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.