Wednesday, January 24, 2024

Midaortic syndrome and renovascular hypertension in NF1

A mother and father are doing everything they can to help other families avoid the sorrow they went through in 2019 — and they are doing it all in their daughter's name.

Jessica and Dan Roomberg, from Lafayette Hill, Pennsylvania, launched the Magical Mila Foundation in honor of their daughter, Mila, who died from Neurofibromatosis (NF) type 1 when she was just over a year old.

When Mila was born on Sept. 16, 2017, the doctors discovered a heart murmur, which they said was not a concern and that it would go away within a year, Jessica Roomberg told Fox News Digital.

During the next few weeks following Mila's birth, Jessica Roomberg and her husband noticed some birthmark-looking patches on Mila's back, so they went to a pediatrician in the Philadelphia area to see what exactly this was.

The pediatrician they met with did not seem concerned about the patches — and told the couple to "just enjoy their time with her," Jessica Roomberg recalled.

"That raised an immediate red flag for me and Dan, so we just started googling everything … and Neurofibromatosis came up."

The parents went back to the pediatrician asking if she had this "on her radar" — but the doctor did not seem concerned.

The couple were still worried about what they'd found on their daughter's back, so they consulted with the genetics and dermatology teams at Children's Hospital of Philadelphia (CHOP).

After a geneticist examined Mila, the child was diagnosed with Neurofibromatosis type 1 (NF) – a genetic disorder that occurs in about one in every 3,000 live births, according to the Magical Mila Foundation's webpage.

"NF1 is characterized by multiple café au lait (light brown) skin spots ... Children with NF1 can have very mild to more severe manifestations. These include learning differences and delays, early puberty, hypertension, scoliosis and tumors. Some children develop tumors in the brain or on the optic nerve. These tumors are generally not cancerous, but they can cause significant health issues or vision impairment," the site continued.

Dan Roomberg said, "When you hear ‘genetic disease,’ you always think one of the parents has it or is a carrier."

He added, "But neither of us had heard of it [or] had it, so with her case, it was a spontaneous mutation."

After receiving the news, the parents were "totally crushed," but immediately began doing research on the disease and looking for the best care for their little girl, they said.

Mila was under baseline surveillance with the NF team at CHOP, so the team could keep regularly check in on her.

"At this point, Mila is going through life great. She is meeting all of her milestones," Jessica Roomberg commented.

"She was just such a joy. The sweetest girl in the world."

When Mila was 14 months old, the Roombergs took her into see doctors for a follow-up visit for the heart murmur that was present at her birth.

"How do we continue to parent Mila? How do we continue her legacy?"

The doctors determined the murmur was no longer there, but they said they needed more imaging because they saw something else, Jessica Roomberg stated.

"They left it at that, and we were just paralyzed," she added.

The family returned to the hospital the following Monday.

Mila received a sedated MRI — and the doctors were stunned at what they found.

Mila's blood pressure was reading 240/110 mmHg, the highest CHOP had ever seen for a child under age three, Dan and Jessica Roomberg noted.

Mila was quickly admitted and physicians began working to lower her blood pressure.

"The reason her blood pressure was so high was because she had a narrowing of her aorta," Jessica Roomberg said.

The point near her belly button was the size of a point on a pencil, she continued.

"All the blood in her body was trying to rush through this really, really tiny space, and it was causing her blood pressure to be astronomical and her heart to balloon," the mom said.

Mila and her parents were at CHOP for over five weeks when physicians finally diagnosed her with Midaortic Syndrome and Renovascular Hypertension — a very rare result of her having NF 1.

The Roombergs and their daughter were released from the hospital before Christmas, but would return each week.

"The plan was in the short term, medicine — and then, in the long term, until she was a little bit older and stronger like three or four years old, to do a major [vascular] surgery," Jessica Roomberg stated.

CHOP does not have pediatric vascular surgeons, so the hospital team shared Mila's case with specialists at the University of Michigan, she continued.

The doctors at CHOP notified the Roombergs that the medicine was not working, and that Mila was in need of emergency surgery in Michigan.

Mila underwent an eight-to-nine-hour revascularization surgery of her aorta and kidney arteries, Jessica Roomberg said.

The surgery was deemed a success, she added.

"The feeling of relief was amazing — however, we had a long road ahead."

After spending the evening by her side, the doctors told the Roombergs that something was wrong.

Mila was rushed into an emergency surgery but went into cardiac arrest during her time in the operating room.

She was put on life support, but the physicians did not see improvement.

They told the Roombergs, "It's time to say goodbye," Jessica Roomberg recalled.

"They turned everything off, and she passed away in our arms," said the heartbroken mom.

Jessica and Dan Roomberg remember going into "the deepest, darkest hole" after their daughter's passing.

They needed to find a new purpose in their life — and they wanted Mila to still be a part of it.

"We wanted to channel our grief into doing something. We needed things just to have scheduled on the calendar the next day to have a reason to get out of bed," Dan Roomberg shared.

Six weeks after Mila died, the Roombergs reconnected with her doctors at CHOP and told them they wanted to do something in her honor.

"How do we continue to parent Mila? How do we continue her legacy?" Jessica Roomberg said she and her husband asked themselves.

In May 2019, Dan and Jessica Roomberg brainstormed with the staff at CHOP. They came up with the angle of their foundation: blood pressure monitoring.

They wanted to come up with something that was specific to Mila's case, but could also impact the lives of children who had similar needs.

"There's a whole list of other genetic conditions that require children under three to have their blood pressure taken," Dan Roomberg said.

"BP [blood pressure] should be measured annually in children and adolescents ≥3 y of age," according to the American Academy of Pediatrics (AAP).

Jessica Roomberg noted that for children under the age of three who have health issues, blood pressure monitoring is required.

Along with the help of Dr. Kevin Meyers, director of the hypertension clinic at CHOP, and Dr. Rachel Hachen, medical director of the Neurofibromatosis program at CHOP, Dan and Jessica Roomberg created the "BP under 3."

"They are wanting to help kids who require a blood pressure measurement [to] get it taken and get it taken properly," Jessica Roomberg said.

"We are really proud of how far we've come, but we have so much to do."

A successful clinical trial was completed at CHOP in which a variety of blood pressure technology was used on children under three who needed a blood pressure measurement; it came up with an accurate reading of their blood pressure.

The technology that is being used measures the blood pressure on the way up, so that it is less painful and stressful for the child, the Roombergs said.

The Magical Mila Foundation funded educational trainings for the staff at CHOP on how to obtain accurate readings on children who are under three, and they've already seen a 200% increase in accurate readings, Dan Roomberg shared.

They just finished a video project with the AAP and the CHOP team sharing Mila's story and the importance of accurate blood pressured on children under three that will now be seen by all providers who are part of the AAP.

"We are really proud of how far we've come, but we have so much to do," Jessica Roomberg continued.

"Nothing will ever hold us back from fighting for her," she added.

The Magical Mila Foundation not only allows the Roombergs to help kids who are in need of pediatric care, but it also helps them feel attached to their daughter, they said.

"This is our way of always being able to parent Mila," Dan Roomberg said.

Since the foundation's creation in 2019, the organization has raised over $500,000 for CHOP.

"Even though she has been gone a lot longer than she was here, we still do things for her every single day," Jessica Roomberg shared.

"She is the heartbeat of our family," Dan Roomberg added.

To learn more about Mila's story and about the Magical Mila Foundation, check out

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