Even before Ella became sick, I had had my share of dealings with medical staff from all spectrum of the profession. From one province to another, from one country to the next, no medical systems are alike. No medical schools teaches medicine exactly the same way. And as if that was not complex enough, no two doctors retain and practice the medicine in the same manner. And so, I acquired tools to adapt. I never knew then how precious they would become.
Here you will find what I hope are helpful suggestions to deal with medical professionals. They are based on my experience with regards to my own health and specifically with Ella’s health, but have been recognized as ‘bang on’ tools by doctors.
1) “Create a summary of your (or your child’s) medical conditions”. A one to two pages document that you prepare yourself or is done my a trusted medical professional recapping the conditions you or your child is affected by will go a long way. It may even help doctors connect the dots together.
2) “Request copies of all reports and tests.” Rarely will medical professionals offer copies of reports and tests to you and yet, it is your right to have copies of all medical documents (unless something in your records is deemed a risk to endanger you or someone else in which case a doctor could refuse to give you copy). Do note that some doctors will charge for copy making and mailing, in addition to a fee and de-archiving costs.
3) “Keep a medical log/binder.” I lived with many manageable health issues and as I grew older and moved multiple times for my career, I began to gather my medical records to ensure proper follow-ups by my primary doctors and specialists (who changed every time I re-located). It started it one medical document I carried in my wallet in case of medical emergency; it was issued by my cardiologist when I was 8 or 9. And from there grew a medical binder of medical reports (xrays, pulmonary functions, blood work, CT scans, MRIs, etc.), copies of medical history prepared by family physicians and specialists, copies of prescriptions and reference documents for specific conditions. Ella had 5 huge binders. Each is now being organized chronologically, by specialty (e.g. all my pregnancy records together, all my pre-pregnancy blood works reports together, all MRIs together, and so on).
4) “Don’t assume medical professionals know what you are talking about. Especially when it comes to rare diseases.” A rare disease is called rare for a reason. It happens by definition to less than 1 in 2000 people and there are more than 7,000 cases rare diseases known today so PVNH may not be known to them. I provide to all my doctors and medical professionals that work with me on my health now a copy of the credible sources I encounter about PVNH (Genetics Home Reference’s site (in layman’s term) or National Center for Biotechnology Information) and a copy of the medical summary too.
5)”Do your own research”. You are more than likely the only one that will lose sleep over your health (or your child’s health) and you are definitely the only one that can move heaven and earth to find answers. I found that after Ella’s passing, her case became less urgent to be solved. I can understand why in a way, because other patients are living and they need help. But I could not stand that, and still can’t – because I know that Ella’s case holds answers that will solve a mystery for another family one day. So I researched and still continue to research, find case reports, work hand in hand in world specialists and families that all help build a better understanding of PVNH and most definitely a support system for families affected by the disease.
6) “Bring the same notebook to all appointments.” If you are like me, you tend not to recall all important information shared at the appointments. Keeping a notebook will not only enable you to log your questions ahead of doctor visits and the answers the doctors give you when you ask the professionals, it will also enable you to write down the crucial information you will need to add to your main log / binder.
7) “If you can, get a second opinion”. Going back to #4, it might be worthwhile to have another specialist review your records with regards to a diagnosis. Don’t take information you receive as the final answer – medical discoveries are made every day. And it is because of people who asks questions day in and day out that progress is made.
8) “Trust your gut.” Within days of Ella being born, I told nurses and doctors that Ella’s breathing was abnormal. And although I know now that they heard a “wheeze” when she was breathing (as noted in medical records I requested after her passing) but failed to tell me. I was simply told not to worry and that all was okay. I continued to mention her breathing anomaly (looked like gasps and sometimes rapid, small breaths) to the staff for the 5 days we were in the hospital after her birth, to her pediatrician in the 2 months that followed and yet, to my family doctor who saw her, etc. I was assured again everything was okay and that I was perhaps a bit of an over-anxious mom (a remark we hear too often when first-time moms encounter rare diseases)…
9) “Push for answers / actions. You are the only that can.” Ella’s PVNH diagnosis was actually part of a list of 7 items that were reported as potential diagnoses when we were discharged from the hospital after her 2nd stay (that lasted a month) at BCCH. This was 4 months before she passed. Although we talked back then about testing the FLNA gene, it was not done. And even after PVNH pointed to it in the autopsy report, 5 months after Ella’s death, some still hung their hat on CMV as a diagnosis although the pathologist confirmed it could not be what caused her end-stage emphysema. From that moment, I “pushed” our genetics team to get Ella tested. And that very diagnosis of PVNH was only formally confirmed 3 months after that, a whole 9 months or so after I had lost her.
10) “Identify a support system.” PVNH is a rare disease and while there may not be any other PVNH support groups than the one I created here and on Facebook (to my knowledge, and please correct me if I you know of others), there are other support groups you can have access to. I encourage you reach out to your local rare disease organization (RDF, CORD, NORD, Orpha.net, etc.) and as well, to your local epilepsy chapter if you or your child suffers from seizures. Many offer parent to parent support which can prove invaluable. It really does not matter if the diseases and disorders are the same as yours or not. I know from experience our struggles are all the same and only people who are in the trenches of rares diseases can truly get what is going on. Because let’s face it, unless someone is affected by a rare disease too, they may not relate to your struggles.
11) “Don’t be shy or stubborn, ask for help.” Hospitals and local health services may have services which you and/or your child can benefit from: speech therapy, physical therapy, psychologists, occupational therapy, respiratory therapy, etc.
12) “Involve your day care or child’s school.” Educating your child’s teacher is key in ensuring that your child will be as safe as he/she can be. Speak up about PVNH, its effects, how it may limit your child or even how your child may limit itself because of PVNH. Families affected by other rare diseases have also “educated” the children in the classroom about a particular rare disease and depending on your situation, this can be considered so that your child does not feel like an outsider.
13) “Look beyond the obvious systems for support.” Organizations such as Starlight Foundation, Variety the Children’s Charity and other local charities may be able to lend you support, emotionally and sometimes financially. Whether it is to secure equipments for your child to live better, to give him or her some joy and hope or to give you access to respite services, please be sure to look to your community for ways to help. Organizations may be able to provide support when asked – all pending on your child’s particular medical condition.
14) “Push back!” It is inevitable, one day it will happen. A doctor, a nurse, a therapist or some other medical professional will challenge the diagnosis or its symptoms and minimize its actual presence. “Push back!”. Someone’s ignorance, even though they may have a medical or scientific degree, does not negate the fact that you or your child has PVNH. If they are unwilling to work with you, with an open mind and open heart, seek another medical professional. Our life is complicated enough without adding more frustrating layers to it.
15) “Advocate” I always felt like if I did not push, nothing would get done and we would not certainly not know what I know today with regards to Ella’s diagnosis. In looking out for her and her health, I became her advocate. After her passing, I continued to be and furthermore, I became an advocate for the disease itself. Talking about it, blogging about it, bringing awareness to it – every step getting me closer to the finding families who like me have been affected by PVNH.
16) “Don’t lose hope”. Whatever the doctors told you would be the prognosis with regards to your child’s future, don’t take their words as the absolute outcome. The bottom line is medicine is only as good as what we, as human, have figured out about how the human body functions. And in the case of rare diseases, there is still a lot we still don’t know about. Physical challenges can be overcome, learning disabilities too and epilepsy can sometimes be controlled.
17) “Live!” Although you or your child may have setbacks on many levels because of PVNH, one can live with it. Live for the moment, the great ones, the loving ones, the sad ones, the sunrises and the sundowns. Every day is a new day, full of hope and opportunities. Don’t sell yourself or your child short. And don’t ever think of a disability or impairment as absolutely self-limiting.
18) “Dare are to dream.” Medical breakthroughs happen. Who is to say that in a future not so distant, some researcher won’t come across a finding that will help PVNH seizures be better managed, or stumble upon a gene therapy to treat some of the symptoms of PVNH. Progress in the field of medicine happens daily and it happens with rare diseases too. In the last 12 years, PVNH has been studied all around the world. And with your involvement, we can change the world of families affected by PVNH!