The Nameless One

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Everyone who has child with a named disease or syndrome has had to go through some sort of undiagnosed journey. We all start at the same place...the beginning, which can feel more like the end. From the moment you see or sense something is not the way it should be is the moment it all begins. There is the waiting for test results and thoughts of a bleak future that engulf all of the senses. These feelings are the same between the diagnosed and undiagnosed and yet the difference is so clear. The difference happens when you reach that proverbial Y in the road. At the point of a diagnosis there is a path for you. It might not be the expected path and it is usually overgrown with uncertainty but it is a direction. Without a diagnosis none of those paths are yours. You are stuck and alone except for the very few other people who get stopped at the same place. Like the island of misfit toys, all that we have holding us together is our struggle. Nobody knows what to say because we just have a list of symptoms and no known cause. We lack that one term that could sum it all up providing clarity and validation...not necessarily a term that describes the state at which you exist on the giant spectrum of possibilities...but a term that says ok you belong here...here is what you can expect. More than just a support group, it's going to doctors' appointments and knowing where to start the dialogue. With a name there wouldn't be the judgment that comes with the term undiagnosed syndrome; that it isn't a real thing or  just something you made up. It's the explanation to friends and families or a new parent at the park who looks at you with questions. I once had a person say to me that a friend of hers saw my daughter and with an element of disgust asked what was wrong with her. Not only was this a very hurtful comment but made me want to hide my child because I didn't know what to tell people. I don't want anyone thinking and absolutely not telling me anything hurtful about my sweet and innocent little baby girl who I LOVE no matter what. In my mind, if I had only had a name, strength would follow. I would say it loudly ...This is the card we were dealt and we are going to play this better than anyone else. I seek the label that shouldn't hold people back but rather help them to progress forward. A road map of what we know but an open end of hope for a positive direction.

Every Step of the Way

A little different from my usual blog but felt this was too important not to share. When you find someone who makes such a difference in your life, it is important to share the wealth with others. Even if you live far away, this doctor is travel worthy. This is my opinion and I am in no way being compensated for this.

I am on my way to having seen what feels like every physician/specialist in the state of Washington. Several have been good, a few have been exceptional and one has been remarkable. 

I have never been the best patient and have tried to avoid doctors' offices all costs. So with my last two pregnancies I decided to go with a midwife. Our appointments were an hour long and it felt like a pregnant moms' playdate. My midwife and I, together would share in the excitement, emotions and physical aspects of pregnancy. I loved going and I love my midwife. Often, I wish I were still pregnant so I could keep going. I have complete faith in the homebirth/midwifery process and still do to this day. It scares me to think what would have happened if Ellie had been born in the hospital...would they have immediately taken her from me to run test? Those first few days of bonding were so special and important and already gone too quickly.

On "the day" that set into motion this diagnostic odyssey I knew however, I just had to get to a physician's office immediately. My midwife, whose opinion meant the truth to me, had always said how much she liked Woodcreek Pediatrics. I had called them in the past but dismissed them as an option because they were just too far. However, on that day when I needed to be seen asap, it was Woodcreek who got us in within the hour. A very nice pediatrician saw us and she referred us to their on-staff geneticist. I was so surprised to learn that they had a specialist like that in their office...like a hidden treasure for only few to find.  The next 24 hours seemed like forever but at 12:00pm we met our first miracle. Dr. Lawson Yuen was sweet and soft spoken from the start. She had the perfect temperament for a hysterical mom who thought her child's life was over. She was kind and patient. She took time examining Ellie and offered reasonable explanations for most of the anomalies we were reporting. At the end of our appointment we knew that only genetic testing could provide the answers we were seeking. We left more calm than when we arrived and for that brief moment in time, a sense of peace came over us. A reassuring vibe that this WILL be OK and we can hope for the best.

And now, almost a year later, Dr. Lawson Yuen has been with us every step of the way and proven to be so absolutely, amazingly wonderful.  She always spends so much time with us, never inches towards the door, is always listening and bless her heart, always tries to give us a glass half-full response.  She is thinking about my child which is more than I can ask for. It is so easy to feel like just another patient that is forgotten the second you leave. Without the help of a physician guiding you through this process you are so easily lost between the cracks. She is the light leading the way. She took our case and presented it to hundreds of geneticists for feedback. And then, emails me at 11:30pm to let me know how the conference is going and who she has talked to about Ellie. She stays current on the constantly changing world of genetics which is not always the case for some geneticists. She is very well-respected within her community and everytime I mention she is our physician to a specialist at Mary Bridge or Seattle Childrens, nothing but kind words are spoken as she is so highly regarded.  She never seems bothered when I ask her her thoughts on syndromes I find on the web or advice from other physicians. She answers our concerns at all hours of the day and night. She might be part-time at the office but I know she works overtime for us.

When you are seeing hundreds of physicians it's nice to have a trusted advisor to help you sort through all the opinions, weed through the unnecessary information and proceed with what really matters. Dr. Lawson Yuen hasn't given up on us. Even when it would be so easy to say "Sorry I don't know", she comes up with the next step to keep us pushing forward. She doesn't set the pace but allows us too. I love her so much for all that she has done for us. She has restored my faith in physicians; that there really are people who commit their lives to helping others. I suppose that this was something I was meant to learn.

It's easy to lose hope when you continue not to get answers. I have hope that if there is any possibility in finding answers, Dr. Lawson Yuen will point us in the right direction.

                                                    Dr. Amy Lawson Yuen

In the quiet hours...

In the quiet hours...

When I finally get a few moments of silence, I feel an unsettling nervousness. If I am not at an appointment or on the phone with a physician, then I am wasting the all too precious time. I am in a constant state of movement pacing back and forth and reflecting on this life that is our new normal. The memory of the way we were drifts further into the dark abyss as time moves forward. When will the anxiousness subside and when will the internal balance of focusing on the children equal the focusing on the child?

It has always been easier to turn away from sadness when it wasn't my child. Now I see the pain that families go through in all directions. Their lives consist of abrupt endings or a child's struggle to fit in amongst peers. I pray that no child must tragically journey down the road of uncertainty. I didn't want to feel that engulfing sadness. It is so difficult to read about and be one of those families; those special families that share the eternal bond of kindred spirits. Committed to the support of each other and built on a foundation of love and hope.

 I often hear this is the easy time and that when she is older will come a landslide of physical and social issues I have yet to see because she is still  "so young."  Is there really no other way? I am there watching the pain my daughter feels as we are seeking answers. I feel her every tear drop like needle a through my soul. I am there to hear every word that brings further disappointment. I am responsible for reciting to family and friends every bit of information received from every physician, therapist and parent I talk too. Maybe that's why I dread the question "so what seems to be going on with Ellie?" I always feel caught off guard with that question. How is it possible to rendered speechless when I have a novel of paperwork.

Even though there are days when I feel that the world is just overwhelmed with sadness, a sunny day appears and I walk this beautiful harbor and thank God for all the beauty that I am so privileged to see and I just wish.... that her stillness wouldn't alarm me, that her blank stares wouldn't worry me and that her future wouldn't scare me.

I know hope is in my genes but sometimes I feel like I am just a carrier.

Why it will NEVER be enough

If you are new to Ellie's Story, START HERE

So quietly swept under the surface of existence, this underground world of unknown fears is in fact our reality...

It has been 10 months now and it is still very hard for me to believe that my child's syndrome has been undiagnosed. I never knew this world existed. I always assumed that if there was something wrong, science knew what that something was. And if no one has found anything...maybe it's because there is nothing to find?

So I began to doubt myself. Was there anything to find? But I just knew that there was. After yet another test came back normal, a very distraught me said to one of our doctors, "I KNOW something is wrong even if your test isn't showing it." His response was, "Oh I agree with you Mrs. Wright, I see it too. But chances are we will never know what is causing this." I left feeling validated and defeated. How could he agree but not be hopeful?  After a few days I thought, maybe I do need to stop all of this. Maybe I should resolve myself to the fact that we will never know, so let's just deal with things as they come and treat them accordingly. Even some of our family seemed to believe, and still does, that things would just work themselves out. So why not remain hopeful? I did this for a short time and then realized that by living this way I was living a lie. I was in a constant state of stomach churning caused by what I knew I should believe and what I knew to be the truth. Somewhere within those 3 billion base pairs of DNA is written what is happening to my child and it was up to me to find it. For the past 8 months I had been living with an all consuming darkness that I had to compartmentalize allowing me to advocate as loudly as I could for my daughter. Any test available had to be done and any person who might have seen this before had to be reached. Maybe, if enough people hear about our story we will find an answer. There is strength in numbers.

So with the guidance of our pediatrician/geneticist, a Harvard graduate, we found a test that offered a extremely high probability for answers: exome sequencing. Immediately, we decided that this would be our next step. Shortly after publicizing our decision, I received an email that brought to my attention some concerns that I thought were valid enough for some clarification. In this email the following question was posed:  "As far as the genomic sequencing, even if they identify an area of abnormal genes, it is unlikely that they will be able to do anything about it. I understand (your) desire to know, but to what end?"  This was not the first time I have been asked when will enough be enough and surely not the last time. So let me answer this now.

I would like to say that I will stop pressing forward for answers when I start getting them, but the results of this test have the possibility to be so much bigger than just my child alone. If they were to identify an area of abnormal gene mutations that had not been previously discovered, my child would be recognized as the first person clinically diagnosed with this particular syndrome. In the case that Ellie is the first one diagnosed with xyz syndrome, the benefits would go beyond our own selfish desire to know. Watching how she grows; her signs and symptoms will help people understand what they can expect from this syndrome. Patients will get a prognosis which can be invaluable when you don't know what you are dealing with. How will we ever learn about new syndromes if we don't try and dig deeper? Think about a Down Syndrome diagnosis, it had to start somewhere.

 What if we learn that she is predisposed to having heart defects? We could possibly miss that at a routine doctors appointment. But if we knew that this was something that we should be watching for, then we could start monitoring her heart. We could take the necessary precautions to ensure her the best possible outcome.

Another concern that this test could address would be if she does have a known syndrome, but with atypical presentation, she could be missing out on possible treatment options currently available. If anyone were to take the time to look over all the symptoms related to a particular disease, one would see that not every sign is present in every person.

And what about the price? I recently spoke with our geneticist on this issue and she said that the price is not going to drop for at least 10 years and when it does it wont be as significant as commonly reported. It is too extensive of a test and too time consuming. Even if companies are producing faster sequencing machines, specialists still need to be trained to decode the information. If I were buying a new TV, I would wait for the sale price. But for my child's health, everyday waiting for answers is too long.

I realize there is a chance that this is not fixable or diagnosable and that we will remain just as helpless as before. But even if there was a slim chance to make a positive difference in her life, I would do EXACTLY what I am doing now because I am her mother and this is in the job description. We speak up for the ones we love and never give up. So when asked when will enough be enough; NEVER. Because the benefits of results outweigh the "hassle"of  trying.

That Special Room

When I was younger, all that I knew about kids who were "different" was to not stare. We were never told anything about them or what made them different. We were just supposed to pretend like a difference wasn't even there. Is this where our ignorance for what is different and the fear of the unknown began?

I always thought of people who had special needs were living in a parallel world to ours. It was like they were in a room with only one door but several windows that would allow you a view in with little consequence. You would walk by the outside and try not to look in but curiosity always got the best of you. Inside you would see the families and children who had to struggle more with life. A sense of overwhelming sadness would come over you so you would walk as quickly away from the window as possible bearing an artificial smile to all who may have seen you and thank God that it wasn't you in there. Seconds later, that feeling of sadness is gone and the room with the door is forgotten.

And then one day, without realizing how it happened, you find yourself inside that room.

The door is a one way door and you are unable to get out.  You can kick, scream and throw your body against the door but, it will not budge. It is concrete. With careful hesitation, you look over your shoulder to get a glimpse of what is in here and fall helplessly to the floor. You are so scared of the unknown and you feel all alone in this crowded room.

After awhile, you begin to inch your way around the perimeter of the room. Over near the windows there is a very soft light. Your family and friends are there waiting very anxiously to talk with you. And you want to talk to them. They are familiar, they have always understood. They want to reassure you that everything is OK but, they don't know what to say and they are uncomfortable. Apprehensive to ask questions and nervous to look around. They can visit through the windows but they can never stay. And you can hope as they do that soon everything will just fix itself  but, if you keep believing that, if you keep holding on, you will never venture away from that door. You will never get to meet the remarkable people inside the room who all got here the same way you did. It was sudden and unexpected and they felt scared and alone. But together, with this new extension of family, we are not alone.

So often I hear that we should hope for the best, which implies that staying here is the worst. It's not the worst... as long as you have your baby in your arms.  If you really think about it, it doesn't sound too bad being labeled as special in a world full of ordinary. Perhaps one day, I will be more comfortable here and I will see the blessings this room has to offer our family and what we may be able to give back. I wish I could say that now. But not yet...not today.


If you are new to the blog you, start HERE from the beginning.

WE HAVE HOPE!!!!!!!!!!!!!!!!!!!!!

Is medical science beginning to catch up with Ellie???

                                    www.giveforward.com/angelsforellie 

Just recently on January 19, 2012, an article came out announcing that Ambry Genetics, a global leader in genetic services with a focus on clinical diagnostics and genomics, the successful completion of the first three diagnostic cases using its proprietary Clinical Diagnostic Exome™.  Three individuals suffering from symptoms for which the cause could not be identified were successfully diagnosed. “This marks a pivotal moment for clinical diagnostics,” said Charles Dunlop, chief executive officer of Ambry Genetics. “A full diagnostic exome test with a high percentage of diagnosis is potentially a game changer for how clinicians approach diagnostics.  Some of these families have been trying to figure out what was ailing their children for years, and we solved the riddle in weeks.

This is a portion of the email I received from our geneticist on Friday night at 11:30pm!!! Not only do we have THE BEST doctor in the world to take time away from her family to email us but we have hope for answers. Not only would the test results help other families in the same position but there are some amazing drugs that could potentially fix things. We have set up a fundraiser to seek help paying for this super duper expensive whole exome sequencing test. We are so grateful for any support in funding and promoting our cause. There is no donation too small!  THANK YOU THANK YOU THANK YOU for everyone who has in interest in our story. The love from people has been such a blessing during this time of hardship.

Angels for Ellie

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If you haven't already read Ellie's story, start HERE at the beginning.

Is a negative a positive?

One of the weirdest feelings that I can try and explain is the wanting of a positive test result. On the outside, it sounds horrible. Why would any parent want to hear that their child has something potentially life altering? It sounds crazy even saying it out loud. As parents, we devote our lives to the safety and protection of our children. We run them into the doctors for every little concern we have, just to hear that we are doing everything a good and diligent mother should be doing. We seek to be validated on the choices we are making. But as a parent, you know when something is really wrong and you get worried. So why on earth would we want to hear anything other than everything is going to be fine?

When we were awaiting test results for Retts syndrome, our neurologist ordered an MRI. When the MRI test results came back normal, I wasn't surprised. Every test had come back normal and not providing any new information. It was just another test that I had put my baby through. My mom asked if she could be happy? I thought, what a funny question but I knew where it came from. A loving mom who is trying to watch her words around an ultra-sensitive daughter. I told her, yes of course...feel however you want to feel but allow me the same. My immediate reaction to this phone call was "now what?" not "oh I am so happy," but rather what is our next step. I felt slightly happy but mostly sad. Sad that the vicious cycle of ideas is not yet over. Getting a name, looking it up, crying, convincing myself that she does AND doesn't have it...waiting 2-8 weeks and hearing that everything is normal. With a name...that cycle stops. Not that things will miraculously get better, but we can move forward faster. No more blood tests and no more weekly doctors appointments.  I am not scared to hear what they tell me. I already know something isn't the way it should be. I am more scared that they have nothing to tell me at all. I know this may be hard to understand but the truth is that not having a name doesn't make it any less real and having a name doesn't change if she has it or not.