Time.

       continued from RARE Gene Therapy edition. To read from the beginning click here

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Noelle Kei, beloved friend of RARE Revolution's, Nicola Miller, talks about the gifts of time and faith and how this powerful rare mama is now facing her own race, having being diagnosed with diffuse systemic scleroderma and having stem cell treatment

​Were you and your family offered, any form of counselling ahead of making the decision and/or before starting the treatment? 
 
Yes. Before any transplant the hospital assigns every patient a social worker that meets with you to conduct a psychological assessment of your readiness to undergo such a difficult procedure. They offer to meet with your significant other and/or caretaker and children so that they can explain it in terms that young ones understand what will happen, so not just for the patient, but for the caretaker as well as the family as a whole.
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​Can you explain the process for medical insurance in funding such a novel therapy, and how you managed these financial pressures and burden?
 
My insurance company paid for all of my pre-transplant work, up to and  including a round of chemotherapy and the placement of my port. A few weeks before I was admitted to the hospital my insurance company denied my transplant, on the grounds that it was not a covered benefit for my diagnosis in my plan brochure. If I had leukaemia or another covered condition, then they would pay for it. It was devastating.
 
My haematologist, along with his nurse and my transplant nurse (assigned by my insurance company to assist with approval of treatments) worked tirelessly to get my transplant covered. One day whilst sitting at City of Hope I received a call to tell me that my transplant had been approved and that they made an addendum to my policy giving an exemption for scleroderma to be covered. A short while later I received a follow up call only to be told that a mistake had been made, and I was still not approved for the transplant. This was another devastating blow.
 
After rapid intervention and appeals we finally got confirmation that the insurance would cover the costs. For all of the testing prior to transplant, a month long stay in the hospital with a transplant and all the post op care; my insurance company was billed more than a million dollars. The endless EOB’s (explanation of benefits), several re-billings coupled with the fact that my insurance was using a third-party company to pay and manage the claims only made things more confusing.
 
I had thought that what I was charged in 2018 was my final copay due. It wasn’t until a year after my transplant that I received my final bill from the hospital. That copay and co-insurance amount, coupled with the beginning of a new year of out of pocket expenses added to my hospital bill; totalling thousands of dollars.
 
The hospital has been very helpful in working out a payment plan with me, but nonetheless this bill along with many other medical expenses certainly adds a layer of stress to me in my recovery and to my husband.
 
What after-care and emotional support are you receiving post treatment?
 
I have had a wonderful team of doctors that have supported me throughout, including the difficult recovery post-transplant. My case has had its unique complications and I have always felt that my doctors have gone to great lengths to help me tackle any of the symptoms I have. They have always shown great concern not just for myself but for my family as well.
 
I went into this knowing that HSCT would not be a cure for me but had hoped it would halt the disease progression. It’s looking more and more like it has simply slowed the progression which I am still grateful for. Before my transplant I was given two years to live. While I have bought myself more time my future is uncertain, and it’s hard to predict how long I have staved off the worst of this hideous disease. Each day is a gift and I’m grateful to still be here with my husband and children. My husband has shouldered so much throughout this ordeal. From juggling the responsibilities of a job that often takes him away from home, to taking over household duties while being a caretaker to me. He truly is my hero and I’m thankful for him each day.

What if any, support and counselling have your husband and children received?
 
We have had such an incredible supportive village surround us during some of the most difficult days. From our family to our friends, from school, work, church and the dance community, we have had many helping hands. I can’t count the people who have given so much service to our family. Whether it was a call or text to check in to see how we are doing, shuttling our kids to school or their activities, driving me back and forth to my appointments with a four hour journey back and forth, not including time away from home, or the daily meals brought to our home during the week so that my husband didn’t have to figure out dinner after his long commute home from work.

Noelle and her family

Between counselling with ecclesiastical leaders of our faith or with professional counsellors when needed our family has been greatly supported. Going through such an arduous treatment doesn’t just affect the patient. It effects the entire family unit. We have been blessed with a community of many that have helped to lift not just me but my entire family.

Has your faith helped you and the family during this time?
 
It has tremendously. I don’t think we would have been able to endure what we have without the faith and knowledge that we have. When I first heard I had a life-limiting illness it was very difficult to deal with.
 
I felt panic with the thought I would no longer be here for my husband and my children. Especially having a son with his own rare diagnosis and the unique measures needed to care for him. It was especially difficult as I found myself somewhat awake in between each episode where my heart stopped three times in one day. I prayed for peace that if it was my time to go I would be ok. And I prayed that my family would be taken care of.
 
When life has got overwhelming and my burdens too big I know that my Heavenly Father and my Saviour Jesus Christ will help carry me and my family through whatever we are going through. I have had so many people not just of my faith but many different ones praying not just for myself but my family as well. We have certainly felt those prayers. There were so many different things that just fell into place from when I got sick to the time of my transplant and I don’t think these were just chance. At times I have felt like I have had not only earthly angels looking out for me but heavenly angels as well.

​What has been and is, the biggest challenge of managing your health whilst also raising a child with rare and complex health needs?
 
I think asking for and accepting others offers of help. We have had a lot on our plate juggling my rare disease along with our youngest child’s rare conditions and the health of other family members. When you add that to just the everyday tasks of running a household and making sure everyone is taken care of and gets to where they need to be it can be overwhelming. It was hard to accept help, but we soon realised that’s there’s no way we can do everything on our own especially with me being so sick. We haven’t been able to travel as much as a family and celebrations have been paired down because I wasn’t in a position to help. But it’s brought us closer together as a family and helped us realise that it doesn’t really matter how we spend our time together as long as we are together. And for that I am grateful for each day is a gift.
 
Is there anything you would like the health care professionals to know about your rare journey so far or things that they could have done to make things easily for you and your family along the way?
 
Listen to your patients. They know their body best. Let them help partner in their own healthcare. I am lucky that my doctors have listened to me and let me help guide my course of treatment. Because of that (coupled with many tender mercies) I was able to go from diagnosis to transplant in five months. Many patients spend longer than that just trying to get insurance to approve the transplant. I know everyone’s complications are so individual, but I think perhaps more could be done to prepare patients and their families for what to expect during and post-transplant. I would encourage clinicians to make more emphasise on the importance of educating the patients caretaker and families and supporting them in the aftercare.
 
What resources and signposting have you found helpful that you would like to share with others?
 
https://www.scleroderma.org
 
https://selfmanagescleroderma.com
 
https://sclero.org
 
https://sclerodermainfo.org

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Glossary of terms

Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The condition is characterised by the build-up of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. https://ghr.nlm.nih.gov/condition/systemic-scleroderma

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of systemic scleroderma (systemic sclerosis) characterised by skin hardening (fibrosis) and problems in many organs of the body. The disease can occur at any age but mainly affects people between 40 and 50 years of age. Symptoms include Raynaud’s phenomenon; skin fibrosis beginning on the fingers and face that rapidly becomes generalized; spider veins (telangiectasias) on the thorax, face, lips, tongue, and fingers; gastroesophageal reflux; and difficulty eating (dysphagia) along with weight loss, vomiting, diarrhoea or constipation. Dry mouth and dental involvement can occur. Joint pain (arthralgias), muscular pain, weakness, cramps, and destruction of the tips of the fingers or toes (acroosteolysis) are frequent. Severe problems involving the lung (fibrosis or pulmonary hypertension) and kidney problems may also occur. The exact cause of the condition is unknown. There is currently no cure. Treatment depends of the symptoms, but may include medication and surgery.
https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis

Haematopoietic stem cell transplantation (HSCT), also known as blood and marrow transplantation (BMT), is used to treat wide spectrum of haematological, and increasingly, non-haematological disorders. Autologous transplantation uses the patient's own stem cells, which are harvested prior to high-dose therapy. 
https://www.england.nhs.uk/wp-content/uploads/2018/07/Haematopoietic-stem-cell-transplantation-All-Ages.pdf

Copay is a fixed amount for a covered service, paid by a patient to the provider of service before receiving the service. It may be defined in an insurance policy and paid by an insured person each time a medical service is accessed. 

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