More Personal Stories

Tell us about your journey to diagnosis?

My specialists feel  I was born with  Neutropenia but my Bone Marrow Biopsy was fine? For many years I remember always being unwell and having tummy virus after tummy virus and fevers and spending a lot of time off school. I was weak and very thin as a child. All of this kept getting put  to me picking up virus after virus…..no one thought to do blood work. So even as a child I thought I must be very unlucky to keep picking up virus after virus?    At age 21yrs I became very  very  ill and was taken to hospital and after bloods being run they found I had Cyclic Neutropenia.  By this time I was married with one child.  I went on to manage the Cyclic Neutropenia very well cause I knew when my levels were low ( I could just tell and I would even tell the nurse taking my blood test at what level it would be!) I was right often. So other than mouth and nose sores I managed quite well. BUT in 2006 again I became very unwell and at this point my neutrophils dropped to chronic level so they sit around 0.6 or 0.4 mostly. Normal range in Australia is  2.0—8.0     so my levels are bad and over the years I have had fevers lasting a week and infections of one kind or another that have made me very unwell.

Tell us how you currently manage your  neutropenia: meds, bloodwork, things you do to enhance your general well-being i.e. extra rest, diet, exercise.

To stay well I take very good care of myself , avoid sick people, use hand sanitizer all the time when out and about in public, eat well. Avoid foods that have high bacteria like seafood etc. I sleep 8 hours a night as the body needs rest to repair I feel.  I try to just enjoy things and a friend I have who battles a different problem told me one day “take the small joys of life and exaggerate them”…..so I do.  I enjoy simple things in big ways like eating expensive chocolates really slow or sipping herbal teas to enjoy the flavours or really tasting the bouquet of a fine wine. I enjoy everything I do.

Tell how you are doing now. Is your neutropenia well managed, do you experience fatigue, pain or other symptoms related to your neutropenia?

So to date at June 2019 I remain well despite those nasty mouth ulsers that you cannot escape.  I brought an electronic ear thermometer to keep an eye on my temp when I get unwell at night and I head to hospital once it gets too high. I carry hand sanitizer everywhere and use it after touching handles on doors or shopping trolleys or any place that is public that would have a lot of germs. I carry a handkie always during winter and if I am in a crowd with people coughing I put it over my nose/mouth until I can remove myself from the area. I remain reasonably well but things can change very quickly I find. Keeping on top of mouth problems is a big thing so find a good dentist.

How do you explain your SCN to others i.e. employers, school officials, friends, family? Are they supportive and understanding? 

Most people are understanding but as most people with Chronic Neutropenia don’t look sick ( we are not purple with spots all over us!) some people  don’t get it and its cruel but making someone feel that they have to prove how sick they are as our condition is somewhat invisible can be very unfair……”It’s cruel to make a person with an invisible illness prove how sick they are”…..I read that comment on the net and thought that’s so true!  A few times I have just drawn this on a bit of paper  0.4    (Normal range 2.0—8.0) that tends to shut people up pretty quick as numbers like that are the proof that we are sick but still needing to prove that is not fair but sadly not everyone is kind and understanding.

Tell how the diagnosis of neutropenia has changed your life. What challenges you have overcome? What have you learned in your journey with neutropenia? Any advice you might have for those who may read your story?   

So I have just learnt to live with it although its not easy. I enjoy everything I do. I have two beautiful daughters. I feel blessed. I enjoy the moments I’m well and just ride thru the bad times when I am not well.  I read this every night before bed as it helps me to stay strong and face my health condition head on.

“GOD grant me the serenity

to accept the things I

cannot change,

courage to change the

things I can, and the

wisdom to know the difference……

So I live, love and laugh……..and take GCSF injections for infections as needed.  May this story of mine give you hope to believe you can live with this condition. And just use hand sanitizer for the rest………………all the best.

Our daughter was born six weeks premature and spent 12 days in the NCCU after birth. While this experience was difficult enough, it was nothing compared to the medical journey ahead of us. Clementine quickly caught up in weight and development and was a typical, happy baby. Since we, the parents, work full time, she started at a local daycare.  

It was not surprising then when she started to catch the occasional cold or virus – except that when a bug came through a classroom, she would catch every single one. The coughs would go on for weeks. She caught hand, foot and mouth disease twice in three months. Her eardrums kept rupturing from simmering ear infections. And then at 13 months, we woke up one morning to her left cheek swollen to the size of a plum. We immediately took her to the pediatrician who diagnosed her with an inflamed salivary gland. Eleven days later it hadn’t improved, and a second pediatrician sent us to the ER for an ultrasound of the lump. It ended up being a large abscess and required surgical draining and several days in the children’s hospital. From then on, there wasn’t a month that didn’t include another virus, visits to the pediatrician, and more antibiotics. Laryngitis, roseola, bronchiolitis, severe mouth ulcers… Our poor baby’s happy spirit was crushed under the weight of constant illness and fevers and we were constantly rearranging our work schedules to manage backup childcare. 

Time and time again I asked the pediatrician, “Is all of this normal? It seems like she is sick a lot. I know I’m a first time parent, but this doesn’t seem typical.” Time and time again, she reassured me this was normal for a daycare baby. My gut said that something else had to be going on. It didn’t add up. Her peers were not this sick. We were suffering. Our baby would lose weight from being unable to eat from the mouth sores, her lips chapped from drool she couldn’t bear to swallow. Her bottom would bleed from the horrendous diaper rashes caused by back to back oral antibiotics. At our lowest point, she couldn’t gather the energy to play – lying on the ground in a ball, simply repeating “no, no, no” – not even letting us touch her or hold her.  

Finally the pediatrician called for more thorough bloodwork and a review of past bloodwork. I was on my way to do a radio interview when she called me with the results. She was vague but said we needed to make an immediate appointment with the pediatric hematology/oncology department. “Is it leukemia?” I asked her very directly. “We don’t know,” she replied. I made our first appointment from the recording studio lobby and tried to keep it together. 

It was not leukemia. A bone marrow biopsy revealed that our daughter’s body makes neutrophils and then immediately kills them. Her absolute neutrophil counts ranged from 200-700 over the course of the previous months, but this had been attributed to the fact that she was always in the middle of an illness when tested. Our hematologist explained that her neutropenia was likely auto-immune in nature as all evidence shows that her white blood cells were normal at birth. At some point, probably around 9 months, her body turned on itself in response to a virus that looked very similar to neutrophils. While serious, they sometimes refer to her type of neutropenia as Benign Neutropenia of Childhood – hers being less benign than most. We cling to the hope that she will outgrow this auto-immune response and experience a remission – a hope most people with neutropenia do not have.  

During a month of watch-and-wait to determine if our daughter’s diagnosis was severe enough to need Neupogen, a series of skin abscesses put us in the children’s hospital once more. She began taking Neupogen twice a week at 22 months and we have not had a major infection or illness since. And like most daycare kids, she only gets the occasional cold. 

Today, Clementine gets one small injected dose (0.2 mL) of Neupogen per week. Daddy and Clementine have a ritual of picking out the colorful bandaid she will use and which YouTube video she gets to watch during the quick poke. Most nights she will protest a bit and squirm away, but there are not usually tears. We had really hoped to avoid injections, but her counts were simply too low. With the medicine, her counts are in the almost low normal range. At the very beginning she had weekly blood draws as the doctors determined her optimal dosage. Then, it was draws once a month. And then, draws every three months.  

Basic sanitizing and hand washing is key. We have worked with her daycare to make sure that the other children are washing their hands too and not coming to school sick. We watch her wounds like a hawk for signs of infection or abscesses. Honestly, we are probably too lax now that she has been well for so many months. She’s a rough and tumble little kid, like most active toddlers. She has not needed any specialized care or accommodations at daycare or home.  

With a colicky new baby in the house, our neutropenic toddler is the easy one! If she is experiencing pain or fatigue from the neutropenia, she is unable to articulate it. Since she is 2.5 years old, we try to keep her on a typical toddler routine with healthy food eaten by the whole family and a mandatory afternoon naptime (or play semi-quietly in your room time). Neupogen changed everything for our family. It’s incredible how much healthier she is compared to this time last year. 

Last week I had to describe Clementine’s illness to a new Sunday school teacher. “Clementine has a very weak immune system. She has a rare blood disorder called neutropenia,” I usually begin. They look surprised since she is already bouncing around the room, going from toy to toy with enthusiasm. “Her body does not make enough white blood cells to fight infection. It will be important that everyone in the room washes their hands well.” We’ve never had anyone question the information or want to be anything but helpful. If anything, we have to assure others that it’s ok for Clementine to be around the kid with the runny nose or travel from home. 

We know that our child’s health outcome could be worse. Many families in that same hematology/oncology wing of the children’s hospital have it so much worse than us. That being said, there is no way to prepare yourself for having a child with a chronic illness. How is my baby anything other than perfect? The deep grief we have felt at not being able to protect her from pain, and that it took so long (although really just months) to get her the right help, cannot be understated. We have suffered from this illness, but at least we now know what to call it. We have learned to recognize the many faces of this enemy and are so grateful to have a medicine with which to face it.   

To the family or person with neutropenia, it is ok to grieve and to be angry. I am angry that I know where the best toys are in the children’s hospital. I am angry we had to cancel our annual Thanksgiving trip because we were too afraid to fly with our daughter on an airplane. I am angry my daughter looks at me with big blue eyes every Wednesday and Sunday and says, “Mama, I get my shot now. I get a boo boo (bandaid). I cry maybe?” But after you are done crying, you must look toward hope. One of the best things I did in the early days was reach out (through the Neutropenia Network) to a family in New York whose 18-year-old son has chronic severe neutropenia, diagnosed at age 2. Here was a family, many years into their neutropenia journey, providing evidence of a child who was thriving and happy. 

Our daughter Clementine is smart, curious and confident. She reads dozens of books a day and loves to explore outside. She lives for special treats and surprises and loves her baby brother. We don’t know if she really will outgrow her neutropenia. I do know that with proper management and support, it will not define her future. 

My name is Ramona. I was born in Romania in 1986. I had a twin for 19 days, but unfortunately, my brother died quickly after birth. Throughout my childhood, I noticed that I went through far more illnesses and infections than any of my peers. I was often sick with colds, influenza, sinusitis, ear infections, cystitis, and many others, but fortunately I never suffered from septicemia, nor did I have any ”near-death” experiences. I spent much of my early life not knowing that I had neutropenia. It wasn’t until I was in my twenties when I moved to Italy that I got diagnosed. In Italy, I got tested for antineutrophil cytoplasmic antibodies (ANCA). The test was positive. This allowed me to finally get a diagnosis for my symptoms: autoimmune neutropenia.

My hematologist thought it could be a Behcet-like syndrome apart from neutropenia. However, my ANA, ENA, C1, and C3 complements have all tested negative. I also don’t have uveitis, which is a primary symptom of Behcet’s.

As part of my neutropenia, I get mouth and genital ulcers. I sometimes have problems digesting foods, which makes it a condition similar to colitis. Recently, I suffered from a really trying fatigue and shortness of breath. I had attributed it to anemia, but a renal biopsy proved I had reactive AA amyloidosis involving my kidneys and bone marrow (platelets). I have also had to undergo various bone marrow biopsies because of my severe neutropenia – my absolute neutrophil count (ANC) was below 500. 

What I hate the most about neutropenia is the fact that it keeps me under constant pressure with all the blood tests required and all anxiety they bring. I haven’t been through G-CSF therapy very often because I haven’t had very severe infections – doctors tend to give it only when I have a fever. I used it only a couple of times during hospitalization because I had a fever. I usually took plenty of antibiotics when influenza came or when going to the dentist’s.

I wanted to share my story with neutropenia so that everyone else who is diagnosed with neutropenia would understand that long term inflammation and repeated infections can, in some cases, after many years, lead to renal failure. In order to prevent this, neutropenics and those with inflammatory conditions must control their serum amyloid A (SAA) protein by running a simple blood test.

I really hope other neutropenics have it a little better than me as I have had little social life and have been fighting anxiety for as long as I can remember. Besides kindergarten, I did attend a regular school, but I missed many classes when I was little because I constantly had influenza.

My hope is that one day, researchers will discover a treatment other than G-CSF – or even better, a cure – for neutropenia.