So, at our 6 month well baby check-up, Ayden Jane looked good. She was 50th percentile for length and 20th for weight and was smiling more and even making some noise. Our pediatrician said to go ahead and start solid foods and we continued to hope that whatever Ayden Jane had been struggling with was something of the past that she was somehow working through.
We gave Ayden Jane the standard American first foods starting with grains. She loved it and had no trouble eating it. It felt like the stress of eating was finally subsiding as she still was not thrilled with her bottle. Ayden Jane began to pack on some weight, but it was almost a relief and our others had all been chubby babies... It was gradual to us.
In early June 2008 Ayden Jane was 8 months. We had a follow up appointment at MUSC and I remember having a hard time rounding up the energy to go. It was always draining going to the follow ups and having them ask questions and pick apart Ayden Jane. It was all done to help her and solve the question of what was going on, but it was hard. She was 'filling out', starting to sit up on her own, head control was much better... Where I thought we were was sooooo different than where we really were.
As it turned out, Ayden Jane's growth curves had crossed and just when I thought things were beginning to look good, the geneticist saw things very differently. She was now 20th percentile for length and 50th for weight. She had not grown at all in 2 months. (In length that is. and I even made the geneticist measure her again!) We were sent to the lab for blood work and I once again had the words Prader-Willi Syndrome pounding in my head. How could it be? We had already dodged this one....
The test was positive for PWS UPD. Ayden Jane was diagnosed with the form of PWS that requires a more difficult test. As near as I can tell, the FISH test which they had done when AJ was much younger picks up the deletion form. It can tell that there is genetic material missing in that region. However, Ayden Jane has 2 copies of my genes on that gene region, which of course, still means no copies of Daddy. Because there is genetic material there the FISH test cannot pick up the PWS via UPD. The methylation test can look close enough to tell that genes in that area are duplicate and that the region is shut down by the body because of it. Either way, the result is PWS.
Showing posts with label diagnosis. Show all posts
Showing posts with label diagnosis. Show all posts
Saturday, December 26, 2009
Friday, December 18, 2009
0-1 month
Okay, so I will be honest. I have avoided recapping Ayden Jane's early days. It is funny how even though she is now 2, just to look at pictures or think about those days brings up such fresh emotions. I can be cruising along with all positive thoughts about AJ's future and 'wham' out of nowhere the wind is knocked out of me and I am back in time praying that our little one will 'wake up' and be okay.
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Ayden Jane was born on a Mon. evening. I was induced at 39 weeks, not because there was anything wrong, just because I had a history of 9 pound plus babies... The day was long and Ayden Jane struggled several times. Once or twice it looked like a C-section was on the way and then with repositioning she would bounce back. Apparently our active little one had a very long cord which was now regularly pinching. When she was finally ready, the doctor was delivering another baby so we had to wait a min. Yep, just wait. When she arrived, gloved up and said okay Ayden Jane came flying out. I am told she was even airborne for a moment and was caught by her ankle as she tried to fly right past the doctor. What I remember most about it though was when they put her up on me for me to see. She was PURPLE and she did not cry very loud. I just wanted them to take her away and help her.
That night she was okay, but just not quite the same as my others. She thought about nursing, but just couldn't seem to make herself do it. The staff just said not to worry, she had a long day and would be okay. By the next day, concern was growing. She still was not interested in food and did not seem to be getting any stronger. She just had a weak look in her eyes that made me wonder... That afternoon the doctor decided to test for sepsis and place her on an IV. It made sense and so when I went to sleep that night I hoped by the next morning she would be on her way to recovery. While I slept, the nurses took great care of her and were on the phone with my husband. Apparently, they nearly life flighted her out that night, but decided she was stable enough to wait 'til morning and go by ambulance. I woke up during the wee hours of the morning to check on her and she was so weak, now hooked up to IV and oxygen. She was slipping away.
Wed. morning they discharged me, (although not excited about it) and we followed the ambulance to MUSC, about 90 min. away. My parents and wonderful neighbors and friends took care of the 3 big kids. Once there, the awesome staff at MUSC began to take her off the oxygen, started feeds through and ng tube and began to test for all they could think of. Ayden Jane, however, spent Thurs and Fri motionless and non responsive. I just watched her for hours, waiting to see if she was still in there. I could barely hold her as her oxygen stats would begin to drop if her neck shifted even a tiny bit. She just had zero muscle tone. Finally, late on Fri., there were glimmers of movement; a foot, an eye trying to open. I held her and could feel there was more to her. By Sat. she felt like a 'real' baby for periods of time during the day. Each day she became stronger and she started to make attempts to feed. My favorite time with her was her late feeding. Usually around 10:30. The whole place was just so much quieter and I could just hold her and rock her....
The following week she just gradually improved and began taking most of her feeds by mouth. My days were spent just hanging out waiting for time to change and feed her and waiting for the doctors rounds to hear any news. She was obviously a bit of a mystery as each day when they made rounds her 'crew' got larger. More specialists, more residents... No answers. At 12 days old she was taking her entire feed by mouth and we were discharged with follow up instructions, lots of well wishes and no answers.
Her first week home we went on our schedule of eating every three hours. Yep, day and night. Ayden Jane still did not really care to eat, she never cried, and was rarely active but she now lived in a very 'stimulating' environment. As hard as we all tried, AJ just wasn't quite strong enough to fly on her own yet. By the end of the week she had not lost weight, but had not gained any either. We ended back at the hospital as failure to thrive. Gary took this shift as I just needed a break and needed my big kids. There they switched her from breast milk to formula, worked with a cleft palate bottle, speech therapists... and after one more week she came home feeding on her own and strong enough to maintain herself. After one month, we were all under one roof and getting into a routine.
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Ayden Jane was born on a Mon. evening. I was induced at 39 weeks, not because there was anything wrong, just because I had a history of 9 pound plus babies... The day was long and Ayden Jane struggled several times. Once or twice it looked like a C-section was on the way and then with repositioning she would bounce back. Apparently our active little one had a very long cord which was now regularly pinching. When she was finally ready, the doctor was delivering another baby so we had to wait a min. Yep, just wait. When she arrived, gloved up and said okay Ayden Jane came flying out. I am told she was even airborne for a moment and was caught by her ankle as she tried to fly right past the doctor. What I remember most about it though was when they put her up on me for me to see. She was PURPLE and she did not cry very loud. I just wanted them to take her away and help her.
That night she was okay, but just not quite the same as my others. She thought about nursing, but just couldn't seem to make herself do it. The staff just said not to worry, she had a long day and would be okay. By the next day, concern was growing. She still was not interested in food and did not seem to be getting any stronger. She just had a weak look in her eyes that made me wonder... That afternoon the doctor decided to test for sepsis and place her on an IV. It made sense and so when I went to sleep that night I hoped by the next morning she would be on her way to recovery. While I slept, the nurses took great care of her and were on the phone with my husband. Apparently, they nearly life flighted her out that night, but decided she was stable enough to wait 'til morning and go by ambulance. I woke up during the wee hours of the morning to check on her and she was so weak, now hooked up to IV and oxygen. She was slipping away.
Wed. morning they discharged me, (although not excited about it) and we followed the ambulance to MUSC, about 90 min. away. My parents and wonderful neighbors and friends took care of the 3 big kids. Once there, the awesome staff at MUSC began to take her off the oxygen, started feeds through and ng tube and began to test for all they could think of. Ayden Jane, however, spent Thurs and Fri motionless and non responsive. I just watched her for hours, waiting to see if she was still in there. I could barely hold her as her oxygen stats would begin to drop if her neck shifted even a tiny bit. She just had zero muscle tone. Finally, late on Fri., there were glimmers of movement; a foot, an eye trying to open. I held her and could feel there was more to her. By Sat. she felt like a 'real' baby for periods of time during the day. Each day she became stronger and she started to make attempts to feed. My favorite time with her was her late feeding. Usually around 10:30. The whole place was just so much quieter and I could just hold her and rock her....
The following week she just gradually improved and began taking most of her feeds by mouth. My days were spent just hanging out waiting for time to change and feed her and waiting for the doctors rounds to hear any news. She was obviously a bit of a mystery as each day when they made rounds her 'crew' got larger. More specialists, more residents... No answers. At 12 days old she was taking her entire feed by mouth and we were discharged with follow up instructions, lots of well wishes and no answers.
Her first week home we went on our schedule of eating every three hours. Yep, day and night. Ayden Jane still did not really care to eat, she never cried, and was rarely active but she now lived in a very 'stimulating' environment. As hard as we all tried, AJ just wasn't quite strong enough to fly on her own yet. By the end of the week she had not lost weight, but had not gained any either. We ended back at the hospital as failure to thrive. Gary took this shift as I just needed a break and needed my big kids. There they switched her from breast milk to formula, worked with a cleft palate bottle, speech therapists... and after one more week she came home feeding on her own and strong enough to maintain herself. After one month, we were all under one roof and getting into a routine.
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