Rare Disease

In May 2026, my partner and I believed we were preparing to lose our daughter. What began as a routine pregnancy quickly became a journey into an extraordinarily rare genetic condition—one that, at the time, our doctors believed had never been documented before in a fetus during pregnancy.

At my 10- to 12-week nuchal translucency ultrasound, something immediately caught the doctors’ attention. Our baby wasn’t moving normally. She was tightly curled into a ball, with her arms and legs fixed against her body. Instead of watching the joyful movements parents hope to see, the sonographer grew quiet. We were referred to a larger maternal-fetal medicine center nearly two hours from home. There, specialists believed our daughter had body stalk anomaly, a devastating condition that is almost always fatal. We were told to prepare for the worst.

Weeks later, that diagnosis changed. The specialists no longer believed it was body stalk anomaly. Instead, they suspected amniotic band sequence, believing strands of tissue inside the uterus had disrupted her development.

Still searching for answers, we traveled to a children's hospital, and we underwent a fetal MRI, a detailed ultrasound, and a fetal echocardiogram. Again, we were told that our daughter was likely not compatible with life. She remained locked in the same curled position, showing little ability to extend her limbs. The physicians believed there was an underlying genetic condition, although they also saw amniotic bands that didn’t appear to be directly causing her deformities.

Desperate to understand what was happening, I underwent an amniocentesis. We were told the genetic results would take about two weeks. Instead, we waited more than a month. Every day felt like a lifetime.

While waiting, we sought yet another opinion at a different hospital. We weren’t ready to stop fighting for our daughter. The specialists there questioned everything we had been told before. They did not believe this was classic amniotic band sequence because the bands did not appear to be constricting her body. Instead, they described what they saw as more of a “shrink-wrap” appearance surrounding her. They were also deeply concerned by my extremely low amniotic fluid, which could interfere with our daughter’s lung development before birth. Once again, we heard the words no parent ever wants to hear: they did not believe she was compatible with life. Then the phone rang.

Our genetic counselor had the answers. Our daughter had inherited two disease-causing variants in the AEBP1 gene—one from me and one from her father—causing AEBP1-related classical-like Ehlers-Danlos syndrome (clEDS type 2), an extraordinarily rare recessive connective tissue disorder that affects collagen, which helps hold the body together.

The counselor explained that the condition could cause fragile tissues, severe joint abnormalities, poor wound healing, scoliosis, vascular complications, gastrointestinal problems, and other potentially serious complications. Then came another shocking statement. They told us they were unaware of any previously published prenatal case describing a fetus diagnosed with AEBP1-related clEDS type 2. There was almost no information to guide our doctors or help predict what would happen next. We were living in medical unknowns.

Every ultrasound raised more questions than answers. Then, on July 24, 2026, at 35 weeks and 1 day of pregnancy, everything changed. My water broke. I arrived at the hospital already four centimeters dilated. Because of our daughter’s condition, I delivered her by Cesarean section. She weighed 3 pounds 5 ounces and measured 15 inches long. Against the expectations we had heard for months…

She cried.

She was alive.

Today, she continues to surprise everyone.

She remains in the NICU but has done remarkably well. She requires only a nasal cannula delivering 21% oxygen—essentially room air. Considering the prognosis we were repeatedly given throughout pregnancy, every milestone she reaches feels nothing short of extraordinary. We know her journey is only beginning. AEBP1-related clEDS type 2 remains incredibly rare, and many questions about her future cannot yet be answered. But our daughter’s story has already taught us something powerful: Medicine depends on evidence. Sometimes, someone has to become the first evidence.

If sharing our daughter’s journey helps even one family find hope, encourages one physician to consider another diagnosis, or inspires researchers to better understand this rare disease, then every difficult mile we traveled and every heartbreaking conversation we endured will have served a purpose.

Our daughter entered this world entered this world carrying one of the rarest known connective tissue disorders.

But she also arrived carrying something else.

Hope.

#ehlersdanlossyndrone #raresyndrome #RareDiseases #zebrastrong #warrior

In May 2026, my partner and I believed we were preparing to lose our daughter. What began as a routine pregnancy quickly became a journey into an extraordinarily rare genetic condition—one that, at the time, our doctors believed had never been documented before in a fetus during pregnancy.

At my 10- to 12-week nuchal translucency ultrasound, something immediately caught the doctors’ attention. Our baby wasn’t moving normally. She was tightly curled into a ball, with her arms and legs fixed against her body. Instead of watching the joyful movements parents hope to see, the sonographer grew quiet. We were referred to a larger maternal-fetal medicine center nearly two hours from home. There, specialists believed our daughter had body stalk anomaly, a devastating condition that is almost always fatal. We were told to prepare for the worst.

Weeks later, that diagnosis changed. The specialists no longer believed it was body stalk anomaly. Instead, they suspected amniotic band sequence, believing strands of tissue inside the uterus had disrupted her development.

Still searching for answers, we traveled to a children's hospital, and we underwent a fetal MRI, a detailed ultrasound, and a fetal echocardiogram. Again, we were told that our daughter was likely not compatible with life. She remained locked in the same curled position, showing little ability to extend her limbs. The physicians believed there was an underlying genetic condition, although they also saw amniotic bands that didn’t appear to be directly causing her deformities.

Desperate to understand what was happening, I underwent an amniocentesis. We were told the genetic results would take about two weeks. Instead, we waited more than a month. Every day felt like a lifetime.

While waiting, we sought yet another opinion at a different hospital. We weren’t ready to stop fighting for our daughter. The specialists there questioned everything we had been told before. They did not believe this was classic amniotic band sequence because the bands did not appear to be constricting her body. Instead, they described what they saw as more of a “shrink-wrap” appearance surrounding her. They were also deeply concerned by my extremely low amniotic fluid, which could interfere with our daughter’s lung development before birth. Once again, we heard the words no parent ever wants to hear: they did not believe she was compatible with life. Then the phone rang.

Our genetic counselor had the answers. Our daughter had inherited two disease-causing variants in the AEBP1 gene—one from me and one from her father—causing AEBP1-related classical-like Ehlers-Danlos syndrome (clEDS type 2), an extraordinarily rare recessive connective tissue disorder that affects collagen, which helps hold the body together.

The counselor explained that the condition could cause fragile tissues, severe joint abnormalities, poor wound healing, scoliosis, vascular complications, gastrointestinal problems, and other potentially serious complications. Then came another shocking statement. They told us they were unaware of any previously published prenatal case describing a fetus diagnosed with AEBP1-related clEDS type 2. There was almost no information to guide our doctors or help predict what would happen next. We were living in medical unknowns.

Every ultrasound raised more questions than answers. Then, on July 24, 2026, at 35 weeks and 1 day of pregnancy, everything changed. My water broke. I arrived at the hospital already four centimeters dilated. Because of our daughter’s condition, I delivered her by Cesarean section. She weighed 3 pounds 5 ounces and measured 15 inches long. Against the expectations we had heard for months…

She cried.

She was alive.

Today, she continues to surprise everyone.

She remains in the NICU but has done remarkably well. She requires only a nasal cannula delivering 21% oxygen—essentially room air. Considering the prognosis we were repeatedly given throughout pregnancy, every milestone she reaches feels nothing short of extraordinary. We know her journey is only beginning. AEBP1-related clEDS type 2 remains incredibly rare, and many questions about her future cannot yet be answered. But our daughter’s story has already taught us something powerful: Medicine depends on evidence. Sometimes, someone has to become the first evidence.

If sharing our daughter’s journey helps even one family find hope, encourages one physician to consider another diagnosis, or inspires researchers to better understand this rare disease, then every difficult mile we traveled and every heartbreaking conversation we endured will have served a purpose.

Our daughter entered this world entered this world carrying one of the rarest known connective tissue disorders.

But she also arrived carrying something else.

Hope.

#ehlersdanlossyndrone #raresyndrome #RareDiseases #zebrastrong #warrior

Hi, my name is Jerry. I suffer from a rare disease that causes debilitating pain and loss of mobility. I also have struggled to get and keep adequate pain relief from doctors and pharmacies.

#MightyTogether #ChronicPain