A family’s journey with HHT

When Yeiden Pérez Camacho imagines the long run, he sees himself on a basketball court docket. At 13, he’s already an award-winning athlete in a number of sports activities, together with basketball, volleyball, tennis, and desk tennis. His 8-year-old sister, Adienee “Adi” Pérez Camacho, is a budding gymnast who loves cooking and crafting along with her household.

Yeiden and Adi grew up in Puerto Rico with their mother, Mirenis, and pa, Rigoberto. From a younger age, they each skilled frequent nosebleeds, complications, respiratory difficulties, and different signs that have been handled as separate points by their native care groups. However in 2024, an extended seek for solutions revealed a single underlying trigger: hereditary hemorrhagic telangiectasia (HHT), a uncommon genetic dysfunction that impacts how blood vessels kind.

Looking for solutions for Yeiden

Regardless of Yeiden’s historical past of well being issues, he had at all times been lively. However by early 2024, these issues started to worsen.

In January, Mirenis seen Yeiden was slowing down, and she or he knew one thing was improper. He was tiring simply and dropping energy — at instances practically fainting. His once-monthly complications have been approaching as typically as three or 4 instances per week and growing in severity. His lips started turning blue.

As Yeiden’s situation worsened, Mirenis pushed for solutions, bringing him to the emergency room many times. Every time, the sample was the identical: Yeiden’s oxygen ranges have been low, his care workforce handled him for an bronchial asthma assault, and he was despatched house. Mirenis insisted one thing else was occurring, however her issues weren’t absolutely addressed.

After weeks of repeated visits and worsening signs, docs agreed to do additional testing. Imaging revealed arteriovenous malformations in Yeiden’s mind and lungs, and he was identified with moyamoya disease, a uncommon situation that causes blood vessels within the mind to slender.

Surgeons tried a process to deal with the AVMs in Yeiden’s mind however stopped after discovering an aneurysm. They deliberate to strive once more, however the process was deemed too dangerous to proceed. Ultimately, Yeiden’s native care workforce delivered tough information: There was nothing extra they might do.

An surprising pathway to hope

That summer season, the household traveled to Boston to go to Yeiden’s godmother. Simply two days after arriving, Yeiden developed a extreme nosebleed, and Adi started having bother respiratory. Alarmed, Mirenis and Rigoberto introduced each children to the emergency division at Boston Youngsters’s Hospital.

Within the ED, clinicians targeted on stabilizing each kids and ordered extra imaging for Yeiden. Two neurologists then reviewed his scans and defined that, with specialised care and shut follow-up, Yeiden may very well be handled.

Because the dialog continued, it turned clear that Yeiden’s care would take extra time than the household had deliberate for after they arrived in Boston. Staying would give Yeiden entry to the care he wanted, and the opportunity of a more healthy future. It might additionally imply leaving their lives and neighborhood behind.

Mirenis and Rigoberto weighed their choices. In the long run, they selected the trail that gave Yeiden the perfect likelihood ahead: shifting their household to Boston.

Coordinated care presents promise for Yeiden

Additional analysis by Boston Youngsters’s physicians revealed that Yeiden’s signs weren’t attributable to moyamoya illness, however by HHT. This shift in analysis helped clarify the total vary of his signs, significantly his lung involvement, and opened the door to extra focused remedy.

The household lastly had a solution — and a workforce ready to behave. Specialists in pulmonary medicine, hematology, genetics, neurosurgery, and interventional radiology shortly got here collectively to plan Yeiden’s care.

After evaluating Yeiden, interventional radiologist Dr. Mohammad Amarneh carried out a pulmonary AVM embolization in December 2024 — a minimally invasive process that closes irregular blood vessels utilizing tiny coils delivered by way of a skinny tube known as a catheter.

Throughout the process, Dr. Amarneh guided the catheter by way of Yeiden’s blood vessels to the irregular connections in his lungs, sealing the AVMs. His oxygen ranges improved virtually instantly, and he wanted much less supplemental oxygen.

Yeiden’s neurosurgeon, Dr. Alfred See, reviewed his mind scans and medical historical past and carried out a specialised imaging check known as an angiogram to carefully look at the blood vessels in his mind. The check confirmed cerebral proliferative angiopathy (CPA), a particularly uncommon kind of mind vascular malformation that may seem much like AVM however represents lower than 5 % of mind vascular malformations seen by surgical and interventional suppliers worldwide. Dr. See and the workforce at Boston Youngsters’s Cerebrovascular Surgery and Intervention Center (CSIC), who specialise in CPA, developed a plan to deal with it.

Adi’s analysis

Two days later, Mirenis met with Dr. Saba Sheikh, Adi’s pulmonologist. Whereas there, she introduced up Adi’s historical past of nosebleeds and respiratory challenges, which carefully resembled Yeiden’s.

“I assumed Adi may additionally have HHT,” Mirenis recollects.

Dr. Sheikh expedited Adi’s genetic testing so the household might get solutions as quickly as doable. The outcomes confirmed Mirenis’ issues: Adi additionally had HHT.

“Listening to that was very laborious,” Mirenis says. “However we have been glad to have came upon early.”

Together with her analysis confirmed, Adi was in a position to start care straight away. Yeiden’s docs turned Adi’s docs as effectively, and the household continued ahead with a shared care workforce by way of CSIC.

Therapeutic in a brand new house

In February 2025, Yeiden underwent a second surgical procedure to deal with his mind aneurysm. Medical doctors handled the portion that posed the best danger and can proceed to watch the remaining. His oxygen ranges at the moment are much more secure, and he not wants supplemental oxygen in the course of the day. He’s again at school part-time and in a position to play the sports activities he loves.

“Again in Puerto Rico, they instructed him perhaps he shouldn’t play anymore,” says Mirenis. “Right here, his physician mentioned, ‘No extra restrictions. Let him dwell as usually as doable.’”

Adi is doing effectively, too. She has had two embolization procedures, with extra anticipated sooner or later. Her oxygen ranges proceed to enhance, and her care workforce is carefully monitoring her well being.

Leaving Puerto Rico to construct a life in Boston was profoundly tough, however Mirenis stays assured it was the precise determination for her kids.

“We’re actually blissful to be right here — not simply due to the remedy, however due to the care and the way in which they deal with my kids,” she says. “It’s been an extended street, however each time we come to Boston Youngsters’s, it seems like house. I do know we made the precise determination.”

Learn more about interventional radiology at Boston Children’s.