I think I may have been lucky enough to create my own moment of breathless silence Monday when I completed my speech for Research Days: Focus on Rare Diseases.
I cannot share a video of my speech with you but I would like to share what I can.
Research Days Presentation
Slide 1
Good Afternoon. We are Chris and Gina Castelli, LillyAnna’s parents. She is two and a half years old. LillyAnna has a brother and sister who are both 5 years old. Yes, they are twins. LillyAnna has a disease called Pyoderma Gangrenosum. She is the 13th reported case in the world.
Slide 2
Chris and Nettie have a lot of questions about LillyAnna's disease. How did she get sick? When will she get better? Why do her boo boos hurt? Why does she have to get shots all the time? Can we get it? Will she die? But there are no answers… we have no answers for them. Modern Science has no answers for us.
Slide 3
LillyAnna has Idiopathic Infantile Pyoderma Gangrenosum. Pyoderma Gangrenosum is a rare but serious ulcerating skin disease that appears to be a disorder of the immune system. As I said, LillyAnna is the 13th reported case in the world in infants. Typically it is treated with high doses of steroids and the lesions take weeks to get under control. For LillyAnna it took months. I will give you a short history of her lesions and tell you where we are now. The next three slides show the progression of three of the worst lesions in the first two months of her disease. All told, she had approximately 30 lesions in that time.
Slide 4
When Lil was 9 months old I found a pimple on her leg and as a seasoned mom I popped it, put a band-aid on it and went on a business trip. About halfway through my trip, Chris called me and said, "Honey, I think you better come home and look at this." We took her to the pediatrician and they began treating it for MRSA but told us to go straight to the hospital if she developed a fever which she did in the next three days. The initial thought was that it was a spider bite but I will never forget Dr. Raab's face as he was practically running down the hall the next morning waving a paper in the air shouting "I got it! I got it!".
Slide 5
We had our own evidence it was not a spider bite at that point too. A second lesion had appeared on her side so unless that spider was in the overnight bag we knew this was no bite. Oral steroids were having no effect on the lesions like they had in the other cases and we had to switch to IV steroids. We were sent home after the first week hospitalized with IV steroids and within thirty six hours six new lesions appeared and grew into lesions the size of quarters. We were re-hospitalized and at this point a PICC line was needed for medications but also because LillyAnna was vomiting almost daily and not eating or drinking sufficiently, this pattern continues off and on to this day when her disease is active.
Slide 6
Any trauma to her skin like IV sticks or scratches caused a lesion but they would also pop up in random spots. The lesion at the PICC line site was the worst due to the high risk of infection. Her breathing also became an issue. She developed croupe and even now breathing is an issue when her disease is active.
Slide 7
These lesions caused intense pain, the dermatologists said the pain was worse than a burn. She needed morphine on top of other narcotic drugs to control it. Dressing changes occurred every other day and even though she was premedicated for those, I can still heat her screams. But through all of this, she learned to crawl and walk in this hospital, she also celebrated her first birthday here.
Slide 8
So what is LillyAnna's life like now?
Slide 9
She has her good days and her bad days.
On her good days she acts like any other three year old: sassy, fun, and stubborn.
She wants to put on her own shoes, button her own pants, pour her own drinks.
She wants to cuddle, she does not want her mommy to go to work and she loves chocolate!
She is the kind of little girl who wears a princess crown while wielding a light saber.
But on her bad days she is full of pain that she cannot describe. There is a lot of vomiting (we do not know why, tests have not been able to tell us anything), she says her legs hurt, she is tired, logy, has trouble breathing, has fevers, sometimes low grade, sometimes they spike up to 105 degrees.
There are no cycles, no rhyme or reason that I can find. Pain medicines help sometimes but, as it goes, have their own issues. What is hardest to deal with right now is not knowing. Just when we think we are safe Lil throws us a curve ball.
Slide 10
This past January her skin decided to do this for no reason at all. Spots flared up and were very painful within hours and then went away within hours.
Slide 11
She also develops blisters and ulcers on her lips and sores in her mouth which are very painful. They bleed and open up. It hurts for her to eat and drink.
Slide 12
I could show you a hundred pictures of swollen fingers and skin pustules. What I cannot really show you is a two and a half year old who cannot grasp a crayon due to swollen fingers or small boo boos that stay open and are sore far longer than they should be. A two and a half year old who has days when she just sits in her little lounge chair and watches movies all day while her brother and sister go out to play because she is in too much pain to play with them. Or the brother and sister who tell us her middle of the night vomiting wakes them up and worries them. She already has trouble sleeping on her bad days. These are the symptoms that make LillyAnna different from the other 12 cases. These new symptoms and the difficulty we are still having in controlling her disease.
Dr Raab is an amazing doctor but I do not like the fear I see in his eyes when we talk about how close we are to losing control of this disease again. At the failure of high dose steroids, remicade and a host of other drugs we are currently using humira and injectable methotrexate to keep that tenuous control. Most of you are well aware of the risks involved with these medications. Chris and I try very hard not to think about them but I would be lying if I said those risks do not keep us up at night. We have looked to Children’s Hospital of Philadelphia and Cincinnati Children’s Hospital for help and both have told us to stay right here at AI which made us very happy but also chips away at our hope for answers. We were invited to be patients at the National Institute of Health over a year and a half ago but are still waiting to hear from them.
There are so many things going on for Lil that we cannot see and even worse, that she does not have the words to tell us about. For most of the last year it has been her daily vomiting and lack of weight gain. But in the last year she also developed arthritis and bursitis. Dr Raab believes the disease stopped attacking her skin decided to start attacking her joints. He also firmly believes there are issues in her gut but tells me over and over that he does not know how to prove it. His frustration is palpable. So is mine. I cannot imagine how LillyAnna feels. But I know her strength because I experience it every day. Though LillyAnna may be little, she is fierce. And she needs our help in fighting this disease that is silently fighting its own battle in her tiny body. There may very well be other little ones suffering, other families asking the same questions we are.
Why is our baby sick? When will she get better? Why do her boo boos hurt sooo much? Can we get it? Will she die?
Thank you.
