Verona-Juventus
2 years ago
Sunday, December 28, 2008
Friday, December 19, 2008
Thursday, December 18, 2008
Always more to learn about DiGeorge/22Q DELETION
DiGeorge syndrome is caused by a deletion of chromosome 22.
It is genetically inherited. Parents may not even know they are carriers.
1:4000-1:6345 children are born with DiGeORGE.
Characteristics of DiGeorge :ALWAYS a heart deformation. From a murmur to a severly disfigured heart. Other characteristics are small, wide set eyes, short jaw, small ears,poor or non-existent immune system, hypocalcemia,hyperthyroidism, slow mental development, speech(they may sound as if they are deaf) and learning difficulties,seizures, And much more...
There is a SIMPLE blood test(FISH) to determine if you have 22q deletion before you become pregnant,FATHER'S should also be tested!
Until recent years these problems were not lumped together as a syndrome.
Our daughter was born 23 years ago with 3 holes in her heart that were repaired when she was 3 mos. old.. She was small, had speech difficulties,and learning disabilities.
Not until her son was born and was tested , had we ever heard of this syndrome before. It explained alot , as we had been to many doctors over the years and recieved no answers.
Learning that Elijah had DiGeorge was just the beginning . It was so involved and no-one truly seems to understand all the factors.His heart condition was known as pulmonary atresia with tetrollogy of fallot, which is normally found in newborns during autopsy. It is very rare for a child to survive birth with pulmonary atresia because it means his heart never formed a pulmonary artery, which carries oxygen from your heart to your lungs. We immediately began to research and learn as much as possible. We kept journals on everything, constantly adding new information to our files learning how to care for him as we went. Our experience was many Dr's from Columbus,MS. TO BOSTON, MASS.who were mostly educated by the info. WE gave them. Along the way , one or two knew just enough to convince us that they knew what to do for him, but in the end basically he was a guinea pig, especially in Children's Hospital of Boston.
We were told that Boston was the only place in the U.S. that could build a pulmonary artery for him. Our experience there was awful.The surgeon,Dr.E.Bacha, used a conduit that he said would have to be replaced in 2-3 years. He seemed to know what he was doing,but the rest of the staff treated us like dumb rednecks,and my grandson like an oddity who was a perfect teaching TOOL. After 6 terrible weeks there,we finally returned home where we changed pediatricians b/c Dr. Hill, claimed to have knowledge of DiGeorge and was supposedly a high risk pediatrician. Turned out, he had NO clue, at even a sneeze he sent us running to Jackson,Ms. children's cardiac unit.After awhile of that nonsense and no help for baby Elijah we again changed pediatricians to a high risk Dr. near home. He seemed quite confident and did alot to help our ANGEL, but in the end his confidence could not save our baby.
The conduit that was placed in his heart in Boston, failed in 8 mos. and as his system suddenly shut down from Edema that took over his body and he was gone from us within an hour. Even the Docs in the E.R. hadn't a clue about what DiGeorge was, we had to explain it to them along with all of his other issuesas they were trying to save him.
This suffering can be prevented if we educate ourselves and others. There are worse things than having a sick child, having a sick child that Dr's are afraid of because they lack knowledge is worse.
ALL ob/gyn's and pediatricians should be aware of this syndrome. I intend to tell Elijah Caldwell Marsh's story to anyone who will listen.
We have lost our ANGEL, but he will never be forgotten.
Grammie will always Love you "Beans"
It is genetically inherited. Parents may not even know they are carriers.
1:4000-1:6345 children are born with DiGeORGE.
Characteristics of DiGeorge :ALWAYS a heart deformation. From a murmur to a severly disfigured heart. Other characteristics are small, wide set eyes, short jaw, small ears,poor or non-existent immune system, hypocalcemia,hyperthyroidism, slow mental development, speech(they may sound as if they are deaf) and learning difficulties,seizures, And much more...
There is a SIMPLE blood test(FISH) to determine if you have 22q deletion before you become pregnant,FATHER'S should also be tested!
Until recent years these problems were not lumped together as a syndrome.
Our daughter was born 23 years ago with 3 holes in her heart that were repaired when she was 3 mos. old.. She was small, had speech difficulties,and learning disabilities.
Not until her son was born and was tested , had we ever heard of this syndrome before. It explained alot , as we had been to many doctors over the years and recieved no answers.
Learning that Elijah had DiGeorge was just the beginning . It was so involved and no-one truly seems to understand all the factors.His heart condition was known as pulmonary atresia with tetrollogy of fallot, which is normally found in newborns during autopsy. It is very rare for a child to survive birth with pulmonary atresia because it means his heart never formed a pulmonary artery, which carries oxygen from your heart to your lungs. We immediately began to research and learn as much as possible. We kept journals on everything, constantly adding new information to our files learning how to care for him as we went. Our experience was many Dr's from Columbus,MS. TO BOSTON, MASS.who were mostly educated by the info. WE gave them. Along the way , one or two knew just enough to convince us that they knew what to do for him, but in the end basically he was a guinea pig, especially in Children's Hospital of Boston.
We were told that Boston was the only place in the U.S. that could build a pulmonary artery for him. Our experience there was awful.The surgeon,Dr.E.Bacha, used a conduit that he said would have to be replaced in 2-3 years. He seemed to know what he was doing,but the rest of the staff treated us like dumb rednecks,and my grandson like an oddity who was a perfect teaching TOOL. After 6 terrible weeks there,we finally returned home where we changed pediatricians b/c Dr. Hill, claimed to have knowledge of DiGeorge and was supposedly a high risk pediatrician. Turned out, he had NO clue, at even a sneeze he sent us running to Jackson,Ms. children's cardiac unit.After awhile of that nonsense and no help for baby Elijah we again changed pediatricians to a high risk Dr. near home. He seemed quite confident and did alot to help our ANGEL, but in the end his confidence could not save our baby.
The conduit that was placed in his heart in Boston, failed in 8 mos. and as his system suddenly shut down from Edema that took over his body and he was gone from us within an hour. Even the Docs in the E.R. hadn't a clue about what DiGeorge was, we had to explain it to them along with all of his other issuesas they were trying to save him.
This suffering can be prevented if we educate ourselves and others. There are worse things than having a sick child, having a sick child that Dr's are afraid of because they lack knowledge is worse.
ALL ob/gyn's and pediatricians should be aware of this syndrome. I intend to tell Elijah Caldwell Marsh's story to anyone who will listen.
We have lost our ANGEL, but he will never be forgotten.
Grammie will always Love you "Beans"
Tuesday, December 16, 2008
Elijahs legacy
This story is about a very rare , very serious disorder called DiGeorge syndrome.
On 10-18-07
Elijah was born weighing in at 3#11oz. & 16 " long. Minutes after his birth, it was discovered that he did not have a pulmonary artery. This is the main artery in your heart! He was med-vac ed to jackson, ms. where he spent the next 33 days on a ventilator. Once he was regulated he was put on portable oxygen and a heart monitor + 7 medications. Soon after that he had a grandmahl seizure which led to the discovery of DiGeorge, also known as 22q deletion. Now, there is a simple test that can be performed BEFORE pregnancy to determine this syndrome. If you are a carrier you should not risk having children. Most DiGeorge babies do not live past 1 year. We were lucky, we had 13mos.& 11 days with our "Beans".
April 14,2008 , we went to Boston ,Mass. to have a pulmonary artery built. The operation was a success,but there were terrible complications and he barely weighed 6 #. After 6 long weeks in boston, we finally came home. Throughout his life, he suffered many complications. After the initial surgery, he was off portable oxygen and breathing on his own, but was on 9 daily meds 4 times a day. He did not have an immune system, hypocalcemia caused seizures,hyperthyroidism caused delayed growth and depleted his strength. He hardly ever left home , except to go to Dr. appts. Still, he was the center of my universe.
Thanksgiving 2008, he was doing very well, had not been sick, and finally weighed 10# 3oz.!
He enjoyed pumpkin pie and cranberries!
Sat. Nov.29,2008, He became adjatated, my daughter, his wonderful mother, called to ask if we could take him to the e.r. because he didn't seem right.
Upon arrival to the e.r. he rapidly deteriorated before our eyes. As his mommy, pa-pa & I held on tight and prayed to God to help him he went into kidney failure from Edema, and within 30 minutes he was gone. My sunshine had burned out . FOREVER.
The e.r. doc said he had never seen anyone taken over by edema so quickly, he said Elijah's arteies had closed up. If he had gotten a heart cath done a week before, he would be alive today.
The heart cath had been scheduled for Dec.4
Please read all you can on DiGeorge before becoming pregnant. And if you are living with a child with this syndrome, I will do anything in my power to help you get the help that you need. We were floundering about in a sea of doctors with little understanding of this horrible syndrome.
My daughter and her husband will not be able to have any other children due to this.
...... We are so lost right now and the pain is so debilitating it is hard to breathe........
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