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The importance of being tested for mutations in the MTHFR gene

21 Jan

Osteonecrosis (Avascular Necrosis)

When there is a mutation in the MTHFR gene in an individual, along with another thrombophilic factor (ie. Factor V Leiden), the risk for thrombophilia is greatly increased.

MTHFR stands for Methylenetetrahydrofolate reductase. Another term for MTHFR is NAD(P)H 5,10-methylenetetrahydrofolate.

The MTHFR gene provides instructions that make the enzyme methylenetetrahydrofolate reductase. This enzyme is important because it helps process amino acids and converts 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate.

5-methylenetetrahydrofolate is important because it converts homocysteine to methionine. This conversion is imperative because high homocysteine levels cause narrowing of the arteries and can lead to excessive blood clotting.

There are several polymorphisms (more than one variation) in the MTHFR gene.
Two of the most investigated polymorphisms are the: C677T and the A1298C mutations.

Individuals with the C677T gene mutation suffer from methylenetetrahydrofolate deficiency. This mutation is associated with heart disease, stroke, high blood pressure, high blood pressure during pregnancy (preeclampsia) and hyperhomocysteinemia.

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The DoOverMom – Getting it right

2 Feb

I want a “do-over” – to rewind the clock and change my behavior.  Regrets?  I have many – most of them revolve around my son but the biggest one concerns my daughter.  For a long time I blamed myself for her illness – what caused her life threatening brain disease alluded top researchers but I thought I had it all figured out.  Five years before her first seizure, Beth fell from her infant seat.   I had failed to secure the seat in my car.  I drove around a corner and she slipped to the floor of the car bumping the left side of her head.  A trip to the emergency room reported no injuries but an infant’s brain is so delicate.  For a long time I was so sure that I was the cause of Beth’s suffering.  Hours spent talking with her neurologists helped me overcome those beliefs however during times of “what if’s”, I relive that horrible day and wish for a “do-over”.  Most of my nightmares take me back to my son’s tenth birthday.  It was February 21, 1987 and I sat in Beth’s hospital room watching her shallow breathing and praying that she would emerge from her coma.  I was exhausted and frantic.  Dr. Carson, her neurosurgeon, was confident that she would wake but he couldn’t tell me why her remaining hemisphere shut down.  Her brain stem was swollen and her fever was high.  Daily spinal taps did not reveal infected spinal fluid but he felt that she may need to have a shunt placed in her brain to prevent further swelling.  It was all too much to bear.  I couldn’t imagine leaving her hospital room even for a second.  The thought of celebrating a little boy’s birthday was overwhelming.  Brian was on his way – driving from Connecticut with our son.  One of Beth’s nurses offered to sit with her while we took Brian Jr. to the nearby Inner Harbor mall for dinner and to find a birthday present.  Another nurse made him a birthday cake.  I longed for my son’s hugs and to see his little face.  A child with enormous energy, he was also very sensitive and thoughtful.  I knew he loved his little sister and was confused about the tubes and wires hooked up to her body.  Her entire head was covered in bandages and she wore splints on her right hand and leg.  She had a feeding tube and her eyes were partially shut.  Brian Jr. could not understand why she didn’t answer him.  He truly believed she would wake up and sing Happy Birthday to him.  A typical seven year old, she loved singing the verse – “you look like a monkey and smell like one, too”.  We had cake and sang “Happy Birthday”.  We would save the monkey part for Beth.  After a short while our angel of a nurse, Shonagh Ramsay, came into the room and forced us out.  My little boy grabbed my hand and told me about the new Star Wars Lego set he had hoped he would get for his birthday.  He told me a second time, a third time.  I was deep in thought and did not listen.  His persistent begging for this gift pushed me over the edge and I yelled at him.  I see his shocked and fallen face in my nightmares.  I unleashed my frustrations and sorrow on my little boy – on his tenth birthday!  I told him he was selfish – that his little sister lay in a coma and that she could die!  My husband looked at me in pain.  He knew that I was losing control and he knew that I would surely suffer later.  He grabbed me and hugged me.  I felt sick to my stomach as soon as the words left my mouth.  I tried to recover and salvage what was left of his special day.  We searched every store in the mall for that Lego set but did not find it.  We let him chose a restaurant for lunch and he perked up.  I promised him that I would assign one of his aunts the task of finding the Lego set.  When we returned to the hospital he crawled into the bed with his sister being careful of the tubes and wires and began telling her knock-knock jokes – her favorite.  He told his sister that it would be the “best birthday ever” if she woke up.  She didn’t.  I begged God to help her – to help him – to help me – to help their dad.  HE did!

My “little” boy is now thirty-four years old.  He is a member of the FDNY stationed in Harlem.  He breaks my heart each and every time I see him.  I told him once that I wish I could have a “do-over” – to have been more patient – to give him perfect birthdays.  He replied that he knew I loved him deeply and that I was suffering horribly.  He told me that Beth needed me and that he understood.  My little boy – fighting fires all of his life!

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2 Feb

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