Cryopyrin-Associated Periodic Syndrome

Jeremiah 29:11 (NIV) -- For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future.

God has BIG plans for Lily and she will help many others one day I am sure. God knows our future and has given us hope.

Lily has been diagnosed with Periodic Fever Syndrome (PFS). Her specialist has sent blood work to Maryland for genetic testing to confirm though he is fairly certain the results will show us what he already knows. Lily's symptoms fit into the category of CAPS or Cryopyrin-Associated Periodic Syndromes more than the other PFS though this is not certain yet. Periodic refers to her having 'episodes' or 'flare ups' of the symptoms. There are seven genes that are affected by PFS and Lily is being tested on every one of them. Below is the information from a CAPS website that I have found very helpful.

CAPS (Cryopyrin-Associated Periodic Syndromes) is a group of rare genetic diseases that can cause rashes, fevers, joint pain, and other inflammatory symptoms. These symptoms often occur after exposure to cold or damp air or a drop in temperature. However, symptoms may also show up for no clear reason.

Cryopyrin is a protein responsible for triggering the inflammation and painful symptoms of CAPS (Cryopyrin-Associated Periodic Syndromes). A breakdown in this protein is what these diseases have in common. In the United States, there are approximately 300 cases, but many patients may remain undiagnosed.

Mutated cryopyrin found in CAPS (Cryopyrin-Associated Periodic Syndromes) sufferers stimulates a certain type of white blood cell to overproduce IL-1ß (interleukin-1beta). Normally, the immune system releases IL-1ß, among other substances, to fight off "foreign" invaders such as germs, viruses, and particles like pollen or other allergens. These foreign invaders are known as antigens.

In autoimmune diseases, the body fails to recognize its own cells and tissues. Autoimmune diseases include conditions like rheumatoid arthritis, lupus, multiple sclerosis, and Crohn's disease. In people with these diseases, immune response is provoked by auto-antibodies, which are proteins that attack the body's own healthy tissue. Once the attack starts, it cannot be switched off. For this reason, many of these diseases are chronic.

Cryopyrin-Associated Periodic Syndromes is different because the immune system produces inflammation even though there is no threat from antigens or auto-antibodies. This inflammation is caused by overproduction of IL-1ß due to a mutated gene.
Scientists have made great progress in understanding the genetic changes that start the chain of events that triggers inflammatory reactions in CAPS. When a trigger is present, cryopyrin assembles with other molecules to coordinate an inflammatory response. This response causes overproduction of IL-1ß, which leads to inflammation. Inflammation produces the symptoms seen in CAPS.

The reason Lily's doctor believes this is what has been going on is from detailed medical history and the many of Lily's symptoms "fit into" this syndrome. She is having less and less time between fevers and between symptoms. I have a diary of fevers and symptoms that I took down daily for two years.I gave up because I thought the fevers were just a weird quirk or many there was some type infection we just hadn't found yet. This isn't something 'new' or something that suddenly came up. This is putting together everything from the low muscle tone to the fevers and figuring out how to help Lily. This had been mentioned months and months ago by two different specialist but because it's so rare they just couldn't decide what to do or how to handle this. That was how we ended up seeing the specialist we are with now.

Lily does show signs of arthritis. Mainly in her knees. She has fluid build up on the knees and reduced flexibility. She can no longer lay her legs flat. The knees are always bent. Lily will begin with physical therapy again soon. She also has appointments with hearing and speech. I am filling paperwork out for the developmental disorder clinic. Lily has an appointment with the sleep clinic and will undergo a sleep study. Her neurology appointment is coming up in March

Lily begins a new treatment that was approved for children just this past January. These are daily injections and I have been warned that this medicine burns. But also told that it's worth it and that the few seconds of pain doesn't compare with the freedom to live somewhat normal. Her doctor also increase her pain medication.

Someone said to me the other day that this is a "life sentence" not a "death sentence" and I really have taken this to heart. She will live her life with this but at least she will live. Many others on this same road with a rare disease or disorder are not so fortunate.

Lily will be just fine and we will all just have to learn how to cope with certain parts of what her diagnoses means and learn to work around what can't be changed. But Lily is a fighter and has already overcome many obstacles in her way. She is our bulldozer and we expect her to do as she has always done...push right on through.

And for those times and moments when she needs help the most or needs more comfort she has Beezus by her side. Beezus is a St. Bernard/Great Pyrenees mix (aka The Horse or Fluffaluffagus) and she is currently in training as Lily's Service Dog. Beezus will be my eyes and ears as well as hands sometimes. When Lily gets an idea in her mind (like dashing into the road after a nickle shining in the sun) Beezus will keep her from harm. When Lily gets her daily injection Beezus will he there to give puppy kisses and help ease the pain. When Lily hurts to much to move or her fever is high and she needs to rest then Beezus can lay with her or fetch the ever falling cuppie. Beezus is a life changer already.

This page is for loving Lily and Beezus!

We appreciate your love and support and encouragement as we take this journey together.