Un-diagnosed (the medical jargon)

I’m not a doctor…but I am a Mom. So, I will try my best to make Layla’s story easy to follow. Because here is where is gets complicated…we are not sure which one of these is the root (or start) of all her symptoms but she has an autoimmune disease, immunodeficiency and inflammatory disease. What is causing what? What is the culprit? Maybe a mutated gene? Maybe not?

Here is where we are:

Immunodeficiency- Layla gets sick easily. She can fight the basic viral infections pretty well. But, if she gets a bacterial infection, it can turn fatal. So to help protect her from infections we do IVIG sub Q (which is a weekly infusion of Hizentra®, Immune Globulin Subcutaneous). There are two main parts of a persons immune system: the innate and the adaptive immune system.
1. The innate immune system- provides a general defense against pathogens. The cells in this part of your immune system mostly fight against bacterial infections. Everyone is born with this part of the immune system.
2. The adaptive immune system- particular agents like antibodies target very specific pathogens that the body has already had contact with. That is why in most people, once you get a certain strain you wont get it again. This is also called a learned defense. By constantly adapting and learning, the body can also fight against bacteria or viruses that change over time. This is why people say that if kids get sick a lot when they are young, they will grow up with stronger immune systems.

What does this all mean? Well, Layla has a huge problem with the innate immune system. It is unknown if she was born without this innate immune system or if there is some reason it is being consumed and not functioning. She has no C1Q (compliments). The complement component C1q is a protein complex involved in the complement system, which is part of the innate immune system. So not having this C1Q, causes a huge problem with the innate immune system. A couple years ago in 2015, we were accepted into studies at the NIH (National Institute of Health). At that time they started doing whole genome sequencing and following Layla’s case. We are seen by Dr. Golbach-Mansky who I am star struck by. She is my idea of a celebrity. I will continue to keep updating as we go to the NIH every year. Every trip to see the team at the NIH they come up with theories that are so promising and get us so excited about a possible answer…but then they run into the same “we didn’t find anything” response. So until next year…

Autoimmune Disease- This is what we are calling as of right now to explain the inflammation issue. Right now, Layla is taking prednisolone (steroid) to keep the inflammation down. We have attempted a few times to taper the amount down but immediately, the inflammation takes over her little body.  It shows up as a rash on the outside but on the inside it takes over her organs. The risk is just too high for us and we fear that more strokes will occur. Her quality of life right now is important to us.

We have had so many exciting times with theories that were being brought up. One I remember because I thought it really sounded like it made sense, and even better…there was an awesome treatment plan if it was the diagnosis. That was “B cell dysregulation”. The Doctors thought that her B Cells were not dying off. You see, B cells start as immature cells and within a short period of time they become mature and then die off. Well, they thought hers were not functioning like that, they were not dying off…so maybe there were all these mature B cells in her body and they were causing problems. Based on this theory we tried a Chemo drug called Retuximab. We successfully did a couple infusions but could not determine if it was helping. She really didn’t improve after killing all the B cells with this drug. After we did a 3rd infusion she had an allergic reaction. On this day, she was admitted to the hospital to do her transfusion and a few minutes into the 3 hour infusion her face started swelling and she was having trouble breathing. She immediately had an anaphylactic reaction. Physicians rushed in and gave her injections to stop the reaction. She recovered. However, just another dead end.

So, this is where we stand today.

~Life with Layla Rae