A little over 19 years ago, I stood outside in the dark with Dr. Charles Weidmann, my friend Anne's dear friend and employer, and grieved with him over her death only hours earlier at the age of 30. Anne had gone in to repair an aneurysm, but once surgery began, they could not save her because her artery walls had the consistency of wet tissue paper and could not be repaired. An autopsy revealed this condition was prevalent throughout her body. I remember telling Dr. Weidmann that night that Anne's mother had died of mysterious circumstances years before, at a young age; her doctors unable to understand what had caused such massive internal injury, had diagnosed her death as "complications due to a fall". I also knew that Anne had had an aunt who had died as a young girl and another aunt who had died strangely, also as a young woman. An uncle had died as a young man as well.
Anne left a 29-year-old husband and three daughters: one 18 month old and infant twins, born prematurely and still in neo-natal ICU at one month old. If you've read my blog, you know all of this.
Shortly after, we had a diagnosis of a rare, hereditary genetic disease called Ehlers DanlosSyndrome. There are several types of this disease but Vascular Ehlers Danlos is fatal and it is the type that Anne had and that ran in her family. We held our breath as each of her children were tested for the disease since each of them had a 50/50 chance of inheriting it and we were joyful at the news that all three tested negative. The tests had left small scars on each of their arms and as they grew older and learned of their mother we would point to those scars and tell them that they represented the assurance that they would not die of the same thing.
Eight years later, I came home from a business trip and was met at the door by 8-year-old Christine who told me that Anne's brother, Uncle Deke (Donald Fallon), had just died. Donald was only 35. I remember my luggage fell from my grip onto the ground and I just stood there in shock. I was overcome by the loss of this dear man, a favorite of our family. He too had died of this horrible disease we now knew as vEDS. What I hadn't known at that time was that Donald too had been tested after his sister had died and he too had been given a negative finding. Which meant that the girls' tests were now unreliable.
Using the same tissue samples that had been used in the initial tests, the girls were evaluated again - without their knowledge - and we waited for the results. We worried about Christine as she seemed the most delicate of the girls and tried to prepare ourselves. She and Jennifer were fraternal twins so their genetic makeup was not the same; Jennifer was quite strong, healthy, and athletic. And while Amanda was at risk, she was Bob through and through. She looked just like him - somehow we had no fear about her.
Finally one morning while I was at work, I got a call from Dr. Weidmann's office. He wanted to see Bob and me. And I knew we were going to get bad news. My boss and dear friend, AlecLilburn, came into my office and prayed for us. He too knew something about genetic diseases as his son suffered from a difficult illness as well. I left right away and don't remember anything other than somehow Bob and I got together and were in Charles' office. He slowly explained that Amanda was fine but that this time the twins did test positive for Vascular Ehlers Danlos. Christine and Jennifer. At the time of the first test, they still did not know enough about the disease to develop an accurate testing method. There was no treatment and no cure. They were at risk of having arterial or organ rupture at any time, which would lead to death. We had to be careful with them. No sports. Careful lifestyle. Nothing taxing on their bodies. Avoid any kind of surgery. The average life expectancy at that time was about 40. Bob and I concentrated on trying to breathe.
We first went to see our Pastor. I don't remember what was said but we both knew we would find our support at the church. Then we went home and had the impossible task of looking at our 8 year old daughters, these beautiful girls, and acting as if the world had not just turned inside-out.
What I hadn't put together initially though was an odd thing that happened the two mornings prior and the morning of the date we got the news. I had opened my floppy, soft bound bible randomly to see what God "wanted me to see". For three days straight, it fell open to Luke 18. This parable talks of the power of persistent prayer and patience in receiving answer to prayer. When I put the this strong message together with the news we had heard, I knew my girls were going to be okay. I was still concerned, I still prayed, I still asked for prayer, I still cried and sometimes I was still scared. But I never spoke of the girls condition without stating that God had told me they were going to be okay. Because He did. I didn't know if it would be an all out miraculous recovery or a miracle of medical science in finding a treatment or cure - but I knew it was coming.
The 11 years since then have been up and down as we have watched the girls develop small symptoms of the disease. They learned of their condition 2 years ago and while both have taken it well, it has taken its toll. It is, and has been, a dark cloud that we have walked under for a long time. We have worked hard to do what we can. The Ehlers Danlos Syndrome Netork Cares charity was one of the 100 recipients of a $25,000 prize though the Chase Community Giving program on Facebook. We were one of 100 out of 500,000 competing charities. That was a miracle, indeed. We now compete against each other beginning the week of January 15th for $1,000,000. We are working 24/7 to prepare for that.
And then, just days ago, I received this:
Dr. Hal Dietz, Victor A. McKusick Professor of Medicine and Genetics, Institute of Genetic Medicine Investigator, Howard Hughes Medical Institute, Johns Hopkins School of Medicine, writes:
Vascular Ehlers-Danlos syndrome (or vascular EDS) is a disorder of the body’s connective tissue – the material between the cells that give the tissues form and strength. In vascular EDS the body lacks sufficient type III collagen, a molecule that contributes to the strength of the skin, intestines, uterus, and most importantly, the blood vessels. People with vascular EDS live with the knowledge that they will die from this condition at an age ranging from childhood to young adulthood. They are also told that there are no effective treatments. There are no medications that are known to strengthen the tissues or delay blood vessel rupture. Attempts at surgical repair are often delayed there is confidence that the patient will die within hours if nothing is tried. This is because the tissues are so weak that they often simply fall apart during surgery – akin to trying to sew together wet tissue paper. Of all the conditions that I care for, I hate this one the most. It not only drastically shortens the length of life, but also robs people of any meaningful sense of hope and quality of life – always anticipating that the shoe will drop at any moment. Indeed, all too often children with vascular EDS lose any sense of ambition and purpose despite truly remarkable talents and potential. To their mind, “Why bother “.
Fortunately, there is now strong reason for hope. During the study of related connective tissue disorders, specifically conditions called Marfan syndrome andLoeys-Dietz syndrome, we learned that many issues, including blood vessel enlargement and rupture, do not simply reflect an inherent weakness of the tissues due to a deficiency of the body’s glue. Instead, the deficiency of a connective tissue protein, as in vascular Ehlers-Danlos syndrome, triggers an increase in a specific cellular signaling pathway, causing the cells to behave abnormally and to release enzymes that break down the tissues. We have early evidence that the same process is at work in vascular EDS. In mouse models ofMarfan syndrome we have shown that a medication that is widely used for other purposes can blunt abnormal cellular behaviors and prevent blood vessel enlargement and rupture, leading to a fully normal lifespan. This medication is now in clinical trial in children with Marfan syndrome. It is now our goal and intention to make mouse models of vascular EDS in order to learn more about the condition and to test this and other therapies. If someone had suggested 5 years ago that a pill might be able to treat a connective tissue disorder, I would have considered them crazy. Given recent breakthroughs and sufficient resources for further research, I will be shocked if a revolutionary new treatment for vascular EDS is not in general use within 5 years. I have already begun to share this sense of optimism with children with vascular EDS. Our job is to bring this goal to fruition. Their job is to begin dreaming big.
And if that is not a miracle, I don't know what is. True to His word, my girls are going to be okay.
But I have known that for 11 years.
Okay this is the part where I get really, really honest with myself. To fortify myself, I got my hair cut. (See photo to left.) Seems stupid but most women will agree, they can see things differently and better when they look different and better. I don't know why that is - but it is. Thank you Lisette - I love the "new do". (No, not that kind of "new do".)
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