What Life is like with Hemi-Hypertrophy – Trish Ward

“This is Trish’s lived experience of living with PROS and as we are all affected differently each persons’ journey is unique to them.”

I have Hemi-Hypertrophy with Multiple Lipomatosis (HHML), which is specifically one of several rare overgrowth conditions caused by a genetic mutation called PIK3Ca, or PROS. What that means for me is that I have always had one leg bigger than the other-and in that leg, I have had multiple tumors that impeded my mobility and required surgery. NO ONE is currently studying  this. No one. I’ve checked throughout the last two decades. The closest I can find is a study in Scotland going on right now looking at manipulation of the pathways of the affected gene. I’ve always had to do my own research and look for new information on my own initiative. I stumbled across the medical trial I joined purely by coincidence! No one follows me. No one ever has. There are no specialists, nor any special type of physician that can legitimately claim to “treat” this.

This is the year of the Dragon (2024) and according to the Chinese, I have come full circle in my life. The last time there was  a year of the Wood Dragon was 1964, when I was born. Turning 60 is a momentous thing in the Chinese culture. I do hope my experiences are beneficial to anyone trying to picture what life into adulthood may look like for someone with this condition, but I caution that I will be honest, (and probably subjective, despite my efforts to remain neutral). I certainly wish I would have had access to someone who has lived with this when I was growing up. There were many, many unanswered questions throughout my life about my “condition”, (there still is) and no one to ask. I was in my 40’s the first time I ever connected with another human being with this disorder.

I was 3 when I had my first surgery to debulk my big toe on my right foot. By the time I was 18 I had had around thirteen surgeries to remove lipomatous tumors and bone spurs in my toe, foot, ankle and calf. Between the ages of 30 and 50 I had another half dozen surgeries reconstructing my foot- including amputating my big toe and fusing the joint with pins in the center of my foot to restrict movement. When I turned 50, I started to notice my thigh was growing and over the next decade it continued to increase in size, (likely triggered by menopause). My spine eventually became effected, leading to degenerative disc disorder, scoliosis and arthritis of the low back. My entire life,  I’ve sought surgical options as well as research opportunities for anything related to my disorder. I have utilized every noninvasive technique for pain relief: Massage, chiropractic, acupuncture, acupressure, tens units, topical and edible medicines, physical therapy, diet and exercise- everything I can think of -and all at my own out-of-pocket expense, because insurance doesn’t cover wholistic medicine or PT long term.

After much debate and speculation in my youth, I was finally diagnosed with “Hemihypertrophy” when I was in my 30’s. Not a condition you can test for, (like Diabetes), and really just a broad description used medically for a myriad of overgrowth conditions present at birth that they know nothing about. “Isolated Hemihypertrophy”, I’ve come to learn, means they can’t connect it to a genetic disorder. This doesn’t mean it isn’t caused by gene mutation, just that the test was negative for the “known” genetic conditions. Research had started looking into this as a genetic mutation over 20 years ago. By the early 2000’s they could test tissue for the specific gene responsible-which had been discovered through cancer research. That’s when I had a tissue sample tested through the NIH and received my diagnosis.

Much of my early life I was misdiagnosed, (Whatever it was assumed to be before- that doesn’t really matter now). Now, the known PIK3Ca disorders can be found if you Google it. CLOVES Syndrome, KTS, MCAP or (M-CM), and CLAPO Syndrome are just a few. When geneticists run test, these are some of the syndromes they are looking for. I was always treated by medical professionals as a rare and isolated case. Despite multiple surgeries during childhood/adolescence for tumor and bone overgrowth removal, I adjusted physically and required little accommodation. My childhood was normal and very physically active. I never felt limited or handicapped, unless I was recovering from a surgical procedure. I healed quickly. I bounced back every time like a trouper.

I’d like ALL you parents to know that there’s a lot of physical and emotional trauma that comes from being a child going through surgeries that you can’t see on the outside.  Kids instinctually want to please adults. They fake feeling ok a lot because they don’t want to be the cause of their parent’s sadness and worry.  At the time, I was commended for my “bravery” (like I had a choice)…when often, I felt like a strange ameba on a slide, being dissected.  The result de-humanized me somewhat. At the same time, it gave me positive attention by eliciting sympathy from strangers, (not a healthy way to learn to seek attention). It was confusing and very difficult to process fully. I can only begin to discuss the psychological ramifications of having this. It gets complicated, especially when considering the self-esteem issues we go through by having a recognizably, different sized limb.

With this particular condition, (as I have learned through experience and talking to others with it), parents are almost always told that it’s a pediatric condition. That once the child stops growing, everything will be ok after that. Pediatricians have heard of this, but never see it. They think they know enough to tell you that specialists will likely have to get involved early on and growth monitored very closely. Some will recommend orthopedic surgical intervention as a viable option in adolescence if the limb length discrepancy is too pronounced- but overall nothing too alarming or concerning…Just regular monitoring, maybe orthotics or specialized shoes… and then that’s it…No prognosis. No treatment options. They will speak in absolutes when discussing protocol for monitoring things like blood tests, ultrasounds, MRIs, etc., (misleading you into thinking they know what they are looking for) even then it’s often inconsistent from “specialist” to “specialist” what tests will be deemed necessary, how often or what numbers and measurements are the criteria for which specific disorder… Most will say they’ve never seen any patients with this before, but very few will admit that they are in fact clueless. They all act like they know enough to send you to another “specialist”, but none will admit that no one specializes in “it”. You’ll undoubtedly see a geneticist, who will explain on a molecular level what went wrong with the growth gene responsible for your condition, but they won’t refer you to anyone who “treats” it. You’ll be told to see an orthopedic surgeon if the leg/arm discrepancy is beyond normal. Methods to “stunt” bone growth and even amputation are considered as reasonable, viable options, should the growth become concerning.   This is how medical professionals have “handled” us old timers and are continuing to “handle” new diagnoses today. All of us that I’ve met were told this. All of us have continued to have problems in adulthood. All of us have been left hanging and fending for ourselves by the medical community. To say they are disinterested is an understatement. I have been subjected to horrific medical care over the years, and so have others with this disorder.

Just trust me when I say any/all surgery is traumatizing to a child/young person. If you haven’t experienced it, you cannot relate. Imagine, you are too young to really understand everything that’s happening to your body. Surgery is very painful, even with drugs. Recovery is also painful. There’s no control over your own body, people are rough, callus or indifferent to you when you are at your most vulnerable. You do not feel human. You feel like a slab of meat that is being cut into, I am not exaggerating. Every time it happened to me, part of my humanity was cut away as well. Scars and nerve damage are mild repercussions compared to the psychological terror of having no control over your own body. I have full on panic attacks before surgery now. It’s gotten to that point. I have to be fully sedated just to have an MRI. My terror associated with medical procedures is irrational, I’m completely aware of it, but there’s nothing I can do anymore to stop it. After all these years and  close to 20 surgeries, you’d think it would be a piece of cake for me. The reality is it gets worse every time. The stress, the anxiety, the anticipation of pain to come… it only gets harder. It’s not just the surgery either. It’s the frustration of dealing with a medical community that honestly doesn’t care, and the insurance industry that only wants to make a profit. The following is my most recent encounter with the medical profession. This is a classic example of the kind of experience you can expect if you’re dealing with this disorder as an adult.

Today was my 3^rd time seeing Dr. J, a surgical oncologist whose sensitivity and tactfulness impressed me the first visit when he put his hand around my shoulder as I was exiting his exam room and stated, “I’m so sorry this is happening to you”. That was the first time in over 50 years of dealing with doctors when any professional said anything remotely kind to me. I thought, it must be because he’s an oncologist. They deal with cancer patients, so they probably have a better bedside manner than the orthopedic doctors I’ve dealt with in the past. He said he thought it would be an easy procedure, the mass seemed solid enough to remove in one scoop, outpatient procedure, easy-peasy. No long recovery, back to normal in no time.

Before I could follow up with the surgery two things happened: One was COVID, followed by an opportunity to join a research study for Vijoice/ Alpelisib. I was extremely optimistic that the drug was available, (and all expenses covered) and thrilled that I was one of only a few adult participants allowed into the study. I had retired from teaching early and lost my great health insurance, so this was a dream come true for me. It was the most comprehensive diagnostic experience I had ever been through. All the services were coordinated for me, streamlined for patient ease. Everyone I dealt with was attentive, compassionate and extremely thorough. I wish all my medical encounters could be so impressive! Unfortunately, the Alpelisib trial did not shrink the lipoma tumors in my foot, ankle, calf or thigh. I took it for a year, and for me the side effects were really bad; extreme diarrhea, weight loss, severe fatigue and hair loss. I honestly feel, it would have been worth it all if only the drug shrunk my tumors, but it didn’t. I also had to let my GP go at this time because he was so detached and incompetent in coordinating any testing or communication with the research team. It was awful. He made no effort to educate himself about my condition over the entire 5 years I was his patient, even though I gave him literature and tried to discuss it with him…

Back to Dr. J on my second visit, six years later. I decided to travel the 2 hour drive each way back to Dr. J because finding a surgeon that I trusted was hard and he had sounded so optimistic. Even though I had moved, my best friend lived close to the hospital and I knew I could stay at her place for the surgery and follow up visits. So, I went back for a second consultation in the spring of this year. He said he recalled my case, (but I wasn’t convinced that was true). He seemed to know nothing about Hemi, or my genetic condition,  so I shared with him all about my trial with the medication and told him I had had 3 separate, full-body MRI images at the hospital for the research in 2022-2023. The last image was in the fall of 2023 and now It was the spring of 2024. Dr. J said he had to have an MRI less than a year old in order to proceed. Despite my study images being less than a year old, he gave me a prescription for a new MRI. I explained I would need sedation and that my last few MRIs were very problematic, he still insisted I get a new one…

Ok, so I had him send an MRI order to the hospital near me. I was annoyed and suspected this was going to cost me out of pocket, but I had waited 6 years to meet with this guy again and was anxious to get some resolution for my increasing back pain… I wait 3 weeks for radiology to call me for an appointment. They scheduled it for the following month. 3 more weeks later, I go to my appointment and they tell me they don’t do sedated MRI’s at that facility. Apparently, Dr. J forgot to mention in writing on the order that I required sedation…Appointment cancelled. I contact Dr. J’s office. They mail me a new prescription which I hand deliver to the hospital radiology department this time. Another month goes by before they call me to schedule, and I get an appointment for the following month. It’s now July. I arrive for my sedated MRI only to be delayed by 6 hours because another patient with my exact same name and a birthdate one month off from mine, is overriding their computer information system. She has a mechanical apparatus implanted in her spine. They can’t proceed with the imaging until it’s proven I’m not her. They can’t bring up my records.  MRI refuses to do the imaging until I have an X-Ray to prove I don’t have the apparatus in my spine. It was a circus. I had the X-ray, I finally got that straightened out, I got sedated and had the MRI. In mid-August I get a notification of new test result available in my online medical chart. The MRI results were in and, although I can’t access the images, I read the report that says the mass is more or less unchanged as the prior reports had stated…

Meanwhile, I had requested my medical research records from the Alpelisib trial, including the full-body MRI images for comparison. I made the 4 hour trip to Dr. J’s office and hand delivered the 2 DVDs, one with all the written reports and one with the 3 comparative MRI images that I was sent. I waited for over an hour for someone, (an intern?) in his office to bring up the MRI of my thigh on their computer so I could screen shot it with my phone. They thought I was nuts, but I hadn’t thought to do it when the researchers were showing it to me on their laptops. Patients are rarely given copies of MRI images because you have to have the software to read the discs. Subsequently, I have no pictures from all these MRI’s I’ve had. Not one. Only copies of written medical reports.

Two weeks later, Dr. J’s office calls me. They want me to come in for a pre-op consult. I specifically asked if they had received the images from my recent MRI, and had Dr. J looked over the additional 22/23 MRIs from the study? They couldn’t confirm if he personally had seen them, but the recent MRI was absolutely there they said. We set up the appointment for September 11. Since my husband and I share a car, I decided to rent a car, drive over the day before and spend the night at my friend’s house. A 4 hour drive for me is difficult, especially since I’m already in a state of high anxiety because I’m anticipating medical discussions that typically have no good answers. People really have no idea how anxiety producing these encounters are for me, not even my husband.

I have now spent $200 on a rental car and been set up on a payment plan to pay off my copay for this recent MRI (over the course of 18 months at a cost to me of $2,775- the insurance covered $5,000). If I don’t have the surgery this year, my insurance re-sets for the new year and I have to start over with my deductible. This is a huge financial burden on my husband and I, as we are both retired.

On September 10^th I’m driving my rental to my friend’s house to spend the night. Dr. J’s office calls. “Hey,” they ask, “By any chance are you bringing that recent MRI disc with you to tomorrow’s appointment?” I truly want to stab myself in the eyes and blindly drive off the road… “You never asked me to do that, in fact I made sure I had confirmation when I made this appointment that you guys had it.”  I gritted between my teeth.

“Well, apparently we only have the written report. But you could just run over to the hospital and get a disc before your appointment tomorrow, couldn’t you?” She quipped.

“Uh, No. I’m already on my way.” I tell her.

“Oh, well I don’t know what he’ll be able to tell you at the appointment, or if he’ll be able to schedule surgery without it” she informs me. I’m furious because this kind of lack of attention to details is what I’ve come to expect from the medical community. This kind of ludicrous crap happens. Every. Time.!!! Why would a surgeon order an MRI and not want to see the images? Why would they require a separate request for the images??? Since when is it the patient’s responsibility to transport medical records from one place to another? It’s illogical!  When I arrive at my friend’s, I call the hospital that performed the MRI. I speak to their patient relations person. She empathizes and sends me to records where they are very sorry to have to tell me that the next-day mail has just left. The woman assures me she’s burning the DVD as we speak and they will fedEx it asap. The doctor won’t have it in time for my appointment, but it will get to him within 24 hours.

I woke up the morning of my 3^rd appointment with Dr. J expecting a non-informative consultation. At best, Dr. J will have looked over the older MRI’s (which remember now are just barely over one year old), maybe done some reading about PIK3Ca,  as to be better prepared for our meeting. Maybe gained access to recent research about it, familiarized himself about it. At worst, we can schedule the surgery and he can give me a timeline for the surgery and recovery. I wish I could say I felt as confident in his capabilities as the first time we met, but I can’t.

I arrive early and they take me in about 5 min. before my appointment time. The intern who showed me the MRI images on the computer when I was there last enters my exam room with a resident. I smile and great him warmly, “Hi! I remember you. You showed me my MRI images last month.” No response. No acknowledgement. I’m a specimen on an examination table now, not a human being.

“Yeah, so we still haven’t received those images we needed, oh- unless you happen to have it in your bag there, do you?” He indicates to my tote bag.

“No, I wasn’t told I would need to bring it -until yesterday when I was driving here. I spoke to the hospital yesterday and they are fedExing it to you later today”. He and the resident leave the room. Minutes go by. Whispering outside my door intermittently. Quiet. Then more whispers. Finally Dr. J comes in with about 5 different residents in tow, but not the intern.

“Hey There! How’s that thigh doin?” he asks me.

“Still growing” I reply. We briefly discuss the issue at hand, (no recent MRI to refer to so surgical consult is limited). I brought up again-the 3 comparative Full Body MRI’s I had made available to him. Saying surely having the full body images was helpful? I’m wondering if he can see a visible difference in the tumor over the course of the year-long study. The whole time we were measuring for a decrease in response to the medication, not an increase. It never even occurred to me to ask until after the study ended, if the increased growth of the tumor had actually been visually recorded. My suspicion is that Dr. J never even looked at the disc. He disregarded it just as the intern had, “We really prefer to have something recent,” he told me. He mentions rapid growing cells always being a concern for cancer, we should do a biopsy, yada, yada. His residents knowingly nod. I mention that increased risk of  cancer is one of the concerns common with my overgrowth disorder, but so far I’ve only had lipomatous tumors, not malignant. He agrees, (like he knows). He tells me he can remove the tumor, but the difficulty lies in normal fat cells being so similar to the lipoma fatty tumor cells, bla, bla, bla. The explanation was clearly for the residents and not me. Then he tells me we can go ahead and set up a surgery date today. I should expect a 6 week recovery and will likely have a drainage tube that will remain after surgery. My incision will be pretty big and on the outside of my thigh, (where it will be most visible). Despite the fact that my cantaloupe sized tumor that sits just under my butt cheek will be removed, there will likely be no noticeable size difference in my thigh post op. I will  have to spend the night in the hospital after surgery, FOR PAIN MANAGEMENT…

I was stunned. This wasn’t what he had said 6 years ago. He must have sensed my trepidation because Dr. J then told me I could do nothing instead, if I chose. I said I wanted the surgery regardless and he said ok. He dismissed me by saying, “I’m sorry this is happening to you”…

Wait! What? I realized what an idiot I had been to think that there was any empathy with this doctor. He didn’t really understand my condition any more than any of them ever do. He says that to all his patients. He says it every time. This guy has made no effort to educate himself about my condition, and had no intention to. None of them ever do. Either they are so arrogant as to think they don’t need to be educated, or they just don’t care or want to learn.

This is the reality of life with hemihypertrophy. I’ve had doctors (top neurologist) tell me this was psychosomatic, others have suggested I amputate my entire foot. Either extreme is ridiculous, but the middle ground is a mine field of misinformation and disinterest by the medical community. This is just one of many, many disappointing encounters I have had with doctors in my adulthood. I have had my hopes up many times only to be let down time and again. I never elected to have a leg shortening procedure, (called an epiphysiodesis), and remember doctors discussing it for me with my parents. I always thought it sounded barbaric, and I suspect so did my parents. They didn’t do it, maybe the measurement didn’t warrant it, I don’t remember. As an adult my LLD changes all the time, depending on my spinal alignment. I’ve seen a chiropractor most of my adult life and it has made all the difference. I’d heard the surgery was life changing for some hemi patients and they had no regrets ever, but for others it was a nightmare. Screws come out, procedures fail to hold up, other complications arise. The procedure has remained unchanged for 50 years! Even those who felt it was a success admit that early arthritis is still a big problem… and yet that is what the procedure is supposed to prevent. That’s the reason doctors tell parents their child needs the surgery-to prevent spinal problems in the future. I feel very conflicted about this and wish it would be addressed by the orthopedic community-but it’s not.

I guess the impression I most want to make is that this is NOT simply a childhood disorder that improves with age or goes away. Yes, most of the overgrowth does happen during childhood, but the repercussions of being an adult with this is simply not studied or known, let alone treated.  Now is the time to collect data and do research so that future kids might avoid a lifetime of pain and disfigurement, if it’s at all possible. Despite the fact that this is supposed to be a super rare disorder, I see parents of new babies who are being diagnosed with this every other day on Facebook. Occasionally, some new adult posts that they just found the group, had been given the diagnosis in their youth and had no clue as young adults what to do next. There are 5 different hemi groups I follow and I’m very, very active in seeking and sharing information. I’m ready, willing and able to contribute knowledge and always have been. I’m considerate of student doctors, deliberately choosing teaching university hospitals for my surgeries in the hopes that someone might connect with people studying this, or take enough of an interest to want to study it themselves… That never happens. I am a born special educator. I’m seeing a trend. In 2008 when I started teaching in the field of autism, the incidence rate was 1 in 88 births. Now it is 1 in 54 births.  Not saying this is a fair comparison, (certainly not a leap a geneticist would ever make), but logically: the population increasing and diagnostic tools getting better at identifying specific disorders does certainly make an increase in Hemi cases plausible. Maybe not so rare after all, just understudied and unknown as of yet… This could be a legitimate problem in the future and people are going to want treatment options.

I’ve learned through my research trial last year that this disorder has been shown to respond to chemotherapy in very young children. There may be only a small window during the growth period that medicine could intervene and correct this genetic flaw. I read on the Alpelisib FB page about people, toddlers, who are on it right now and seeing benefits. Some adults with vascular involvement are seeing an improvement but long-term efficacy is still unknown. What I don’t understand is why limb shortening surgery is even still an option??? Why would anyone choose surgery for their child when a chemical could correct the genetic flaw and change a child’s growth development? I’ve been criticized on Facebook by new parents who only want to hear positive outcomes for their children. Their doctors have sold them on the wisdom of epiphysiodesis and make it sound like it’s a reasonable, even necessary procedure. It is not. It is very painful, not to mention unnatural and traumatizing to the body. There is also some speculation that once the tissue is surgically altered, the medicine can’t reprogram the cells to self-correct. I’ve been very vocal on FB about this, because I don’t think parents are being given accurate medical advice about the newer research and the medication trials going on. Every one of them are overwhelmed and looking for answers that don’t exist yet. They want reassurance and these doctors give it. They give it even though they have no right to. No one does.

Here’s what I can tell you about life with Hemi-Hypertrophy: There’s no good surgical option for this disorder. None. Every surgery I have had was necessary for mobility and pain management, but also created new, unforeseen problems. For example, amputating my big toe solved the constant bone spurs that kept developing, but severed the nerve to my next toe. Now my balance is off and the 2^nd toe is numb all the time. I bang it and trip often. I have a callus on the ball of my foot where you constantly pivot. It’s a pressure callus and it splits open and bleeds often. It’s quite painful and I’ve always had it. It will always be an issue for me. I developed painful arthritis in the center of my foot at 30 and lived with it for a decade. Fusing the joint gave me relief from that pain, but dramatically limited my range of motion. Eventually, 20 years later, one of the pins dislodged from the bone and broke through the surface of the skin. It was removed surgically. The arthritis pain is returning, and now it is in both feet, (likely from overcompensating all these years). I’ve been battling my insurance company for 2 years to cover that particular surgery and they have sent my bill to collections more than once despite us proving it clearly being clerical error on their part.

In conclusion, this is a painful, frustrating, expensive and never-ending medical condition that doctors seemingly have no interest in curing. I would not wish it on anyone. It is a condition that causes a part of the body to be deformed… You can’t correct that surgically. You can modify and compensate medically, but it will never be “fixed”. “Functionality” is the best we can currently hope for. Almost all of us struggle with arthritis and pain starting in early middle age. In the future, they will be able to have a treatment that corrects the malfunction while a child is still growing- they are getting pretty close already. For now, the best we can hope for is early detection and early intervention-just like any other disabling condition.

As human beings, we all have to deal with strife in our lives. Everyone’s got something they are carrying. No one gets out of here unscarred. That’s how I look at it.  I’ve made the very best of my life despite it, and I was afforded top of the line medical intervention in my lifetime. Despite the negative experiences I’ve had, I do realize how very fortunate I am. I’m still able to walk and function fairly well. I’ve fulfilled my childhood dream of becoming a special education teacher for 30 years. I’ve loved, I’ve traveled, I’ve danced at my daughter’s wedding and held my granddaughter in my arms. I’ve enjoyed my life and I continue to manage my pain the best I can, but it’s chronic. If you or your child have this condition, my best advice is GET GREAT HEALTHCARE COVERAGE! You will absolutely need it. My parents had it and I had it for most of my life. I don’t know how I could have paid for all the surgeries I had without it. I’m in a real quandary now that I no longer have it. I’m not old enough for Medicaid, and only recently was able to go back to my employer’s healthcare through my pension that just kicked in, (Thank You Year of the Dragon!). Still, my deductible is outrageous. The coverage is nowhere near what it used to be. This could financially ruin the secure future my husband and I had prepared for. The second piece of advice is:  Don’t ever let doctors intimidate you, and they will try. No one is an expert in this. NO ONE. Furthermore, no one is going to go out of their way to teach you about it. You are going to have to do all the research yourself. In fact, You are going to have to teach the doctors, not the other way around. This is life with Hemi. It’s not easy. It could be much better. It could also be much worse. It depends on whether you’re an optimist or a pessimist in the end. Living with chronic pain is hard, but until a cure is found, what’s the alternative?