Rare Disease Day

February 28, 2019.

In Honor of Rare Disease Day I wanted to change up my regular blog format and focus on spreading more information about ITP instead of focusing only on our experience. Our experience with ITP is even more rare than the disease itself. Eva really was one in a million. This is not to diminish our experience at all but until Eva was diagnosed I didn’t even know this disease existed.So many people still don’t understand this disease. I am determined to change that. Awareness is key to creating a change.

ITP – Idiopathic Thrombocytopenic Purpura, Immune Thrombocytopenic Purpura, Immune Thrombocytopenia. A platelet disorder characterized by an abnormally low number of platelets in the blood.

What are platelets? Platelets are a component of our blood that are essential in forming blood clots. Blood Clots consist of a mass of fibers and blood cells. When we are cut or have internal damage platelets travel to the damaged area and stick together forming a clot and causing the bleeding to stop. A low platelet count results in easy bruising, bleeding gums, nose bleeds and higher risk of serious internal bleeding.

Idiopathic – Means we don’t know what causes this.

Thrombocytopenic – Means a decreased platelet count.

Purpura – Refers to the bruising and discoloration of the skin that occurs.

There are two forms of ITP. The most common form is Acute ITP, most commonly seen in children aged 2 to 6 years. Sometimes the symptoms follow a viral illness, but many times the cause is unknown. This form of ITP has a sudden onset and the symptoms disappear in under 6 months, commonly after a couple weeks. Acute ITP doesn’t usually recur and is the most common form of this disease. Acute ITP effects males and females equally but in children under 2 years of age it is more common in males. Chronic ITP lasts longer than 6 months and sometimes several years. This form of ITP is most common in adults but does affect adolescents. Chronic ITP can relapse often and requires patients to remain under the care of a hematologist. Two to Three times more females have Chronic ITP than males.

In most cases the cause of ITP is unknown. A child may have a viral infection about 3 Weeks before ITP develops which has lead doctors to believe that our bodies create antibodies against out platelets. This is why ITP is sometimes called Immune Thrombocytopenia and is classed as an Auto Immune Disease. When the child’s body is making antibodies to fight the viral infection it is thought that the body also makes antibodies that stick to the platelets. When the immune system sees any cells with antibodies on them the cells are destroyed. Many doctors describe this as a “Misfire” within the immune system.

A normal platelet count is described as 150,000 to 450,000. This is something I just learned while I was researching to write this post. I always believed 350,000 was the top of the normal range. Under 100,000 is considered Abnormal and when ITP is diagnosed. If significant bleeding occurs the platelet count is most likely less that 10,000. The lower the count, the higher the bleeding risk becomes. The symptoms are as follows:

  • Purpura – This is the bruising that is noticed, blood that pools under a certain area of the skin. Children with ITP can bruise without any known trauma.
  • Petechia – Tiny red dots under the skin that are caused by extremely small bleeds.
  • Nosebleeds – most are acute and just “ooze” over the course of minutes to hours
  • Bleeding in the mouth or in and around the gums
  • Blood in vomit, urine, and stool.
  • Bleeding in the head. This is the most dangerous symptom. Any trauma to the head can be life threatening when the platelet count is too low. Another thing that I didn’t know about ITP – Brain Bleeds can happen with something as simple as a cough that causes a blood vessel to break. This is what we believe happened to Eva, in her sleep.

ITP is most commonly diagnosed with a Complete Blood Count which is a simple blood test. The Hemoglobin and White Blood count remain normal while the platelet count is low. Occasionally a bone marrow aspiration will be completed to look at whether or not the bone marrow is properly producing platelets. There are also other tests that can be ran to determine things like bleed time and to detect infections. Treatment plans vary heavily depending on a variety of things. Things that are taken into consideration are:

  • Child’s age, health and medical history
  • Extent of the disease, how low is the platelet count?
  • Child’s tolerance for specific medications, procedures, and therapies.
  • Patient and Family opinion and preference

Sometimes children don’t require treatment and close monitoring of platelet counts and prevention of serious bleeding is all that is done to see if the body can correct the disorder on it’s own. If treatment is required the following options are considered:

  • Steroids – steroids should decrease the rate of platelet destruction and platelet counts should increase within 2 to 3 weeks.
  • Intravenous Immune Globulin – a protein from our blood that coats the platelets making them stronger against the immune system. Also known as IVIG.
  • Infection Treatment – if the child has an infection treating this will increase platelet count.
  • Medication changes – this is done if it is suspected that medication is the suspected cause
  • Splenectomy – If the spleen is the cause of the platelet destruction the spleen of older children with chronic ITP will be removed. This isn’t done in younger children because our spleen is vital to our immune system so until children have built a better immunity this isn’t even considered as an option.

The overall goal of treatment with pediatric ITP is to keep the platelet count stable and allow the body to correct itself. Typically the long term outlook for a child with ITP is very good. That said there in no known cause and there is no cure. The body needs to stop making antibodies against it’s platelets and then the disease will resolve itself. Prevention of serious bleeding is the best way to provide a better long term outlook.

In the USA 25 children are treated annually for ITP. In every 100,000 Children under the age of 15 only EIGHT will develop ITP. Children under the age of 10 make up 40% of all ITP cases, with the most common ages being 2 – 4 years. A clinical study was done from 1995 to 2009 on 260 Pediatric ITP patients. The findings are as follows.

  • 60% were aged 2 – 10 years
  • 59% were diagnosed with a platelet count of less than 10,000
  • 77% were diagnosed with a platelet count of less than 20,000
  • 73% resolved in under 6 months
  • 26% became Chronic cases
  • 36% had a viral infection before diagnosis
  • 0.8% had intracranial bleeding (brain bleed)

The main source for this information was Children’s National Health System. I think it is very important to share this information so that people are aware of this disease. Alone we are Rare, Together we are Strong. Today I wear stripes to spread awareness for many of the Rare Diseases our children are diagnosed with every single day. While ITP often resolves itself, sometimes without treatment, other times it does not. It can be a very ugly disease. Some children never see a platelet count less than 20,000 and some never see a count higher than 15,000. Very often this is a disease that needs to be treated case by case and not lumped together as “just ITP”. I can’t stress that enough.

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2 thoughts on “Rare Disease Day

  1. My heart truly aches for you in the loss of your sweet little girl. I am an ITP survivor and reading your blog reminds me of how truly blessed I am.

    Like

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