Feb 20, 2009
I am sure many of you know that when you have a baby, there is a newborn screening that is done while you are in the hospital. I have had two other kids and really never thought twice about what could turn up from the results. Now I know. Here is Allyson's story...
Last Thursday our pediatrician called me and told me there was a problem with Allyson's blood work and that he needed to see us right away to talk to him about it. The result he was talking about was a strong indication pointing toward to MCAD which is a metabolic disorder. He told us that knowing she has it has saved her life... wow. It was a day I will never forget because things started to sink in that our daughter was sick and her disease is not common. We will have to see a doctor (a metabolic geneticist) this next week and at that time we will talk to her and get more information about how to help her live with this disease. This disease is a enzyme deficiency where you cannot metabolize fatty acids. In other words, when you and I go to bed our body will use the sugar and then the stored fat if needed and she cannot do this. Right now Allyson needs to eat every 3 hours and over the course of the years, we will be able to add on to that as her body adjusts. It is especially tricky when she gets sick because without food and drink her blood sugar will drop and she can become hypoglycemic and have metabolic crisis. As we have been reading about this disease we have seen that this is when tragedy happens IF you are not aware of MCAD. Parents have found their children in metabolic distress that leads to seizures, coma, mental retardation...and even death. Scary, right? The good thing we are focusing on is that we know.
We are thankful for the screening that we do here in Texas and USA because Allyson can live a long life! I was able to talk to a mom who went to Austin to lobby for the expanded screening to include MCAD. She has a 12 year old son and he lives a very normal life. She had to endure watching her son almost die from this because at the time, MCAD was not screened for. Thankfully they heard the voice of 20 or so moms and we now have the tests for this and other treatable diseases.
We are asking for you to pray for our family. Pray that we would find joy in God and His sovereignty and keep our focus on Him.
Thanks!
Last Thursday our pediatrician called me and told me there was a problem with Allyson's blood work and that he needed to see us right away to talk to him about it. The result he was talking about was a strong indication pointing toward to MCAD which is a metabolic disorder. He told us that knowing she has it has saved her life... wow. It was a day I will never forget because things started to sink in that our daughter was sick and her disease is not common. We will have to see a doctor (a metabolic geneticist) this next week and at that time we will talk to her and get more information about how to help her live with this disease. This disease is a enzyme deficiency where you cannot metabolize fatty acids. In other words, when you and I go to bed our body will use the sugar and then the stored fat if needed and she cannot do this. Right now Allyson needs to eat every 3 hours and over the course of the years, we will be able to add on to that as her body adjusts. It is especially tricky when she gets sick because without food and drink her blood sugar will drop and she can become hypoglycemic and have metabolic crisis. As we have been reading about this disease we have seen that this is when tragedy happens IF you are not aware of MCAD. Parents have found their children in metabolic distress that leads to seizures, coma, mental retardation...and even death. Scary, right? The good thing we are focusing on is that we know.
We are thankful for the screening that we do here in Texas and USA because Allyson can live a long life! I was able to talk to a mom who went to Austin to lobby for the expanded screening to include MCAD. She has a 12 year old son and he lives a very normal life. She had to endure watching her son almost die from this because at the time, MCAD was not screened for. Thankfully they heard the voice of 20 or so moms and we now have the tests for this and other treatable diseases.
We are asking for you to pray for our family. Pray that we would find joy in God and His sovereignty and keep our focus on Him.
Thanks!
March 14, 2009
I know, I am very behind (again) in my blog. Sorry guys!!! Allyson is already over a month and is doing SO well. Jake and I had to get the boys tested as well and they are NEGATIVE!!!! I cried when they called me with the results just to know that they will not have to deal with MCAD. Thankfully Allyson has not gotten sick- no trips to the ER. :) I have to admit that I am doing better in dealing with this but there are many days that I worry too much and practice in my mind the fastest route out of the house with the boys, Allyson, purse and most important the emergency letter and MCAD binder. I have the phone numbers to my doctors ready and know how to get to 3 of the best hospitals for her. Am I prepared?!?! Really, we found out from the metabolic geneticist that in all likelihood she will not just crash on us, she will have a few hours to let us know if the sickness is one where we can ride it out here or if we need medical help. The big thing is whether or not she will stop eating when she is sick and if she does we will be unable to stay home with her. Jake works with a guy and his son has it too -CRAZY coincidence and they have had a lot of trips to the hospital so he warned us to be prepared. I pray daily that we will be prepared and ready to handle the doctors when the time comes!
