I was side-swiped. Histio-what? Rare? What on earth was she talking about? I drove home, tears pouring down my face. What did this mean? How could she just say that straight out with no explanation? I was in shock.
I phoned Stuart. “I’m on my way home,” he said. “I’ll see you in 20.”
I managed to get Kristi and Jen down for an afternoon nap so that Stu and I could talk. We sat together, dazed, in the kitchen. And then we Googled ...
“Juvenile xanthagranuloma (JXG) is a benign histiocytosic disorder that primarily affects children under one year of age. Ocular JXG manifests in up to 10% of people with JXG and may affect their vision as the presence of JXG in the eye can cause spontaneous hyphema, secondary glaucoma or even blindness.”
What the heck?
“In medicine histiocytosis is an excessive number of histiocytes (tissue macrophages) and the term is often used to refer to a group of rare diseases which share this sign as a characteristic. Occasionally and confusingly, the term ‘histiocytosis’ is sometimes used to refer to individual diseases.”
You’ve got to be kidding me!
Waiting 48 hours for the results was unbearable. Stuart and I were shaken and confused. I was dreading how we would get through the weekend without knowing, but finally the dermatologist phoned, on Friday at 4 pm. I sat in our kitchen, shaking, as she explained that Kristi had mastocytosis urticaria pigmentosa, and we should come back to see her next week. Again, we Googled with dread …
“Mastocytosis urticaria pigmentosa is a type of mast cell disease. A rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called mastocytes) and CD34+ mast cell precursors. People affected by mastocytosis are susceptible to a variety of symptoms, including itching, hives, and anaphylactic shock, caused by the release of histamine and other pro-inflammatory substances from mast cells.”
We were in a state of shock. Scared, we stayed up researching for hours and called anyone we knew with a medical background. In the days that followed my breast milk dried up from the anxiety and fear. Just about overnight I had to put Kristi on formula. I felt ashamed, but it was beyond my control.
We saw the dermatologist a few times. Kristi’s condition was very rare and in many ways we were left floundering, searching for answers and someone to help. I threw myself into learning as much about mastocytosis as I could and discovered there was a chance that Kristi could outgrow it with the onset of puberty. That was our hope.
In the meantime, we had to find ways to manage her symptoms. She was at risk of anaphylactic shock, she had flushing attacks and an allergic response would be catastrophic. If Kristi didn’t grow out of her condition, it could mean the onset of mast cell disease or mast cell leukaemia.
Looking for support, I joined the international Mastocytosis Society online, but found being part of the group very challenging. Many of the patients had more severe disease and symptoms, which was terrifying. I learned to filter the information that was relevant to Kristi. As the months passed, she developed more mastocytosis lesions all over her body. The flushing attacks were debilitating and became more regular. With no prior warning, her entire body would flush dark red and her lesions would become angry and raised. She became agitated for up to 30 minutes at a time. We worked to soothe her and mitigate whatever appeared to be inducing her attacks. Extreme heat or cold were triggers for her, as was crying. Over time I realised that if I kept her baths tepid, and ensured that she didn’t over-heat or cry, I could reduce the attacks.
The risk of allergy meant I became meticulous about introducing foods, substances, creams and fabrics into Kristi’s environment one at a time to limit the change of a negative response. Bites and stings, especially from bees, were also potentially very dangerous. Many over-the-counter medications are histamine-inducing: antiinflammatories, codeine, anaesthetic and painkillers were among the many medicines we had to avoid. Anxiety and worry were ever present. I needed to be vigilant and to remain calm, when often I felt terrified and vulnerable, and very alone.
Help came out of the blue. One day while driving I heard on my car radio a professor of paediatrics being interviewed. His medical background and expertise made my ears prick up. This could be exactly who we needed. I tracked him down through the radio station and called his office the minute I got home.
“Yes,” the receptionist said, “you are welcome to make an appointment. I have something in three months’ time?”
“Please,” I said, “just ask him if he has heard of a disease called mastocytosis?”
Perhaps she could hear the anxiety in my voice, but two minutes later Prof. Potter picked up the phone.
“Hello – Mrs Lowe?” he said to me. “Yes, I have dealt with mastocytosis before. In fact, I studied under someone in the UK who had a specific interest in it and I’ve had one or two patients through my practice with it over the years. Please come and see me this week. We will fit you in.”
The man was a godsend. Prof. Potter guided and mentored us through the risks, the options, the do’s and don’ts. He managed Kristi’s case from then on and became our go-to person. I kept a very close eye on her and maintained records of her symptoms and responses. She started on a powerful anti-histamine, which I administered if she had a flushing attack. We expended a lot of energy making sure she didn’t cry or over-heat. This made her already erratic sleeping patterns even more difficult and we got ourselves into a terrible loop, spending hours rocking her to sleep every night. Sometimes I was exhausted from the sheer effort of making sure Kristi never cried. Now, a couple of decades later, I wish my daughter could cry more freely.
CHAPTER 4
The younger years
Kristi appeared blissfully unaware of the fear surrounding her condition. She was sunny, energetic and positive. Her unruly blonde ringlets glowed like a halo and were a constant mess, no matter how often I tried to tame them. Constantly on the go, she was tactile, affectionate and curious. Her illness didn’t slow her down. She crawled early and just about started running before she could walk. It was ironic that the child who couldn’t have medication was so adventurous and fearless. Kristi rode her little black bike at speed, climbed trees and threw her arms around every stray dog she could find. I had to learn to sit on my hands so as not to wrap her up in cotton wool and stop her from engaging with the world around her. Ali soon discovered that the only way to keep her sitting at the table during family gatherings was with large bowls of ice that she would crunch and play with for a while before dashing off again. She was an active one and kept me fit!
It was time for me to leave the corporate world so that I had more flexibility to deal with Kristi’s challenges. I resigned and started working from home. My “sabbatical” lasted a few weeks before I started a small PR and marketing consultancy called Upfront Marketing, which I ran for 18 happy years.
By now the girls had become inseparable. When Jen went skipping off to playschool in the morning Kristi would wait at the front door every day, saying, “Jen go s’cool ... I wanna go s’cool too, Mommy. Kristi go s’cool too.” At noon, when Jen eventually came home, Kristi would tumble into her arms, grab her by the hand and drag her off into the garden to make mud pies and potions. Their bond was extraordinary. They spent endless hours playing imaginary games, swimming, dressing up, dancing, rough- and-tumbling and giggling together.
Thankfully, just after Kristi’s third birthday, new mastocytosis lesions stopped appearing. It was a massive relief and a good sign she might be starting to grow out of her condition. When her flushing attacks stopped shortly afterwards, Prof. Potter was delighted and optimistic. Things were looking up. We began to develop a more normal routine as a family and could now send Kristi to playschool. She was thrilled.
There