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 21st 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 17th 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
Gina Castelli
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