TBX4Life

Read more stories about our TBX4 Heroes below. Learn how YOU can help us!

Story 11: Cure Leah

I am from Malta, a tiny island in the Mediterranean Sea South of Sicily. My daughter Leah is now 9 years old and was diagnosed with Severe PH at 9 months of age. Very recently, we got to know that the reason behind her Pulmonary hypertension is a gene she inherited from me known as TBX4.

Leah was born as a full-term baby in October 2013. We spent 2 months in PICU. At that time they thought she aspired vernix which damaged her lungs. She was on the ventilator, then CPAP then nasal cannula then in air for a few days then again on low oxygen 24/7. Things started getting better but in July 2014, she was getting tired and desaturating. We went to the hospital and found she had severe PH with high pressures above 90. In 3 days we flew to the royal brompton hospital in London for a lung biopsy to seek a proper diagnosis. We were going to lose her many times. she was ventilated, oscillated, and on IV meds including epoprostenol and steroids. We spent 3 months in PICU in a London hospital followed by another 2 months in a hospital in Malta. It was at this time we were told that she has a rare disease in the lungs affecting her heart. We were also told that if not treated with meds or if meds do not work, we could lose her. It was devastating news for us especially since we thought things were settling down. She is the only known child to have Pulmonary hypertension here on the islands. For this reason, she is now being followed by Great Ormond Street Hospital in London.

In 2015 when we started again seeing some improvement in terms of oxygen and echoes, Leah started passing out every night and as time passed even during her mid-day naps. By time and with the help of other families in another group who have children with PH we got to know that these are Pulmonary Hypertension crises. It was a very difficult time seeing our two-year-old daughter turning blue, grinding her teeth, becoming pale, and getting stiff almost every night. We were scared to go to bed at night.

My cousin who works in the US in a hospital for children with pulmonary hypertension, recommended to me that our doctors start her on Remodulin because such crises show that her pulmonary hypertension was getting worse. It took us nine months to advocate for this drug. But we are glad we did. It was a life changer. This medicine gave Leah her life back. However, this medicine is not only for flowers and rainbows. Remodulin is not taken by mouth. It is administered into her skin via a small pump. Leah has a needle inside her arms or hip area. It is very painful when inserted. Leah can not walk or use her arms for the first couple of days with every site change. We change the place where this needle is placed every 4 to 6 weeks. Sometimes even less. It is us her parents who do it and we have shown the doctors and nurses here in Malta what it entails. This medicine has given Leah the strength to do things she likes to do like playing, dancing, going up the stairs, and walking without getting breathless. Due to her pulmonary hypertension, she can not engage in sports because she still gets breathless and tired very easily but she has other hobbies like playing the piano, drama, and sewing. A drawback of subq Remodulin is swimming. The device and the site cannot get wet. Being a small island, with hot summers and surrounded by sea, summers were a challenge until we found a company that can make waterproof drysuits or sleeves. It was again a life changer seeing Leah enjoying the sea like other children.

Unless a Cure is found, Leah will continue to battle this disease for her whole life. We can only hope and pray that Remodulin continues to work for her. If it stops working, her next option will be a lung transplant

By Mariella Camilleri, Leah’s mother

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WAYS TO HELP MAKE A DIFFERENCE

Every dollar/euro/pound/etc counts and every donation brings us one step closer to a cure. Thank you for your generosity and support!

WHERE WILL YOUR DONATIONS BE USED?

Every single penny donated will go directly towards ongoing research by TBX4Life, which is being conducted by several leading hospitals and universities worldwide. Our goal is to provide funding for this research, which will ultimately lead to a cure for TBX4 Syndrome for both children and adults. If we exceed our fundraising goal, all additional funds will be put towards further research by TBX4Life Team

WHY IS THE FUNDRAISING GOAL SO HIGH?

Clinical trials can be extremely expensive, amounting to millions of dollars. In situations where rare diseases are involved, large pharmaceutical corporations may not show interest due to the lack of potential profit. Without adequate funding, the research may not be conducted. Hence, even a small donation can have a significant impact in assisting us to attain our objective.

WHAT IS NEEDED TO FIND A NEW TREATMENT?

TBX4Life Website

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Chapter 10: Cure Alíta

Our beloved daughter Alíta has faced many challenges in her little life. After her birth, the nurse detected irregularities in her breathing, which led to her being placed on a ventilator later that day. During her first week, she showed steady improvement, but her doctors struggled to pinpoint the cause of her pulmonary hypertension, a condition in which the blood pressure within the arteries of the lungs is abnormally high. This increased pressure can put a strain on the heart and potentially lead to heart failure if left untreated. They also discovered she had an Atrial Septal Defect (ASD). ASD is a heart condition characterized by a hole in the wall that separates the heart's two upper chambers. This defect can lead to the mixing of oxygen-rich and oxygen-poor blood, causing many complications.

After a week, doctors tried to remove her from the vent, but the process did not go smoothly. Alíta's condition worsened, leaving her medical team uncertain about her chances of survival. It was ultimately up to Alíta to fight for her life. Miraculously, she improved significantly and was taken off the ventilator.

After a month, we were able to bring Alíta home on medication for her pulmonary hypertension. After two months of treatment, her doctors believed she no longer required the medication.

When Alíta began attending school, she experienced recurring illness. Over 2 1/2 months, we spent 7 nights at the hospital where she underwent numerous tests. She was admitted for a cardiac catheterization. The procedure revealed that her pulmonary hypertension levels were quite high, and she resumed her medication.

In December, Alíta's doctors discovered she has the TBX4 mutation, which we learned runs in our family. She then underwent a series of tests to better understand her condition. Although she did not require additional medication at the time, she may need it in the future.

Please consider donating to support research to find better treatments and ultimately cure TBX4 Syndrome. Every contribution, no matter the size, will make a difference in the lives of those affected by this disease.

By Leó and Ólöf, Parents of Alíta

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Chapter 9: Cure Miah

Our beautiful daughter Miah's journey began on May 2nd, 2019, in Springfield, IL. She arrived five weeks early, and at first, everything seemed fine. But as soon as she was separated from me, her mother, she stopped breathing and turned blue. The medical team swiftly placed her on a ventilator to help her breathe. Gradually, Miah's condition improved, and she transitioned from the ventilator to a bi-pap, then a high-flow cannula, and eventually to a normal cannula for oxygen support. However, we were bewildered when she still required 0.5 L of oxygen to maintain her oxygen levels in the mid-90s even after spending a month in the NICU. Extensive tests showed no major issues, and all imaging results were within the normal range. Thus, we were sent home with the continued need for oxygen.

As we settled into our routine at home, we began to notice alarming episodes where Miah would briefly lose consciousness before returning to normal. Our instincts told us that something wasn't right. Taylor's mother, who works at Mercy Hospital in St. Louis, suggested seeking a second opinion at St. Louis Children's Hospital. Armed with all the information we had received in Springfield, we scheduled an initial consultation. The doctors at St. Louis Children's Hospital suspected pulmonary hypertension, which was later confirmed through a right heart catheterization. Miah was diagnosed with idiopathic (unknown cause) pulmonary hypertension. Wanting to explore all avenues, we decided to pursue genetic testing, and to our surprise, the results revealed a genetic mutation of TBX4 from Taylor's side of the family. Miah's treatment plan at that time included two medications for pulmonary hypertension and a low-dose corticosteroid.

Christmas morning of 2020 turned into a nightmare when Miah suddenly became unresponsive. We rushed her to St. Louis Children's Hospital by air, where the incredible doctors and medical team worked tirelessly to save her. Adjustments were made to her medications, and she was switched to another more powerful drug, which has made a tremendous difference in her condition. That day remains etched in our memories as one of the scariest moments of our lives, and we wouldn't wish it upon anyone.

In addition to her pulmonary hypertension, Miah also faced the challenge of being exposed to the respiratory syncytial virus (RSV), which led to her spending over a week in St. Louis for recovery. To ensure her oxygenation, she had to be sedated, allowing a full-face oxygen mask to be properly utilized. It was another frightening ordeal for our family.

Every day, Miah bravely battles this disease. It limits her ability to play as freely as other children her age. She requires breaks and must wear oxygen while sleeping. We find ourselves avoiding events and situations that could expose her to sickness, even something as simple as a common cold. However, we are determined to allow Miah to experience a "normal" childhood, despite the challenges she faces.

Our hearts are filled with prayers for a cure, not only for Miah but for all the other TBX4 patients out there. We long for the day when this syndrome can be defeated. We humbly ask for your support in our fundraising efforts to find a cure for TBX4 Syndrome. Together, we can make a significant impact on the lives of these children and their families. Let's join hands and give hope to all TBX4 PHighters.

Taylor and Carly Herzog, Miah’s parents

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Chapter 8: Cure Emelie

Our daughter Emelie is a true superhero. She has been battling pulmonary hypertension and interstitial lung disease (chILD) since birth.

Emelie was born spontaneously on 05/25/2018. She saw the light of day in just 4 hours. It was a textbook birth. However, it was immediately clear something was wrong. She couldn't cry out and was busy gasping for air from the second 1. Her body was dark blue. The doctors said it was probably just an adjustment disorder which was normal and occurred occasionally. After 3 hours of examination and oxygenation, it was clear that it was not just an adjustment disorder. Since she was born in a small hospital without a neonatal intensive care unit, she was picked up by the emergency baby doctor and taken to the next larger hospital with an intensive care unit.

My husband accompanied her and I did not have to stay one night in the maternity hospital. That same evening she developed a pneumothorax on both sides and stopped breathing completely. She was in the ICU for a total of 7 weeks and during that time she had countless tests. Several genetic tests were initiated because the medical team assumed that she had a muscle disease. All these tests came back negative.

Everyone was at a loss and did not know what it was. After she was stable with continuous oxygen, we decided to take her home after 7 weeks. A monitor for home, all the equipment for feeding tubes and everything for the oxygen supply we got delivered home. Now we had a seriously ill child at home and didn't know why. 1.5 years of uncertainty, countless hospital stays with discussions regarding transplantation or death. Until finally the clarity came as to why. Finally, the big mystery was solved. She has a mutation in the TBX4 gene, which I passed on to her. Emelie has all the classic skeletal signs of it and the pathologically altered lungs.

Now she will soon be 5 years old, 5 years of ups and downs and full of obstacles for her, despite everything she is an outgoing and happy child. We are happy to have found such a great clinic team at the Hannover Medical School. Through this team and the super treatment with all the medications and aids, she can live an "almost" normal life and is far from needing a donor lung at the moment.

We are so grateful for the organization of TBX4Life and the constant efforts to bring medical experts together on a global level to find a cure for TBX4 syndrome.

By Dominik and Nicoline Neff, parents of Emelie

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Story 7: Cure Eve

From the moment I laid eyes on my beautiful baby girl Eve, I knew she was the light of my life. But despite a seemingly normal pregnancy and healthy scans, Eve's birth was fraught with medical interventions that left us uncertain of her future.

Within hours of her birth, Eve underwent numerous medical procedures including ECG's, brain scans, CT scans, X-rays, chest drains, nitric oxide, and a host of drugs and injections. I watched in terror as my tiny baby girl was intubated and put on an oscillator to breathe for her at a rate of 500 small, shallow breaths per minute.

We later discovered that Eve's condition is caused by a rare genetic mutation in the TBX4 gene, which has left her with Interstitial Lung Disease (chILD) and severe Pulmonary Hypertension (PHA). Despite the uphill battle, we face every day, we remain hopeful that research into this genetic mutation will lead to new treatments and a better quality of life for Eve and other children like her.

My heart breaks every day as I watch my little girl struggle to live a normal life, but her strength and resilience are nothing short of miraculous. Despite everything, Eve is a happy, joyful child who lives life to the fullest.

As a mother, I am determined to do everything in my power to ensure that Eve has access to the best medical care possible. We are hoping that new advances in medicine will allow her to live longer and eventually become independent from supplemental oxygen, which currently impacts every aspect of her life.

Please join us in our fight to give Eve and children like her the chance to live full, healthy lives. Your donation to fund research into rare genetic conditions like Eve's could be the key to unlocking a brighter future for our children. Every dollar donated brings us one step closer to finding a cure for TBX4 gene mutation and a brighter future for children with rare genetic conditions. Together, we can make a difference.

Georgie Doherty, Eve's mother

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Story 6: Cure Colton

Meet Colton, a little fighter who has been battling with TBX4 Syndrome since he was born in December 2021. Shortly after his birth, he turned blue for no apparent reason, and he was airlifted to Children's Hospital in Saint Louis where he was diagnosed with a hole in his lungs.

After a week-long stay, Colton was allowed to go home, and everything seemed fine for a while.

Unfortunately, in October 2022, when he was only ten months old, he started having seizures, which were unexplained since he had never experienced them before. After multiple tests and consultations with specialists, the doctors discovered that Colton has pulmonary hypertension caused by the TBX4 gene. Since then, Colton has been in and out of the hospital, struggling with multiple seizures almost every night, and he needs oxygen support 24/7.

Despite his health challenges, Colton remains a happy, loving, and outgoing boy, who never fails to put a smile on the faces of those around him. He has a big brother who loves him dearly, even though Colton sometimes tries to bully him. We are worried sick about Colton’s future, as the doctors are still trying to figure out the source of his seizures and the best treatment plan for him.

We need your help to support research to find a cure for TBX4 Syndrome so that little fighters like Colton can have a chance at a better and longer life. TBX4 Syndrome is a devastating condition that affects many children worldwide, and there is still much to learn about the disease. Medical research is our best hope for finding a cure for this condition and helping children like Colton lead full, healthy lives

Courtney Monroe, Colton's mother

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Story 5: Remember Celina

Our daughter Celina was born two years before Odin, and her pregnancy was perfect. However, after birth, she could not breathe on her own and she was transferred to Children's Hospital in Boston. The doctors ran several tests but they did not find anything special, and Celina seemed stable. To give her body a break, she was put on the ECMO machine, which takes the blood out of the body, puts oxygen into it, and cycles it back in. Unfortunately, ECMO did not improve her condition and Celina suffered due to a lack of oxygen, which led to a brain hemorrhage. She lived and fought for two days before we had to say goodbye to our precious baby girl. We never got to see our beautiful girl’s eyes open. It is hard to believe she would now be 11 years old.

We later found out that Celina had the same TBX4 genetic mutation as her brother, Odin. Fortunately, we donated a sample to the hospital during her autopsy, which allowed them to run the necessary tests. We hope that by sharing our story, we can bring awareness to these rare conditions and encourage more research to find a cure. TBX4Life has gathered an amazing team of medical professionals around the world who are ready and eager to study TBX4. Your donation, no matter how small, will help them do so.

Please help us in our efforts to find better treatments to extend the life of those impacted by this mutation and to find a cure! We can’t save Celina, but hope that her story helps raise awareness about this terrible disease so we can find a cure for her brother and others like him.

Jess Apostoloff and Nick Tarantino, parents of Celina

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Story 4: Cure Odin

Odin is a courageous and inspiring 9-year-old boy. When he was born, Odin cried like any newborn, but his oxygen levels started decreasing, and he had a pneumothorax in one of his lungs. The doctors in Beverly, MA were not prepared to deal with this kind of medical crisis, so Odin was transferred to Boston Children's Hospital. The team of doctors had no idea what they were dealing with because it was so complicated. From X-rays, we found out that Odin's lungs were not fully developed (we later discovered this was due to the TBX4 gene mutation). Unfortunately, it was challenging to determine the severity of his condition because Odin would not survive a lung biopsy.

Odin continued to suffer from many pneumothoraces, which resulted in him having six chest tubes in his lungs. To help give his lungs a break, he was put into a medically induced coma and intubated. For a month, we heard alarm after alarm not knowing what would happen next or if he would make it through. Fortunately, we saw some improvements over time, and when he was taken off the vent. When Odin would eat, he had trouble sucking and swallowing from a bottle and he would stop breathing. After discussing with the doctors, we decided that he needed a G-tube placed, so he could get the nutrients he needed without losing weight.

After spending two months in the NICU, Odin was finally stable enough to come home and we thought he had mostly recovered. He was discharged with the G-tube, which is still in place today. Odin was otherwise a seemingly typical baby and toddler. When he was 20 months old, he was running around the house and suddenly fainted. His lips turned purple, his pulse was weak, and he was pale and non-responsive but screaming. He was rushed to the hospital and given several tests. We discovered that Odin suffers from severe Pulmonary Hypertension (PH) and Interstitial Lung Disease (ILD), caused by TBX4. He was discharged on 2 liters of oxygen, but that wasn’t enough for him to remain stable so it was increased to 3 liters. He is currently on three medications to keep him alive and stable, and he wears oxygen 24 hours a day. Despite his health challenges, Odin does not let this disease stop him. However, the disease is progressing, and we need to raise awareness and encourage more research to find a cure for this rare disease. Please consider donating, no matter how small, to help extend the life and treatment of Odin and those affected by TBX4.

Jess Apostoloff and Nick Tarantino, parents of Odin

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Story 3: Cure Maisy

In May 2020, my daughter Maisy had just celebrated her first birthday, and we were at the park having a normal day of play when suddenly, everything changed. Maisy began to cry weakly, her body became stiff, and her coloring turned blue. It was the scariest moment of our lives, and we had no idea what was happening.

Thankfully, Maisy recovered from the episode after a couple of minutes, but we rushed her to the hospital via ambulance to figure out what was wrong. Initially, the doctors suspected a neurological issue, but after a CT scan revealed nothing, they decided to run some tests on her heart.

I still remember the echocardiogram technician's smile fading as she looked over at the pediatrician on call. We were told that Maisy needed specialized treatment that wasn't available at the hospital, and we had to fly to St. Louis to see a specialist.

The experience was surreal, but Maisy amazed us all with how patient and silly she remained throughout it all. She spent almost two weeks at St. Louis, where her incredible team of doctors figured out the medications she needed, explained everything in detail, and provided us with binders full of instructions, phone numbers, and every resource we needed to navigate our new normal.

With the right medication, Maisy has thrived and learned how to pace herself physically while also discovering her limits. Although we remain extra anxious about her well-being, we are so proud of how well she is doing these days!

Through this experience, we learned that Maisy's PAH was caused by a TBX4 mutation that was passed down to her. We know that there's no cure for TBX4 Syndrome, and the disease is progressing. Better therapies are needed to manage her symptoms and keep her quality of life. As her parents, we are committed to advocating for more research into TBX4 Syndrome and Pulmonary Hypertension. We believe that by raising awareness and supporting research, we can bring new hope to families affected by this condition.

Please consider donating today to support research that will help find better treatments and ultimately a cure for TBX4 Syndrome. Every contribution, no matter the size, will make a difference in the lives of those affected by this rare disease

By Sarah and Dillon Byrd, Parents of Maisy

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Story 2: Cure Kate

Our daughter Kate is a courageous fighter who has been battling pulmonary hypertension and lung disease since she was born. Despite being seemingly healthy at birth, Kate turned blue just eight hours later, and we knew something was wrong. She was rushed to the NICU, where an incredible team of heroes worked tirelessly to save her life. Kate spent six weeks in the NICU before we were able to bring her home, but she still required 24/7 oxygen, a pulse oximeter, and a feeding tube to help her thrive.

As new parents, we were left with countless questions and unexpected challenges. Kate lacked the strength to eat everything she needed to thrive, and ensuring that she was getting proper nutrition was a constant struggle. Our search for answers led us to the Team at Stanford, where our daughter was eventually diagnosed with TBX4 Syndrome. This rare condition caused her pulmonary hypertension and lung disease, and unfortunately, there is no cure.

The diagnosis brought even more uncertainty to our lives. We were told that Kate's condition may stay the same, improve, or worsen. At its worst, a lung transplant or death is a possibility. We're relying on medications to keep the disease under control. We are so thankful for TBX4Life organization and the constant efforts to bring medical experts together on a global level to find a cure for TBX4 Syndrome

We would be grateful for any support you can offer towards this cause - support our fight against TBX4 Syndrome. With your help, we can fund vital research that will bring us closer to finding a cure and give hope to families like ours who are affected by this disease.

Mike and LaRae Hacker, Parents of Kate

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Story1: Cure Daniel

I'm Anton, the father of a brave young boy named Daniel, who has been diagnosed with TBX4 Syndrome, a rare life-threatening genetic disorder. This condition affects his lungs, heart, and skeletal system, making it challenging for him to breathe, walk, and perform routine tasks. This is a disease that advances over time, without a cure available, and may ultimately result in his passing. We don't give up and do all that we can, but we need your help

Our journey with Daniel's illness was physically exhausting and emotionally challenging. Daniel's condition was due to severe Pulmonary Hypertension (increased pressure in arteries in the lungs), and we were told that he was unlikely to improve. The doctors recommended that we begin evaluating him for a lung transplant. We stayed a long period in the hospital with him, taking turns to be with him day and night. The stress and anxiety were overwhelming, and we often found ourselves breaking down in tears.

Our days were spent caring for Daniel, making sure he was comfortable, and keeping a close eye on his condition. The nights were spent researching his disease. We were determined to learn everything we could to help our son. We sought out the best medical care possible, and we were fortunate that the medication Daniel was given worked better than expected.

Our family has been devastated by Daniel's diagnosis. The genetic test showed that Daniel's disease is due to a mutation in the TBX4 gene (TBX4 Syndrome) and that he is impacted not only by Pulmonary Hypertension (PH) but also by lung tissue anomalies - Interstitial Lung Disease. We love our son dearly and are committed to ensuring that he lives a long and healthy life. Sadly, there is currently NO CURE for TBX4 Syndrome. The treatment options which helped him are limited, and the disease is progressing. We were told that the disorder would continue to slowly make his lungs worse every day and that it could, at any point, again start affecting his heart. His illness is like a ticking time bomb that could end his life if things don’t change. That's why we need your help.

We've established TBX4Life, a non-profit organization dedicated to supporting families affected by TBX4 Syndrome and funding research for a cure. We believe that every child and adult with this condition deserves a chance at a better life. Your donation, regardless of size, could make a significant impact on the lives of those affected by this disease.

By donating to our campaign, you'll be helping to fund groundbreaking research that could change the lives of people affected by this disease. Your contribution could make a real difference in the lives of families like ours, who are struggling to cope with the challenges of TBX4 Syndrome.

By Anton Morkin and Tatiana Morkina, Parents of Daniel

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