First I want to thank SheSpeaks for giving me this opportunity to plead for help and spread the word. When they say they really care for us, then not only mean it. They show it!
My fellow SheSpeaks peeps… I NEED YOUR HELP!
Please, please PLEASE go to this link and VOTE! VOTE! VOTE! Then SHARE on your pages and sites. SHARE! SHARE! SHARE!
WE ONLY HAVE ABOUT 24 HOURS LEFT! VOTING ENDS MIDNIGHT TOMORROW! (12am September 19, 2012, EST)All it takes is some cutting, pasting and clicking, Something I KNOW you ladies are masterful experts at.
The DBA Foundation has qualified for a unique and exciting opportunity! We are competing in the Chase Community Giving Program and have a chance to win between $10,000 - $250,000! Over $5 million will be awarded to the top 196 charities receiving the most votes during September 6-19. This amount of money would have a huge impact on our organization and the research we could fund!
There are 7,000 organizations we are competing against and the animal shelter ones all have celebrity endorsers. We just have the parents and patients dealing with DBA.
To understand more of what and who I am asking you to help with, I wrote about my daughter below, it turned out to be a heck of a lot more than I intended, but couldent seem to find anything I could edit out.
Diamond Blackfan Anemia is an orphan disease. “orphan disease” describe diseases that are neglected by doctors, but more specifically the term orphan disease is used to designate diseases that affect only small numbers of individuals (so-called health orphans).There is no satisfactory definition of an orphan disease. In the USA it is defined as one that affects fewer than 200 000 individuals. Well, DBA affects about 1,ooo… WORLD WIDE.
When my daughter was born, there was only ONE gene identified and it WAS'NT hers. The rarity of this orphan disease meant it was up to us DBA families as a community to raise funds and awareness for research into this disease. Today they have identified almost 10 genes and unlocked many mysteries behind those three little letters, DBA. Some that are even pointing towards a cure for cancer. Without the minimal research that has been done so far, it is NO DOUBT that my daughter would NOT be alive today
On the morning of April 23, 1999 my husband Joseph and I were joyfully preparing for the arrival of our sixth child, Kylie Jae. With four boys and one girl already, we were overjoyed to be giving our 11 month old daughter, TylerLee, a “built-in best friend”. Two little girls, so close in age who could grow up together, play together, obsess about pre-pubescent pop stars together. Sisters who could whisper secrets to each other when they should be sleeping, share clothes, friends and secret crushes…. Sadly those hopes and dreams came to a screeching halt as upon her arrival, it became painfully obvious that the usual “ten fingers, ten toes, happy healthy baby” scenario was not to be ours. Kylie was born in severe distress. She was never placed in my arms as her siblings were. My husband, Joe, was unable to cut her cord as he had with the others. She was, in fact, whisked away from us by a nurse whose smiling face turned to stone as she ran with my bundle to the nursery, not even having had the time to notify the staff she was coming. Within hours, our world turned upside down as she was transferred to a Lever II Trauma Center, with the doctors and technology capable of meeting the needs of such a critical newborn . I too left the hospital, discharged only hours after giving birth, so that we may be with our daughter because her expectations of survival were slim to none.
In the dead of night we were escorted through the hospitals empty halls by a nurse to the secure wing of the NICU. There we met with a doctor who spoke to us in hushed tones as he guided us to a corner of the room where there were met with massive amounts of machines, wires and iv tubing… there were flashing lights, beeping alarms and the “whoosh” of a ventilator and somewhere underneath it all, our tiny 5 pound baby girl, fighting for every second she lived. We were devastated, in shock and broken hearted. Words like “cardiac anomalies, cranio-facial defects, blood typing and cross matching” were thrown at us in quick succession. We were told to prepare for the worst and to pray for a miracle. We did both… and then some….
A year later and she was still in the hospital.. By now she was being transfused every two weeks, each transfusion depositing dangerous amounts of iron into every organ of her little body. She was also in congestive heart failure and unable to breathe on her own. She had a tracheotomy in her neck and a g-tube in her belly and was also suffering from bone marrow failure but no one knew why. We had dozens of diseases and syndromes thrown at us by dozens of doctors in no less than 5 hospitals.. Each possibility worse than the last. Doctor after doctor would just come to her room, stand by her bed and scratch their heads while we wept.
She was on no less than 15 medications and had dozens of doctors involved in her treatment and care. On the rare occasions she was well enough to be discharged home, she required 24 hour nursing care. But without fail, it was only a matter of days before she needed to be hospitalized again. She was even turned down for her desperately needed open heart surgery by the nation’s best pediatric cardiothoracic surgeons because she was just too sick to survive it. That painful blow was almost softened by the chance encounter with a geneticist associated with the surgical team. She approached us with what she thought and recommended we seek the consultation of a particular hematologist in Long Island who was researching a rare bone marrow failure disease.
While all the other doctors were looking at the strain on her body brought on by the heart defects as the cause of her anemia, she focused on the anemia itself. And she was right. We had Kylie transferred to a pediatric hospital in Long Island into this doctors care and within days she was finally, PROPERLY diagnosed with the world’s rarest bone marrow failure disease, Diamond Blackfan Anemia, that was unfortunately compounded by a plethora of devastating birth defects. Although each defect is a possibility with DBA, having all of them at once was unheard of.
Although still ventilator dependent doctors were able to stabilize her hemoglobin, repair her cleft palate and a few other surgeries on her stomach and intestines. Unable to go any further with her many other needed surgeries because of her poor health, Kylie was institutionalized in a long term care facility in New York where the staff there told us that there was no future for our daughter. They felt we should take her home, accept her fate and ours and let her pass from this world surrounded by her family.
We immediately had her transferred to another facility closer to home here in NJ where the staff offered us nothing but hope and encouragement. By the time Kylie was 4, she was walking and talking although with some difficulty. She had successfully had her heart defects repaired; and was finally learning to take food by mouth. She even had a surgery called a pollicization . Born without a thumb on her right hand Kylie needed to have her index finger transferred to where her thumb should have been, giving her full range and use of her right hand. Sadly, she was still transfused every two weeks, sometimes sooner and it was painfully obvious that Kylie was going to require a bone marrow transplant.
Because of the severity of her case her doctors were unwilling to consider transplant without a perfect sibling cord blood match but thankfully, because of our desire to have more children after Kylie, we were able to provide her just that. In 2001 I gave birth to Jordyn Lynn. And at the behest of her doctors, we saved her cord blood. In fact, we saved the cord blood of all 4 siblings born after Kylie, but only Jordyn was a match.
In 2003 we attempted transplant. To the shock and dismay of us all, after one dose of chemotherapy, Kylie went into liver failure and the transplant process was stopped. We were starting to lose hope and as we watched Kylie get sicker and sicker with no treatment options in sight, her doctors approached us with an opportunity to try an experimental stem cell transplant never before tested on a child, let alone a child with her disease. World renowned doctors from Boston, Long Island and Bethesda collaborated with international facilities in Canada and France to create a transplant regimen specific to Kylies needs and on May 5, 2005, Kylie successfully received her little sisters stem cells and a chance at a future free from the blood transfusions that were slowly killing her.
Even after her transplant, Kylie continues to struggle with medical issues and complications related to her disease. Mild learning disabilities as a result of stroked as an infant are not obvious except for in school and her curriculum has to be evaluated yeary to deal with these “nuances”. At 11 she was diagnosed with a fairly unusual type of spina bifida occulta and as a result suffers from chronic back pain. Random irregular heart rhythms limit her physical activities. With a iron-overload scarred and deformed pituitary gland that produces no growth hormone, Kylie will be unable to go into puberty on her own. She can’t gain weight, she can’t grow. At 13 she is merely 50 pounds and 50 inches tall. She has recently been diagnosed with Crones disease, but is that a result of years of exorbitant amounts of steroids, or even possible a side effect of the chemo from her transplant? We will never know… But the most daunting, and most pondered, is her bicuspid aortic valve. The reality is, that eventually Kylie will require an aortic valve replacement. But like the other issues we have dealt with, we will cross that bridge when we get to it. To this day Kylies health is never static. Her future, although VERY bright, does have a portion that is questionable. And for her sake, for her life, for HER FUTURE, I NEED you ALL to help me. Please, click on this link. Go to the Chase Giving site and VOTE FOR THE DIAMOND BLACKFAN ANEMIA FOUNDATION. We have been blessed with this once in a lifetime opportunity to win desperately needed money for research. But please, don’t stop there.. I NEED you to share this link on your page. Reach out.. FOR KYLIE!
If you reach out, and implore your friends to reach out, and on and on, you could help keep Kylie and all our DBA family alive.