Tag Archives: LPHS

Caretakers -Parents Perspective Living with Life in Pain

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

Update to my story (Craig)

Well I wish I had better news. Unfortunately, I have now been diagnosed with LPHS of my native right kidney (Native because both my kidneys are on my right side because of an earlier autotransplant). I started showing symptoms about a year ago and they progressively got worse. I am now at the point that I am no longer able to live a “normal” life. Normal in the sense that I consider normal; pain everyday but manageable. I am no longer working due to the pain and I am having a very hard time trying to cope. The pain has not been very easy to control, when it is controlable. For the past 8 months, I have been not able to do much. I rarely feel up to doing anything because it excites the pain so much. My doctor’s are at a loss. I am still seeing my pain management doctor, who by the way has gone out of his way to help. He feels that if he keeps me stress free (Yeah Right! In these times) and calm the pain is more manageable. It is but I get these extreme pain attacks that just put me in a complete funk. I now see a nephrologist. Due to the years with LPHS and the treatments, I have been diagnosed with chronic kidney disease. It is only level 1 however if you look at my GFR, my right transplant is doing much better than my native right kidney. Now it is something else to keep an eye on. I have been put on blood pressure medicine to try to prolong the stages of CKD. Even though things are rough, I still try to maintain a positive attitude. Its hard but I know that in the end things will be fine because I will do everything I can to ensure my quality of life.

21 Years with LPHS (Aug 20, 2008)

30 Years

I was 18 years old the 1st time I actually have blood in the my urine, my pain started 14 years old. It took me 30 years and several surgeries to get to a diagnosis. My surgeries included several d&c, a tubul (which really helped the pain) an partial hysterectomy, gall bladder removal, gastric bypass (RNY) 5 hernias, 1 adherions, complete hysterectomy, which one kidney had grown to abdominal wall. The last one was when I was sent a kidney doctor and diagnosed with LPHS in 2008. I live in Oregon, USA. Your GP controls all pain meds. In the 1st time in years I have a Kidney Specialist, Dr. Hecox and a GP, Dr. Hamann. I’m on a cocktail of meds. but it’s the 1st time I’ve felt I have a little control over my health. I have good days and Bad days mostly were I do anything physical or ride in a car. I don’t use pain meds, only if I can’t control the pain. I take AZO URINAL PAIN PILLS a lot it helps, Advil 3 tabs at a time. If you use pain meds to much you will run out options. The best medicine is prayers. STAY STRONG

H1N1, Mono then LPHS; one heck of a year!

My name is Amanda-Lynn. I’m a Canadian teenager. There’s nothing to special about me. I’ve pretty normal and live a typical, calm, quite type of life. And the past year has completely changed the way I look at things.

In 2009, I was diagnosed with H1N1, it was a though recovery and a scary bout. I didn’t think I’d make it through. Then I contracted mono at the beginning of 2010, whether or not I actually had mono I’m no longer sure. I found out I had a larger than normal seist on my ovary during an ultrasound checking my spleen after the mono. Two weeks after my recovery from mono I started the symptoms of LPHS which began in April I noticed some gross hemeturia. Two days later I was diagnosed with a UTI at the ER. I didn’t even have an infection, just blood.

A few days later the pain began! It started in my right kidney. The amount of the pain varied but over time it was generally an 8/10.

It was very hard to fall asleep. If I managed to fall asleep I would often wake up then it was very difficult to fall back asleep. It was impossible to sleep through the night. The mornings seemed to be the worst for the pain. Every morning is a battle to get out of bed because of the excruciating amount of pain.

I kept going to the ER almost every second day because the pain just kept getting worse. The pain is sharp, stabbing and throbbing. The doctors kept fluffing me off thinking it was all in her head or wasn’t a big deal. They told me to simply take Tylenol and sleep it off. Tylenol didn’t help the pain at all… Not even Tylenol 3’s.

One doctor was nice enough to send a referral to a local pediatrician. She believed it was definitely something with the kidneys. Since I’m still considered a child I needed to be seen by a pediatrician before a kidney specialist (who only sees adults).

It was difficult to decipher if it was a secondary symptom to the mono (auto-immune diseases) or something new. I had many tests done. Blood test, urine tests, catscans, and ultrasounds just about anything you could think of; everything coming back normal…
In May the left kidney started to hurt also but not as bad as the right. I got a cystoscopy and a retrograde procedure done. Like every other test this one also proved to be normal.
At this point I started suffering from chronic muscle spasms and daily headaches. I often have swollen thighs and a swollen back. I’m weak and I faint often… I fall to the ground for no reason and I see stars all the time.

In mid May I was admitted at the local hospital. Then I was transferred to a children hospital in Ottawa. I almost needed blood transfusions. I was hospitalized for 21 days. They diagnosed me with Loin Pain Hematuria Syndrome there.

It took many tests ordered by many different types of doctors; Urologist, nephrologists, gynecologists etc. Everything came back normal. So they diagnosed me based on my symptoms and elimination.

They set me up with a pain management program and sent me home once the pain was controlled at 8/10.

A few weeks ago I had an MRI that showed on overlapping of my kidneys in both sides that may be the cause of the pain.

This week I went back to CHEO and had a nerve block procedure that took the pain away for a good two days. Now it’s coming back but it’s only 2/10 so I’m still content. I’m hoping on having it has a weekly procedure.

So at 17 years old, I’ve been through a heck of a lot! Pain definitely isn’t easy to live with. It’s debilitating and sometimes paralyzing. I have had to completely change my life. But I haven’t lost hope! I know that one day a cure will be found. For now I must learn to live with it. Help others has others have helped me. Stay positive and smiling. I have good positive support. I hope my story may lighten your load. Knowing that you’re not alone is always quite a relief. I wouldn’t wish this kind of life changing condition on anyone!

LPHS – Entering My 18th Year. Will This Ever End?…

Hi, my name is Robyn but my friends call me Cutsnake. They started calling me that when I was a teenager as I was ‘mad as a cut snake’… However, things have changed alot since those crazy days.

When I was around 20 I was diagnosed with LPHS after having spent the previous 6 months trying to find a Urologist or Neurologist who could tell me what on earth was going on with me. I was passing huge amounts of blood in my urine (which was so full of blood that it looked like red wine), and in so much pain that all I did was roll around the bed crying and calling out in pain.

FINALLY, I found a neurologist who diagnosed me, and although he advised me that it was unknown at that time as to what actually causes LPHS, he did tell me that there had been some data which indicated that a reasonably high percentage of the very few people worldwide who have this disease, had at some time during their childhood been on various types of antibiotics (IV) whilst being in hospital. Sure enough, this jived with my history….

When I was 6 yrs of age, I was burnt in a fire and spent 4 months or thereabouts in hospital, having a particular antibiotic running through my drip. This antibiotic has now been shown to cause kidney and liver problems in children, years later, and is therefore no longer recommended for use in children (and when used in adults, only if regular blood tests are undertaken to test for toxicity – particularly given the antibiotic itself can cause kidney and liver failure). The antibiotic I speak of is called Gentamicin.

Anyway, the crux of the matter is that I have now been living with LPHS for coming up 18 years. My life (or existence)is pretty miserable. The pain itself is the debilitating part of the whole thing. Of course I’ve been on huge amounts of opiates for the duration, and I guess I am now what you’d call an addict. No, I’d be really really crook if I were to stop taking my painkillers abruptly, but they no longer narcotize me (I don’t go on the nod or anything like that) – but rather, just help to control the pain.

LPHS has destroyed my life in a lot of ways, although probably because I let it do so. It is very easy to become depressed when you have a chronic illness or pain problem. Although my GP and kidney specialists all tried to get me to deal with my depression, I didn’t do anything about it myself until I was just about ready to ‘end it all’.

Obviously, my partner of 15 odd years got sick of seeing me in pain all of the time, and got sick of never being able to just go and have a night out without having to worry about whether I’d be too sick on the night to be able to go, and so he just ended up packing his bags and leaving me with our daughter who was only 6 at the time. She’s 9 now, and the light of my life. Without her, I don’t know what I would have done.

But, by him walking out, it forced me to have to deal with my depression, because I knew if I didn’t, I’d be consumed by it and then there would be nobody to really take care of my daughter.

I guess I’ll now be on antidepressants for the rest of my life, and although that doesn’t sit well with me, I guess its better than the alternative.

We are learning that although I’m in pain and really unwell most of the time, that we can do it, and we can be happy while we are. If I hadn’t had my daughter that I had to care for, I think I’d have just given up and spent ALL of my time in bed or on the couch, rather than just the significant amount of time that I was.

No, I’d love to be free of LPHS, but I’m guessing that’s just a fantasy and I’ll just have to live with it for the rest of my life. Yes, I am sick of being sick all of the time, but what else am I going to do? It’s pretty much out of my hands.

What I can say though is that despite how scary it all was at the beginning, once you actually come to terms with whats going on with your body, and you learn to work your life around your disease, you can cope, you can thrive. The trick is NOT LETTING YOUR DISEASE BECOME THE FOCUS OF YOUR LIFE. If somebody had told me 5 years ago that in a handful of years my lifelong partner would have hit the road and left me with a young daughter to care for all on my own, whilst I was in extreme bad health, I’d have laughed in their face. Well, now I’m doing it, and despite it all, I’m doing okay.

My neurologist and pain specialist are looking at putting an intrathecal morphine pump into me within the next 12 months, and I’ve got to admit, that although I’m really scared about having the surgery (and about something going wrong whilst I’m on the table), I’m actually looking forward to it because they tell me that it will significantly reduce the amount of morphine that I’m having to take because the morphine will be going straight to the site that is causing the pain (the nerves around the kidney), and that I will be receiving the best possible control of the pain. The only drawback is that I’ll have to keep going back to the hospital and getting the reservoir filled up with more morphine every couple of months. I guess that’s a pretty small drawback in the grand scheme of things.

All I can say is that I hope the rest of you people out there in cyberspace who are going through the dramas of living with LPHS or worse still, trying to find a doctor who can diagnose you if LPHS is your problem, that you actually find a doctor who if they don’t know whats going on with you, send you to somebody who can sort you out and get you onto a regime or program that can help. Although I’ve got great specialists on my ‘team’ now, I had to see a whole lot of quacks before I found them.

I hope your not having a really bad day with your pain….believe it or not, today is probably the best I’ve been in the past 3 months. Anyway, I’ll sign off. I hope this ‘my story’ has helped somebody out there who is going through this.

By the way, if you want to reply to my email, feel free. My email address is Cutsnake001@gmail.com.

Catch you later.

Cutsnake

Searching for Life (And Stories) Beyond LPHS

After six years of near constant kidney stones – at least that’s what everyone thought – my doctor diagnosed me with LPHS. During this time I have lost numerous jobs, my house, wife, etc. You know the old country song. I recently moved back in with my parents, which has been a hit to the ol’ ego certainly…but has done me a lot of good as well. Not having to suffer through a day at the office, but focus on other aspects of life has been good for me. Of course, it would be great if the pain would go away! Knowing that isn’t going to happen, I’ve been on a search for ways to add meaning to my life. One idea I had was to put together a book written by chronic pain patients for chronic pain patients….

I’m looking for stories that are inspirational – that show the world that even though we may not be able to live and love the way they can, we can still get something out of life. If you feel like telling me your story or already have it written, please send it to me at drew_bufalini@yahoo.com. When I have enough stories, I’ll compile them into an ebook and post it on a website for download.
Thanks!

3 Years with LPHS and now pregnant

My name is Katie and I have been dealing with LPHS for 3 years now. I have been to several large hospitals in the central Pennsylvania area where most doctors seem sympathetic at first and then dismiss me after they realize they have no answers. I don’t understand why none of them ever research it or look into doing treatment options even if they never have before. Most of these hospitals are teaching hospitals and you would think they would grab onto a new disease to research, but apparently not.

I am now 10 weeks pregnant and the pain has been increasingly worse sine I’ve been pregnant. But now doctors are even more reluctant to prescribe me medications for pain and even when they do it is a lower dose or less pills. I want nothing more than a healthy baby and don’t want to risk hurting it with meds but at the same time I can’t function in this much pain! I have to take days off of work just to sit on the couch which doesn’t even help all the time. I’m still in severe pain when I stay still or sleep anymore!

Has anyone else gone through pregnancy with this syndrome before? And what were your experiences if so? I am literally dying to find someone to help me and am at the end of my patience trying to figure this out. Please post or email me if you have any advice. Thanks and good luck to all who have this nightmare!

Katie