Brooklyn Rex was diagnosed with HLH in 2014 because of multiple complex symptoms and blood results that she had. It was a very long to get to that point after 40 days of fever, amongst other things. Her rash would come and go at the same time every day. With her Ferritin around 71,000 there were some quick decisions that were made. Platelets were crashing and going way high on other days. She had an infusion that broke out into her little arm one night and we honestly felt like we were about to lose her. As parents of a child that deal with the daily ‘what if’ can create many stresses. The emotional roller coaster that we were on with all the guess work by doctors was (and still is) traumatic.
Eventually we found a condition like HLH that accompanied her sore joints called Macrophage Activation Syndrome (MAS). So we packed our bags and baby girl and flew to Cape Town, South Africa to get a second opinion from a specialist at Red Cross Children’s Hospital. It was confirmed that she had Systemic Juvenile Idiopathic Arthritis complicated by MAS. We struggled to get Brooklyn stabilized with the limited treatment available in South Africa so we flew to Dallas, Texas where she has been seen by specialists at Scottish Rite Hospital for the past few years. Brooklyn’s condition has been also complicated by a recent diagnose of Crohn’s Disease which we are using biologics, along with her Chemo and other treatment, together with the Specific Carbohydrate Diet (SCD).
What is HLH?
Have you ever heard of HLH? HLH is a rare, but serious childhood disorder. It’s characterized by an overactive immune system and can affect many parts of the body such as the heart, liver, lungs, spleen, and brain.
The acronym “HLH” stands for hemophagocytic lymphohistiocytosis which means that white blood cells are attacking healthy tissue in order to fight off an infection or disease.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder that occurs when the immune system damages healthy cells. It leads to fever, difficulty breathing, rash and enlarged liver and spleen.
There are two types of HLH: primary or secondary. Secondary HLH can be caused by an underlying condition such as HIV or cancer while primary HLH usually has no known cause.
HLH is a rare disease that affects about 1 in 200,000 people. It’s what happens when the immune system overreacts to an infection and starts attacking healthy cells. That usually means it targets white blood cells and platelets. This can lead to serious problems like low red blood cell counts, difficulty breathing, and fever.
Macrophage Activation Syndrome (MAS)
Macrophage Activation Syndrome (MAS) is a rare and can be difficult to diagnose because the symptoms are similar to other conditions that have overlapping features. The primary indicator of MAS is a fever, but it also presents with skin rashes, joint pain, congestive heart failure, and neurological issues such as confusion and disorientation.
People with this condition can present in an atypical manner as well, which makes diagnosing them even more challenging.
Doctors often misdiagnose patients with Macrophage Activation Syndrome because they do not know how to identify the condition and its symptoms. This leads to a delay in diagnosis which can make treating this illness more complicated as time goes by.
There’s still a lot that isn’t understand about this disease: what causes it? Why does one person get infected while another doesn’t? How long will someone live after diagnosis before getting worse? All these questions come to mind for parents and medical professionals when diagnosing Macrophage Activation Syndrome (MAS).
How to Help?
Ongoing treatment can be super expensive for a child with autoinflammatory conditions like sJIA and MAS. With Brooklyn’s Crohn’s diagnosis we have her on the Specific Carbohydrate Diet (SCD) to reduce inflammation in her body and gut. This has given us hope for Brooklyn with managing her overall wellbeing.
Get in Touch
When we began this journey in South Africa, resources and information were scarce. In the United States, the treatment options are far more available and knowledge on Brooklyn’s autoimmune conditions are managed far better. If you are looking for someone to talk too, please reach out to us on the Brooklyn’s Facebook page.
Systemic Juvenile Idiopathic Arthritis (SJIA)
Systemic Juvenile Idiopathic Arthritis (sJIA) is a systemic autoimmune disease that causes inflammation in the joints, muscles and other areas of the body. It most often starts between six months to two years of age.
Systematic Juvenile Idiopathic Arthritis may also be called Still’s Disease. It is considered rare among adults and more common among young children.
sJIA is caused by an immune response in the body against certain proteins found mainly in cartilage or other tissues of the body. This immune response triggers inflammatory cells to destroy healthy tissue which creates all sorts of complications in the body.
Treatment for Systemic Juvenile Idiopathic Arthritis (sJIA) is focused on managing symptoms like preventing joint deformity. As a chronic disease it proves difficult to treat, but there are effective treatments available for this condition. sJIA can be treated with medications (including cortisone), biologics, physical therapy, or rest. You certainly find there are good days and bad days.