FARGO, ND (Valley News Live) Every parent says their child is one in a million, but one North Dakota girl was born with a syndrome so rare she's one of only a few hundred cases in the country. At just five and a half months old Henley Johnson has already undergone live-saving blood transfusions, but now she needs a match - a bone marrow match.
"I kept saying something's wrong with my kid you have to figure it out," Jessica Johnson said while balancing little Henley on her lap.
Henley Johnson looks like a happy, healthy baby girl, but underneath her bubbly exterior her body is fighting to keep her alive. "Even a virus can be fatal for her right now because she doesn't have the immune system or the strength to fight stuff off like normal people do," Johnson explains.
Not long after Henley was born, Johnson noticed that her daughter would go through spells of panting and showing signs of distressed breathing. To add to the worry, Henley would change colors from pale to "grey-ish." Johnson brought Henley in for testing and when she didn't get the answers she wanted, she got a second opinion.
That second opinion turned the family's world upside down. After Johnson showed the new pediatrician photos of Henley's color changes and went over the results of her blood work, the doctor admitted Henley to the hospital.
"The first thing they did was the bone marrow biopsy. She ended up a couple days into the hospital needing a blood transfusion because her hemoglobin kept dropping lower," Johnson said. After further testing and observation, Henley was airlifted to the University of Minnesota's Children's Hospital.
It would be another month of testing and wondering before doctors would give Henley a diagnosis, but when it finally came it was both worrying and relieving to have answers.
"She was diagnosed with a really rare syndrome, it's a bone marrow failure syndrome called Shwachman-Diamond Syndrome," Johnson explained.
Shwachman-Diamond Syndrome is a genetic disorder affecting bone marrow, along with the skeletal system, pancreas, kidneys, teeth, brain, liver and immune system. At five and a half months old Henley just hit 11.5 pounds and isn't on the growth chart yet - but she's slowly working towards it. Henley struggles to gain weight and before her diagnosis her parent's were told it was because she wasn't getting enough nutrients from her mother's breast milk. With the diagnosis however, doctor's explained that Henley's pancreas doesn't create the enzymes needed to break down food for her digestive system to absorb, thus the slow growth. Now, before every feeding, Henley is given a dose of enzyme replacements to help her digest food and gain the weight she needs.
But that isn't the only medicine she relies on. Twice a week Johnson gives Henley a shot to help boost her neutrophil count, which are the cells known as white blood cells. Without this shot Henley is extremely susceptible to illnesses, and while the shot doesn't provide complete immunity, it's necessary to provide a level of immune defense she is otherwise without. She's also received three blood transfusions, all to help keep her body stable.
Henley's treatments have been a great help, but her bone marrow is still failing. Two of her three blood lines - her red and white blood cells - are failing and without a bone marrow transplant Henley's outlook is bleak.
Henley's parents and two older sisters were all tested in the hope they would be the match Henley needed for a life saving bone marrow transplant, but unfortunately, there wasn't a match. So her family turned to the Be The Match, an international bone marrow donor foundation working to match those in need of a transplant to those willing to donate.
Mary Halet, Be The Match Director of Community Engagement, has followed Henley's story and said the situation was unique in that a direct family member was not a match. Henley has been added to the Be The Match database in hopes of finding a donor, and while one hasn't been found yet, Halet says the foundation is adding about 10,000 donors each month and you can, too.
Registering is simple. Halet explains that anyone between 18 and 44 years of age can go to BetheMatch.Org and request a kit. Potential donors are asked a few simple questions, and once the kit comes, Halet says, "they swab the inside of their cheeks and send it back. we use that for the tissue testing and then the individual's added to the registry."
Henley's doctor's would like to find a bone marrow donor match for her within the next three to six months, and both Johnson and Halet say all it takes is one person to be a miracle match.
To find out how to become a bone marrow donor, click the link to the right or follow this link to find Henley Johnson's Be The Match referral page: https://join.bethematch.org/HealingHenley
You could help save a life like Henley's.