Imagine the luck: you are born with a rare blood disorder that puts you at #22 of all registered cases in the US, that’s about 0.00000007. Your chances of getting elected as president to the US twice over are higher. In fact, the chances that your entire family will be struck by lightning are higher. Those are the stakes behind Baby Elias, a 9-month-old Greek-American boy from Ann Arbor, Michigan. He was born with a super rare autoimmune disorder, Nuclear factor-kappa B Essential Modulator, called NEMO for short. His story as told by his mother Evelyn Argrokastritis reveals how an apparent family curse can become the catalyst for awareness of blood diseases and a race to get Greek names on the bone marrow donor registry program.
When Baby Elias was born, his mother noticed that he had turned bright red a few hours after birth. The rash started from the crown of his head then advanced in stages down his neck and torso. The nurses dismissed it as allergies to the baby outfit or blanket or other environmental irritants. But mom Evelyn’s intuition told her otherwise. She would take the infant from one doctor to another pleading, “Something is wrong with my baby.” The doctors dismissed his condition as allergic to the baby formula or to the environment. This is not uncommon because NEMO is so rare very few doctors can actually even diagnose it properly. Evelyn already had another child, sister Eleni, now two, who had had a normal development. Knowing the difference between the two children made Baby Elias’ case even harder for her. “I stayed in the hospital for 2 and a half months straight in an 8X12 room,” Evelyn reports. “It was the most trying time of my life.”
“I got sick and tired of them telling me it was the formula, to change his formula,” she relates fighting back tears. At two months, at October 20th she took Elias to the emergency room of their local hospital in Ann Arbor, Michigan. After a battery of X-rays, ultrasounds and other diagnostics, he was transferred to the oncology unit where he was kept for two and a half weeks during which time his parents were not able to see or touch him. “They wouldn’t let me feed my child, they would keep him on TP nutrition. He was getting worse and no one would listen to me. I was crying every day, ‘you are going to kill him.’ Until October 31st, when something gave me the courage to get him out.” He was transferred to a larger children’s hospital an hour away. He was so weak at that point because he had not been keeping anything down and had lost blood. They found a fungus was growing in his lungs, keeping him from breathing. It was only until he was 4 months old that he was able to sit up thanks to the proper antibiotic they had administered. At this hospital he was finally given the proper diagnosis: NEMO. It so happened that one of the four doctors that had seen these kinds of cases in the world worked at that particular hospital and was able to treat him properly enough to allow him to return home.
“Fate brought me to that hospital,brought me to that doctor, brought me to that moment, the whole world aligned,” Evelyn recounts.
Baby Elias is stable at home but lives in a germ-free environment. He cannot contract any bacterial infection. Even yiayia and pappou have to wait 72 hours after going out in public before visiting him just to be sure they have not been exposed to others who might transmit microbes that might get him sick. The slightest viral or bacterial infection is enough to lose him. Luckily, Evelyn can rely on the Greek village, “my wonderful husband, in-laws, aunts and uncles, my mother who moved out of California and returned home to be with us—they are all on stand-by, bringing food and support round the clock.”
The Cracking the Curse of Dead Boys in the Family Line
NEMO is a sex-linked disorder, which means it is carried on chromosome 27 on the X chromosome. Because women carry two X chromosomes, they are carriers but because it is a recessive trait rarely exhibit symptoms. Boys, on the other hand, because they only carry one X chromosome succumb to the disease almost exclusively. According to primaryimmune.org, a genetic education site, NEMO “can involve many different parts of the body and often manifests in different ways in different individuals. The most common symptoms are skin disease and susceptibility to certain bacterial infections that can be severe and affect virtually any part of the body.
The NEMO syndrome was originally described as an association between ectodermal dysplasia (ED) and susceptibility to infections. Patients with ED have thickened skin, conical teeth, absence of sweat glands, and thin, sparse hair. In addition to the dry, flaky skin of ectodermal dysplasia, patients with NEMO deficiency have a range of infections with pus-inducing (pyogenic) organisms (Pneumococcus and Staph) being the most common. Infections may be found virtually anywhere in the body, including the lungs, skin, central nervous system, liver, abdomen, urinary tract, bones and gastrointestinal tract. Almost all cases of NEMO occur in boys.”
Part of the mystery of NEMO lies in the fact that it has gone undetected and undiagnosed in the past because of lack of genetic testing. People believed a young boy died due to infection or high fever. Deaths could not be pinned to it as it was undiagnosed. (The only other recent case reported in the news involved two siblings in Wales in 2009). There had been stories of many boys dying young in Evelyn’s family. Her own brother died young. Her aunt’s first son died before age 7. When she laid out the family tree, in total seven boys had died from her mother’s side alone. It felt like a curse.
Many in the village they were from outside of Igoumenitsa claimed it was the “evil eye” two busybody old ladies had given the child. It was hard to get her relatives to talk about death, even more so the death of a small child. The mystery would have stayed in the grave if it were not for the accurate diagnosis Baby Elias’ condition brought to light.
Armed with knowledge, Evelyn and her family have undergone major genetic testing. It turns out she is a carrier, her mother is a carrier, her grandmother and her great grandmother are carriers, even her little daughter is a carrier.
“I had to crack my family tree in order to find the correct diagnosis,” Evelyn narrates.
The need for education is the one mission driving Evelyn. Had Evelyn known that she could have kept Elia’s umbilical cord that harbored the precious blood with the stem cells that would have cured his illness today, his name would not have made headlines; his case would have been a story that never needed to be told. Unfortunately, it takes the worst to discover the truth. This is why Evelyn urges all moms and women of child bearing age to donate their cord blood or else keep it in case their own child needs a transplant in the future.
Bone Marrow Drive
The family has been reaching out to the greater Greek American community in the Northeast, Midwest and in Greece, in the hope of finding that single donor that will provide a perfect match an 8 out of 8 match as it is called for Baby Elias.
Jordan Segal, the key contact for New England and tri-state region of DKMS, the host company organizing the donor drive for Baby Elias, became a donor long before working for the company itself. He registered to become a donor while still in college in 2011 when his friend and fraternity brother ran a donor drive on campus. To his surprise, less than a year later he was found to be a near match for a recipient in his 50s. Even though he never met the man, he said, “It was the best thing I had done in my life because that man is still alive today because of what I did.” After his experience with the bone marrow donor program, he switched majors from something abstract and academic to something more people oriented. Eventually he was hired by DKMS as a project manager. Coincidentally, his sister’s boyfriend, also named Jordan, was saved by a transplant donor.
NEED FOR EDUCATION
Segal states that the biggest challenge for getting the registry up-to-date is education. “People don’t really think about until someone close to them is directly affected,” he explains. “But it should operate like organ donation except that you can donate while still living.” Unlike an organ donation that waits for death in order to become available, both stem cells and bone marrow are living tissues that can be replaced by the body; stem cells take a couple of days to replace while bone marrow a couple of months, according to Segal.
Another misconception that Segal brings up, especially in the Greek community, is that a spinal tap is needed for bone marrow transplant. That is not the case. There are two major ways for donating bone marrow. Close to 75% of most donations come from what’s known as “peripheral stem cell blood donation.” The same blood-forming cells that are found in bone marrow are also found in the circulating (peripheral) blood. In this case, blood is removed through a needle in one arm and passed through a machine that will collect only the blood-forming cells. The remaining blood is returned through a needle in the other arm. The other 25% of the time bone marrow donation involves drilling into the pelvic bone to extract marrow. Segal describes it as a “pelvic poke” that might hurt as much as if you were to fall and suffer from a bruise. According to the National Marrow Donor Program website, “Bone marrow donation is a surgical, usually outpatient procedure that requires anesthesia during which doctors use a needle to withdraw liquid marrow from the back of the pelvic bone.
DKMS is the German company that runs the bone marrow registry. While the US has other donor registries, the National Marrow Donor Program being the largest, DKMS is the only one that is global operating in Germany, Chile, UK, US and Poland. Because it runs its own labs, it keeps costs low. There is no charge to register. Registration involves signing a waiver and taking a sample swab of cheek tissue; three quick swabs off both cheeks using the three long Q-tip sticks and you are done. The best likelihood for success involves donors within 18-44 years of age, but DKMS accepts donors up to age 55, the only one to do so.
“Out of the 14,000 people who will need a bone marrow transplant in the United States,” Segal noted, “only 7,000 will find donors. So there is less than a 50% chance that a donor be found.”
This is why Segal stresses the importance of getting on the registry, “You are literally giving someone a second chance of life.”
The best part of his job he claims is setting up meeting between donors and recipients.
Evelyn Argrokastritis remains hopeful that a miracle meeting will take place for her son. “I have grown in my faith through all this,” she says. “Every time I changed his diaper and saw blood and I thought I would lose him, I’d log onto the Orthodox Moms Facebook page to ask for prayers. You cannot underestimate the power of prayer. The prayers got him through so far.”
In the meantime, the quest for finding that NEMO donor for Baby Elias continues. To register as a bone marrow donor, look out for more organized drives on the way by subscribing to our social media.
For more info, check out:
Facebook Page for Baby Elias
Bethematch.org National Marrow Donor Program
The donor drive for Baby Elias occurred at the Stathakion Center on Sunday, April 28th, with sister initiatives in Michigan and Chicago. More drives are on the way. Follow @greekamericangirl on social media for updates.