The Beginning of Emma's story
Dear Friends & Family,
Dean and I are very late in getting this started, but a lot has gone on since Emma came into our lives. Not only was it an adjustment bringing a new baby home, but to deal with a disorder as well has been a lot to handle.
As most of you know already, four days after Emma was born, we found out that she had PKU. The nurses drew blood from Emma's heel after she was born and from those labs, it was determined that she had the disease. Most people who don't know what that means, let me try to explain it simply. Emma's body is unable to break down proteins, so therefore it builds up in the system, and dumps into the brain and becomes toxic. If left untreated she would have had brain damage, but because we caught it very early she is going to be fine. I have been able to breastfeed, but we still had to put Emma on a special formula as well to keep her levels under control.
Dean and I never actually had PKU ourselves, but are carriers, so this is how Emma got it. We have been meeting with a Metabolic Specialist, Dr Koch, now in his 80's and retired, but has offered to work with us until we get Emma's levels under control. He would like her levels to be in between 120-360. Emma's highest has been around 1800, and the lowest she has been was 121.
We are not able to find out how severe a case that Emma has until she is old enough that we can draw 10 ml's of blood and have it sent to Denmark to see what strands of DNA she has. Dr Koch seems to think she has at least one mild strand because her levels jump up and down on a weekly basis. It has been a guessing game because the liver is very immature right now, so we have had to change her dosage of formula and breastmilk each week.
With all that said, we hope you all enjoy our site with all the pictures of Emma. She is growing like a weed! It is amazing how fast time flies. We are having so much fun with her and just trying to enjoy every minute we have with her. Thank you for all your love, prayers and support. We couldn't have gotten this far without them.
Love,
Dean, Denise, Millie, & Baby Emma Sophia
Dean and I are very late in getting this started, but a lot has gone on since Emma came into our lives. Not only was it an adjustment bringing a new baby home, but to deal with a disorder as well has been a lot to handle.
As most of you know already, four days after Emma was born, we found out that she had PKU. The nurses drew blood from Emma's heel after she was born and from those labs, it was determined that she had the disease. Most people who don't know what that means, let me try to explain it simply. Emma's body is unable to break down proteins, so therefore it builds up in the system, and dumps into the brain and becomes toxic. If left untreated she would have had brain damage, but because we caught it very early she is going to be fine. I have been able to breastfeed, but we still had to put Emma on a special formula as well to keep her levels under control.
Dean and I never actually had PKU ourselves, but are carriers, so this is how Emma got it. We have been meeting with a Metabolic Specialist, Dr Koch, now in his 80's and retired, but has offered to work with us until we get Emma's levels under control. He would like her levels to be in between 120-360. Emma's highest has been around 1800, and the lowest she has been was 121.
We are not able to find out how severe a case that Emma has until she is old enough that we can draw 10 ml's of blood and have it sent to Denmark to see what strands of DNA she has. Dr Koch seems to think she has at least one mild strand because her levels jump up and down on a weekly basis. It has been a guessing game because the liver is very immature right now, so we have had to change her dosage of formula and breastmilk each week.
With all that said, we hope you all enjoy our site with all the pictures of Emma. She is growing like a weed! It is amazing how fast time flies. We are having so much fun with her and just trying to enjoy every minute we have with her. Thank you for all your love, prayers and support. We couldn't have gotten this far without them.
Love,
Dean, Denise, Millie, & Baby Emma Sophia
posted by Emma Sophia Hughes @ 12:49 AM
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