Back in April, our geneticist, Dr. Curry, found a scientist in Germany who is currently studying the genes that cause Fraser Syndrome. There are two known genes that cause over 50% of the cases, but the rest of the cases are caused by unknown genes. Kc, Noah, and I send blood samples off to Germany for the scientist to analyze. Before Ryan was cremated we saved a few samples of his DNA, so we were able to send that to Germany as well.
On Monday, we met with Dr. Curry and she delivered the results from Germany. Noah officially has Fraser Syndrome. Both Kc and I have a common recessive gene, FRAS1, that we passed onto Ryan and Noah.
Coincidentally, we got the unofficial diagnosis of Fraser Syndrome from Dr. Curry on a Monday in February. Maybe I need to be more selective about the days I make appointments with doctors...especially Dr. Curry! I suppose, however, in a weird way it is nice to have an official diagnosis. As we continue to venture on the journey, God has provided us with everything we could possible need. We have amazing doctors, awesome friends, and loving families surrounding us each and every day. The answers we are seeking are slowly being provided and the help we need is always there. God is bigger than I could possibly fathom and loves us even more. Wow!
Showing posts with label fraser syndrome. Show all posts
Showing posts with label fraser syndrome. Show all posts
Wednesday, August 5, 2009
Monday, February 9, 2009
Fraser Syndrome
Yesterday was a perfect example of two steps forward, one step backward. The three of us had been having a beautiful couple of days in the NICU. We've had a string of great nurses, we are discovering that Noah is a "spitter" (he just spits up a lot), and have spent plenty of time holding and cuddling.
Dr. Curry, the geneticist, came to look at Noah in the afternoon. She did a thorough evaluation and told us that she is positive Noah has a VERY rare syndrome called Frazer Syndrome. Apparently, both Kc and I are carriers of a recessive gene. When we have children, they have a one in four chance of getting both recessive genes passed on and developing Frazer Syndrome. We have had two sons and both of them had the syndrome. Dr. Curry was certain that Ryan was miss diagnosed with Potters Sequence, and that he had Frazer Syndrome. This is an incredibly rare syndrome. Dr. Curry does not think she has seen a case before in her 34 years as a geneticist. Some of the research I have done on the internet states that there have been less than 200 documented cased in the past twenty years.
Most children with Frazer Syndrome do not live past one year of age. Noah seems to be less severe than most cases. Of his many defects, most of them can be fixed with surgery. He will have several surgeries in the next two years to repair his imperforated anus, fix his club feet, enlarge his trachea, separate the small webbing between his third and fourth fingers, and fix the strictures in his urethra. What we are uncertain, and most scared about, are his sight, hearing and cognitive development. Most children with Fraser Syndrome are blind. Noah does seem to respond to light so we think he has some vision, but it is probably very limited. Dr. Curry has ordered a MRI of his right eye, but thinks that what is under the skin is not developed enough to be useful. We will know more at the end of this week.
Most children with Fraser Syndrome have some hearing loss and cognitive difficulties. Noah does respond to loud sounds as well as Mamma's soft voice. We think he will have some hearing, but are not sure how much. As far as his cognitive abilities, once again, we are hopeful because Noah seems to act like a typical two week old. He is happy when he is dry, fed and nobody is bothering him. He gets fussy, and downright irate, when people are poking and prodding. He has good muscle tone and is working on holding his head up.
It is truly amazing that I, who carry a recessive gene, met and fell in love with another person who carries the very same recessive gene. This has huge implications for whether or not we have any other children, but I think we are getting ahead of ourselves. One step at a time. It is nice to finally know what we are dealing with and be able to arm ourselves with research (what little there is). We continue to thank you for your prayers and support! You are all amazing!!!
Dr. Curry, the geneticist, came to look at Noah in the afternoon. She did a thorough evaluation and told us that she is positive Noah has a VERY rare syndrome called Frazer Syndrome. Apparently, both Kc and I are carriers of a recessive gene. When we have children, they have a one in four chance of getting both recessive genes passed on and developing Frazer Syndrome. We have had two sons and both of them had the syndrome. Dr. Curry was certain that Ryan was miss diagnosed with Potters Sequence, and that he had Frazer Syndrome. This is an incredibly rare syndrome. Dr. Curry does not think she has seen a case before in her 34 years as a geneticist. Some of the research I have done on the internet states that there have been less than 200 documented cased in the past twenty years.
Most children with Frazer Syndrome do not live past one year of age. Noah seems to be less severe than most cases. Of his many defects, most of them can be fixed with surgery. He will have several surgeries in the next two years to repair his imperforated anus, fix his club feet, enlarge his trachea, separate the small webbing between his third and fourth fingers, and fix the strictures in his urethra. What we are uncertain, and most scared about, are his sight, hearing and cognitive development. Most children with Fraser Syndrome are blind. Noah does seem to respond to light so we think he has some vision, but it is probably very limited. Dr. Curry has ordered a MRI of his right eye, but thinks that what is under the skin is not developed enough to be useful. We will know more at the end of this week.
Most children with Fraser Syndrome have some hearing loss and cognitive difficulties. Noah does respond to loud sounds as well as Mamma's soft voice. We think he will have some hearing, but are not sure how much. As far as his cognitive abilities, once again, we are hopeful because Noah seems to act like a typical two week old. He is happy when he is dry, fed and nobody is bothering him. He gets fussy, and downright irate, when people are poking and prodding. He has good muscle tone and is working on holding his head up.
It is truly amazing that I, who carry a recessive gene, met and fell in love with another person who carries the very same recessive gene. This has huge implications for whether or not we have any other children, but I think we are getting ahead of ourselves. One step at a time. It is nice to finally know what we are dealing with and be able to arm ourselves with research (what little there is). We continue to thank you for your prayers and support! You are all amazing!!!
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