New Hope for Steph - and Bernie
This is Steph in 1998 at the age of 11.
And this is the most recent photo taken of the family and Steph at age 30.
The first photo was taken in 1998 when Stephanie was on vacation in Croatia with her little sister, Michelle; Dutch mother, Bernie; and American father, Jim.
It was the last summer she could stand. A few months later, she woke up with a fever, and when it had passed, she found to her horror that she had lost normal use of her legs.
Steph spent the next 18 years in a wheelchair visiting medical specialists in her home country of the Netherlands. Her quest to find answers and secure relief for a growing list of symptoms, including a progressive and severe scoliosis as well as multiple orthopedic deformities, ultimately proved fruitless. As her ability to lead a conventional life declined and her pain grew worse, her doctors could simply not understand what was happening to her.
In one final attempt to get to the bottom of her illness, Steph and her family decided to visit the world-renowned Mayo Clinic in Rochester, Minnesota. They went there simply for another opinion; what they found was a revived sense of hope.
Since November 2014, a multidisciplinary team of specialists at Mayo Clinic has been collecting vast amounts of data on her condition, the likes of which they have never seen before. What they have managed to conclude is that her condition--which presents itself mainly in muscle weakness, spasticity, and dystonia in her legs and spine--is likely caused by a serious metabolic problem. The illness appears to be progressive; the resulting debilitating pain has made it difficult for Steph to even just sit in her wheelchair. For Steph, who dreams of building a career in education or the medical field, this state of affairs effectively means that her life has come to a standstill.
The data her Mayo team has gathered is beginning to present some answers and possibilities, but many questions and uncertainties still remain. Her doctors are determined to plow through these and concurrently treat her symptoms. In return, they ask from Steph an equal level of commitment. In the words of her main neurologist, “As long as you keep going, so will we … Never give up hope.”
Initially, the high cost of tests and treatment threatened to cut short Steph’s Mayo journey, but, inspired by her team and newfound sense of hope and confident that a financial solution would present itself, Steph pressed on. Intrigued by her case, Mayo ultimately decided to forgive a significant portion of Steph’s medical costs, which have already extended into the millions of dollars.
However, the costs associated with uninsured medical expenses, frequent flights, legal fees, and daily living expenses in Minnesota, amounting to a total of around $6,000 per month, are jeopardizing the whole enterprise. Simply put, without assistance, the family will be unable to access the world-class level of care that Steph is currently being offered and be forced to abandon their journey. If that happens, Steph faces the prospect of a life confined to bed.
In order to help Steph and the Yarnells meet these financial obligations, a group of friends and colleagues from the American School of The Hague (ASH) have come together to raise funds for the Yarnell family, which has spent the better part of 40 years at ASH as both teachers and students.
Our goal is to cover the family’s Mayo-related costs for the next two years, the expected length of Steph’s surgeries and intense rehabilitation. At $6000/month, the family’s costs would amount to around $150,000 for the two-year period.
We desperately need your help today.
Steph's first major operation took place in late February 2016. Her left leg--already significantly deformed by the disease--was amputated above the knee. This paved the way for the next stage in July 2016: a ten-hour spine surgery, in which her doctors realigned her vertebrae and anchored her spine to metal rods (see above). In a ground-breaking new procedure, Steph’s doctors used bone from her amputated leg--which was preserved in the Mayo Clinic Bone Bank--to straighten and strengthen the existing bone in her spine.
The recovery from this invasive procedure is proving to be long and marked with numerous complications. Even now, 2 years after the surgery, Steph is still weak and in need of constant care as she rehabilitates and prepares for more surgeries and treatment. With dad and sister employed in Europe, Steph is so grateful to receive this care - both physical and emotional in form - from her mom Bernie, who has given up her job at the American School of The Hague to be with her daughter.
But recently (October 2017), that care was threatened to be jeopardised, too, as mom and sole care-giver Bernie was diagnosed with bilateral breast cancer. Since Bernie is a Dutch citizen, she was not eligible for health insurance in the U.S., and returning to The Netherlands and leaving her daughter behind was simply not an option. So Bernie had to undergo a double mastectomy surgery in the U.S. Fortunately, she recovered well from this surgery and is now cancer-free. Still, the cost of this treatment significantly added to the costs that the family is already facing for Steph's treatment.
Despite all these complications, Steph and her family are holding on to their fighting spirit and faith in a positive outcome, inspiring all with whom they come into contact: from Steph's medical team at Mayo to other patients, colleagues, friends, and family. We hope that this family's story will move you, as well. Every contribution, large or small, makes it possible for the whole Yarnell family to continue hoping for a better quality of life and for Steph's doctors to keep working on unraveling the mysteries of her illness.
Steph with mom and primary care-giver Bernie, who was recently treated for bilateral breast cancer.
If you are interested in learning more about Steph and the family and seeing recent pictures, click on the "updates" link below, or visit the website set up by her friends of the Yarnell Family Trust.
The Yarnell Family Trust
Chris, Dawn, Tim, Sabine, Nic, and Myriam
Sending you another update from Rochester, where my parents, sister, and I have been cherishing some much-needed family time.
We were especially grateful to be together on July 18th, which marked the 2-year anniversary of my spine surgery. My most recent check-up revealed that the discomfort I have been experiencing is due to scar tissue and loss of muscle mass. Fortunately, though, the X-rays showed that all the hardware is still in place and that the bone they used from my amputated leg has fused nicely with my spine.
As you may recall, the remainder of my leg (the part that was not used in my spine surgery - mainly just my foot/ankle) was saved for what was supposed to be my final surgery, aimed at correcting my right ankle deformity. But due to all the complications since my spine surgery, I have not (yet) been strong enough to undergo another invasive procedure. The amputated bone, however, remained viable for only 2 years, so several weeks ago, the Mayo Clinic Bone Bank informed me that the foot - from a medical perspective - had become "obsolete."
The Bone Bank offered to "dispose" of the foot, but this did not feel right. When my leg was amputated in February 2016, I made it a promise that it would come back to me - all of it. And so a few weeks ago, upon my request, the Bone Bank sent me the package containing my foot, which found a temporary home in our friends' freezer (yep, that's what friends are for!).
Temporary... because on July 18th - that 2-year anniversary of my spine surgery - my family and I took the foot to Macken Funeral Home & Cremation Services. I thought I would only drop off the package, but at the last minute, I decided I actually wanted to see the foot. And so, under the guidance of funeral director Madeline Holets, we unwrapped the foot from all its medical cloths.
This truly was an amazing experience. The foot still looked exactly like my foot - every line... even that small mole I had on the sole. And as I sat there and it thawed in my hands, it even began to feel like my foot, too. Exactly how I remembered it. The severe deformity of my ankle was also very visible, yet that I had - somehow - forgotten; this was good for me to see, as it quieted any remaining doubts I had about whether the amputation was the right thing to do. Moreover, I think this intimate experience with my foot/ankle allowed me to finally say goodbye to that whole amputated part, as I felt a loss afterwards that I had not yet felt since my amputation.
And so I'd like to take this opportunity to thank Macken Funeral Home for offering this complimentary service, especially funeral director Madeline for her truly amazing guidance throughout this process. It was meaningful beyond words.
I now have the ashes in a little urn. Next, I will be looking for a pendant to hold some of the ashes. Initially, I will be wearing the pendant as a necklace, but my sister has an awesome idea for the future: As soon as I am strong enough to wear my prosthetic leg again, I will convert the pendant into an "ankle bracelet" for my prothesis, returning the ashes to their "own" place. Brilliant, right?!
But in order for that to happen - for me to continue with my rehabilitation - I first need to gain weight and strength. My GI complications must be resolved. And so I am getting ready to receive the Fecal Microbiota Transplantations (FMT) (in Dutch: fecestransplantaties of poeptransplantaties), starting August 13th. During a course of 2 weeks, I will be receiving a total of 10 transplants from 4-6 different (anonymous) donors.
To give the transplants the highest chance of success, I have been advised to rest as much as possible. This is especially important during the transplant weeks, but also during the weeks that follow, as it will take up to 3 months for the new bacteria to fully colonise. As always, I promise to keep you informed, but I hope you understand that I will be limiting my time behind my computer and phone, especially during the treatment period.
For now, I'd like to wrap this up by sharing with you a picture of the urn. (Don't worry - I'll spare you the pictures I took of the actual foot, before the cremation!) With my weight loss, I am uncomfortable with current pictures of me, but my sister sneaked that other picture of my dad and me, reflecting on all that has happened, while sitting in the courtyard of Mayo's St. Mary's Hospital on July 18th, shortly after the cremation.
I hope you are also experiencing some reflective, peaceful, and happy moments this summer.
From my family to you and yours, we send you love and gratitude,
Steph, Bernie, Jim & Michelle
Link to FMT therapy: http://thefecaltransplantfoundation.org/what-is-fecal-transplant/
During my last update, we were still covered in several feet of snow. This week, the sun has been shining, and the thermometer reads an average of 25 degrees Celsius.
As you probably deduced from my last update, I did not respond well to the IV nutrition (the TPN). It worsened many of my symptoms, gave me horrible brain fog and even depression, and my weight-gain did not nearly proceed as quickly as my caloric intake would have predicted. I was finally getting all the necessary vitamins, minerals, amino acids, and calories, but I felt absolutely horrible. And so it became evident: my body was clearly not metabolising something correctly.
So more tests followed. These indeed showed problems in my so-called folate cycle and histaminergic system, both of which are involved in (neuro)metabolism. With this new information, Mayo has decided to re-analyze the genetic data that was collected from me two years ago, in the hope of finding some more answers regarding the underlying cause of my condition. But as you can probably understand, this will require some more time.
In the meantime, given these recent developments/tests, the TPN has been put on hold, and I have been put on a so-called low-histamine diet. This diet eliminates all histamine-releasing foods, as well as foods high in histidine (the amino acid that is the precursor to histamine). So far, I appear to be responding better to this than to previous diets we have tried, and I certainly feel better than on the TPN. I do still have the Hickman catheter in my chest, just in case we need to resume the TPN. Because despite this diet and three months of bowel rest during the TPN, my gastrointestinal (GI) problems persist.
Given these ongoing symptoms and my GI test results, my medical team suspects that I have severe dysbiosis of my gut microbiota. This dysbiosis can explain my persistent GI problems, and it could even be contributing to some of my other symptoms, including the underlying metabolic problem and my corresponding neurological symptoms.
This so-called neurogastroenterology is a fairly new field of medicine, so too little is known to be sure. Still, my doctors feel I could significantly benefit from a so-called fecal microbiota transplantation (FMT) (in Dutch: een fecestransplantatie of poeptransplantatie), in which fecal bacteria from healthy donors are transplanted into the intestines of patients. Yes, I know this sounds horrific, but studies are starting to show that this could be a promising medical treatment.
Currently, the U.S. FDA (Food and Drug Administration) approves FMT treatment only for patients who test positive for a so-called C. difficile infection (a GI infection). Although I had this (horrible!) infection after my spine surgery, I currently test negative for C. difficile (after several rounds of antibiotics). These same restrictions regarding FMT treatment apply in The Netherlands and most other European countries, and so I will only be able to receive this treatment in an "off-label" / experimental setting. As such, the costs associated with it will not be covered by my medical benefits.
Still, given its potential, my medical team feels that this therapy is worth pursuing. Based on the degree of my symptoms, I have been advised to undergo a total of 10 transplants, during a 2-week period. These transplants will come from 4-6 different, highly screened donors. This ensures the highest variety of (hopefully beneficial) bacteria.
But before receiving the transplants, my GI system has to be prepared to create the optimal environment for these "new inhabitants." And so I have been put on some new medications, and am on track to receive the transplants in August.
Studies have shown that FMT therapy cures the C. difficile infection in about 90% of the cases, and preliminary research is showing that this therapy might also be effective for other diseases/conditions, including metabolic problems and even neurological conditions such as Parkinson's. And so I am very hopeful that this treatment will benefit me.
But please do realize: The only reason I am able to pursue this avenue is because of the donations you have--so generously--given. As I explained, due to the lack of FDA-approval, my medical benefits do not cover the costs of these transplants or the associated pre- and post-treatments, which will amount to a total of approximately $10,000.
And so here I go again: Words cannot express how grateful I am for your support, on all levels. My mom feels the same gratitude. She is recovering from her final breast reconstruction surgery on May 10th. She still has some restrictions, but she's feeling (and looking!) good. She is looking forward to becoming an advocate for breast cancer awareness--especially, the risks of dense breast tissue--as soon as our health allows.
As I recently shared with a good friend, on an emotional level, this whole medical journey seems to be taking forever. But the scientist in me sees that things are moving--developing--as fast as they can. I have come to see that true progress requires time and setbacks. Sure, the TPN made me horribly ill, but it did bring to light some new answers (i.e., I clearly have a neuro-metabolic problem) as well as treatment options to explore (i.e., the potential of fecal transplants). And so we will now pursue those, one step at a time. I can honestly say that newfound hope has replaced the desperation I felt during my last update. And so I celebrate my 32nd birthday today with the vision of a bright, new year ahead. (Incidentally, this vision includes the ability to eat cake and throw a party for my next bday!)
I'd like to wrap this up with a picture of our living room (thank you--ASH crowd--for the quilt!), a picture of the view from my bed (thank you for all the cards!), as well as a photo of our favorite spot on the Mayo Clinic campus. Just to give you an idea of my daily surroundings...
Please know that I also love receiving updates and pictures from you, even when I don't respond in-person. My thoughts and gratitude are with each of you, every moment of the day. I promise to keep you apprised.
Till then, with love as always,
Steph (and the rest of the family; we're really looking forward to some time together this summer.)
More on fecal microbiota transplantation: http://thefecaltransplantfoundation.org/what-is-fecal-transplant/
Another update from Rochester, after several very heavy weeks.
As I shared in my last update, I was admitted to the hospital on Monday, Feb. 26, to start the TPN (total parenteral nutrition) therapy. My doctors placed a so-called Hickman catheter in the morning, and the TPN infusion was started that evening. The original plan was to put me on a 12hr / day infusion, but this caused such significant fluctuations in my blood sugar levels, that it has since then been decided to put me on a 24hr (i.e. continuous) infusion, at least for the time being. This has stabilised my glucose levels, though I must say that being connected to an IV pump 24/7 has its challenges. Fortunately, the pump, IV bag, etc. do come in a special backpack that I can hang on my wheelchair, so it does not limit my mobility.
During my hospitalisation, I also received several hours of education on how to safely handle the catheter and TPN. With the high risk of infection, this is quite convoluted. But since I mastered the skills relatively quickly, my doctors deemed it safe to discharge me after one week. And so I am back "home" now, with a pharmacy of supplies.
It's nice to be home again, though the days since my discharge have been very challenging. One of the things I've been struggling with is finding a new daily routine, especially since I've been put on complete bowel rest (i.e. no oral intake), so "eating" is no longer part of my daily schedule. I am getting all my nutrition through the TPN, so I am not really hungry, but I do truly miss the act of eating, especially from a social perspective.
And then there is the challenge that - for yet unknown reasons - I have actually lost even more weight since starting the TPN and feel worse than I did several weeks ago. So the most recent plan - devised today - is to further increase the calories I receive through the TPN, as well as run yet even more tests - tests that can only be done now that I am on bowel rest.
I am trying to be hopeful that the answer to all these complications - and the turnaround point - will surface with this latest plan, though I must admit that this hope is becoming increasingly harder to find. I feel I am reaching the end of my rope. Physically, I feel totally drained. Emotionally, I feel frustrated, sad, and desperate. Empty.
And so - perhaps even more than before - I am so grateful for the love and support I receive from those around me: from you, from my doctors here, and my family. Believe me when I say that it is that energy I am currently tapping into to keep moving forward, one day at a time.
My mom's theory? Perhaps I need to hit this rock-bottom state to rebuild from there. Who knows... perhaps in my next update, I can let you know that she was right. Let's hope for that.
Till then, sending you love, as always,
Mayo Clinic's link on TPN: https://www.mayoclinic.org/tests-procedures/total-parenteral-nutrition/about/pac-20385081
Hereby another update from Rochester.
Unfortunately, I am not doing well. My weight has dropped to 35 kg (77 pounds), and I feel very weak and exhausted. Over the past few months, we have tried many treatments - new medications, special diets, nutritional supplements and shakes - but nothing seems to work. My gastrointestinal (GI) system simply appears too damaged from the complications I endured after my surgeries. For this reason, even tube feeding (in Dutch: sondevoeding) is ineffective.
And so my doctors have decided it's time to start me on a type of IV nutrition called TPN (total parenteral nutrition). With this therapy, fluids and nutrients will be pumped directly into my bloodstream, via a central catheter in my chest called a Hickman line (see pic).
My doctors have waited with this until now, for TPN therapy carries significant risks. The catheter can get infected, and because nutrients are pumped directly into the bloodstream, many patients develop liver, kidney and/or heart problems. In addition, there is a high risk of so-called refeeding syndrome - a condition whereby the body, ironically, goes into shock from suddenly receiving the nutrients of which it has been deprived.
These risks are especially high at the beginning, and so I must be admitted to the hospital to start this therapy. I'm scheduled to be admitted this Monday, Feb. 26. Over the days that follow, my mom and I will be taught how to administer this treatment ourselves, so that I can continue with it "at home" (i.e. as an outpatient). So, depending on my response, the hope is that I will only need to be in the hospital for about one week.
Once I am on the TPN, I will not be allowed to eat anything for several weeks. My doctors are hoping that this so-called "bowel rest" will give my gastrointestinal system a chance to heal, so that I can eventually eat normal food again. In the meantime, we are hoping the treatment will help me gain some weight and strength.
Still, the risks are scary, and the thought of being hooked-up to an IV for 12 hours per day over the next few weeks/months - as well as not being allowed to eat anything at all - is daunting. But as my doctors explained to me, we have simply exhausted all other options and are left with no other choice. We have to take this leap of faith.
And so I have chosen to visualize that this will help me, without complications. That it will give my body what it needs to heal, so that several months from now, I can fit my prosthetic leg again and continue with my rehabilitation - because I have simply come too far to not have better times ahead. A better future - living a normal, independent life - is why I first came to Mayo Clinic in 2014. I am still determined to fulfill that intention.
That said, I find myself struggling through many moments in the day. Fortunately, I am blessed by the continuous support of my mom, who - I am so happy to report - is doing quite well. She is experiencing some side effects from the hormone therapy, but she is completely cancer-free and recovered from her own surgery.
And I truly find strength and motivation in the support and love I receive from all of you. And that goes not just for me, but for my entire family. Yeah, yeah... I know how totally cliche that sounds, but it's simply the truth.
I will try to send another update once I'm out of the hospital. In the meantime, I hope you're finding joyful moments in your days. My mom and I are finding joy in watching the Olympics. Oh, how awesome it would be to go snowboarding someday! :)
As always, with all my love,
Mayo Clinic's link on TPN: https://www.mayoclinic.org/tests-procedures/total-parenteral-nutrition/about/pac-20385081
We have a very large group of "ASHpats" here in Houston. With the permission of the Yarnell family and Team Stephanie, I would like to host a fund raising party here in Houston. Please let me know soon. And let me know if there is any additional info that I may pass on to the attendees.
Thank you Team Stephanie, all of you, for sharing, and eloquently expressing the story of Stephanie's courage and the long journey she and all of the Yarnells have undertaken. Stephanie and her family have lived lives of creativity, productively and generaoisty,- transcending the hardships of this medical mystery. They have been models of strength and humanity. It's a honor to be a part of this campaign.
Hi Steph, you don't know me, but I knew your sister in Oman and also spent some lovely time with your mother when she visited Michelle. Michelle told us much about you and since then, I have followed your story via Facebook. You are truly inspirational in your journey through all of this since your life changed at age 11. Keep comfort in the knowledge that even people you don't have a personal relationship with are affected by you and the courage your emit.
Dear Steph, reading you has always been inspiring and moving, and this time more moving than ever. If only our admiration and affection could translate into recovery and wellbeing for you. I truly hope that all the prayers, the love and care you are receiving will contribute to climb back this uneasy hill in front of you and to regain your strength.
We wish you a very happy and restful family time together for Christmas. All the best for you Stephanie and your mother.