Shhh! We're Writing the Constiitution!

The outpouring of support I have gotten since my last post has been just simply phenomenal.  I cannot thank you enough.  A good friend of mine told me once when this all started that I have to be ok with people doing for me because I have always done for them and I will be able to do for them again someday.  I am waiting for someday.  Right now I am still hurting and I am still angry.  Another good friend reminds me that sometimes you just have to feel things until you do not feel them anymore.  I think that is great advice. 

So I am enjoying every minute with my babies.  I am hugging them and kissing them and being a mom.  I am surrounding myself with good friends.  I am taking the extra time to look at the beautiful night sky and the extra second to take a deep breath.  I am feeding people.



As I mentioned in an earlier post, The House of Representatives is asking families of children with rare diseases how they can help us.  How amazing is that?  We were asked to tell our story and respond to some questions they have.  Here is my response.  It is also a nice update on Lil's condition all in one spot if you have just joined us or you are feeling a little lost as to where we are. 


___________________________________________

 

June 10, 2014

 

The Honorable Fred Upton                                          The Honorable Diana DeGette

Chairman                                                                     Ranking Member

Committee on Energy & Commerce                            Subcommittee on Oversight &

 2215 Rayburn                                                             Investigations

Washington, DC 20515                                                           2322 A Rayburn

                                                                                    Washington, DC 20515

 

Dear Chairman Upton and Ranking Member DeGette:

 

Thank you for requesting comments for 21^st Century Cures-Patients. I appreciate the opportunity to share my family’s story, which underscores the need for a greater investment in pediatric research, cures and support groups at children’s hospitals across the country.

 

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 happy 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 a couple of days to diagnose her condition as Pyoderma Gangrenosum (PG).  They were the scariest days of my life.  PG is associated with adults who suffer from Crohn’s disease, rheumatoid arthritis and a few other auto-inflammatory diseases.  However, LillyAnna’s was only the 17^th reported case in infants.  Most of these infants responded to oral steroids and then followed up with some other maintenance medication with success.  These other infants were not followed past two years although we did find one who was followed for five years with no recurrences.  LillyAnna would 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.  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.  Yet, 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.  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 soothe her because she had so many lesions. 

After a short trip home, we ultimately  stayed in the hospital for 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 rapid 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.  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 where 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 had to resign from my full time position as a public school teacher; 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.  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.  We began pursuing a second opinion with our doctor’s support; however other children’s hospitals have as yet been unwilling to see us.  It is difficult to contact them due to the “rare-ness” of Lil’s disease.  We do not even have a specialty area we can contact.  I have to try to convince their diagnostic teams to see us.  This is not as easy feat.

At this point I compare LillyAnna’s suffering to that of an eighty year old woman.  She has arthritis and bursitis in her fingers, toes, knees, elbows and hips.  The other day I watched my two year old try to string beads and get frustrated because her little fingers were too swollen and in too much pain to get the job done and she just cried in frustration. She also still vomits so much that it is difficult for her to gain weight and grow appropriately. 

She has her good days and her bad days but the bad outweigh the good unfortunately.  The medications we are currently using to treat her are just plain terrible.  She is getting Humira which is a bi-weekly injection but not even FDA approved for a child her age.  She also gets weekly Methotrexate injections.  My husband and I cannot even think about the carcinogenic effects of these medications.  From my own research and what the doctors have said between their words, it is not a question of whether or not they will cause cancer, it is a question of when they will give her cancer.  Never mind the fact that they are not doing a very good job.  My doctor often tells me we have a tenuous hold, at best, on this disease.  I do not like the fear I see in his eyes when he says this but it is even scarier that he flat out admits how scared he is. 

So the answer to your first question of what is the state of discovery of cures and treatments for our disease is quite clear; there are none, there are none now and there are none on the horizon.  I have worked so hard to be an advocate for this little girl, we have given up so much as a family and yet, I cannot get much attention for her in the medical world or the social world.  Once people meet her they simply fall in love.  They are entranced by her story, by our family and by her…. Her strength, her tenacity, her bravery.  But we have tried to gain the attention of day time talk shows, local news stations, and social media.  The only avenue which has worked has been my blog www.lillyannacastelli.blogspot.com. Finding a way to gain attention for rare cases not only in the medical community but in the government, and social community would open our world enormously.  People just do not understand, the medical community included and maybe even more so than the others.  We need understanding and attention in the medical world more than any other.  It is cases like LillyAnna’s where it seems as if there is only one that there may be others suffering with the same symptoms, we have no idea because no one is listening. 

But we are not alone in this difficult journey.  Other parents of children with rare disease have many of the same struggles.

The single most important piece to any success we have had has been our support group “Chronically Cool Families”.  This group is run by a social worker at the hospital and two Childlife workers who give their time for this group.  They are not paid.  The hospital lets us use the rooms and the Women’s Auxiliary pays for some light snacks if we request them.   The group is composed of families who have a child suffering from a rare disease.  At the risk of sounding overly dramatic, this group has literally saved my life.  It is the sounding board that understands feelings no one else in my world understands. It is the source of medical information to which no one else has access.  It is the group of people who knows the ins and outs of the systems of federal Medicaid and Medicare and how it applies to a child under two who has a disease no one has ever heard of.  It is the group who understand the social etiquette of going to a child’s funeral. We go on trips together so our kids can go places and know what it feels like to be normal.  These types of groups need to be funded in every children’s hospital in the country.  We need money, we need resources, and we need attention.  You can help to give us a platform and to shine a spotlight on the state of research for pediatric rare diseases.

The financial burden we carry is enormous.  As I mentioned, I had to resign from my position as a public school teacher.  We are lucky in that my husband also worked for the school district as a maintenance mechanic so we are able to keep LillyAnna’s state benefits and supplement with Medicaid.  However, we went from a dual income household to basically a single income household.  Currently I have gone back to my college job of bartending two nights a week just to make ends meet but this is extremely difficult for us emotionally.  When LillyAnna has a difficult day, it is almost impossible to leave her and the nights I work I am only getting two to three hours of sleep if I am lucky.  I have learned that most families in our situation sell their homes and downsize.  That is what we are looking at doing next but with the housing market being what it is and the debt we have already acquired before receiving help, it does not even seem that would do anything for us at this time.  The Social Security office told us to let them know if my husband lost his job, then they would be able to help us. 

I wish I had a good answer for how you can help but I am realistic.  I know that no one is going to throw a ton of money into a disease that only one child has no matter how much that child’s family is suffering, no matter how beautiful that child is (inside and out).  But there are some things you can do.  Grow our support group, find money to support it and pay the people who are running ours.  Then give them the resources to make it happen in other hospitals.  You could also work with the National Institutes of Health to allocate additional resources to pediatric diseases as a whole.

The other thing you can do is help us financially.  We fall into a unique niche in the world of disease.  We cannot just hire any old nurse to care for our little ones.  Especially someone in my position.  I have to care for her and she cannot got to daycare or school.  I made more money than my husband and now, suddenly I cannot work.  What would that look like in your house?  If the main bread winner suddenly had to stay home? 

Research into inflammatory diseases could not only help LillyAnna but could help many other children who have similar issues. 

Thank you.  Those words are simple and overused but in this case there are none more appropriate.  You are taking an interest where not many others are and you, who have the power, are asking how to help.  Thank you for listening.  Thank you for caring.  If there is anything else I can do to persuade, assist, inform or educate please do not hesitate to ask. 

Gina Castelli

 

 

Dirty Beasts

It is so unfair but I am going to do it any way because I know for a hard fact that my doctors do not read blogs.  And for my nurse friends who do, please understand that I am angry for my baby girl.  And understand that this does not reflect at all on Dr R and Dr B. And that I know Doctors are WONDERFUL people, every doctor we have met has been so kind, so helpful. 

Doctors can be Dirty Beasts. They are the holders of so much knowledge and they keep it locked away in a vault lost to our lack of understanding.  They are the misunderstanders of our pain and everyday experience but to make it worse they think they do understand and leave us wanting to scream from the bottom our bellies in frustration.  They walk away before you are done.  They leave you with questions and thoughts you did not realize you had until the next morning when you wake up in a strange hotel room next to the softest little baby arms and legs listening to quiet breathing at 5am.  They say things in passing that you hold on to like your last crust of bread and think nothing of it and they diagnose things they have no business diagnosing.  They have everything and I have nothing.  Oh wait, they have my money... and my hopes and dreams.  Too far?  LOL!

We have drained the last of our savings account, we have drained our bank account for this month, I caused myself so much stress I can't even discuss it just to find out that Dr R is an amazing doctor (which I knew but was awesome to hear) and he has done just about everything right. And that she does indeed have Idiopathic Infantile Pyoderma Gangrenosum and that we are doing everything we can to control it and this is what her life is going to look like. I have a few new ideas to bring home but nothing mind-bending.  We had a great time but Chris and I were planning a weekend away which we have not had in a long time and we really need and this took care of that.  Please do not think I am asking you to do anything.  This blog started as a way for me let it all out and here it is friends. 

These doctors were wonderful and knowledgeable but they are not invested in my little girl.  They fell in love with her just like almost everyone does but they did not even take the time to review her records before we walked in the room.   

Basically this dermatologist has treated many cases of PG in adults and even seen a case in an infant.  He said Dr R is a great doctor and gave us his personal phone number to give to Dr R in case he has any questions.  That is a wonderful resource.  He believes she has Juvenile Inflammatory Arthritis and that is the main cause of her PG.  But he is a dermatologist so I need to take that theory to my rheumatologist at home and discuss it with her because if I have learned anything on this trip it is that AI DuPont has some fabulous doctors.  They may not have seen as much as these docs have but they have good instincts, they are smart, and they DO look at records.    And we saw one of the world's best rheumatologists the day before that and he did not diagnose her with it.... see what I mean? 

I just want to scream and cry and rip their hair out!  Don't tell me not to worry.  My baby is two and a half and has days when she cannot get up and play... DAYS!!!!! Do you understand that?! And you say don't worry about the side effects of the Humira and Methotrexate... well I want to wave my magic wand, reverse, take their two year old, hold that syringe up to their leg and then ask how worried they are.  Oh wait... let me do that twice a week... for YEARS!!! Now how worried are you?  And then weird things happen like softball size, hot, red welts show up all over her body for no reason. Or her lips get PG like lesions on them.  Now how much should I worry? 

Fuck them.

Sorry.

The next post will be better.  Now I am going to leave NY and see my other babies.  We got them some little treats.  My dad and stepmom are going to spend the day with us.  And I am going to breath.  Just breath and thank God that today is NOT a day when she is sitting in that lounge chair all day. 

Not proofread... don't even want to read what I wrote:)

Strega Nona

I am not sure if you have noticed but all of my blog titles are children's books and they are somehow related to the contents of my post.  This one has no connection to the contents of this writing but it has a connection to the contents of my heart.  This book is one that my grandmother, my heart and my soul and best friend who passed away eleven years ago, read to me over and over again then I read it to gads and gads of kids as a school teacher and now I read to my kids.  I need her right now.  I can't have her.  Being here in the city reminds me of her but it is so much more than that.  I want to know what she would say about all this, what she would do, how she would put this all in perspective. 

When I met my husband Chris I was dating someone else (don't think less of me... it was a convoluted situation at best).  At the time my grandmother was dying of cancer.  In those days my family was always around her, soaking her up, eating, being together.  She would come sit with us and then go in her room to rest.  Sometimes her grandchildren would just go lay with her, no TV no phones, no nothing.... just her.  I finally got her alone (my family was wonderful about allowing me to have some time to myself with her) and I laid down next her in her bed.  We faced each other in the quiet dimness of her room and I said "Mommom, some boy asked me out."  Her response: "GO!  You are not married!"  (caveat: the relationship I was in was less than healthy to say the least but my grandmother was one person who actually understood my attraction to this person and enjoyed him as well).  To which I responded, "But Mommom I am with Jim." and the conversation went on from there.  Needless to say, I went out with Chris, I dated Chris.  When my grandmother finally ended up in the hospital where she died a few weeks later I introduced her to Chris.  She sent him out of the room and told me I would marry him which of course I did and I have never regretted it.  I am still in love with him.  So what would she say about this, what would she think?  She knew everything.


We are here in New York City to see doctors who 'have seen it all'.  So far I am not impressed.  The Rheumatologist we saw yesterday is supposed to be one of the best in the world and he was obviously an amazing doctor and a wonderful man.  He came in with quite a crew: a few doctors, some fellows and a medical student.  We are used to this, we never walk into a doctors office without being the star of the show and I support it fully.  I even pulled out my computer so they could look at wound pictures.   I want as many doctors as possible to see this disease so that if any baby ever walks into an office or hospital with it maybe someone can say they have seen it and we could have helped with that.  But the bottom line of what this doc said is that we are doing the right thing.  Stay on the track we are on.  We can increase the Humira if we want.  This breaks my heart.  This is it?  This is what my baby's life has to look like?  Having days where she does nothing but sit in a chair because she is in so much pain?  Vomiting every day?  Getting painful pustules all over her body?  Waiting for the next awful horrible to happen?  However, kudos to Dr. R and Dr. B.  They walked into this disease blind and did all the right things.  We paid $700 to hear from him that we don't need to change anything.  Of course, we did create a relationship that will help us in the future when we need.  Does he take insurance? Of course not.... the best of the best never do!  LOL! Never mind the $265 a night we are spending on the hotel:) Good times my friends, good times. 

Thank you to everyone who helped out to make this trip happen so quickly.  It IS good.  Chris and I are just in a bit of a whirlwind and are using this venue to vent.  Finding this doc is truly a goldmine in so many ways.  My mind is just not there right now.  Maybe it will be later.  Today we see a dermatologist who specializes in auto-immune disorders.  This is something we have never done. 

In the meantime we are enjoying the Big Apple thanks the generosity of some very kind people. 
I did not proofread this, need to get out and see some of the city:)

 

Quick Update 11

Soooo....
Plans have changed. It is funny how that happens:)  We are now leaving for NYC tomorrow morning and I found this out approximately 12 hours ago.  No problem!  Ha!  We are going to see a Rheumatologist while we are there.  He is supposed to be the best of the best and apparently he knows it because he is one of those fancy docs who does not take insurance.  You do not even want to know the price tag for this little trip to the big apple.  So all I have to say is thank you for the last time to all of you who attended or gave to the benefit last November.  This trip will eat up the last thousand dollars of that money so thank you thank you thank you all!!

Good News Bad News

 

We have been waiting so long and I truly do not know what is going to come out of it. 
We have been waiting so long and it is really more about their research than it is about Lil.
We have been waiting so long and I do not know how to prepare.
We have been waiting so long and I only have two days to get myself and a family of five ready.
We have been waiting so long...

 

A researcher from Weill Cornell has confirmed that LillyAnna has Idiopathic Infantile Pyoderma Gangrenosum.  I am going to post her official report but I will warn you that it is pretty intense.  She has referred us to a dermatologist who specializes in auto-immune diseases.   This is not a specialty we see here at AI.  All I can say is we will see.  I have some reservations about this but none that will be harmful to Lil so on Friday... yes this Friday we will be traveling to New York City to see this doctor and see what he has to say.  These people want Lil and they want her badly.  Chris and I will drive to NYC Friday morning and stay the night while the twins have a much anticipated sleepover with Nonni.  This kind of attention from a researcher is exactly what we have been waiting for so it should make me happy.  So why do I feel like I am shattering into a million pieces?

In the meantime, Lil's headaches are increasing in frequency and intensity so we are going to schedule an MRI of her brain.  As was the case in December, an MRI is more of a major procedure for her than it is for most kids.  Which is a reason my stomach is in knots.  The other thing that has been going on is that she has been complaining a lot about her stomach hurting, like sharp pains.  She actually woke up this morning around 5am writhing around screaming in pain saying her stomach hurt.  Not sure what we are going to do about that but I will be talking to Dr. R.  I am going to push for that MRI to include her stomach too.  Last time we did an MRI I wanted it to include her brain and I did not push hard enough: lesson learned. 

This past week she has had more bad days than good.  Lil just simply has not been herself and that makes me feel like I want to claw my own skin off.  In my heart I see her pain and it is exasperated by all of the stress I am under dealing with the doctors in NY, the NIH situation and trying to figure out how what my job situation is going to look like come fall. 

Shattering into a million pieces, a stomach in knots and wanting to claw my skin off you can imagine my state of mind.  I will get myself together like I always do.  My partial Dragon Mother will emerge.  I say partial because full Dragon Mothers know who they are.

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:)