Could You Spell That Please? ~ 1 of 5

The Path That God Ordained
Could You Spell That Please? Facing the Diagnosis of a Rare Condition

by Debbie Taillefer

We were at the end of a long road of attempting to determine a diagnosis.  After much testing, prodding, poking, and more testing, we were finally at that moment of revelation.  I was concerned about what I was about to hear, yet greatly relieved to find out my child was not dying.  “We believe your daughter has a very rare metabolic disorder called, “Hypophosphatasia.”  I still remember sitting in my daughter’s endocrinologist’s office trying to wrap my mind around what was being communicated.  I clearly recall asking, “Hypo what?”  And, “Could you spell that please?”  I was excited to have a name, a diagnosis, and a list of symptoms and possible treatments.  Yet, all of these hopes and prayers for a plan of action were about to give way to one overwhelming reality: my child had a very rare disorder.

This disorder, Hypophosphatasia (HPP), was unheard of by the endocrinologist until that moment.  To his knowledge, there was no known cure, and his research concluded that no record existed of any other patients that had survived birth with this condition.  I am unsure exactly of all the range of emotions or thoughts I went through at that particular time.  I do remember thinking, “Well, Lord, I have always believed that You are the God of the impossible.  If I should have to face something like this, it would make sense that it would be the rarest thing ever heard of so that You could show Your ability, mighty power and glory.”  I also recall thinking, “Why does it have to be a rare disorder Lord?  How will we ever navigate such a path?”  Such were the polar opposites of my thoughts.  Yet in all of that, I was thankful that it was not Leukemia (her first diagnosis) and if this was the path that God had ordained for us, we would walk it and He would be with us, of that I was absolutely certain.

At this visit, I truly felt like we should have reached the top or plateau where we could now make progress forward or rest.  Instead, we found we were only standing at the bottom of what appeared to be another endless climb, with the destination shrouded in uncertainty.  The words kept resounding through my mind, there was no known cure, nobody alive with this disorder (to his knowledge), all previous patients in his research had died either in utero or shortly after birth!  “Oh, Lord, at least if it was to be rare, could there not have been somebody else out there to connect with?”  My mind was truly racing at that point.  My prayers were going up like staccato bursts, as I sat trying to digest all of this information being leveled at me.  I had waited so long to know what was wrong with my little girl.  We had waded through early diagnoses like Leukemia, and had endured along with her all of the guinea pig process that must follow when the medical establishment is stumped as to what is really going on, only to arrive here?

One thing I know that every parent can relate to is the subjecting of your child to shots, blood tests and check-ups, by which you stand by helplessly while your child cries and holds out their hands pleading for you to make it stop.  Every parent knows that gut wrenching feeling and words that so quickly follow, “It’s ok honey, it will be alright, Mommy/Daddy is right here and we need to do this so they can make you better or so you won’t get sick.”  However, there are other groups of parents: Parents that know how hard it is when you can’t explain, because the child is too little to understand.  Some know the difficulties of having a child with a lengthy illness.  There are parents who have faced a misdiagnosis and ones that are acquainted with the challenges of battling an infirmity with treatments and medications to prolong life, but no cure.  Then there are those that experience having a child with a treatable lifelong condition on medications, no cure, no support and seemingly no hope.  Lastly, there are the parents that face all of that and these words, “According to the available research, there is no record of anybody else out there who has survived, no doctors who have treated a child beyond a couple of months after birth to consult with.  We do not have any idea what to expect.”  We were to be numbered in this group, a bereft group with seemingly nobody to relate to.

I left the endocrinologist’s office that day with the distinct impression of having been set adrift aimlessly in an ocean of uncertainty.  What do I do?  Where do I go?  What can I expect?  Will she die?  Will she end up in a wheelchair?  Will she pull out of it?  I had no markers, goals, focal point or information.  I had no one to talk to nor a plan of action to accomplish, just an endless horizon of impasse, as far as the eye could see.  This was no fault of the hospital or the doctors there.  They had gone above and beyond to do all that they could.  They really did not know where to go at that point, except try to deal with any symptoms as they appeared.  Visions of terrible sci-fi movies popped in my head.  What will the medical community do with a child that is the only one with this disorder?  We went along like this for almost three years.  I tried research – nothing – a tiny little snippet in the medical books.  I tried to look up information on the Internet.  I was so frustrated!  I eventually faced the inevitable, and became resigned to just live with things and move on.  However, that was not ultimately God’s plan.  All along He had a purpose that was certain and sure to take care of my daughter and magnify His name.

When my daughter started school, the effects of her disorder became increasingly troublesome to manage.  It took great effort for her to get up and down the bus steps, and she had difficulty physically keeping up with the other students in her class.  It became harder and harder to leave things status quo, and there was now an urgent need to get answers and some kind of treatment or recognition for assistance at school.  Parents of children with rare disorders and the schools that educate them have such an uphill battle, because these children fall through the cracks of all the categories and protocols.  I eventually turned to home schooling (about 2 years later) to resolve my dilemma, as the emotional and physical toll on my daughter became more than our family could bear.  During that period of turmoil while she was in school, however, I was at my wit’s end to know how to make the situation work.

At that time I was attending a ladies’ Bible study in my community.  When requests for prayers were taken, I shared my troubles and concerns with my supportive group of friends there.  The lady that was running our study concluded that we could not go on like this, and asked all attending to begin praying for a doctor.  I loved her response to my complicated pressures.  “Well, my dear, the answer is quite simple.  We must begin praying for a doctor who can help her.”  That was the most practical answer I had heard in the three years of dealing with this, and gave me the focus I needed.  Our situation turned around, and God began to work through a small group of praying women.  They offered what was like a cup of water in a thirsty desert: quiet support, fellowship and physical respite from the storms.

As the women started praying, I started hoping.  A couple of weeks after this, I decided to give the Internet one last try.  I had typed that familiar word in so many times and as my fingers hit the keyboard typing it out yet again, I kind of held my breath.   Would it hold something for us today, or would it be one more disappointment?  Hypophosphatasia – boom – up came a website in the United States! It was a website developed by a mother of a child with HPP.  I couldn’t believe it!  I remember just staring at the screen thinking, is this possible?  Is this really happening?  There is another child, another mother!  She had written personal anecdotes and had so much more information.  I will never forget picking up the phone and calling the number on the website.  But the most glorious words that I had ever heard were, “Oh my dear, you poor thing, there is a doctor, and he is here in the United States” (I was in Canada at the time).  She continued, “He is the only one in the world that we know of that researches this.”  I found out at that time, that she had HPP as well and that there were other children and adults.  We were not alone!!  The ladies’ prayers were being answered, and I now had hope, precious hope!

I remember thinking, well it’s great that we have found a doctor, but there is no way in the world that we would ever be able to afford to travel and see him or the medical costs!  It was like finally arriving at the prize, and it is so close you could touch it, but it is just out of reach.  Then she explained to me that if we called Dr. Michael Whyte at the Shriners’ Hospital in St. Louis, Missouri, that he would tell me how to arrange to go and see him for little to no cost to us, depending on the local Shriners’ support.  I could not believe my ears!  And you cannot imagine the flurry of excitement at my next ladies’ Bible study!  After that I found out about the MAGIC Foundation and about Shriners’ Hospitals and the work that they do for children with bone problems.  Shortly thereafter, we flew out of Canada to St. Louis to stay for a week in the Metabolic Research Unit at the hospital there.  Our local Shriners’ chapter paid for our expenses to fly, accommodations and meals to get us there and home again, and the hospital paid for the rest of our expenses for Dr. Whyte and team in St. Louis to work with my daughter.  It was a dream come true and the blessed answer to many, many prayers from so many people, more than we could have ever asked or hoped for.  We had been provided medical help, support, information and so much more.  God be praised!

My desire is that our story will give parents in the last “bereft” category I described, hope. We may be a very small group in number, but we certainly are not diminutive in voice, action or experience.  We are also long on compassion, encouragement and determination.  I have met some truly amazing people on this journey.  They may not be lawyers, doctors, advocates, researchers, writers, web page designers, educators, artists, or physical therapists to start with, but they become all of those things in some small way, and so much more, when they have a child with a very rare medical condition.  They have been through it all.  Don’t get me wrong, most parents of children with an illness become some of these things through the course of helping their child.  But the folks in this last category have to be pioneers in every way, because there is no foundation from which to build and no support from which to draw from.  You are it.  If there is any advertising, funds, research, awareness, education, plans, drug development, etc., it has to start with you, the doctors who are dealing with you, and our Great God who has determined to reveal the problem.  They have learned to advocate with health professionals, schools, community groups and backyard bullies.  We learn how to educate doctors, dentists, government departments and professionals from every field, who often come across that they know more than the parent, and sometimes need to be shown otherwise.  We have learned to become bearers of hope to the hopeless.

Parents in this last group have started organizations like NORD, the National Organization for Rare Disorders.  This is a unique federation of voluntary health organizations and individuals dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.  CORD is Canada’s national network for organizations representing all those with rare disorders.  CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders.  CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada.  NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.  These provide a unified effort by rare disease support groups, who were determined to solve the “orphan drug” dilemma.  Treatments for these disorders were not being developed by the pharmaceutical industry, because they were “drugs of limited commercial value.”  Consequently, voluntary health agencies and support groups banded together to urge passage of federal legislation that would encourage pharmaceutical companies to develop “orphan drugs.”  In 1983 when the Orphan Drug Act was enacted, NORD was formalized into a national non-profit, voluntary health agency dedicated to the welfare of people with rare disorders.

Unless you have walked in these shoes, you may not understand the incredible joy and sense of the saying, “it was all worth it,” and the pioneer mentality of foundation building.  There is nothing like hearing for the first time from a lonely, distressed parent, giving hem hope, because you have determined to not let anyone with this disease or disorder, go through what you have been through.  I’ve had the privilege of assisting  nurse from a remote clinic in the Yukon, a doctor from Japan, and a crying Mom from a local farm.   They come from remote parts of the world or from one it its greatest metropolises, to find your website, read your brochure, seek your phone call or email your support group.  In the pursuit of trying to get information into the locations parents may be looking, or caregivers involved in their case, you reach a point where all the calls, research and pavement pounding become rewarding.  A comforting parent sharing the load and grief, who points you in the right direction, has time and again proved to be a lifesaver.  It seems like so much to go through at the time and a mountain of work to surmount, but please let me encourage you: if God has called you to the task, then He will give you what you need and the motivation to do it.  He will place His desire and love in your heart, to see people helped and encouraged.  You will stand with the rest of us and say, “It was so worth it!”

We are not alone in our pioneer efforts and I have so many to be thankful for!  From those in the medical field, education, Moms with websites, dentists, orthodontists and their staff, community and county programs like Therapeutic Horseback riding, family, churches and praying friends, you make a difference!  Your perseverance, encouragement, tireless research, innovative programs and therapy change lives!  Your willingness to listen and let us participate in the decisions, being humble and admitting you don’t have all the answers, but you are confident to take this journey with us and not give up, means more than we can express.  You help sustain and give hope to countless children and families.  However, my greatest thanks goes to the Lord, who brought us to and through this journey, and to interact with many amazing people.  He knew what was best and that having a child with a rare disorder or any illness, not only changes your life and causes you to do things you never thought possible, it truly changes the world, both for the better!

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