This week was a shocking one for us. Our 1 year old was diagnosed with Turner Syndrome. I guess it can happen to any female newborn and is a total fluke, though somewhat rare....1 in 2500 births. Prior to her diagnosis I had never heard of the syndrome, let alone think one of our children would be diagnosed with it.
A little about it....
Female newborns are given two 'X' chromosomes...one from the mother and one from the father. The problem occurs when one of the 'X' chromosomes doesn't make it and the child lacks one. What happens is somewhat of a guessing game. 99ish percent are unable to have children due to ovarian failure, short stature is a given(average height is rougly 4'8" I am told), heart problems, kidney problems, chronic ear infections, hearing loss, and many many many many more minor to serious problems.
I understand that many parents face a much greater issue with a disease or syndrome that is unbearable to live with. I consider ourselves lucky to have diagnosed the problem at a young age so it can be monitored and treated to an extent.
If anyone out there has a child or friend/relative with Turner's that was diagnosed at a young age, I would be very curious for some more information. Growth hormones and estrogen being the main nucleus of my questions. Estrogen will be a definite medication come teen years so she can develop secondary sexual features. My biggest question is how much the growth hormones will help?
I have heard that many insurance companies will not cover the growth hormone and that they are very expensive. Is it a pill or shot? Daily, weekly or monthly? Has there been a noticeable affect by using the growth hormones?
The doctor bills have already been overwhelming just getting a diagnosis. At birth Addison had very puffy feet and hands(looked like bad swelling). The doctors told us this would go away, but come to find out, along with her dislocated hip at birth this should have been enough right there to suggest Turner's syndrome.
Instead any mention of Turner's we were sent to Minnesota, Omaha, Iowa City, and numerous other smaller specialists/doctor's to receive treatment. None of these did anything but ask for MRI's, Ultrasounds, etc. It wasn't until we started seeing a new pediatrician that anyone mentioned Turner Syndrome.
My wife and I knew something was up from day 1 but everyone looked at us like we were crazy. She was a healthy baby girl....which is true. Everything seemed fine except her feet remained swollen, and other not so noticeable things that stuck out to us.
Like I said before, I am acceptant of the fact that there are many kids out there with more serious conditions, but this is my kid and I want to make sure she has the best possible future ahead of her. One of the biggest problem Turner's patients face I am told is social problems due to their short height(which increases obesity), lack of breast development, and a certain issue caused by Turner's that actually affects the way they deal with people.
I am more that willing to face these challenges, but like every parent, I worry about some of the other problems that are common that have not appeared yet...like the heart, kidney, etc. We have to see a cardiologist next week to check out her heart and have to have an ultrasound of her kidney next to make sure her kidney is not horseshoe shaped.
So if anyone has anything in regards to first hand information, I would love to hear about it. Or if anyone is familiar with assistance programs to cover these thousands and thousands in doctor bills, I would be greatful. I will continue to do what needs to be done to make sure her treatment is received, but surely there is something out there. We don't qualify for any of the lower income assistance.
A pic of Addison at 9 or 10 months ;-) PIC
And the last 2 per request
Family Pic
Wedding Pic
A little about it....
Female newborns are given two 'X' chromosomes...one from the mother and one from the father. The problem occurs when one of the 'X' chromosomes doesn't make it and the child lacks one. What happens is somewhat of a guessing game. 99ish percent are unable to have children due to ovarian failure, short stature is a given(average height is rougly 4'8" I am told), heart problems, kidney problems, chronic ear infections, hearing loss, and many many many many more minor to serious problems.
I understand that many parents face a much greater issue with a disease or syndrome that is unbearable to live with. I consider ourselves lucky to have diagnosed the problem at a young age so it can be monitored and treated to an extent.
If anyone out there has a child or friend/relative with Turner's that was diagnosed at a young age, I would be very curious for some more information. Growth hormones and estrogen being the main nucleus of my questions. Estrogen will be a definite medication come teen years so she can develop secondary sexual features. My biggest question is how much the growth hormones will help?
I have heard that many insurance companies will not cover the growth hormone and that they are very expensive. Is it a pill or shot? Daily, weekly or monthly? Has there been a noticeable affect by using the growth hormones?
The doctor bills have already been overwhelming just getting a diagnosis. At birth Addison had very puffy feet and hands(looked like bad swelling). The doctors told us this would go away, but come to find out, along with her dislocated hip at birth this should have been enough right there to suggest Turner's syndrome.
Instead any mention of Turner's we were sent to Minnesota, Omaha, Iowa City, and numerous other smaller specialists/doctor's to receive treatment. None of these did anything but ask for MRI's, Ultrasounds, etc. It wasn't until we started seeing a new pediatrician that anyone mentioned Turner Syndrome.
My wife and I knew something was up from day 1 but everyone looked at us like we were crazy. She was a healthy baby girl....which is true. Everything seemed fine except her feet remained swollen, and other not so noticeable things that stuck out to us.
Like I said before, I am acceptant of the fact that there are many kids out there with more serious conditions, but this is my kid and I want to make sure she has the best possible future ahead of her. One of the biggest problem Turner's patients face I am told is social problems due to their short height(which increases obesity), lack of breast development, and a certain issue caused by Turner's that actually affects the way they deal with people.
I am more that willing to face these challenges, but like every parent, I worry about some of the other problems that are common that have not appeared yet...like the heart, kidney, etc. We have to see a cardiologist next week to check out her heart and have to have an ultrasound of her kidney next to make sure her kidney is not horseshoe shaped.
So if anyone has anything in regards to first hand information, I would love to hear about it. Or if anyone is familiar with assistance programs to cover these thousands and thousands in doctor bills, I would be greatful. I will continue to do what needs to be done to make sure her treatment is received, but surely there is something out there. We don't qualify for any of the lower income assistance.
A pic of Addison at 9 or 10 months ;-) PIC
And the last 2 per request
Family Pic
Wedding Pic
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