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Rare diseases

I Want Data: Pregnancy When You Have A Rare(ish) Disease

By February 29, 2016 No Comments
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“Can’t you just look at the monitor and tell me when to push?” I asked my nurse. “I feel like I need more data to tell me whether or not I’m getting any closer to having this baby.”

I had been pushing for more than three hours and the epidural left me with little physical data about how my contractions were progressing. After what seemed like an eternity, my nurse looked at me and said “How’s this for data?” She then picked up the intercom and announced “Delivery Room 3.” Soon a sea of medical personnel showed up to help deliver my baby.

As a scientist, I like to have information. This was especially true when I was in active labor, but my quest for data on pregnancy and childbirth actually started about a year earlier. My husband and I are both scientists, so we tend to approach things systematically and with data in hand. So when we decided it was time to start a family, I started to look for information.

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Categories: Chronic Illnesses + Conditions, Pregnancy, Birth + Family Planning

Planning A Pregnancy in the Time of Zika

By February 9, 2016 1 Comment
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Like a lot of couples, my wife and I have waited to start a family until the time was right for us, which just so happens to be now-ish.  Unfortunately the right time for us has coincided with the spread of the Zika virus in North America, a virus that shows an association between infection with it during pregnancy and an increased risk of microcephaly (reduced brain/head size) in newborns. The Zika virus is not a new virus from a historical perspective, however, the newly accepted correlation with microcephaly seems to have given the virus a significant amount of media attention.

For any expectant parent – or couples planning on getting pregnant, like my wife and me  – the possibility of a Zika infection is terrifying.  My wife and I are the kind of people who like to arm ourselves with information, so let’s dive into Zika virus infections and take a look at some facts and figures.

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Categories: Infectious Disease + Vaccines, Pregnancy, Birth + Family Planning

Give Blood, Give Attention: World Sickle Cell Day 2015

By June 19, 2015 1 Comment
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Sickle Cell Disease the most common genetic blood disorder worldwide, but receives comparatively meager research funding. Each year, approximately 500,000 babies worldwide are born with it, with children of African, Latino, Mediterranean and South Asian descent most impacted.

Sickle cell disease is in a group of the most common form of genetic blood disorders. The “sickle” refers to the genetic mutation that changes red blood cells from a donut shape to a sickle (curved) shape. Sickle red cells are also “sticky,” and tend not to flow well through blood vessels. As these cells stick together they block blood vessels causing pain and damage to the bones, heart, lungs, eyes, brain and spleen. People with sickle cell disease live with daily pain, are prone to extended painful crises and strokes. Infection is also a significant part of sickle cell disease and a major cause of death for many children living with it worldwide.

Since the early 1990s, universal newborn screening programs include testing for sickle cell (as part of what’s called a hemoglobinopathy test). While newborn screening helps the youngest among us, many parents are aware of their own sickle cell status.

Newborn screening is crucial so that treatment may begin early. Infants with sickle cell disease are given daily antibiotics to prevent serious infection and closer monitoring for complications. Care for sickle cell disease also includes hydration, pain medication, and blood transfusions. Currently in the US there is only one medication, Hydroxyurea, that reduces cell sickling and pain crises. These care measures have increased life expectancy for people sickle cell to mid-forties from what previously used to be the early teens. Currently, bone marrow transplantation is the only cure.

In the United States alone it is estimated that 70,000-100,000 people live with sickle cell disease with one in 12 patients being African Americans, and approximately 1,000 babies are born in the US with it annually. Sickle cell is considered a rare disease because any disease group that has less than 200,000 cases in the US is considered rare; this classification impacts how research into treatments and cures is funded.

There is controversy as to why sickle cell disease has not received the same support as other rare diseases. Often sickle cell disease is perceived as a “black” disease or disease only impacting people of color. Although federal funding for genetic diseases is about equal, there are substantially fewer private donations for research and treatment for sickle cell disease. Until recently sickle cell disease has also been perceived as a childhood disease and as sickle cell patients transition into adulthood there is limited and fragmented support for care and treatment. There is at least some public push for awareness. In 2008, United Nations declared June 19th as World Sickle Cell Day. So today, on World Sickle Cell Day, here’s what you can do to help:

  1. Learn more about Sickle Cell Disease
  2. Donate Blood
  3. Become a bone marrow donor
  4. Advocate for more funding for sickle cell disease treatment, research and training of health care providers
Resources:

National Institutes of Health. What is Sickle Cell Disease? National Heart Lung and Blood Institute. Last updated June 12, 2015. Retrieved June 18, 2015.

Nemours Kids Health. Blood Test: Hemoglobin Electrophoresis. Retrieved June 18, 2015.

World Health Organization. Sickle Cell Disease and Other Haemogloben Disorders. Last updated January 2011. Retrieved June 18, 2015.

National Institutes of Health. Medline Plus: Hydroxyurea. U.S. National Library of Medicine. Last revised May 15, 2013. Retrieved June 18, 2015.

Centers for Disease Control and Prevention. Sickle Cell Disease (SCD) Data and Statistics. Last updated September 16, 2011. Retrieved June 18, 2015.

Smith et al.  Sickle Cell Disease: A Question of Equity and Quality. Pediatrics.  May 2006. Vol. 117 No. 5 May 1, 2006  pp. 1763 -1770

Manious, A. Et al. Attitudes Toward Management of Sickle Cell Disease and it’s Complications: A National Survey of Academic Family Physicians. Anemia. 2015, DOI 853835

Centers for Disease Control and Prevention. New Study Findings: Are Family Physicians Comfortable Treating People With Sickle Cell Disease? Sickle Cell Disease. Last updated May 22, 2015. Retrieved June 18, 2015.

Facts about Sickle Cell Disease http://www.cdc.gov/ncbddd/sicklecell/facts.html

One Disease Hits Mostly People of Color. One Mostly Whites. Which Gets Billions in Funding? http://www.motherjones.com/environment/2015/05/sickle-cell-cystic-fibrosis-funding-race

 

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Categories: Chronic Illnesses + Conditions, Science 101 + Mythbusting

Organ Donation: A Bittersweet and Generous Gift

By April 7, 2015 1 Comment
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A little over 7 months ago, our 15-month-old son received a liver transplant. Preparations for surgery started at Noon on Saturday. His surgery started at 6 AM on Sunday. He was loaded into one of those cute little red wagons, padded with lots of blankets, and we followed him, his nurses, his IV pole, and tower of IV pumps out of the room and down the hall. We all scrunched into an elevator and road down to the operating floor. We cuddled around him, kissing his head and stroking his hair, while we waited for anesthesia to arrive. We laughed with the nurses and joked with him as he got loopy from the first dose of anesthesia. We posed for pictures together. We prayed over him. And then, we smiled and waved good-bye to him as he was wheeled out for an 8-12 hours surgery. Once he went through the doors, I turned to my husband and said “Well! I’m not going to go to sleep. Want to get some coffee?”

I should back up some. Matthew was listed for transplant when he was just 2 months old. He was born with a urea cycle disorder, a genetic condition that prevents his body from breaking down proteins and deposits ammonia on his brain. It was miraculous that he survived his first 48 hours. It was miraculous that he left the hospital 34 days later. If he was going to have a chance of surviving infancy he needed a liver transplant. And so, when asked if we wanted to consider listing him, we didn’t hesitate.

The gap between those waiting for an organ and organs available. Chart via Health Resources and Services Administration.

The gap between those waiting for an organ and organs available. Chart via Health Resources and Services Administration.

The national organ recipient list works like this. Status 1A: You needed your organ yesterday. Status 1B: You need your organ ASAP. And then, there are numbers assigned to you. The higher the number the more critical you are for receiving your organ. When one becomes available, they start with matches at the top and make their way down until they find an available recipient. Status 1B people simply don’t wait for organs. They move on and off that list pretty quickly.

Except for us.

It is almost unheard of for status 1B patients to be relisted. Matthew was relisted 3 times (as were several other 1B children). Matthew was on the waiting list for almost 6 months before he received his first offer. After prepping him, they found a problem with the donor organ and called off the surgery. More than six months later we got our second, and third, and fourth call, all in the same month. With each one, we went further and further into the process before the surgery was cancelled. Matthew had gone so far as to be sedated and taken back for full anesthesia and PICC line placement before doctors realized that the organ wouldn’t be a good fit for him.

For a year, we were on edge, jumping every time our phones rang, wondering if it would be Matthew’s turn. For a year we wrestled with the reality of organ donation. It meant that for Matthew to live, someone else needed to lose their child. It isn’t easy to think about that side of things. Honestly, it is quite emotional. Throughout our wait, we would be talking with a friend or were out for a run or any random time, really, when the transplant would flit across our minds and we would break down into tears. Tears for the family that has to lose their child. Tears at the realization that if he doesn’t get his transplant soon, that painful loss could well be ours. And tears for the struggle to reconcile the selfishness of wanting our son to live, even at the cost of another life.

Matthew being carried into surgery for the last time.

Matthew being carried into surgery for the last time.

You know that your child is only so big and that their body can only hold a small organ. This tiny bit of knowledge allows you to extrapolate about the donor and their family. “They are offering a partial liver, so the child must be about the size of our oldest daughter.” “The organ is not being split, so it is from a toddler.” Matthew’s liver fit perfectly. It was almost exactly the same size as his. I still can’t think about that without crying. I probably never will. Someone lost their one year old child on August 24, 2014.

There is so much guilt, so much pain, and so much inexpressible thankfulness in the process of being on the receiving end of an organ donation.

We prayed long and hard during our journey. We knew that God had wanted

Matthew to live, that God had (or didn’t have) a perfect liver for Matthew. We knew that God had gifted those surgeons with the skills to replace Matthew’s broken liver with a working one. We never doubted that our decision to list him was the right one. We were able to watch him disappear behind the swinging doors of the surgery floor with smiles on our faces because we had faith that we had followed God’s direction to that point. Everything after was God working through that skilled team to bring about His will. We knew that there was a chance Matthew would not come back from that surgery. But, it was a leap of faith that we had to take.

We see Matthew’s scar every day. It is healing beautifully, but it is still there. It will always be there. And I’m grateful for that. Because as long as that scar is there, I can never forget that somewhere out there is a family mourning the loss of their child and I can never fail to be thankful to them for sacrificing in the face of their grief so that my son, and so many other children could have a second chance at a long, healthy life.

 

 

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Categories: Chronic Illnesses + Conditions