Going Back

Today our wonderful pediatrician, Dr. Bob, called. He asked me if he could give my number to a Mom whose child has a new diagnosis of one of our most debilitating diseases....Ehlers-Danlos Syndrome.  He has now diagnosed several families with this because he is humble, listens, learns and acts. The medical world would be very different with more physicians like him.

This gal called me and it took me back. Back to the day Ed and I were told one of our sons had a "catastrophic" condition and it had been missed prior to his heart surgery. The doctor said his aorta was very dilated and there was a danger of dissection....and death. He also had a deformed heart valve. He said this in front of our 14 yr old son. I remember standing there not able to say a word. Our son's life would change forever that day. We walked out and I couldn't speak.....something unusual for me. Ed either. We walked in silence and so did our boy. It's a long story and I'll tell it another day. 

The Mom on the other end of the phone was in the midst of pure panic. Panic and confusion at new words, a new language, new doctors, a new future. That was what she spoke of again and again....."It isn't going away" she said. I said softly," I know, I know."  I told her the diagnosis of a chronic progressive disease is very different than a diagnosis of something like cancer which has an end.....be it good or bad. (I do not mean to be disrespectful and put levels of importance to diseases but to explain the difference.) The knowing your child will grow up and always live with a stalker is very painful, full of mourning.

Her perfect baby boy was now not perfect.

Again, very painful, full of mourning.....with different hopes, different worries.

I tried to share things that would give her some hope. But the hope I could share really has to do with how things are handled. A disease diagnosis can destroy you and bring out the worst in you or it can make you strong and resilient. It can tear your family apart or bring you together, learning a sick sense of humor! It really is a choice. But it isn't easy and it isn't over night.

That day, way back in 2004, when we were told about Ehlers-Danlos Syndrome was the real beginning of our medical circus. We had had some earlier starts, with our 10 yr old son being diagnosed with hard to control Type 1 Diabetes and having 6 shots a day, our 5 yr old daughter having a stroke then seizures and me having unexplained neuro problems.  But to actually have a diagnosis that involved the whole family was big. Yes, after we were told what our son had, we were informed the whole family, that would be 10 of us, had to be examined by the cardio-genetics team at Seattle Children's Hospital.

 Oh boy, I had a ton of time for that with 8 children and homeschooling!

Thankfully for us they are world class physicians. We found one more of our sons had a mildly dilated aorta and another sat at the 99th percentile.  We all had a connective tissue disease....all of us. I went through my days then in shock. Shock and disbelief. Emotions I learned later were part of the normal grieving process.

These brilliant guys also discovered what one of our little guys had that no one had been able to diagnose......a very, very rare metabolic disease. At the time he was 1 of 60 world wide. Most babies who had it didn't live. We knew something wasn't right but I am seriously thankful I didn't know that when he was little and in the hospital all the time.

Ehlers-Danlos has a wide range of presentations. It can be completely debilitating and life threatening to fairly mild. There is no way to know how the disease will progress for any given person. It has many symptoms and manifestations but the most difficult is the unrelenting pain. Pain that there is little relief from.

There are things to help this pain, things to help the kids learn to cope with the pain. We have been blessed with a fantastic team of Pain Specialists at Seattle Children's that have made a difference in our children's lives.  They have worked as a team on one of our sons and one of our daughters. They took our son from not playing or moving because of pain to playing, laughing and riding a bike again. They brought our daughter Mary from a wheelchair, in constant pain and disability to being in college and living life with the ability to laugh, smile and hide her many medical problems. We are so grateful to them.

These amazing physicians are anesthesiologists who have a special interest in pain relief in patients who are awake! I thought anesthesiologists only dealt with patients in the O.R. One in particular took our family under his care as our "air traffic controller" which is a significant job let me tell you! Dr. James Mooney ought to work for the CIA the way he can elicit answers from kids on pain and the emotional consequences. Our children never complain of pain because they've always had it, so getting an answer is really, really difficult. He arranged multiple specialties to be involved in their care as well as new treatments for pain that have been amazing for Mary. Lidocaine infusions have allowed her to be back in the world after a long absence.  Rheumatology docs took her from limping, then in a wheelchair to dancing again!  The meds they use and the treatments they prescribe cost an outrageous amount of money but Children's doesn't count that sort of cost, they care more about the cost to their young patients' lives.

One of the hardest things I had to tell this Mom was that this disease is mostly invisible. This is both a blessing and terrible. A blessing in that the struggle of people staring at an obvious deformity is not there but so difficult because it is easy to become invisible.

 Invisibility. There is nothing more painful. Nothing.

I wrote about this here The Princess and the Pain

If you deal with pain well and don't project it on to others, it is invisible. This is lovely for those around you but acutely painful for you. If you talk about it, complain about it, share, people walk away eventually. It is too heavy....we get that. It is just a lose/lose proposition if you are the patient.  It is the rare person who befriends someone who has a chronic illness with a lot of pain and disability. They are special people.  Friends

But there is hope. You learn who cares and who can hear about it and bear the burden with you. You don't make illness your focus but it is part of who you are.  It is a precarious balance. You learn.

We choose, in our family to look at the myriad of diseases we have as a blessing for some greater good. And we have seen plenty of good from them. We have hope and faith in God that we have been chosen for a reason. It's just sort of...the way it is. We say all the time that taking others down with us, "taking prisoners" so to speak, isn't going to take away the suffering. We want friends, we want family, we want to be happy in spite of this circus we live in.

This is what I tried to convey to that Mom today. She seemed relieved, thankful and she sighed in relief. It made my day to do something to slightly lighten her load.  I cannot do one thing to change what is coming for her 16 month old baby boy, her perfect little angel. I cannot do one thing to change what is coming for her and her husband. I can, though, be there to listen, to encourage when it all gets too heavy. 

I am thankful I got to speak with her today because after looking back to that beginning of our circus, I saw how far we have come on the journey. It is still hard, still heavy, still daunting. But it's familiar now. We know the system now, the language, the innate difficulties, even the blessings.

We know Who is in control after all.

~Blessings~

Lisa
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Here are some of my favorite websites if you have or know someone who has EDS

www.ednf.org

http://www.ehlersdanlosnetwork.org/

 http://csfinfo.org/research/csf-funded-research/csf-ehlers-danlos-syndrome-colloquium/clinical-presenation/

http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

https://www.facebook.com/pages/Ehlers-Danlos-Syndrome-Network-CARES-Foundation/107023919382477?fref=ts