Several years ago our daughter Sarah began to consistently complain of stomach pain which radiated to her back. Doctors were unable to diagnose it, and eventually dismissed her pain as a teenager’s attempt to get attention from her parents.
Sarah went to several doctors before we found Dr. Henry Rosas. After one careful examination, he found that she had several symptoms that indicated her gallbladder was not working. This confirmed the results of a Hida Scan that had been administered following an emergency appendectomy during Easter a year prior. The scan showed not only that Sarah’s gallbladder was not working but also what looked like a large mass of what might be cancer. When our daughter was taken in for surgery, Dr. Rosas noticed the previous doctor had not sealed an area of her appendix. This had compressed several inches of her small intestines into a large ball. He decompressed the tissue and reattached what should have been done a year prior.
Sarah was fine for a few short months, but gradually her pain began to increase and her blood test showed that she may have an immune deficiency. Dr. Rosas requested for Johns Hopkins to see her, but approval for the appointment was denied by the head of the Autoimmune Disorder/Deficiency Department.. He felt that there was not enough evidence in Sarah’s medical records to warrant an appointment with their world renowned doctor.
Unfortunately, Dr. Rosas died from cancer. Sarah was referred to a female doctor at GBMC, but we were met again with questioning looks and an overall lack of information about the cause of her health issues. She was in an out of the ER so many times, each time with the same pain near her kidney, and yet none of her doctors referred her to a nephrologist. As parents, we were fed up. It made sense to me to send her to a nephrologist, and if her physicians were not going to recommend someone, then I would find one myself.
Our prayers were answered when God sent Dr. Marc Brazie to our rescue. Dr. Brazie was dedicated to Sarah and took the time to understand her, support her and most importantly believe in her. He did his own research, own blood work, own scans, kidney biopsies etc. After examining Sarah’s myriad of symptoms–hematuria in her urine and renal tubes, stabbing pain in both kidneys (she described it “as if many snowflakes were poking around”) passing two kidney stones, and a double biopsy, he diagnosed her with LPHS – Loin Pain Hematuria Syndrome. We were happy for a short while just to know what we had, but the rarity of the disease was overwhelming.
I contacted the Rare Orphans Disease Foundation in Bethesda only to be told there was no research, no funding and no interest in LPHS because there were less than 1,000 patients with this disease. After countless calls, we pleaded with our friends to find a doctor that would be able to lend a hand. Finally, our friend Ellen Potapane told us how their physician, Dr. Kevin Ferentz, had helped her husband, Frank, when he had been diagnosed with a rare form of cancer. At the time of diagnosis, Frank Potapane was a neighbor and good friend of ours. We had joined forces with them during their health crisis and Frank had survived; we were grateful that now they were referring Dr. Ferentz to us in our time of need.
Dr. Ferentz is currently one of the heads of the Department of Family Medicine at the University of Maryland, and has been part of our family now since the beginning of our daughter’s diagnosis. He cares about the individual patient, believes in them and works with the whole family. For the past several years, his team of doctors and students have been learning about this rare disease, and I am thankful that God sent him to us.
Unfortunately, not all students are as eager to research LPHS. Some take the time to learn, while others question the disease because of the lack of information available. While Dr. Ferentz has been amazing through his efforts educating medical students, the bottom line is that students have to be willing to take the time to learn or no progress in LPHS research will be made.
In my mind, a lack of interest is a major problem affecting medicine today. Students and doctors need to take the time to learn and support their patients with sincerity. They need to be less worried about their own credibility and more supportive of their patients themselves. Dr. Kevin Ferentz and Dr. David Stewart are two doctors that truly support their patients. Our hope is that the others will learn by their example.
As happy as we were to finally have caring physicians, Sarah’s medical problems weren’t solved. As a Mom, “no answers” is not a phrase in my vocabulary. “Can’t” doesn’t exist and neither does “there is nothing more we can do”. So instead of sitting around doing nothing, our family held a fundraiser at the Engineers Club in Baltimore. We were fortunate to have many supportive business associates, friends and family to help raise money for the Dept. of Family Medicine – Community Medicine at the University of Maryland. Our hope was that this funding would help the department to fund LPHS research, which in turn would help our daughter. At the time, there was no LPHS research being conducted at the University of Maryland at all.
In the meantime, Sarah was still in and out of the hospital. She had started seeing a pain therapist, Claudia Cameron, an amazing woman that is always there for Sarah. Claudia helped Sarah through her crisis and supported her in spite of some individuals that didn’t believe in her because of the lack of information about LPHS. Through her wonderful support and friendship, Claudia has helped our entire family adjust to Sarah’s illness. Through networking, I also had the good fortune to meet Bella Folksman, an acupuncturist in Owings Mills Maryland who has also been a major part in Sarah’s pain management. Sarah tries to see her once a week…unless she is in the hospital. From a parental perspective, Bella is a hands-on therapist that treats Sarah with an attitude of true sincerity and caring.
We finally did get into Johns Hopkins, and their nephrologist, Dr. Michael Choi, reaffirmed Sarah’s diagnosis. Dr. Choi also said he believed there maybe another underlying illness. While we were at John’s Hopkins, Dr. Choi spent 3 hours with us talking with Sarah. He wrote everything down specifically and in detail. That effort meant so much to us! He even had someone send us a video of a doctor in Montgomery County that is specializing in a program to treat patients with rare diseases that affect 200,000 people or less. Though Sarah did not get into this program, we hope that the National Instituted of Health (NIH) will have other programs and research that correlate with Sarah’s illness and may find a cure.
We are fortunate that we have a great team of several doctors and therapists that look out for Sarah; Dr. Ferentz, Dr. Brazie, Dr. Claudia Cameron, Bella Folksman, Dr. Bruce Greenwald her GI doctor and Dr. Diane Orlinsky her dermatologist. But though they are very heart-centered and caring doctors, they still don’t have the cure for her illness. We have tried everything we can think of to help Sarah: alternative medicine, contacting friends such as Adele Linsalata, Tracey Hutchins, Shari Sternberger, Kyle Brooks, Tina York – Chaplain, prayers from every denomination you can imagine all in the hopes of helping Sarah and others like her to find a cure or help her manage her pain so she can have a life.
As a parent, the most difficult area is watching your child in pain and finding that there is no cure. As parents, we have been told we are here to protect, reassure and take care of our children. To keep them from all pain, surround them with love and help them to grow into adults. To find their dreams, help them turn those dreams into reality and see it all blossom before our eyes. Though we have seen Sarah try on several occasions to fulfill her own dream of becoming a nurse, thus far it has been diminished. For a time, she was attending Medix School, located in Towson, but they had to take away her admission because of her illness. We are told we still have to pay for her admission even though she is no longer there. The school’s hope is that she will return to classes when she is able. In my heart, Sarah’s ordeal will make her very valuable nurse for any doctor, hospital and patient. She has seen good, bad and horrible nurses, doctors and staff. She has held it together and dealt with illness in a mature fashion by learning grow in her situation.
Sarah tries to understand her illness from both sides of the spectrum, which is something I am not sure many patients have done. I think some of the doctors and nurses that see her appreciate her efforts, though as a parent I will say that sometimes it is very difficult to watch. There are several quotes I share with Sarah: “Never take No for an answer”, “Live Life with a Purpose” “You can reach your dreams” “We are all here for a reason and your journey is going to help you and so many others” Sometimes she can listen and believe in these quotes too, but other times, I can tell that she is so angry because her disease is holding her back from whatever she wants to do in life. As parents, it’s difficult to see others (neighbors, friends, family, business associates) with children around the same age as our daughter. It is hard to celebrate with them on their momentous occasions; graduation, weddings, births and so much more.
I will not lie and say there have not been tears. There have been tears, screaming, anger and more…but then we try to regroup and understand that there are times that are amazing, even if they are just a few hours here and there when we can be an average normal family.
As parents, our job is to keep HOPE alive, as difficult as it can be, and to continue trying to always find one silver lining that can give hope to our daughter and all those suffering with this very painful disease.
My own hope is that by putting this book together, someone out there that will use it as a resource. Someone will gain a greater understanding about rare diseases and understand that those suffering from them are patients, not numbers. I hope that people will see that there are people with feelings; caring doctors and researchers who are not looking for the almighty dollar but who look at these patients and believe they may have the answer to help! And that patients around the world can have the support of family, friends and the medical system to care enough to help them and so many other patients that suffer with rare diseases affecting 1,000 people or less. That people will take the time to CARE! That the families of patients dealing with rare diseases will be helped, because these diseases affect the entire family — the aunts, uncles, cousins, everyone! If you allow it, disease can tear the family apart. But, if you hold steadfast and are hopeful and loving to the patient, (in our case, our daughter) a bond can be formed that cannot be broken. And that is what family is all about—UNITY!
It is with my heartfelt gratitude that I thank you for helping. Thank you for reading this book and supporting those with LPHS – Loin Pain Hematuria Syndrome. Please join with us in trying to find a cure, start research, and help so many patients and their families in need with this rare and life-altering disease/syndrome/affliction.
Thank you from the bottom of our MANY HEARTS!
Tammy, Jeff, Sarah, Josh and Zach – Maryland
