Diagnosis Road: Aubrey's Story (CVID, asthma, migraines, NDPH)

 

The diagnosed: Aubrey (lower right), now age 10

Those who love and care for her: Dad Josh, Mom Courtney, 

big brother Christian and little sister Lucy 

Name the diagnoses:

Common Variable Immune Deficiency (CVID)

Asthma 

Migraines 

New Daily Persistent Headache (NDPH)

How did this begin in Aubrey? 

Aubrey started having lots of illness around age three. She then got her first set of ear tubes due to chronic ear infections, and sometimes she wouldn't respond to antibiotics so her eardrums have ruptured numerous times. She ended up hospitalized for Kawasaki Disease right before she turned four. It was scary because she had continual fevers of 103-106 degrees for ten days. She received IVIG (intravenous immunoglobulin) once the diagnosis was made and much to our relief, she improved right away (although recovery took months because the disease has three phases). At first we had to visit the pediatric cardiologist frequently for ECHOs and other labs because if not treated by day ten, Kawasaki Disease has a 25% chance of causing permanent heart damage or stroke.

She continued to have chronic infections in her ears, throat, and sinuses, along with pneumonia a couple of times over the next 5 years or so. FIVE YEARS.  We lived it, but typing it out and seeing the number makes me realize how long and torturous it really was; so much of our life was loving her through unending sickness.  Migraines then joined the chronic sinus infections and she was put on preventative meds to help keep them at bay. By third grade, she'd had three sets of ear tubes, her adenoids and tonsils removed, all sinuses cleaned out and her drainage tubes widened.  

She continued to have chronic sinus infections even after surgery, even with rinsing her sinuses 2 times a day, and even with trying several different medications to manage sinus symptoms. Her ENT thought she had severe allergies so she was referred to Dr. Shepherd, a pediatric allergist/immunologist. 

Before she could get into that doctor, she had a sinus infection that caused her fever to jump from 99 to 104+ within a few hours so we went to the hospital. It took a lot of IV antibiotics and 5 days in the hospital to bring the fever down. Actually that was the last fever she had because now her immune system can't even fight infections and viruses enough to create a fever. 

In October of 2015,  we had our first appointment with Dr. Shepherd. All allergy testing (skin and blood) came back negative. After discussing Aubrey's history, she said it sounded like something was missing or not working properly in her immune system which meant lots of blood work was needed. She was also diagnosed with asthma and given an inhaler with a spacer because nearly every infection brought on wheezing. 

Asthma is a condition in which your airways narrow and swell and produce extra mucus. This can make breathing difficult and trigger coughing, wheezing and shortness of breath.

It took all the way until December 22nd to get a diagnosis. Aubrey has a primary immunodeficiency which means part of her immune system is missing or doesn't function properly so she is susceptible to infection. Her specific diagnosis is: 

Common Variable Immune Deficiency (CVID). Basically, Aubrey has the proper number of white blood cells, but they don't mature properly. They don't form antibodies which are what allow your body to fight bacteria, infection, and viruses. Aubrey's IgG (her body's main defense in the blood) was very low, her IgA (main defense in mucous membranes) was very low, almost absent. Her IgM (the first antibody to be made by the body to fight a new infection) was borderline low. She also lacks the ability to respond to some vaccines and develop memory cells to fight certain bacteria. CVID patients are much more susceptible to autoimmune conditions and certain types of cancer compared to the general population. There is no cure for CVID, but there are treatments available. 

You can imagine how vulnerable this makes her little body. 

I cried happy tears when we received the diagnosis, because at least I went into Christmas knowing that it wasn't cancer (because of course I had googled her lab results and scared myself). When you're diagnosed, you can begin treatment right?  One would think. I never dreamed it would take until mid-February to get treatments approved by insurance. And we have to go through getting her very expensive treatments REauthorized by our insurance every six months even though she has a chronic illness without a cure! Dear insurance: It will never go away, can we not just do this ONCE? 

She stayed very ill during the time it took to get the medicine approved and ended up with about 40 absences from school that year. She couldn't go longer than 14 days without at least an antibiotic due to constant infections. After she started weekly infusions of her new medication, she only needed 1 round of antibiotic between Feb 17th and the end of the school year! The treatments (Hizentra) are miraculous, although not fun at all. We do infusions of medication made from healthy donor plasma which provide her with the antibodies her own body is unable to produce. 

She has site reactions every time so premedication is needed to help her body handle the very necessary infusions. I have to poke her with four needles and wait for the pump to run for about 1.5 hours to get the needed Hizentra into her body (although the medication burns and makes her cry every single week). We also keep an Epi-Pen nearby because at any point she could have an anaphylactic reaction to a certain batch of this blood product.  

After beginning the infusions, she had more energy and felt well enough to start participating in sports again. We started the next school year optimistic and she had perfect attendance the first six weeks for the first time in her life! Then, mid-September came and she had a respiratory infection. Early October brought a sinus infection accompanied by a terrible, nonstop headache. 

Her infection eventually cleared up, but the headache stayed and then actually seemed to get worse. This was the first time she had a headache that stayed in one area (around her right eye).  The headache varied in pain intensity, but it never went away and never moved. We went to her primary doctor, her eye doctor, her neurologist, her dentist, and no one knew how to help her. Migraine symptoms like blurry vision and an inability to focus her eyes appeared. A few times, her right extremities and half of her face went numb, feeling "droopy." 

Migraine: a recurrent throbbing headache that typically affects one side of the head and is often accompanied by nausea and disturbed vision.

She missed a lot of school. Again. We kept trying different preventative meds as prescribed by the neurologist, but nothing helped. She was hospitalized for four days in November when we went to the ER because her vision was affected, one foot was numb, and her pain was 8+. CT and MRI came back normal. Blood work came back normal (her normal anyway). She did not respond much to the migraine IV meds, but after a few days her pain was at a 4 so we went home with new oral meds. Within 24 hours her pain was at an 8 again, she started vomiting, and her vision was greatly affected. My heart ached. I felt completely out of control of the situation and I just had to watch her writhe in pain. 

At this point, neuro alone had her on nine pills a day and none were helping so we were referred to Nationwide Children's Hospital in Columbus. They weaned her off of Depakote due to negative side effects. We had a wonderful experience there and received a new diagnosis of NDPH.

New Daily Persistent Headache (NDPH) is a continuous headache that starts all of a sudden in a situation where one has not had a similar headache before. Much of the time, it resembles chronic migraine, but it may also resemble a milder tension headache without any of those features.

In Aubrey, it specifically mimics migraines and tension headaches. Once it begins, there is no break for at least three months and some continue in patients for years. It is debilitating and very resistant to treatment, although the Columbus neurologist is optimistic that they will eventually get relief for her.

How does it affect your relationships?

It definitely affects the whole family. It physically and emotionally drains me and at times I don't have much to give to anyone else in the family which makes me feel guilty. Lucy (our youngest) gets upset sometimes about how much time we spend with Aubrey at doctor's appointments and is scared when we go to the hospital because she doesn't know when we'll come home again.

Aubrey with little sister, Lucy 

Josh is a wonderful father who will adjust plans at the drop of a hat to do whatever is needed--usually while I deal with Aubrey complications. He is also very calm about all of this and has an incredible trust in God through it all. He is just the husband God knew that I would need in every season of our lives. 

Aubrey and her daddy

Big brother Christian often steps in and offers to help Aubrey when she gets frustrated from so much makeup school work.  He is very good at finding different ways to explain things in a way she can understand. 

A protective big brother from the start

I feel guilty because I'm constantly asking those around us for prayers, but I also believe with all of my heart the prayers of people who trust in God's faithfulness are powerful. He chose me to be her momma for a reason and I will be her advocate/momma bear during every high and low of this crazy roller coaster journey of ours.

At times, Aubrey feels very isolated when she is feeling too poorly to do much at all. This is heartbreaking, but it's a good time to remind her how many people love her and are praying for her.

What is the most difficult part of the diagnosis?

The hardest thing at first was having to learn to poke her with four needles every single week for her infusions, even when she was in tears and shaking from knowing what was coming. I had to look at her and do it anyway.

My momma heart wonders in fear if we can get her headaches controlled without losing parts of her personality that make her HER. These medications affect her in so many ways while still not really giving her relief. 

What is an unexpected glorious part?

I'm blown away by how incredibly strong she is. She is a beautiful, fierce warrior.  I learn from her every day. Aubrey keeps a pretty positive attitude most of the time. Every once in a while she asks "why?" which is a pretty normal response to all of this. Why does she have all of this when other kids feel good almost every day and why is their "bad" day equivalent to a "good" day for her?  Ultimately she knows at this very young age that it's just a part of God's story for her. Honestly, she accepts that easier than anyone else most days. 

Are there any places you just can't go?

One of the most difficult parts of the diagnosis in general is just not being able to plan much in advance. We have to see how she is feeling day to day, hour to hour, which makes it hard to make plans and stick to them. 

It has also been difficult to not know if/when she can participate in sports that she loves or PE classes at school. Aubrey is a competitive gymnast at Bozhi's Gym Nest but can't be consistent with practices or competitions.  She's competed in pain before and even scored well, but it's just not feasible a lot of the time.  I feel blessed with her coach, Hrabrina, who has supported me in medical decisions and how they affect her gymnastics. She said, you're the mother. You know Aubrey and her conditions best so just let me know if she can only do certain events on certain days or needs to miss due to health issues. It's nice to have a team of coaches who care about the gymnast, not just the score. 

What do people often tell you that isn't comforting or helpful (even if it comes from a kind place)?

It's hard to hear over and over "at least it's not something worse." Yes, I'm thankful we have answers and it is treatable, but very few people who have said this have been told their child has a chronic illness without a cure. They have not had to watch their child suffer from pain every single day for months without ANY idea when she might get relief. We are aware that in her future, complications are likely that will require care from even more specialists--at this point she already has an ENT, a pediatric cardiologist, a pediatric immunologist, and 2 pediatric neurologists. So yeah, it could be worse. But it could ALWAYS be worse for anyone, regarding any diagnosis.  That sentiment doesn't magically take away the pain we feel from the very real hardships we face daily. 

Speak any other truths that you want people to know. 

*Please understand that invisible illnesses are very real and it's hard for her to hear, "oh, you must be all better because you look good today and you're at school." There are days she only lasts an hour at school, but she tries very hard to be there and to last an entire day. That is not a typical goal for a child in school. 

*Please, PLEASE keep your child home if they are or could be contagious. A "simple" illness for your child, could land mine in the hospital and create months of residual pain. Wash your hands frequently with soap and water and please explain proper sneezing techniques to your entire family.  It's a great opportunity to teach your children that they are being heroes by guarding children who need a little extra protection. And it's so simple. It's so doable. 

*I have found my tribe in Facebook support groups which are extremely helpful due to the rarity of Aubrey's diagnoses. We don't know other local parents/people dealing with the same diagnoses. 

*I want to say how incredibly thankful we are for plasma donors since Aubrey relies on weekly infusions of medication that come from donor plasma.  Without this sacrificial act, her weekly infusions would not even be possible. Thank you, donors! Please think about donating your plasma, even one time.  At the end of this blog, there is a link with more information. 

*I'm going to end with something that may seem small, but gets us through the long days. Aubrey and I love listening to WalkFM for encouragement. Not only does it uplift our very souls, it bonds us closer together within mutual worship and even laughs during the show! Aubrey calls Trust In You by Lauren Daigle "our" song. We also love Eye Of The Storm by Ryan Stevenson and Thy Will by Hillary Scott . We are incredibly thankful for the ministry of that radio station.  I'm not sure they know the impact they have on my medically complex warrior girl! (And her momma). 

*I, writer of this blog, am going to hop in here for a moment and ask that every time you hear any of these songs, feel encouragement from WalkFM or laugh at the entertainment they provide, thank God for Aubrey's life and lift up her name to our Heavenly Father. Maybe even go to WalkFM's website (listed below) and, in Aubrey's name, donate to a ministry that upholds people in their pain and changes the course of their whole day.*

Would you like to share any resources or support groups? 

We have a Facebook page called Aubrey's Zebra Stripes - Life with CVID that you can access here.

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PrimaryImmune.org is an amazing resource! Their website is full of information. They also have free publications available to download to help explain each separate primary immunodeficiency. They have resources for family members, for dealing with schools, and even books for kids that explain a very complex thing in cartoons and simple terms. 

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Click here: WalkFM if you want to live stream the radio, find out how to donate/volunteer, meet the people behind the voices and more!  

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AND VERY IMPORTANTLY: 

If you are interested in learning more about donating plasma, Click here:Donating Plasma

You can find requirements, what to expect, locations to donate and more. 

You would be saving a life, one of whom you just "met." Warrior girl Aubrey!!