's deformities. I thought that I had not ate enough greens, should not have stood so close to the microwave, should not have drank the water from the tap......I came up with all kinds of reasons. It was so hard for me to simply accept the fact, even after the diagnosis, that my babies are what they are because of a recessive gene. It was hard because I needed to be able to 'fix' the situation, and if it was genetic then it meant it was out of my hands, there was nothing I could do about it. And that was tough for me to accept.
I fully understand your fear of trying again, we also have that fear. But we have heard of so many SRPS couples that have had healthy, beautiful children. So my husband and I cling to that hope, yet we always remain prepared for the reality of our situation. We can have healthy babies some day, it's just that our situation is more or less a game of Russian roulette. Hang in there, stay hope filled and keep in touch.
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Rank: Newbie
Groups: Member
Joined: 1/10/2008
Posts: 2
Points: 6
Location: Nanuet, NY
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I can happily report that my husband and I have a 16 month old "safe arrival", our daughter Autumn was born December 4, 2006, almost one year after our son, AUstin was originally due (december 17, 2005)...we lost him in my 22nd week on AUgust 17, 2005.
And I can tell you my 2nd pregnancy was extremely stressfull (even having been told that Austin's skeletal dysplasia was not genetic). We had bi-weekly ultrasounds starting at my 12th week. We thought after we passed the 22nd week hurdle that we would breath easier. Not so much. We just took it day by day....bombarded the doctors with phone calls and heart beat checkups.
It was a very scary decision to try again after we lost Austin, but we did it. And I know Austin is looking after his little sister. . . and the way she stares at his Angel and sometime just stares over my shoulder, I know he is right here with us.
Take things day by day...you will know when the time is right.
You will always be scared. But someday your desire to try again will surpass that fear.
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