Bone fracture, a blessing in disguise

Blake and Kayla Spellman

Beyond their blue eyes and big smiles, Blake and Kayla Spellman share a unique, hidden bond.

In February of 2014, 15 months after inquisitive and fun-loving Blake was born, there was something amiss. He was holding his arm as if in a sling and his parents didn’t know why. Seeking an explanation, the Spellmans took Blake to see his pediatrician.

“After the doctor came back from viewing an x-ray, you could just tell she was concerned, beyond an obvious broken wrist,” says Blake’s dad Dan. “She ended up recommending we take him right to Boston Children’s Hospital.”

At the Emergency Department at Boston Children’s, Blake was referred to Orthopedics and then to Endocrinology, where he was seen by Dr. Nina Ma, a pediatric endocrinologist and director of the Bone Health Program at Boston Children’s.

“When I looked at the x-ray, I saw cupping and fraying at the wrist, which is a sign he might have something called rickets,” says Ma.

Rickets is a softening and weakening of the bone typically caused by a lack of vitamin D in the diet or insufficient sun exposure. However, Blake was a great milk drinker and an otherwise healthy boy who spent a lot of time outdoors.

“That evening Dr. Ma called to let us know Blake’s calcium level was dangerously low, and it would be best to bring him to Boston Children’s,” says Dan.

A rare, inherited form of rickets

Ma visited Blake’s hospital room the next day, pulled up a chair and began describing and illustrating Blake’s diagnosis—a rare, inherited form of rickets known as vitamin D-dependent rickets type 1 (VDDR-I) or pseudo-vitamin D-deficiency rickets. This means he lacks the 1-alpha-hydroxylase enzyme and as a result can’t convert the inactive form of vitamin D to the active form.

Blake at 15 months with broken wrist from ricketsShe explained how Blake’s bones were fragile and prone to breaking. To treat effectively, it would be necessary to bypass the enzymatic defect with a medication that is the active form of vitamin D.

“With treatment, Blake’s calcium level in the blood began to rise,” says Ma. “This suggested not only that Blake was receiving the correct treatment, but it also added clinical support we made the right diagnosis.”

Blake did develop “hungry bone syndrome,” a condition where the bones are hungry for substrate, so his lab tests got worse before they eventually got better. But this did not mean he got worse clinically. In fact, clinically he responded swiftly and remarkably well.

After months of numerous blood tests (so many that Blake and Kate in Phlebotomy knew each other by first name), weekly visits to Dr. Ma and several medication adjustments, Blake’s labs were back in normal range.

But the story doesn’t end there. Before Blake’s broken wrist, the Spellmans learned Blake’s mom Jen was pregnant.

“You need two affected copies of the CYP27B1 gene for the 1-alpha-hydroxylase enzyme not to function, so if each parent harbored one copy of the affected gene, there is a 25 percent chance of having another child with VDDR-I,” says Ma.

Kayla was born in September, and Ma began monitoring her. In October, her calcium level came back normal, but there was still a chance she could be affected. When Kayla attended one of Blake’s routine checkups, Ma decided to send her to the lab for some tests.

A familiar phone call

“That night we got a call from Dr. Ma,” says Jen. “I know she works endless hours for her patients, but a call after 9 p.m. wasn’t a good thing.”

Kayla was at a critical calcium level. This was the first indication Kayla might have the same inherited form of rickets Blake had. When calcium levels get too low in babies it can cause muscle weakness and seizures.

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“In many ways, Blake unknowingly was of help to his sister,” says Jen. “She really needed a prompt dose of medicine we already had at home because of Blake.”

Following a week spent in the NICU to stabilize her calcium levels and monitor her heart rate and oxygen, Kayla was approved to return home.

Blake and Kayla’s future is promising. Their medications may require adjustments as they grow, but Ma says it is just a matter of finding the right balance.

“Words cannot express how appreciative we are to have Boston Children’s nearby and the best of the best in pediatric care,” says Dan. “Everyone has been so exceptional. However, our Dr. Ma might truly be the most special doctor on the planet. What she has done and continues to do to make our family healthy and happy can bring us to tears—happy tears. We started with a broken bone; today, we have two kids who will be able to run, play and live a beautiful life. As Blake recently said, ‘We love you Dr. Ma.’”

Kayla and Blake Spellman

Learn more about the Boston Children’s Bone Health Program.