At my 20th week of pregnancy, the nurse conducting the ultrasound noticed an anomaly in the fetus. My gynecologist recommended in-depth 4D scans to try to assess if there were any other indications of more serious problems. The syndrome was not diagnosed in utero. Doctors didn’t want to take any chances, and a C-section was planned. I cannot begin to tell you how profoundly overwhelmed I felt at the extent of the medical staff that needed to be present at the time of my son’s birth — and how incredibly fortunate we were that the team was in place. My son Henry was diagnosed with prune belly syndrome (also known as Eagle-Barrett syndrome) the minute he was born, and soon after, chronic kidney disease. I become an expert in something I had no idea even existed. I remember lying there, post-C-section, aching to hold my son, with my husband at my bedside explaining that our son had prune belly syndrome. I lay there trying to comprehend it all, still doozy from the anesthetic and the tears rolled down my face as he proceeded to tell me that our son was in the neonatal pediatric intensive care unit (NPICU). I felt paralyzed with fear of the unknown, and little could I believe just how serious it was, because, let’s face it: no matter how many facts you have, you never think it could possibly be happening to you. Prune belly syndrome (PBS) affects approximately one in 30,000 to 40,000 births. It is characterized by a lack of, or no, abdominal muscle, undescended testicles and urinary tract problems — each child presents the syndrome in varying degrees and complications. The name of the syndrome arose because of the mass of wrinkled skin that is often (but not always) present on the abdomen. Henry spent the first six weeks of his life in the NPICU undergoing tests and scans, while the doctors worked tirelessly to find the right combination of treatments to help his body cope with the lack of function of his kidneys. Because of the deficiency of abdominal muscle, organs in the abdominal area are lax or undeveloped — his ureter was also long and distended, one kidney was not functioning and the other had little function. I visited him in the hospital three times a day, and during some of those visits doctors told us they were unsure of his survival. We were even referred to a bereavement therapist to prepare us for that which I can’t even write. At 7 months old, Henry was admitted to the hospital again. What started as a sore throat ended up as several other infections that were dangerous for him. I try not to worry about every sneeze, but it’s difficult not to be concerned and overly cautious of keeping him out of situations where he can potentially get sick. He has since had several surgeries, some with complications that were life-threatening. He has had one kidney removed and his ureter tied and placed to the outside of his tummy, making it difficult to keep him dry. Diapers that absorb fluid from the abdominal area do not exist, and urine bags are not used on small children. Currently, Henry is stable with medications, treatment and regular visits to the hospital for blood tests. The biggest, most immediate problem that needs attention is his kidney disease. Medications and diet play a huge role in his well-being, but as he grows and develops, his body will no longer be able to cope with the little function that his one kidney has. His diet is a struggle — kidney disease patients may have a poor appetite, but it is just as important for them to eat a proper diet — and with a picky toddler, that’s a feat. Since his disease is silent, or invisible, his health is monitored mostly through blood tests. And when values started to increase last November, his doctor informed us that we needed to start taking action towards his eventual transplant. We will be visiting Great Ormond Street Hospital for the planning and preparation. We have appointments with specialized teams of surgeons, doctors, nurses and therapists who will be preparing us for his eventual transplant. Prior to his transplant, he must also undergo surgery for a bladder reconstruction, rectifying the urinary system before getting a new kidney. During this upcoming trip to London, my husband will also be undergoing tests as a potential donor. Until I was diagnosed with breast cancer I wanted nothing more than to be a potential kidney donor myself for my son, but cancer made that choice for me, and donating is not an option anymore. We are now starting the next part of this journey. Very difficult situations are coming our way, but we have been through a lot and he has thrived and fought with his fierce will. When you meet Henry, his infectious smile and bubbly character will give you no indication of him being any different from any other little boy — but he is one little and mighty kid suffering from a rare disease no one had any control over. Although I am terrified and sometimes wonder if being prepared is a good thing, I will take things one day at a time. My advice to other parents of children with rare diseases is to listen to doctors but also trust your instincts. If you think something is wrong, ask and investigate continuously. Keep an organized track of documents and record as much as you can. Be in the best spirits you can be around your child — they need to feel as safe and protected as possible, especially when they have so much to deal with. If the child is curious and wants to know, educate them, even from a young age. It’s something they need to live with, accept and not fear. Henry Follow this journey on A Bird With a French Fry. 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