Personal Stories

Written by Amanda LaClaire

I’m her brain, haha. Sheryl’s more creative-minded and I’m more numbers oriented. I have a PhD in mathematics and do medical researching, uh, kind of everywhere. She’s a full-time teacher and understands things like art. That stuff just goes completely over my head. Numbers make sense to me.

(We just have two different kinds of minds is all; I don’t actually mean that I’m smarter than her.)

This is our first time coming to the Conference. Sheryl has idiopathic neutropenia and I’m her sister. We’re both from Pennsylvania, respectively, but like I said, my work requires me to travel. It was a last-minute decision to come here. We heard about the Conference two weeks ago and here we are. Our goal is to see about getting Sheryl’s dose lowered. She’s not as young as she used to be, so we’ve got to take osteoporosis into consideration. I mean, she already has all the markers that suggest she’s likely to get osteoporosis: female, over fifty, white, and the medication at this dosage isn’t doing her any favors.

The start of our journey began in 2009. Sheryl had gone in for a routine colonoscopy, but they noticed in her pre-procedure blood tests that her counts were low. Unfortunately, the doctors dismissed her low blood count believing that she was just fighting off an infection. We immediately set up an appointment with the hematologist. I was not about to let this go. What can I say? She’s my sister and I get protective. Sure, there was a point when we considered she might in fact be fighting off an infection. After all, Sheryl’s a full-time teacher at an alternative school. She’s constantly around children and kids. It would have been entirely possible that she picked something up from one of these students, except that she kept getting sick. She’d go weeks without teaching due to illness. You can’t be a “sometimes teacher,” so it was better to be safe than sorry. Sadly, this hematologist didn’t work out as well as we hoped.

So, began our doctor hopping adventure. We saw a naturalist doctor who had Sheryl on some different cleanses, but that didn’t work. There were other doctors we saw, too. Their diagnoses were ridiculous. One doctor claimed it had something to do with her urine, which I knew didn’t make a wick of sense. I’m still mad at that one doctor who completely dismissed Sheryl. We had travelled essentially the length of New England to see this guy, so we thought he’d be good. The only answer we got was essentially that she should be an adult about it and stop being dramatic. The whole drive home we sat in silence. He made Sheryl cry! That doctor had lost any sensitivity training he learned in med school. It was so wrong.

Eventually, Sheryl decided that enough was enough and we stopped seeing doctors. From 2011 to 2014 she basically just lived her life. I did, too, but she just kept getting sick. That same year, 2014, Sheryl agreed to return to our original hematologist. The original hematologist tested her for cyclical neutropenia because at this point we had noticed some patterns and did our own research via Google. Sheryl didn’t have the right markers for cyclical neutropenia, but she did indeed get diagnosed with idiopathic neutropenia.

Soon after Sheryl received her official diagnosis, our hematologist connected us to a Boston medical fellow who helped us get on the Registry. Now, here we are. Hopefully, we can get this doctor to listen to us and lower her dose. The Conference has been great so far in helping us navigate adulthood neutropenia, so things are looking up it seems.

My daughter was diagnosed in 2006 with Cyclic Neutropenia. In 2009 her hematologist suggested we get her tested for Cohen Syndrome. She came back positive. Her Cyclic turned to Congenital. I uploaded a picture from our Cohen Syndrome Family Meeting this past June. We are the ones on the far left. All the children in the picture have some level of Neutropenia. If it wasn’t for the Neutropenia diagnose I may never have known about the Cohen Syndrome. I waited 14 years for that.

My daughters ANC went to 120 and in 2010 we started Neupogen daily. She gets a CBC every month. She seems to stay around 1200-1500. We did a trial in May of 3 times a week. Her ANC went straight down. My daughter doesn’t speak so it’s up to me to be really aware of how she feels. She has a clean diet, she exercises and goes to school and I let her rest as much as possible.

I always worry but am really cautious. I am on the board of the Cohen Syndrome Association as the Family Liaison for neutropenia. I have registered families at our conference from all over the world. Currently we have about 500 diagnosed and about 35 families registered with the SCNIR. I have worked with Audrey Anna to do this.

I tell it like it is and everyone involved with my daughter knows to contact me immediately.

Neutropenia changed our lives in the biggest way when it led to my daughters Cohen Syndrome diagnoses. I waited 14 years for a diagnosis. Everything I do is to keep my daughter healthy, happy and comfortable. My recommendation is to learn everything you can. And to network with other families. There is nothing worse than feeling alone.

Written by Taylor and Amanda LaClaire

Taylor was a healthy, active kid… until middle school. Around 12 years old, he contracted a severe eye infection that caused his whole life to change. The doctors treated the infection aggressively- instead of focusing on his grades and social life, Taylor was reduced to visiting the nurse’s office hourly for eyedrops. At night, he was waking up every other hour to continue treatment. In the end, Taylor had to have a cornea transplant to save his eye. Afterwards, the doctors discovered Taylor had contracted a common water born infection, one that his body should have been able to fight off. As he would later discover, the infection was not the only culprit.

Soon after dealing with the eye infection, Taylor’s CVC started crashing every few weeks. Doctors would say “some people are just sick”- a response he would hear frequently for several years. By now, Taylor was entering high school. The medical struggle which began in sixth grade seemed to be never-ending. That was until the light at the end of the tunnel appeared. Taylor’s pediatrician happened to attend a conference where he learned about neutropenia, and afterwards suggested this could be the cause of Taylor’s issues. Soon after, his mother came in contact with a woman who knew of The Registry and signed Taylor up immediately. By Taylor’s sophomore year of high school, his dosing of Neupogen as well as his health were finally under control, and things were beginning to turn around.

With his neutropenia in check, Taylor resumed living his life with complete freedom. While in high school, he went on a week-long mission trip to a remote part of Mexico. After graduating, he attended college at the University of Georgia, a thousand miles from home and a trusted doctor. It was a scary moment for his parents, but Taylor managed his medicine well for several years and eventually found a hematologist nearby who would run periodic blood tests. After making it through college without a single neutropenia-related illness, he moved to crowded, bustling New York City. There, he found a well-versed blood doctor who helped him wean off Neupogen completely.

Taylor considers himself very fortunate and referred to the Registry and National Neutropenia Network as “the only reason I’ve able to live a normal and healthy life.” It is this sense of indebtedness, and his awareness of the many people still struggling with neutropenia daily that led him to become a board member.

When Taylor looks back at his teenage years and the roller coaster ride of being diagnosed with neutropenia, he summarizes his experience with a word: perspective. He admits that while in middle school, he thought that everyone else was fine and healthy while he had to carry this burden, but he now recognizes that everyone “has their neutropenia” (their own personal challenge). Despite the difficulties he experienced in the beginning, neutropenia has taught him to persevere and make the most of every situation with the goal of improving it.

Taylor is frequently approached by others regarding his “weaning off” of Neupogen. For a little more background, after many years of taking Neupogen, Taylor’s doctors thought his counts might have leveled off on their own. He underwent several years of close monitoring and regular blood draws, at which point his doctors determined that his counts had in fact normalized and Neupogen was no longer necessary. Taylor’s outcome will not be the case for most people with cyclic neutropenia, and everyone with questions about their own diagnosis and treatment is encouraged to speak with their doctors.

His message to those with neutropenia: Keep your head up and stay focused on your “light at the end of the tunnel”, even though every day can be a rollercoaster. While everyone’s path is different, know you aren’t alone, and the Registry and Neutropenia Network are there to help you along the way.

I have lived with diagnosed chronic neutropenia since 2006. The first signs were fatigue and repeated infections, where I was hospitalized due to infection spreading rapidly.

I currently manage my neutropenia through 1-2 injections of G-CSF per week. I have been on this therapy since around 2015 and it has been life changing, being able to manage my neutrophil count which sits at around 1, which for folks with chronic neutropenia is better than 0.04! I can tell when my counts are dropping as I become faint, very sleepy, and just don’t feel right. I have regular blood work as well as a bone marrow biopsy every 3-5 years. If I do not feel well, I go to hospital.

Rest, eating well, and walking are things I do to try to stay healthy. I also focus less on me and more on being a ray of light in the world through meaningful work, friends, and motherhood.  I have a supportive husband, close friends, and family- all of which helps greatly. My family is supportive.

Pain can be an issue due to the side effects of G-CSF injections. Taking the injection at night helps some hat to sleep while pain is active. In addition, taking Panadol if needed since I also have arthritis to manage.

Fatigue can be an issue. I am a coffee fan, so that helps- even if just pretend! I have learnt not to try and be too perfect-just do your best. I can’t get rid of chronic neutropenia but it’s managed.

I mostly don’t talk {about my Neutropenia} too much. When I was unwell, it was harder as I was off work, sick at short notice, and it was stressful. Then, I felt really sick a great deal of the time.

It can be confusing as I look well, even when I have been very ill and in the hospital.  I can look glowing with health. Explaining it to my daughter was particularly important when not well managed as it meant I needed to sleep a great deal when not working just to have enough energy.

Having neutropenia can at times make me think about death more than others especially when it wasn’t well managed I didn’t think I would live this long! Now 42.

 There were times when I was close to the edge due to severe infections attacking organs. Since having G-CSF it has seriously improved my quality of life.  I am working full time and engaged in my career.

 I went on to have a second child in 2021 and took G-CSF throughout the pregnancy. Although I was ill and considered high risk I went to 37 weeks.  I didn’t have as many fears of infection at birth as I took G-CSF on the day of birth and gave birth naturally. Both my children thus far haven’t inherited chronic neutropenia although my daughter does have an autoimmune disease.

I have learnt I thrive best when I’m sick of my own story, to be interested in the story of others. I am interested and focused on bringing support, kindness, and improvement to others.

I am at a point where I am dreaming again having another child. I feel less like I have a short time to live which means I’m thinking longer term and have plans such as making a garden and wanting to plan for the future with my family which is exciting. Now I try to manage my chronic neutropenia rather than it taking up the main stage.

Written by Sally and Haley Welch, volunteer

“If I was paid a dollar for every time I was told that ‘no one has long term severe neutropenia,’ I’d be a rich woman.”

Sally, a woman in her 40s from London, has dealt with neutropenia her entire life – but for more than 20 of those years, her condition has been a mystery to her. The constant severe infections and attempt to justify them with various aspects of her lifestyle left her feeling estranged not only in her own body, but from the confusion of peers and medical professionals alike.

If you haven’t heard of neutropenia, you’re not alone – it’s an extremely rare illness that affects fewer than 1-2 per million people worldwide. Being diagnosed with neutropenia means that the number of neutrophils a person’s body has circulating through the blood is significantly lower than that of a healthy individual. Not having enough neutrophils means that a person is much more prone to infection than the average individual – and when a person with neutropenia does get an infection, the symptoms are far more severe than what healthy individuals experience.

The turning point that helped reveal Sally’s condition to her came in the form of a bug bite. The bite appeared one day on the back of her leg, and it just wouldn’t go away. She recalls, “In fact, it just kept getting bigger and angrier all the time. Within hours of noticing it, I went to bed, woke up and had a thigh the size of a watermelon! A hot, red, heavy, pulsing thigh that was so swollen I couldn’t bend my knee – most unattractive when you’re 23!”

This wasn’t the end of the incident. After going back and forth to the A&E in London, she suffered a ferocious temperature, nausea, and fatigue. Sepsis reared its ugly head, and she had to be taken to a bed in isolation. This triggered an 8-month bout of going in and out of the hospital. “My neutrophils were extremely low, but this was simply noted as ‘one of my symptoms’ and not really taken into account, as ‘no one is severe neutropenic,’” Sally explains.

Sally was finally properly diagnosed when she was referred to a hematologist at another hospital in London. It was a relief to finally feel understood. She says, “The day I found out what I had, I cried – for a very long time. My Mum cried for a very long time too. Living with something invisible and yet which impacts your life in so many negative ways is entirely rotten.”

Though getting the correct diagnosis lifted a huge burden in her life, there are still many obstacles Sally faces. Because neutropenia is so rare, it’s often misunderstood and stigmatized. Sally is no stranger to this. It’s difficult when she finds herself having to explain her condition to others. She shares, “It is so easy for people to either look heavenwards like you’re fabricating some mythical illness that just means you want to work from home or have a duvet day, OR they talk to you like an idiot and think you can’t possibly have a life and survive. It’s a difficult one, as I’m one stubborn human – I kind of like that side of my personality, but it also means that often inwardly I’m screaming because I hate having an illness I have no control over, and when it strikes, it can render me very fragile indeed.”

Fortunately, Sally’s workplace is incredibly understanding of her condition. But this isn’t the case for all people with neutropenia – and Sally, alongside the National Neutropenia Network, aims to change this. It’s hard to raise awareness for a disease that is so rare, but that only gives a stronger incentive to those who live with it.

Treatment for a disease of this nature is difficult to cater to the individual, but it is possible. Sally gets periodic Neupogen G CSF injections that allow her to take control of her neutropenia. Finding the sweet spot for injection frequency took years to calibrate, but Sally was finally able to find what worked best for her.

The injections solve a mighty part of her struggles, but Sally must still fight the disease with humility and courage. She shares, “There are times I have to sleep my entire weekend away or just hit a wall physically and fall into an utterly imperfect mess of a human. I allow myself these times, but this has been hard to swallow when I have to let people down last minute because I just don’t have the oomph to be sociable or put on a front. I have worked full time in a stressful and intense job for the entire time since my diagnosis – I will not let this win and I will not give in!” She has also follows a healthy diet loaded with veggies and fish.

Today, Sally manages her neutropenia well. She exclaims that she has officially achieved “Neutropenia Rockstar status!” She does note that the side effects of the medicines she takes have intensified as she gets older. “I can sometimes only manage hot tears on a particularly bad night post-injection. I take them on a Friday, so as to limit any interruptions to my working week, and, on occasion, I get fierce flu-like symptoms – a spike in my body heat that’s uncontrollable, my body stiffens and I can’t fully extend my limbs, I feel like hot knitting needles are being spiked into my long bones and sacrum, and I shake uncontrollably.” Sally’s husband is aware of the effect these episodes have on her, and he knows how to help her as best as he can. He gathers plenty of blankets and speaks calming words to ease her pain. When she can’t sleep after an injection, Sally will listen to Michael Sealey’s sleep hypnosis, which helps her shift the focus from the pain her body is in to the soothing voice in her earbuds.

“I tried for many years to ‘be normal’ as I didn’t want any judgement for having a chronic condition – especially one that is so utterly unknown and rare. I now tell those who need to know, and I also share a link to the National Neutropenia Network website so they can educate themselves. It’s important to spread the word, as we may be a small minority, but this is an illness which is long term and needs careful management and understanding.” Sally credits her Mum for being her biggest supporter from the start. She has never failed to be by Sally’s side and know exactly what to do at every step throughout her journey. She is incredibly grateful to her employers for being more than understanding when she needs to complete her workday from home.

Sally readily shares how neutropenia has changed her life. “You have to adapt – it’s not a choice. But adapt is the word – not give up or give in. This is a long-term sentence and it is incredibly daunting, but it is manageable, and with the help of us all, it will become more known, understood, and supported. I have found inner strength that I never knew I possessed. I have become less afraid to simply say ‘no’ if I can’t muster the energy. I am less fearful of offending or upsetting friends. If they are friends, they will stay by your side and understand, and hey, maybe even turn up at yours instead with a bottle of wine and their pajamas! Don’t hide the fact you live with a chronic condition, but also don’t let it define you.”

Sally’s resilience and transparency not only make her a Neutropenia Rockstar, but a necessary catalyst for the visibility that neutropenia needs.

Written by Brian and Haley Welch

Meet Brian. He’s a 65-year-old from Epsom Surrey, UK. He has a wife and three sons. He’s dealt with autoimmune neutropenia (AIN) from a very young age.

He first noticed something different about himself when he was young – he got infections every time he would cut or graze himself. He remembers that his dad used to put a hot poultice on them for a while, cut the wound with a razor blade he’d boiled, squeeze the poison out, and put a plaster or bandage with Germolene on it to clean it. The technique worked for the time being; the wound would always clear up, so Brian never had to go to the hospital.

However, Brian’s infections persisted into adulthood. As he grew up and broke into the world of work, he began to get mouth ulcers in addition to his normal infections. During a dental appointment in his thirties, his dentist found one that was alarmingly large inside his bottom gum. The dentist told Brian that he may have a blood disorder. This was the first time Brian was told that he needed to seek medical advice.

Brian’s general practitioner sent him to his local hospital for blood tests. When his results came back, he was told to go to the hospital so that he could go through them with a hematologist. They also told him to bring his wife. He prepared for the worst.

When Brian and his wife arrived at the hematologist’s office, the doctor greeted them. She appeared grim, which only heightened Brian’s anxiety. After exchanging formalities and chatting a bit about blood tests, she told him that he had leukemia. She informed Brian that he had a very rough time ahead of him with chemotherapy and a horde of other tests, but attempted to give him a glimmer of hope by assuring him that there was a chance for a cure since they had caught it early enough.

Brian and his wife left the hospital stunned, wondering how they were going to carry this heavy load. Neither Brian nor his wife knew what to say or do.

Until the next day.

The hospital called Brian in the morning and asked that he come back immediately to talk to the doctor. Even though the diagnosis was already awful, Brian and his wife prepared for something even worse.

They arrived together and went straight to the office where they were given heavy news just 24 hours prior. The doctor greeted them again, this time looking worried instead of grim. She broke the news.

She told Brian she had made a mistake in his diagnosis. He didn’t have leukemia. Instead, she told him that he had autoimmune neutropenia. Being a very rare illness, she didn’t expect Brian to know what this meant, so she explained the condition. Brian was actually relieved to find out that the battle he needed to fight was a totally different battle than that of leukemia.

Brian began an entourage of blood tests. They consistently showed that his neutrophil levels were low. A bone marrow biopsy revealed that his body was producing neutrophils, but they were not maturing. Furthermore, the antibodies in his blood were attacking the very few he had.

Today, Brian has regular blood tests at his local hospital. His hematologist, Dr. Lydia Jones, sees him every three to four months and more frequently if he has a problem. He keeps antibiotics and G CSF injections at home if he needs them.

He shares that Dr. Jones has been fantastic to work with. She’s always caring and helpful with Brian and his rare condition.

Brian’s journey with neutropenia is ongoing, but it’s not as unpredictable anymore. He gets fatigued sometimes, but he knows he needs plenty of rest, especially when he gets a cold or infection. And he has a tried-and-true formula: he cooks his food well, exercises often, washes his hands frequently, and avoids crowded places when he can – even when it means staying away from football matches, concerts, or popular pubs.

Brian’s travel is also limited because of neutropenia. He doesn’t go to places where he’s required to get an injection in order to travel to, which narrows the list of places he can visit. It hurts him to not be able to travel with his loved ones. Because of this, he understandably feels like he’s missing out on what life has to offer.

Neutropenia is not easy on Brian. Injections come at a cost. He gets bad bone pain, suffers fatigue, and needs to rest in bed for several days post-injection. He’s had to return to the hospital for a few nights in a row because of a few bad infections. He has even had to pass painful kidney stones throughout his life. This year, though, he’s felt good. He hasn’t yet had any colds to deal with.

Fortunately, Brian works for himself, so he doesn’t need to explain his condition to many people in the workplace. There are only two other people in his office, and they are both empathetic towards Brian and what he goes through. However, it’s still hard to explain to someone who’s never heard of the disease. He shares that it truly is a mission to get people to understand what he goes through. He focuses his energy on those who have an open mind and want to learn about neutropenia.

His loved ones are very conscious of how they interact with him. When anyone in his family has a cold or otherwise contagious infection, they are sure to keep their distance so they don’t make him sick. They know that while the cold may be easy for them to tackle, it has a whole different implication for someone with AIN.

Brian often wonders how he will cope with neutropenia as he ages, but he reminds himself that he is in control of the neutropenia and not the other way around.

Brian has some final words of wisdom for anyone reading his story who has been diagnosed with AIN:

“Keep your hygiene on a high level, be prepared with medication at home, stay away from busy places as much as you can, and talk to your loved ones on how you are feeling. There is no reason you can’t have a happy and active life with AIN. You will have off days, but you just have to stay strong and try to see the positive things and try not to dwell on the negatives. You’re not alone, you’re not abnormal, and you’re not weird. You are just different, and being different is not always a bad thing. It’s hard work at times, but not bad. Good luck to all you wonderful people out there with this very complicated and confusing condition.”