Happy Birthday to Ary — 10 years of Living With Sickle Cell

Sep 12 2012 :: Published in Newborn Screening and Genetics

By Michelle Forman, Senior Media Specialist, APHL

Fred and I have worked together at APHL for two and a half years.  He’s one of our beloved IT guys.  (Tip for new grads: Always butter-up the IT staff.) While a typical conversation with an APHL IT guy generally takes the form of me whimpering that my computer doesn’t work and getting the immediate, “What did you do to it?” my conversations with Fred very frequently turn to parenting.  He’s the dad of five kids, and despite the fact that he always starts a story about them with a sigh or an eye-roll, he loves them to pieces and enjoys sharing his parental wisdom with me.

Yvette, Fred and Ary

This story is about his youngest daughter, Aryiana or Ary as he affectionately calls her.  Ary stormed into Fred’s world ten years ago today – September 12, 2002.

Let’s take a step back…

When Fred was 16, he was told that he had the sickle cell trait, a genetic abnormality that usually does not cause any of the symptoms that come with sickle cell disease.  The doctor told him he probably wouldn’t have any problems, but that if he married someone else with the trait their children could have sickle cell disease.  Even at 16 years old, he took that very seriously.  Years later when he began dating the woman who would become his wife, one of the first questions he asked her was if she too had the sickle cell trait.  “She said she didn’t have it.”

What is sickle cell disease?  It is a group of inherited blood disorders that causes red blood cells to be deformed (sickle shaped — see photo below) and inflexible.  The cells can get stuck and clog blood vessels as they travel through.  As they get stuck, they can cause painful crises, as they are called, in patients as well as other potentially serious complications like stroke, splenic sequestration, and acute chest syndrome, a condition similar to pneumonia.  In children, untreated sickle cell disease can cause delays in development and greatly increases the risk of infection (the most common cause of death among children with sickle cell).  In the United States, all newborn babies undergo screening for several inherited disorders including sickle cell disease.

Fred and Yvette had two children before having Ary.  (His oldest two children were from a prior relationship.) On September 12, 2002 they welcomed their beautiful baby girl.  Because they were experienced parents, they were familiar with newborn screening as part of the battery of tests performed on new babies.  “I didn’t understand it, though.  I didn’t question why it was done – I saw it as a formality at the hospital.”  They took Ary home and started their life as a family of seven.

A few days later the phone rang.  “The person asked for the parents of Aryiana.  That obviously grabbed my attention because she was a newborn!”  They identified themselves as being from the Maryland Department of Health and said that Ary tested positive for sickle cell disease.  “I was really rude,” Fred confessed.  “I knew that both parents had to have the sickle cell trait in order for the child to have the disease, and Yvette didn’t have it.”  He told the person on the phone that they were mistaken and hung up.  They immediately called back.  He hung up on them again.  They called back.  “I told them that what they were trying to tell me was medically impossible.”  The woman on the phone calmly told Fred that she understood but that Ary needed further testing.  Fred agreed to take Ary to their pediatrician who also happened to serve as the county’s health officer.

They ran lots of tests – all were positive.   Fred and Yvette still weren’t convinced.  As far as they were concerned, something was wrong with the tests.  Eventually the pediatrician and his wife, a fellow pediatrician who had been called in to review the case, were baffled and sent Ary to see a hematologist at Children’s National Medical Center in Washington, DC.  She ran more tests – all were positive.  The hematologist sat down with Fred and Yvette and began to explore their family medical histories.  She asked if there were any blood disorders in either family.  Yvette recalled that before Ary was born she was told that she carried the trait for a beta thalassemia.  “I was told it was a Mediterranean blood disorder. No one ever mentioned sickle cell,” she told me.  “That’s it,” the doctor told them.  “Your baby has sickle beta thalassemia, a variant of sickle cell anemia.”

2009Sickle Cell Foundation of Georgia: Jackie George, Beverly SinclairThis digitally-colorized scanning electron micrograph (SEM) revealed some of the comparative ultrastructural morphology between normal red blood cells (RBCs), and a sickle cell RBC (left) found in a blood specimen of an 18 year old female patient with sickle cell anemia, (HbSS); People who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. This is commonly called “sickle cell anemia”, and is usually the most severe form of the disease.Sickle cell disease is a group of inherited red blood cell disorders. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In sickle cell disease, the red blood cells become hard and sticky and look like a C-shaped farm tool called a ?sickle?. The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems.

They were shocked.  “I was very upset.  I wanted to sue someone… anyone!  I was hurt.  I thought about what my baby was going to go through.  This wasn’t what I ever would’ve wanted for my children.”  Fred actually went as far as to meet with an attorney.  “He told me that if I decided to sue, the first question I would have been asked is if I would’ve married my wife had I known this could happen.”  Fred was caught off guard by that question.  He thought about it.  “No.  I wouldn’t have.  I wanted kids.  Always.  To me, getting married meant having a family and I did not want this for my kids.”  I asked Fred if Yvette would say the same thing. He laughed and said he didn’t know… so he called her.  Fred presented her with the same question and she responded the same way.  “No.  I wouldn’t have married you if I had known our kids could have this disease.”

Yvette stayed on the phone and we chatted more about Ary.  I asked her how she felt when they finally confirmed that she did have sickle beta thalassemia.  The phone went quiet.  Yvette began to cry.  Ary is 10 years old, but the memory of that day was still fresh enough to make her emotional.

“I was devastated.”

Fred agreed and said that devastation lasted about six months for him.  “Being able to have her and physically hold her in my arms helped me through it.”

They immediately began giving Ary penicillin twice a day to prevent infection. Infants with sickle cell are extremely vulnerable to infection; in fact, infection is the leading cause of death among patients. Fred and Yvette visited the hematologist at Children’s every six months.  Ary responded so well to the treatment that the diagnosis improved from sickle beta zero thalassemia to beta plus.  On a scale of severity, sickle cell anemia is the most severe with beta zero thalassemia being very similar.  Beta plus falls at the other end of the spectrum and is a far more mild form of sickle cell disease.

Ary also had her hemoglobin, the molecule in red blood cells that carries oxygen, working in her favor.  Most people produce fetal hemoglobin until they are around six months old when they begin producing adult hemoglobin.  Fetal hemoglobin protects the blood cells from sickling, or turning into the crescent-moon shape that causes them to get stuck in blood vessels.  Ary produced fetal hemoglobin until she was six years old; her own body was protecting her from the painful symptoms that come with sickle cell disease.

It wasn’t until Ary was eight that she had her first crisis – several more have followed since then.  The crises leave Ary in a great deal of pain.  The only way to deal with them is to treat the pain with medication and wait for it to pass.  In retrospect, Fred and Yvette can identify what went wrong leading to those crises.  They constantly assess what changes need to be made to Ary’s diet, activity, and her own understanding of her body.  “We have had several conversations with her about monitoring when her body is tired,” Fred told me.  “Knowledge helps us all control this.”

I asked Fred if going eight years without a crisis led them to take things for granted.  “Never,” said Fred.  “From the time Ary was little, she was always doing things she shouldn’t have been doing.”  Fred worried about Ary constantly.  He knew that he needed to be particularly concerned about head injuries with a child who has sickle cell – yet Ary was a rambunctious kid who seemed to accidentally bang her head often. “As a father you want to protect your children, but you can’t keep them from doing things.”

It is hard to say what might have happened without the early diagnosis that followed the positive newborn screening.  “If we hadn’t started the penicillin early, she could’ve gotten an infection.  Who knows.  All I can say is I’m glad she’s still with us.”  Fred doesn’t like to think about what might have been if Ary hadn’t been screened, and understandably so.

Life hasn’t been what Fred and Yvette expected when they got married 22 years ago.  “I have no regrets,” Fred says proudly.  And despite affirming that he would not have married his wife had he known about the possibility of passing sickle cell disease to their children, Fred says “I don’t regret marrying her.  And I don’t regret having Ary.”

Fred has a special relationship with all three of his daughters.  Despite challenges that many parents face with their children as they grow up, Fred makes sure that they know that he’s there for them.  “My daughters will always know that Daddy loves them.”

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