Tales of the Peculiar

There are moments in time that stick with you.  As Lil and I sat snuggling in a waiting room at the NIH dozing off in a rare moment of silence (when in fact we were missing an appointment), a caring worker came over and laid a warmed blanket over the both of us.  I looked up and began to thank her profusely.  My husband, knowing me well, said, "You are crying aren't you? Just enjoy it."  She saw the tears streaming down my face, smiled and walked away.  I sat back and told myself to do just that... enjoy the warmth of the blanket, the feeling that someone did something so thoughtful, and that brief moment of silence in a day of chaos.  

Lately most people have been saying that they are assuming Lil is doing well because I have not been posting much on Facebook.  There are a few reasons I have not.  One is that I have spent the last year redefining myself and in turn her.  As the years have progressed, our lives have been less and less defined by Lil's disease and diagnosis.  That does not mean her daily life is not affected by it and in turn the daily lives of her immediate family.  One way I dealt with this was to start the Love, Life and LillyAnna Facebook page so that her updates are separate from my own.  However, it is taking awhile for people to catch up:). Another is that I am now working full time and Lil is going to school.... Kindergarten, so we have our lives to focus on and not just illness; which is wonderful.  Yet another is that we just simply do not focus on it as much, we focus on living life to the fullest.  Sometimes that is easy and sometimes it is really, really hard.

Lil has what is called an Invisible Disease.  She looks completely normal most days.  She acts completely normal most days.  But she is far from normal.  This makes living this life that much more difficult.  It is the rare person who can truly understand what our life is truly like.  The people that live that life with us get it... they see how she is up multiple times a night in pain, they see how she hobbles down the stairs in the morning like a 90 year old instead of a 6 year old.  They see the days she cannot get off the couch.  They see everything in between.  Her school is wonderfully understanding.  Her nanny is an integral part of our lives. But yes, this little girl struggles every day.

In fact, it was so interesting going to the NIH.  We were able to evaluate how Lil is doing compared to two years ago in a more formal way.  It is funny to me how everyone thinks she is doing so much better but I think she is doing worse and so does her hospitalist.  When we compared our notes from two years ago to now, the NIH said she is doing worse and gave reasons why.  I think the change is that we have learned how to live this life.  That is something I never thought would happen.  People used to say things like 'this too shall pass.' It would make me so sad.  I thought, "not this, it is never going away."  And to an extent, I am right, it is not going away.  But it has passed in the sense that we are a different family now and we know better how to navigate what it means to live with Lil's disease.  I mean, there was a time I never thought I would be able to work full time again and look at me- building a career!  When we evaluated how she was doing, it was clear that 2 years ago she was doing better than she is not, clinically.  She is having more fevers and they are higher.  She is having more pain and it is affecting her more.  When you see her, she is pushing through.  She is pushing as hard as she can to look like and feel like a normal kid.

That leaves us with the question of why Lil is getting worse instead of better.  In every other case of Infantile Idiopathic Pyoderma Gangrenosum, the baby has gone on a steroid or a steroid and then Remicade and gotten better.  Lil is the only one that has not.

I do not totally understand what the NIH was telling us but they found a gene variant that is unique to her out of their pool of 200,000 applicants.  There is a possibility that Lil may have a brand new disease- something no one has ever seen.  After reflecting on this information, I remembered that years ago someone told us about that possibility.  The NIH wants us to come back and bring the twins.  They will draw blood from them.  If they have the same gene variant, we have to start from square one.  If they do not, we may have found that brand new disease.

So the twins have to consent to have their blood drawn and be a part of the study; which they have to us but they will have to sit in that little room, sign their own names on pages of paper work (it is like buying a house!) and be treated like little adults.  I think they are both excited for their own reasons to be a part of this process.  It is a helpless feeling for us all to watch Lil live this life day in and day out.

How does this help Lil?  Her lesions are not being controlled.  They are starting to attack the tissue inside of her mouth and who knows where else.  In fact, we came home and two nasty lesions showed up behind the two teeth that are growing in right now.  She says they do not hurt but they look nasty.  She is still complaining of pain often.  They think (from where she was describing the pain) that it could be something in addition to the arthritis we already know she has and is being controlled (at least this is how I understand it).  They are doing to do an MRI (in addition to the DEXA scan and chest CT they did this time) to see what could be causing the pain.

Watching that doctor go over my baby's skin with a fine tooth comb felt so good.  That is how I look at her.  This doc, the one I call The Angel Doc, knows this disease inside and out. It is an indescribable connection. The funny thing about the NIH is that I never know when they are going to pay attention to us and when they are not.  Right now they are paying attention.  Whenever the docs pay attention to Lil, I get nervous. I should say extra nervous.

Until we figure this all out, we are just doing the best we can with what we have.  Medicaid is trying to get us a robot that will go to school for Lil on the days that she cannot go.  It is a pretty cool program.  Our only concern is that she goes to Montessori school which is very hands on.  But her school is amazing (Montessori Learning Center) and is totally willing to work with us.  What I wanted them to do is give us financial assistance for some of Lil's care.  It costs us an astronomical amount a month.  We fit into a weird category.  We do not require nursing care but we do require more care than a typical child.  Medicaid is finally catching up with this group of kids and just created a patient care coordinator for families like us; in fact, I think we were her first case.

The idea of having a brand new disease kind of puts me in a tailspin.  It brings me back to years ago.  In fact, the whole visit to the NIH did.  It made me reflect on where we are and on how far we have come.  I mentioned earlier in this post that I never thought we would be here.  There was a time I thought that because Lil would always have this disease it meant that our lives would always be the same.  I was right in that Lil's disease is a constant.  It affects our lives every day and it affects all of us albeit in different ways.  However, we are growing and changing with it.  I went to dinner with friends.  I WENT TO DINNER WITH FRIENDS.  Two years ago I would have said that was impossible.  I would have said I could not.  We have been spending time at my father in law's shore house.  While there, I actually lay on the couch and snuggle with my kids.  Two weeks ago I would have said I could not.  I have committed to better nutrition for myself.  It was not an easy commitment.  Four months ago I said, "I cannot." I do not often talk about my constant and chronic migraine pain.  But I have committed to taking care of myself in that way and I actually exercised (for 5 minutes!) the other day for the first time since Lil got sick.  Do these things sound silly to you?  They should.  I have convinced myself that they were impossible for the past 5 years.  They may not seem big to you but they are HUGE to me.  We are redefining ourselves for sure.  It is beautiful and horrible all at the same time.  I could not do it without my tribe (you know who you are) and my friends who take the time to love us and understand us.  My tribe is teaching me that I can live life to the fullest and it does not have to compromise Lil or her care; that loving life actually enhances it. My tribe is teaching me that I can move on with my life.  My tribe is teaching me it is okay to be a leader.  My tribe is teaching me it is okay to be weak. We are growing alright.  I can't say I would not have life any other way.  My baby lives her life in pain.  It is debilitating pain. But it is cool to see the family into which we are blossoming....

If a T Rex Crashes Your Birthday Party

My Dearest Lilly,

You are turning 6.  I might say this every time you have a birthday.  I am not sure but since this is my letter I am going to say it again. There was a time in your life we were not sure you would make it to this point.  Every birthday of yours is a true celebration of life.  The way you soak up every minute of it; the cards, the phone calls, the Happy Birthdays, the parties, the gifts, the family and friends that surround you shows your true spirit.  Having people around you that you love and having a good time are what this year has been all about for you.  When your pain or disease gets in the way of this, you get pissed.  This is new for you.  In past years you would lay on the couch quietly when you did not feel good.  However, the older you get it is like you are angry that you are sick while everyone around you gets to play.
There are a lot of people playing around you.  This year you went to school for the first time.  It was preschool and Montessori Learning Center. You only made it to about 1/3 of the year.  You were in the hospital three times for various illnesses.  I don't know if it was because we started getting the vaccines we could or if it is because you went to school or if it is because you just had a bad year.

We will see what this year brings but we have Julie so I know we will be okay.
Julie... what to say about Julie.  She is your best friend.  She keeps our household together.  She makes it possible for me to work.  She comes in every day with a smile no matter what is going on in her life (that is true professionalism by the way, learn from that).
This year you also made some friends at school.  But one of the best things to happen, and it happened recently, is that we got some new neighbors.  Maggie is becoming one of your best friends and it is so much fun to finally see you have a friend that is your age.


This year you tried to learn how to ride your bike without training wheels but when that did not go so well and you realized you could not keep up with everyone else you asked for your training wheels back!  This sums up your year.  You want to keep up with everyone else.  Your spunk continues to amaze us but the temper tantrums are an issue.  Dr. R says they go hand in hand. He said once that you are the most stubborn kid he has ever met.  That is saying a lot. But he also said that stubbornness serves you well.
You love playing with your dolls, you LOVE your hatcnhimal, and you really love Peppa Pig.  We have watched every episode of Peppa Pig so many times that Julie and I could repeat every line.  You also have probably every Peppa Pig toy there is (not really!).  You actually play with them a lot though.  You also really love your American Girl dolls.  I watch you be a doctor to them and do all of the things that

We also found another baby this year who has Idiopathic Infantile Pyoderma Gangrenosum.  The 19th case we know of in the world.  I am beyond excited.  You had a strange look in your eye when I told you.  I don't know how much you understand about your disease.  I worry that we, and in turn you, define you by this disease instead of by who you are: an energetic, smart, loving, six year old who loves her friends and family with all her heart.  Of course, that baby is on remicade and getting better just like the rest and unlike you.
You love to go to school but are so cautious about it.  It makes me sad.  I know you are afraid you will not feel good during the day and are not sure how that will look or what to do.  Your teachers are amazing.  I need you to know that but you need to know that too.  They even set up a rest area in your classroom.

LillyAnna, watching you grow up has been one of the most amazing things I have gotten to experience in my life. You are constantly underestimated by doctors and therapists.  This is new territory to us.  We are used to Dr. R who knows you, nurses who know you... when we are confronted with someone who says, "yes, I looked at her file." with a straight face, something is wrong.  No one does that.  They have not seen the pictures.  They were not there for the dressing changes.  They do not know that this disease rears its ugly head on you constantly and how rare that is.  They have not seen the pictures of adults with lesions, lesions that cause bones to show, the ones that have lost their lives or limbs to this disease- literally.

I want you to live this life to the fullest every single day my little girl because I do not know what the future holds.  Right now you are cuddled up next to me and I can hear you making that noise in your throat that tells me it hurts. You have been doing it for a couple of days.  It did not stop you from having a great time at a party yesterday but it has stopped you from sleeping through the night.  That is how I know.  As I slide out of your bed at night you always say (in your sleepy little voice), "Mommy, where are you going?" As I leave I say in your ear, as I smell your clean hair and milky breath, "I will be here if you need me.  Just call me." I mean that always my sweet six year old girl.  I will always be here when you need me.
Happiest of Birthdays to you.
Mom

The Wonderful Things You Will Be

I am the type of person who likes the TV on for background noise.  However, I will only watch movies and shows that are happy or comedic... I don't need more sadness or drama in my life!  As I was getting ready for work the other day I had on an episode of I Love Lucy.  In this episode Little Ricky had to have some kind of surgery.  In those days the family was not allowed to stay overnight (or even after the surgery!) with the patient.  In classic Lucy fashion, mom finds a way to sneak into the hospital, create havoc, and when Ricky comes to find her late that evening she is curled up asleep next to Little Ricky in his hospital bed.

I share this with you for a couple of reasons.  One is that it reminds me of what a mother will do to be with her baby when she is needed and wanted.  The second is to remind us of how far hospitals have come. 
When we look at the whole picture of Lil over the last year, there has been a steady increase in her pain, a decrease in what she has been able to do, and a lot of frustration for those of us who care for her (and I would say a lot of frustration for her!).  We have tried multiple courses of steroids, pain meds and all the other things you do to take care of your sick babies. 
Our solution (Dr. R and I) was to pull her main docs together and some family members, we just could not fit them all, and discuss a new path forward.  At the last minute Dr. R and I had the forethought to invite Palliative Care... this was genius.  When most people think of Palliative Care they think of end of life care.  Now it means so much more.  As they self described, they are a team who can help with quality of life, communication between the family and the doctors (which is not really an issue for us), and they can help coordinate everything that is going to make that quality of life the best it can be. 

They helped us to understand that while Lil has real pain from her arthritis and headaches, nausea, itching and other things she cannot yet tell us about, she also has a kind of pain called AMPS.  AMPS is Amplified Pain Syndrome.  After looking at pictures of Lil's wounds and her scars the doctor determined that she has a lot of nerve damage.  He said that the nerve damage sends a signal to the brain that there is pain even if there is no longer pain.  I asked if that means the pain is not real... he said that no, the pain is absolutely real.  The brain is still perceiving pain.  However, the problem with AMPS is that pain medicine does virtually nothing to help.  This explains so much!  Lately we have been having to give her oxycodone and Tylenol just to get her close to comfortable enough to go to school.  She missed two months in a row this winter.
Thanks to the hard work of Dr. B, Dr. R and  Palliative Care, we now have a new plan that is very exciting.  With that new plan comes some new levels of acceptance.  I went into the meeting hoping for a new medication regimen.  It took a loving push from my dad (thanks Dad) and about 24 hours for me to realize that this is as good as it is going to get for her and that is what the doctors were trying to tell me.  As moms, we always want more for our kids.  However, the acceptance comes in that this is as good as it is going to get for Lil.  She has had breakthrough lesions.  Even now as I write this I just walked away from examining her mouth and throat and found a big lesion on the roof of her mouth and the back of her throat.  It is  good sign when she asks for a lot of things to eat and eats none of them that something is going on in there....
It is not a good idea to change her current course of meds for many reasons.  The most prominent being that we are using the safest ones and when we look at the fact that we are going to be attempting to control this 'orphan disease' for the rest of her life we have to be conservative with how many biologiques we go through at such a young age.
That brings us to Palliative Care.  Our plan is to get her into psych, PT (specific to AMPS and other PT), try some new pain meds, get us involved with a social worker there and Child Life (on a new level), we are going to get a handicap placard (Dr. R's idea), get Lil an IEP or 504, and get Nettie into therapy.  Deep breath.  All of this would not be possible without Julie. As a family they want us to change the focus from anxiety (which I have been trying to do but by myself I guess).  They also talked about how in pain management they are getting away from those pain scales and focusing more on the function of the patient.  I totally get that; people always ask me how I can possibly have a migraine but still be standing there talking to them.  It is because I live with migraine 24 hours a day, 7 days a week.  Palliative Care said the same for Lil.  She will probably never be at a zero, they said her best will probably be a 4 but to look at her function, what she is able to do.  I love this way of looking at things. 

 

They would like us to push her to do more, go to school 5 days a week, play more without meds, etc.  The mommy in me who has lived with this disease is scared and excited.  I have seen what happens when she pushes herself and she pushes too far (so much pain, vomiting, wiped out for days....) but they said if we don't let her do this she will not learn how to gauge for herself what her limits are.  The mom in me says, "She is only 5!"  The mom in me also says, "She can do this!"
There are a few things we are still "talking about"  (AKA disagreeing on) but this is why I love my docs at AI.  I can talk to them, it is a discussion.  I want a medical stroller.  She can play more if I can get her to the playground.  It is the same idea as the Handicap Placard.  It is a support.  I also want to try medical cannibus.  We are still 'discussing' this idea but they did not shut me down right away on it.  Dr. R had a good point on the stroller.  He said, "I just don't want to make it medical."  I get that but I also have to live life with her and she does not fit in a traditional stroller anymore.  I can't carry her around, that is worse!  She is almost 6. 
So Lucy, you were ahead of your time.  Good care for kids is a team effort.  I am excited and scared about our path forward.  Our girl looks healthy so much of the time but underneath all of that is a very sick little girl and behind her is a family who has been struggling to support her.  Hopefully we will now have to struggle a little less.  Our Palliative Care doctor shared a group with me called Invisible Diseases.  It is so hard when she looks normal but is just not.  The dynamics are very interesting...