Love, Life and LillyAnna: From the Mixed Up Files of Mrs. Basil E. Frankweiler

Friday, June 13, 2014

From the Mixed Up Files of Mrs. Basil E. Frankweiler

When life hands you lemons make lemonade. God does not give you anything you cannot handle. What does not kill you only makes you stronger. Trust in God. And on and on and on....

I have heard and told myself these and so many other words of encouragement in the last two years and although LillyAnna herself does not have much to celebrate, there are some things for us to hold onto right now. Some things that when she is in pain, which she has been a lot this week, I can say to myself "at least there is ____". That is more than I have been able to say for the last two years.

I would be remiss if I did not thank the two wonderful people from AI who gave us the opportunity to give the presentation from my last post. That presentation has brought us many of the gifts of hope we have right now.

At that presentation, in the audience was a liaison who works for Nemours’ National Office in Washington, DC and is the Senior Manager of Advocacy. She was so touched by our story that she contacted me immediately after the presentation and began work on bridging whatever gap there is between us, Nemours and the National Institute of Health. If you remember, LillyAnna was invited to be a patient there a year and a half ago but we still have not been seen. This is a long shot anyway because the research they are doing is on Pyoderma Gangrenosum and technically LillyAnna has Idiopathic Infantile Pyoderma Gangrenosum. To us this does not sound like a significant difference but when you are talking about grant money, it is and so we wait. But now we have some pretty important people trying to get us on the fast track.

It turns out the House of Representatives is interested in helping families of children with rare diseases. How about that! I was asked to write to them and discuss our experience and how the government can be more helpful to us and families like us. Our support group was quite a resource in this instance as I was able to call in the troops and choose a few of them based on their disease and experience to write for us also. She mentioned possibly speaking to the House of Representatives also... can you imagine? Like I said, this does not directly help Lil at this time but it certainly makes me feel like I am doing something for her and I feel slightly less helpless.

Then my mother in law sent that same presentation to her family (just because she was so proud-isn't she sweet?) and her cousin who is a doctor was so touched he sent it to some doctors he knows who are actually doing research on PG. They are showing A LOT of interest in LillyAnna. I have been emailing and talking on the phone with them multiple times a day trying to get things ironed out all week. This is EXACTLY what we have been waiting for! This is the answer to so many prayers. They want her. They are dying to get their hands on her. It has taken all week for us to get her records and slides up to them (they are in NY) but it is up there now and we are waiting for the slides to actually get into their hands and for them to confirm the diagnosis then decide what they want to do next. It is just unimaginable to me. I have no idea what this will look like.

So what has all of this looked like for us as a family? It has been extremely stressful for me. My migraines are off the charts but we have also been embraced by a wonderful community at our pool. Yes...the pool! The Graylyn Gators are just about savings our emotional lives right now. Every day we go and we swim and we are loved and cared for and the kids are taken care of by one big, huge family. They have their hospital community and they had their school community but with the stress of having a sick baby sister they need something more and this has been just perfect. I wish the people there knew what they meant to us but there is no explaining it. There is no explaining that my kids have been able to talk about the pain of losing their friend Lucy more this past week than they ever have before and I think it is because of the pool. And there is no explaining that Nettie has been asking me more questions about Lil's illness than I have ever heard her ask and I think it is because of the relationships she is building with the coaches. Or that Chris has not been in time out all week and I think it is because of the strong friendships and the safety he feels with his new friends Spencer, Isabelle, Declan and Riley. And the pride I saw when he said about a new toy, "I want an alligator Mom because I am a Graylyn Gator."

These are all beautiful things but unfortunately Lil has not had a very good week. After about a two week hiatus, her vomiting has resumed in full force. She has been having headaches for about two months and I mentioned it to Dr. R in passing. Apparently it is a bigger deal than I thought. He referred us to a ophthalmologist. A side effect of one of the meds she is on is fluid in her brain or swelling or something. The good thing is that she has 20/20 vision and is showing no signs of inflammation. However, the ophthalmologist is recommending an MRI of her brain. We will see what Dr. R has to say about that. Lil has also had a lot of pain this week. She is getting so much better at telling us about her pain. It helps a lot but it is also so sad. It is hard to see her point to the spots that hurt and there are so many. Today was a much better day than the rest of the week though and she finally opened up in the pool and was swimming like a fish! It was so much fun to watch! Hopefully now that the rain is moving out her pain will move out with it.
Better days to come:)

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History

On June 19, 2012 we found a small pustule on our
daughter LillyAnna’s thigh. At the time,
she was nine months old. Until this time, she was a healthy baby who ate well and gained weight appropriately. She was also the happiest baby I have ever seen. Even though she was breastfed, she began sleeping through the night at six weeks and almost never cried. She was an absolute dream come true! Within a week there was a lesion about three inches in diameter that went down to her muscle. It was extremely painful. Later we were told that the pain was much worse than that of a burn but she still almost never cried. As per our regular pediatrician, we were treating her for MRSA. We were told to take her to the
Emergency Department if she developed a fever.
Ten days after the initial pustule, she developed a fever and we were admitted to the hospital. It took 24 hours to diagnose her condition as Pyoderma Gangrenosum. Those initial days were the scariest days of my life. Pyoderma Gangrenosum is
associated with adults who suffer from Crohn’s disease, rheumatoid arthritis and a few other auto-inflammatory diseases.
However, LillyAnna’s is only the 17th reported case in
infants in the world. Most of these infants responded to oral steroids and then are sometimes followed up with another maintenance medication successfully. These other infants were not followed past two years although we did find one who was followed for five years with no recurrences. LillyAnna does not follow that same
path. During the first week in the hospital, she developed another large lesion on the side of her abdomen and a few other small ones on her limbs. In total, she had 30 lesions during the first 2 months of her disease. We were forced to insert a PICC line. The PICC
line was necessary because she was refusing to drink or eat and she was on IV steroids. We also had a lot of trouble
keeping an IV line secure. Every time there was trauma to her skin, she developed a new lesion therefore we could not
use the standard methods for keeping an IV or PICC secure. We could not use any tape or even band-aids. Every time there was trauma to her skin it turned into a lesion. The
lesions were growing out of control and they grew very quickly. Watching our baby’s skin deteriorate so quickly was one of the most terrifying things I have ever experienced.
It was so difficult to control her pain. Because LillyAnna
was always a happy and vivacious baby who almost never cried or fussed, it was difficult to tell when she was in pain.
Even with all of this going on, she was pleasant as long as we controlled her pain. It was evident that she was in
constant pain even with morphine every four hours and oxycodone for breakthrough pain. It was difficult to
hold her and sooth her because she had so many lesions.
Finally the growth started to slow and we were sent home from the hospital about a week after our first admission with a PICC line and oral steroids. Unfortunately, in the thirty six hours we
were home, LillyAnna developed six new lesions that were about the size of a quarter on her limbs. We were readmitted
to the hospital where we stayed for the next two months. LillyAnna celebrated her first birthday in a
hospital conference room. It was
actually awesome. The hospital helped us
organize it and it was a blast. We immediately began using IV steroids again and added some other medications that
are meant to lower the immune system in an attempt to stop the remarkably fast growth of the lesions. In our first week
back, she had developed lesions on her face, scalp, and diaper area and most painfully at the PICC insertion site.
Every other day we had to change her dressings which took
sometimes over an hour. These procedures were extremely painful for her although the hospital did a wonderful job of
trying to make her more comfortable by premedicating her, using very special bandages and trying to distract her as much as possible. Although, even with all of that, it was
horrible for her and she would scream the entire time. In total she had about thirty lesions. This is a time in my life that I have to block out of my memory. No mother can hold down her screaming infant while doctors and nurses peel bandages off of her totally exposed muscle and be a whole person again. Finally we tried a treatment called Remicade. While
receiving this treatment, we were able to begin weaning her from the steroids and by the time we left the hospital she no longer needed the PICC line and was taking all of her medications orally.
Her eating and drinking were not totally were they needed to be but she was improving. It was during this admission that the vomiting began. I started to notice that the days when LillyAnna’s lesions were particularly sore, she would vomit before bed.
We were discharged from the hospital on Remicade treatments
and a plethora of other oral medications in late August of 2012. I was unable to work as her care took up the
majority of our day and we were at the hospital two or three times a week sometimes for a whole day.
Soon, I began to notice that LillyAnna was having some of
the reactions to the Remicade that we had been warned may happen when a child has an adverse reaction the first couple of infusions. She would get extremely fussy, had rashes on
her face and trunk, and was very flushed.When we went home, she seemed ok. However, we were supposed to be lengthening the time between Remicade infusions and we could not. Her symptoms would begin to worsen after two weeks and we would have to infuse again instead of waiting longer. When we would wean the steroids, she was uncomfortable and the symptoms were just getting worse. She began vomiting each night and
not eating or drinking again, she was very fussy all of the time and her lesions looked red, sore and like they were growing larger instead of healing.

Finally we had to readmit her to the hospital in November of
2012. There we found out that she was
building antibodies to the Remicade; that is why it was losing its
effectiveness and we were seeing a resurgence of symptoms. She most likely will never be able to use Remicade again. At this time we were faced with many decisions and LillyAnna was taking her first steps. We needed to find out why she was refusing to
eat and drink because it was such a problem that she was dehydrated and losing weight. Along with the advice of her doctor, we decided to scope her entire
digestive tract. This is something we had avoided in the past because of the fear that we would cause lesions to develop on the inside by causing trauma.

However, at this point it was necessary. The scope did not show
us much. There were some parts of her intestines that the doctors could not reach because they were too small even though we were at a reputable children’s hospital. Other than that, they did not see much. There were small signs of what could be Crohn’s Disease but because she was already being treated with the medications that are used to treat Crohn’s, this was non-conclusive. What they saw could also be signs of a
virus. We also did a modified barium swallow study which again was not very helpful. It showed that she had reflux which we already knew and can be caused by some of the medications she is on and some slow stomach emptying. However, she is now on the highest dose of a medication to treat slow stomach emptying and it has not helped. This is one reason we are pursuing a second opinion with our doctor’s support.
Keeping her safe causes us a lot of anxiety; we cannot keep her in a bubble but it is terrifying to think of the
sicknesses she could contract. We work hard to keep the house extra clean which is not easy because LillyAnna shares this space with her twin siblings. We keep hand sanitizer around and remind all visitors to use it often. This also means that she could not
go to daycare or school which had been a problem for us but she has since started Kindergarten. She just stays home when it is a bad day. I had to resign from my full time teaching job. There are so many expenses in a situation
like ours. They are things that Medicaid does not cover, things that you might not even think about. For example, sometimes I have to take LillyAnna’s temperature twice a day.
To keep that sanitary, we need alcohol wipes and Vaseline. The expense for over the counter medications adds up also. We have narcotics for when her pain is very bad but we always use Advil first. She gets a lot of Advil. Other seemingly innocuous stuff are things like the extra laundry detergent we need to properly clean her clothes, sheets, and pads after she vomits and the hot water.
Or the extra cleaning supplies we use to make sure the house is as germ free as possible. These are just a few examples of things that can quickly add up. LillyAnna is being followed by the National Institute of Health and even at that world renowned facility
she is considered extraordinary. There is only one case they have seen in an adult (which is only remotely related to her disease) that even comes close to resembling her disease. LillyAnna has been suffering day in and day out for years with this disease.I worked part time for awhile but now work full time with the help of an amazing Nanny. We are doing the
best we can but the strain of years of this is starting to wear on us. LillyAnn is such a happy little girl. Most days if you met her you would not know anything is wrong with her. People are
always saying, “But she looks so good!” The doctors have told us that she does not know what it is like not to
be in pain because she has lived with pain so much of her life so unless the pain is just excruciating, she is going to act like everything is fine. It is heart-wrenching. And I know this to be true because when we get home she will just sit for hours or limp around the room or on a bad day lay in my lap and cry.

LillyAnna is an inspiration to me. She embraces life to the fullest even with the intense pain she lives in, not being able to go to school and very often feeling far more exhausted than any child should. She loves to go to the zoo and observe the slow movements of the animals, especially the reptiles! She really loves to be read to all snuggled up with me or her dad and her brother and sister. Coloring is one her favorites too when her fingers are not too swollen to grasp the crayon. And when she is eating chocolate and spaghetti are her favorite foods, she is even pretty good at helping me roll meatballs. We have no prognosis for
LillyAnna. We do not know what the future holds for her. We take every day and enjoy it to the fullest. We try to soak up her zest for life and just love her.

Love, Life and LillyAnna

Friday, June 13, 2014

From the Mixed Up Files of Mrs. Basil E. Frankweiler

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Down the Shore

LillyAnna in her Favorite Place