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41 Years ago I was told that my WBC was 1500. Today I am 65 and my counts range from 4.4 to 2.1.

I was five months pregnant with my second child when I was told that my WBC was at 1500 At this time I had my first bone marrow test done to determine if my bone marrow produced the proper number of white cells which,  it did. I was told that more than likely my count would return to normal after I gave birth. It did go up to around 4700 and stayed for a number of years before it began to drop again.

(When I was pregnant with my first child I was sick almost my entire pregnancy. Two days before I delivered him I saw a doctor that cared and said that nothing was consistent my whole pregnancy. Not sure what that meant, as we were in the Army at the time and I didn’t get my med. Records.)

The first doctor that I saw was a Dr. Fine, and then I saw a Dr. Goldfarb followed by Dr. Suresh Katakkar

I have also seen Dr. Richard Rosenberg and Dr. Michael Boxer, with AZ Oncology.

In January 2014 I began seeing Dr. Debra Wong, under Dr. Northfelt, at Mayo Clinic in Scottsdale; my hope was that I would get a doctor that specialized in Neutropenia. I was told that they don’t have any MD’s that specialize in Neutropenia.  Dr. Wong diagnosed me with Benign Idiopathic Neutropenia.  She had me going for CBC twice a week for several weeks. My count would range between 5.2 to 3.1. I have been as low as 2.1 at times.   These counts would be after taking 300 mcgs of Neupogen every other day for the 5 day span.   I no longer see Dr. Wong as her fellowship expired and I felt that I wasn’t being treating any different than any other Hematologist had treated me.

While under Dr. Katakkar’s care I was tested for many diseases and the test came back normal

I had blood work done and then went out and walked for twenty minutes and back in for more blood work to make sure my spleen was working and it was as my count would be higher

Dr. Katakkar, did a second bone marrow test about 18 years ago and it showed that my bone marrow was making the proper number of white cells.

About 7 years ago I saw a Dr. Linda Carl, a Rheumatologist and she was sure that I had Lupus or an arthritis and was amazed when I didn’t

When I was 6 years old I had all of the child hood diseases that year and it took me awhile to get over them, but over all I was healthy the rest of my childhood. Just a cold now and then.

I have tried Naturopaths also to find out what is happening to my Neutrophils and No one seems to be able to find that out.  I have been test for allergies to grains, and was told that I am allergic to most grains.  Wheat, corn, rye, barley, sugar, soy and coffee.  Soy is my worst. Try to find items without soy, good luck. So I mostly eat proteins, veggies, fruits and nuts. Very little gluten or even grains free items.  I eat very healthy and it makes a huge difference in my life.

I feel much better when I don’t eat any of them. They make me very lethargic, and I began to itch within 15 minutes of consuming them.

Thirteen years ago I started taking Juice Plus and eating as much organic products and grass feed beef that I could afford, and find.   I no longer get sick 5 – 6 months out of the year.

I have gone for regular lymphatic work and my legs will feel and look much better, and today I do a daily dry brushing which really help move the lymphatic fluids out of my body.  It has made a big difference in the fluid retention.

I have also worked with an acupuncturist; she helped with my energy level

I have been looking for answers for years and have not been able to find anyone that can give me any. Dr. Wong probably has given me more answers than anyone. I feel like I am not being treated for Neutropenia correctly, and more like a cancer patient.

I am so thankful that my lymphatic specialist suggested that I look into the NIH website to see what I could find about Neutropenia. I was elated to find NNN. Which lead me to the Severe Chronic Neutropenia International Registry.

I would love to finally meet a doctor that can give me answers and treat my Neutropenia. .

I have had blood work done twice a week for months and that does show that I am cyclic and my Neutrophil count ranges from as high as 1.4 and as low as 0.1.

I can tell when I think my count is getting low as I will get mouth sores, and fell more fatigued .  I now take L Lysine daily for the mouth sores, so I rarely get sores in my mouth, but I will get a sore in my nose now and still get very tired.

The past few Januarys I have felt sick around the 11^th of the month and it will last for several days.  I don’t know if this is when my count is at its lowest, since this is around the time that my count will drop, but I feel like it is. This does not happen every month.

Dr. Wong wanted me to do Neupogen injections every other day for three days around the 25^th of the month in the hopes that it will raise my count enough so it won’t drop so low. This is all well and good if in fact my count drops within the next five days.  (I take 300 mcg)  Dr. Rosenberg wanted me to take 480 mcg) I told him I would not take 480 mcg as it makes me dizzy and I begin to itch all over with  this amount of Neupogen.

In March of 2015, during my visit with Janet Bruce, my Absolute Neutrophils count was at 0.5 she suggested that I have a Neupogen injection. I agreed to do the injection that evening, on March 10, and I insisted on having blood work done for the next few days to see just how long my count stayed up.

March 10, 2015   – 0.5    took a shot this evening.

March 11, 2015   – 1.8     day after shot

March 12, 2015   – 0.8    2 days after shot

March 13, 2015   – 0.6   3 days after shot

I was not surprised at the outcome.

I had been told by Dr. Katakkar that the Neupogen should only be used if I had a major illness and need a surgery. That the Neupogen would only affect my count for as long as I was taking it.   No one had ever done a study to see just how it did affect my counts.

The Neupogen makes me hurt all over, and I am exhausted. This last for at least a week during the time of the injections of 3, 300 mcg every other night for five nights.  I was told to take an allergy pill and extra strength Tylenol before the injections. This will help a little with the allergic reaction that I have to the Neupogen, and it does.

So if I am lucky I have two really good weeks out of the month and this is beginning to suck.  I have asked what the Neupogen at this dose is doing to my body and if it’s not over work my system.  I am told I DON”T THINK SO…  I have asked not to be treated as a Cancer Patient ( of which  I am very thankful I don’t have a Cancer)  but all the Hematologist I have seen don’t know how to treat Neutropenia.   The last 10 years have been very trying as I know that I am aging and as we age we are more susceptible to disease and infections.  Well this is very frightening, and I can’t find anyone that seems to care or can give me answers…

I found out through the network that I should be taking smaller amounts of the Neupogen, but without a doctor to instruct me with this I am not taking Neupogen on a regular schedule.  I will take it when I feel that I am in trouble, which I am sure is harming me more. I am very fortunate that I stay healthy.

I work very hard to stay healthy, so therefore I do. However you never know what is around the corner.

I am so thankful that I have found the NNN and fell that I can finally get the answers I have been looking for, for years. I am so looking forward to finally meeting with a doctor at the convention in Ann Arbor, in July.

Leta’s Memorial

Ten days after our beautiful plump baby girl was born in 1976, the pink tinge around her umbilicus deepened to a mean crimson. Her pediatrician thought I was an over-anxious new mother as I kept calling his office explaining that the skin around my baby’s belly button looked irritated. He finally agreed to see her late on a Friday afternoon. As he peered at her belly, his face grew intense and angry, “this baby is sick.” He scolded. “You’ve got to get her to the hospital. I’ll call ahead. She needs treatment immediately.”

I drove to the hospital in a daze, wishing there was somewhere better to go, someplace beautiful and peaceful where she might heal without medical treatment. They were waiting for us when we arrived and  whisked us right into a treatment room. I couldn’t believe what I was hearing as the resident conferred with a physician outside our door.  “It’s the worst umbilicus I’ve ever seen,” he said. They insisted on hooking her up to an IV and pumping high octane antibiotics into her veins for two weeks.

My husband and I had both been blessed with good health; we had never seen the inside of a hospital. When we finally took our baby home, we believed the worst experience of our life was behind us. We were wrong. More infections followed, more hospitalizations and more puzzled doctors. Finally when Leta was eighteen months old they gave her condition a name: severe congenital agranuelcytosis or lifelong neutropenia. I held Leta in my arms while her hematologist explained how rare her disease was. I finally asked him, “you call this lifelong neutropenia, does that mean she can have a long life?”  He was silent.  “How long?  Do you think she’ll live past her toddler years?”

He shook his head and said, “take your baby home and enjoy her while you can.”

Beating one terrible infection after another, Leta surprised her doctors and defied the odds.  Her mighty spirit and her inexhaustible love of life always prevailed. She excelled in school despite the endless infections that often put her in the hospital, sometimes for months, Leta had an irrepressible instinct for celebration.  She never missed a chance to make a “party” out of the simplest event or milestone.  She loved music, art, drama and writing. She got a big kick out of changing the color of her hair–one autumn after she died it orange, she told her friends she did it as  a safety precaution since it was hunting season in our town. Leta left behind dozens of journals filled with her thoughts about life, and wild collages that reflected her dreams and struggles.

When Leta was twelve, her life was transformed by an experimental drug called GCSF, a true miracle drug.  For the first time ever, her bloodstream teamed with neutrophils, the microscopic warriors that ingest and destroy the ever-present bacterial predators that once overwhelmed her body and threatened her life. She endured bone marrow aspirations and frequent blood draws during the testing phase of the GCSF.  Eventually her hematologist, Dr. Boxer, prescribed two injections a day and Amgen offered the drug at no fee to her and all participants of the study.

The quality of Leta’s life improved dramatically and she was able to join in activities more fully. For the first time in her life she was considered “normal.” During the teen years Leta struggled to find her identity somewhere between the world of the sick and the world of the healthy bodied. “Mom, I don’t really belong in either world. I’m glad I have the medicine, but I’m tethered to it.  My friends don’t understand.” In Leta’s second year of college when she was twenty, we got the tragic news that she had “converted” to leukemia–a bone marrow transplant was her only hope. She approached this daunting reality with a big heart and deep resolve–she would endure whatever might lie ahead in the hopes of getting a new life, free of drugs and free of sickness.

She braved the chemo and its painful consequences for four harrowing months, but her body had been through too much.  The doctors gave their all to try and save her, but it was not to be. On August 25th doctors, friends and family gathered at  her bedside, surrounding her in love as they said their goodbyes. I’m sure it’s the hardest thing I will ever do, saying goodbye to Leta.  The love she brought to us remains strong and continues to be a force for good and joy in our lives.  She is deeply missed.

She touched many people in her short life. Below are some quotes from Leta and from those who loved her.

Leta Quotes

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When she was five, she drew a picture of death, a stick-figure sitting up in bed with arms outstretched. When I asked her to explain, she said, “Mom, life’s the dream; when you die you wake up.” Several times she told me, “Mom, I’m not afraid to die. I’m just afraid of being forgotten.”

Once she was sitting on the sofa, recovering from a terrible lesion and her father came home complaining about his errands, irritated at how they hadn’t gone according to his plans. “Dad, you should be glad you’re able to go on those errands.” She scolded. “Most of life is running errands, you should enjoy them.”

Words about Leta from her friends and family:

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August 25, 2007 marked the ten year anniversary of her passing. I sent a request out to family and friends asking for their thoughts and memories of Leta. Here are the responses.

From her father:

I got to witness her birth, a miracle to experience, regardless of the times it is said. A new human to join the world from a strong and beautiful mother. I got to hold her hand as she died, an unusual experience for a father, the only time I experienced what must be called a state of grace. For twenty one years I got to be her father. I only saw her frightened a few times in all those years. I saw her take dismal days and uncertain people and turn them into happy memorable events. I’ve never known anyone who was so hell bent on enjoying life regardless of the terrors it threw at her, from the day she was born until the day she died, laughter, compassion and joy were her goal. She saved my life, she still does, everyday, it is simple and she knew it. Her daughter to father advice, “You had better learn how to have fun Dad.” She’s right of course, she usually was and her laughter really does still rock.

Louis

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Leta’s sweetness, her courage, her inner and her outer beauty, her humor and her strength blessed and enriched the lives of all who knew her. How could anyone not miss all that? “What I do is me, for that I came”.

Gail Richardson

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I cannot think of a more worthy or more difficult subject. When I first got to know Leta person to person, she could only hold my finger and not my hand. We became cousin-friends quickly. I came to know her as a close friend and relative with the exciting sense that our relationship was growing and on the rise. After overcoming a big age gap, we had reached an age where we really related to and needed each other. It was very comfortable. I do not feel at all uncomfortable in saying that I feel a very personal loss that I could no longer experience that relationship and nurture it and benefit from knowing her. I empathize with you and Louis and Skyler primarily for the tragic loss of Leta, but in a very strong second place, I miss her for the relationship we had together, and what we were building. Sometimes, I just cannot believe that she is not here to share in the MANY fantastic times Justin, Skyler and I have shared over the years. As to anecdotes and memories, when she flew to LA in 1989 (or so), Franny and I picked Leta up at the airport. She was about 11, and was wearing this cute purple back pack, girly hat and cute little kid stuff. She greeted us, and it was very fun. She said, “I am starving, let’s just pick up a burger.” Franny and I thought it was late, and that she was too young and small to munch a burger late at night. But, Leta was so adult acting, so matter of fact, with the colloquial “let’s grab a burger,” that we thought, well the kid must be one heck of a little burger eater. We bought a large cheeseburger, and went home. Leta fell asleep without even unwrapping the burger. It was so cute, big girl hit LA and wanted a burger like a rock star, then fell asleep without a bite. She was just that type of kid, if she said she needed a burger, she needed a burger. Who were we mere adults to question the wisdom?

Lots of Love, Holden

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Leta–Her hair was brown, she chose blue. She could have frowned, she chose to laugh. She could have been careful, she liked risk. She risked, laughed, explored, tried, and had a big life that matched her big imagination. And she showed us the silliness of our careful lives.

Barb Draper

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I have always been touched by Leta’s free spirit and attitude. She was a proud and articulate individual. I love her quote from Shakespeare, “Be there no time delays at dangerous ends”. I also remember how brave and courageous Leta was as she underwent multiple procedures and intensive chemotherapy and with all that, what a joy Leta was when feeling well.

Much love, Larry Boxer

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Inquisitive, laughter, loyalty, beautiful, unique, character, best friend forever, laughed with her, loved her, miss her. How can I forget?  It hadn’t been but a month or so that I had moved to Michigan. We were in the 7th grade. Leta and I were comfortable together immediately. She was so welcoming and had a trusting quality about her. Leta was so small and cute. She smiled all the time and made me laugh so easily. It was like we created our own little world. I know most kids thought we were so out there and crazy…..and we were. We didn’t care though. We just had so much fun. I remember clearly her coming up to me and flat out asking,” Do you want to be best friends?” I thought what a silly way to go about it and how cool and different for her to ask me. Of course I agreed into what was to become the most amazing friendship of my life to this day. We were soul mates. We were inseparable. Leta touched my heart with the best days of my life and the single most challenging day of my life. I will never forget. I will always remember.  Everyday she is with me.

Theresa

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Leta had an electricity about her–Everyone knew there was something special about this girl. She was bold and utterly hilarious. She was my best friend and I will never forget her.

Cynthia

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Leta seemed to understand, especially in her final years, that her parents’ generation sometimes needs to be taught to be young again, so one afternoon she gently and carefully told me what her music was about, what she and her friends liked to do, what was going on in her world. I was very grateful for that privilege. A chance to see the French Riviera, or go to Carnival in Rio or see whales breach in Alaska, these things may come and go, but when the young let you in for a look and a listen, count your blessings. It feels like grace.

Mark

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My most vivid memory of Leta is the spectacular time she spent with us when she was about ten. She flew to California and graced us with her joyous being for about a week. Our whole family had such a good time. We played and played and the kids giggled and giggled. I was so aware of protecting her, yet at one moment while having a water fight in the hot tub the lid came crashing down on her head. I was stunned. She just smiled and took it with enormous aplomb…”No problem!” She would not let herself be thought of as fragile.  Another memory was driving across the Golden Gate with the top down and Paul Simon blasting, “Diamonds on the Soles of Her Shoes”……Leta was singing and laughing and so totally 100% into the moment…the precious moment…. that it was healing to share it with her. I will never forget it or her. What a beautiful child…beautiful human. What a blessing to share her spirit for even such a short time. There truly were diamonds on the souls of her shoes.

Leta we love you.
Nancy, Roger and Naomi

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Little Leta.  That’s how I remember her best, not having known her well as she progressed to young adulthood. I see her now in my mind: a tiny waif wrapped in a white gown too big for her with dark hair askew and tubes dangling from her arms. Incredibly, she walks ever so gaily down the hospital hall toward me, dragging the metal pole to which her medicine bag is attached.  She’s smiling, seemingly happy – no needles sticking her or annoying pain at that very moment. The little princess, determined and resilient, as she continues the task at hand and what will become a natural part of her life. In command of her surroundings, but sadly not of her disease. I wish I would have taken the time to know her better as she grew – this old soul in a young girl’s body. It’s my loss.  As parents, I hope with each passing year that a quiet peace grows in your heart knowing you did the very best you could for her short life…… your love sustained her for the time she was here and continues eternal.

Love,
Mary

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I had a dream that I had just moved to NYC and Leta was helping to move me in. We were sitting in my new apartment talking about funny things that happened when we were younger. She looked like she did right before she went into the hospital, with her hair blonde and shorter. It was funny because I woke up and just felt like you do when you’ve seen a friend you haven’t seen in a long time. Strange.  I was thinking about the time when Leta and I wrote, A Day in the Life of John and Chloey Chia, about the two kids addicted to Ovaltine and it reminded me of how we would sneak upstairs and eat that stuff out of the jar. There were times when we would put it in baggies and walk up to the gazebo in town and eat it like addicts. We would eat it raw by the spoonful. It gives me a stomachache just thinking about it. I guess what I remember best about Leta was her sense of adventure and creativity. We could sit around for hours and make up stories and laugh and laugh. My sisters hated us. We would wake them up at night laughing about our nanny named Tizza that had deer legs instead of normal ones. We even used that for our campaign slogan at school, The New Tizza Deal. We put up signs all over school that said that and no one knew what it even meant, but they elected me anyway!

Nathan

Overcoming Adversity
By Praveena Raman

Excitement is high in the air as young swimmers line up to race free style. Coaches give final tips and parents, encouraging their young ones, remind them of their goals. Suddenly a hush falls as the starter announces “swimmers step up, take your mark…” The swimmers dive into the water and soon a 9 year-old boy pulls away from the rest, swimming strong and fast to the finish. Reaching well before most of the other swimmers, he pulls himself out as his mother brings his crutches. He places them nonchalantly under his armpits and gracefully walks away to join his family.

Grant Beall, like any other boy his age, enjoys a variety of activities. He swims competitively, rides a scooter, jumps on the trampoline and enjoys rock climbing. The one big difference that sets him apart from other 9-year-old boys is that he does all these strenuous activities with only one leg. When asked how he felt at the end of the race he smiled shyly and said “I felt very proud. [Butter] Fly is my favorite stroke though free style is my strongest and I also swim back stroke.”

Grant Beall was not born handicapped and did not lose his leg in an accident. His leg had to be amputated due to an infection. From the time he was a baby, Grant suffered from severe infections. He had been hospitalized for 120 days before he turned five and received many antibiotic shots in his leg to combat the infections. One day in April 2002, when he was five, his leg, which had received more than 40 shots, had a red spot that quickly became sore. When Grant complained of pain in his leg, his mother Sheri took him to the emergency room. The red splotch started growing rapidly and he was diagnosed as infected by necrotizing myofasciitis, or flesh-eating bacteria.

To save his life, Grant’s parents had to make the agonizing decision to amputate his infected right leg. A few days before Grant’s leg was completely amputated, his doctors at Stanford started giving him Neupogen, a recombinant human granulocyte colony- stimulating factor or G-CSF, made by Amgen (headquartered in Southern California, Amgen currently has a presence in Fremont with its acquisition of Abgenix).

At first Kent Beall, Grant’s father thought the doctors were using Neupogen as an off-label treatment. However, within a few months following the amputation, Kent discovered that Grant had been diagnosed with Cyclic Neutropenia for which Neupogen is a well documented treatment. Kent also mentioned that “Neupogen has been well chronicled in medical journals to have a profound positive effect on the reduction in infections, antibiotic use, and mortality for cyclic Neutropenia.”

Neutropenia is a blood disorder caused by low levels of neutrophils – white blood cells that fight bacteria in the blood. If the concentration of neutrophils is not enough there is a tendency for more bacterial infections which could be life threatening.

Cyclic Neutropenia is a kind of Neutropenia which occurs every 3 weeks or 21 days. This condition, when it occurs, lasts for 3-6 days and patients suffer from fever, illnesses and mouth ulcers. Between cycles of ill health the patient is usually healthy. Cyclic Neutropenia is a genetic disease, usually hereditary, occurring in both adults and children and present in several members of the family. The ELA2 gene is involved in this condition and when it is defective, neutrophils do not survive normally in the body. It is interesting to note that in Grant’s case no one else in his immediate family has Cyclic Neutropenia.

G-CSF is one of the treatment options for Cyclic Neutropenia. It raises the level of neutrophils in the blood and lessens susceptibility to new infections. Survival and quality of life for a patient is improved. This has certainly been true for Grant. He gives himself shots of G-CSF in the stomach and has been able to live a normal healthy life. With the help of prosthesis, family, friends and his dog, Grant is participating in most activities others of his age do including jumping on the trampoline, swimming and some activities like rock climbing which is for those more courageous and adventurous of nature.

My name is Dorothy. I am 47 years old. I live 2 hours east of Toronto, Canada.

The earliest to my knowledge that I showed symptoms was in 1993. I had no energy and my G.P. at the time prescribed antibiotics to treat various infections etc.

A new female doctor came in to practice there and I decided to switch over to seeing her. Dr. Collins suggested that I have a physical and routine blood work. The blood work came back with low Iron and low WBC & Neutrophils. She suggested I take Iron and repeated the blood work a few times within the next month. She also did other blood work canceling out many disorders that it may have been. All the blood work came back normal with the exception of WBC & Neutrophil counts. She referred me to a Hematologist. She said that they would probably need to do a bone marrow biopsy. She said to be prepared that they were not pleasant.

The Hematologist told me that he thought there was a possibility that I may have Leukemia. He did say that I would have to have a Bone Marrow Biospsy. I was scared at that point…. But I just resigned myself that I wasn’t going to worry about it until I knew for sure. At the time I was going through a divorce and was taking care of my two children on my own. Working really hard at the time, I had a daughter who had diabetes and was dealing with that on top of court battles with my ex and school for kids, cooking, cleaning, moving, etc. etc. This was a stressful time in my life.

Well the day came and I headed off to the hospital for the bone marrow test. I was directed to the Chemo department. When I realized it was the Chemo ward ………it all hit me like a ton of bricks. I could have leukemia! Things started racing through my head…..What is going to happen to my kids etc. I started to cry. I was suddenly terrified. I now had time to think of me….. oh no.

I got through the test. Dr. Collins telling me that it wouldn’t be pleasant was definitely and understatement ….. it hurt like hell! I went home and slept the rest of the afternoon. Probably just from the crying.

A few weeks later I went back for the results. I was told that I didn’t have leukemia and I was sent home. I was so relieved that I continued ignoring all the illnesses and infections.

I ignored the horrible fatigue even after falling asleep driving and being in a collision. My daughter and myself could have been killed along with others.

As well, I needed surgery on varicose veins due to clots in my legs. I had the surgery and ended up with my whole leg becoming infected. The next year, the other leg had to be done. Guess what, it got infected as well. I had to be put on the intravenous antibiotics for the second time.

Later, I was treated for 6 months with antibiotics for a skin abscess on the calf of my leg. My GP couldn’t seem to get rid of it. I decided there was something more to this and called up the vascular surgeon. He gave me more antibiotics and I had to go in weekly to have the hole cleaned out and skin removed. It was so deep that the doctor said you could see my leg bone.

I moved in 2001 and ended up with a new younger doctor. I was still getting the usual illnesses, chest infections and asthma attacks. He ran some blood work and noticed my Neutrophil count was at 500 (.5). He followed it up with more blood work ……….. my neutrophil was then at 400 (.4). He then got me into another Hematologist. This one was Dr. Davidson. He did all the usual blood work as well. He then followed it up with blood work every couple of days for a month (checking for a cyclical pattern). I continually suffered chest infections and mouth sores and I was averaging one visit a month to the hospital for asthma attacks at this time.

There was nothing normal in my blood work. I was sent into the chemo ward for an iron infusion. I was better able to deal with going to the chemo ward this time. A few weeks later after the iron infusion my blood work looked good with the exception of you guessed it ….the WBC and Neutrophils. The neutrophils stayed around the 200 (.2) to 400 (.4) mark .

Another bone marrow biopsy was done and this is when I was diagnosed with Severe Chronic Neutropenia – Idiopathic. Finally, I knew what it was. Or did I? I thought I was confused before. I am diagnosed with something that no one has ever heard of, a truly orphan disease.

This is when I started doing my own research. I found and contacted the SCN Registry. Now I was starting to get information on this rare disease. What a resource to have available for information on this rare condition.

After diagnoses I started requesting copies of my blood work (I could only get as early as 1993) I was shocked to find that even as early as 1993 ….. I was showing Neutrophil counts of 38 and 500 (.5) and nothing was being done about it or was I even being made aware of it. It seems no one knew what to do with this information. They just seemed to scratch their heads and dismissed it.

Dr. Davidson then referred me to Dr. Wells and the Sunnybrook Cancer Centre. He is a Hematologist / Oncologist. Dr. Wells specialized in MDS and is in research also.

Doctor Wells was sure that all the fatigue and weakness I was feeling was due to a thyroid issue. I had other doctors think the same thing in the past. He did all the usual blood work canceling out thyroid issues. He threw his hands up and said “I don’t know”. I was continuously sick and had mouth sores. My Neutrophil count was at 200 (.2) He put me on Neupogen .33 every other day. This resolved the infections. But, boy the bone pain was horrible. Head aches that felt like continuous migrains. Pain in my arms and legs …. But, I wasn’t as tired. At least that is something.

Dr. Wells has been following me now for several years. I was made aware of things that were said over these past years that he thought I had the beginning stages MDS.

Well, Last summer I had the opportunity to go to Ann Arbor Michigan for the SCN Registry Family Conference. Wow, I was amazed at the amount of information that I had come home with. I even had a 15 minute private consultation with Dr. David Dale. You can’t put a price on that. He said that Idiopathic Neutropenia usually had Auto immune undertones. This would explain Osteoarthritis I have in Seven Locations. A couple more locations may be there now. I haven’t told them about those locations yet. Sometimes I feel that to tell them doesn’t make a difference. Why bother?

Well after coming back from the conference I put a call in to Dr. Wells. I told him that the Registry recommended daily injections at lower doses and told him what I had learned. He then started me on daily injections. It really helped with the bone pain.

He also told me that the only way to be really be sure that I do not have MDS is to do another bone marrow test ….. this time Cytogenetic testing. This was done by Dr. Wells.

Three weeks later I was at the cancer centre preparing for my 3rd Bone Marrow Biopsy.

The results of which were …. I did NOT have MDS. or AML. He was surprised that it is Severe Chronic Neutropenia as a Primary. I am his only patient with it. I guess we are all learning including the doctors.

He wouldn’t commit to the fact that I won’t need anymore Bone Marrow Tests. He said “never say never”. I told him that I want to be put asleep if I ever need it again.

Since being on the Neupogen I have felt “healthy” I am not sick very often. I seem to be maintaining an ANC of approx. 1,500 (1.5) or slightly higher. I do get the side effects of bone pain, stomach issues, weakness, some hair loss (thinning). But, my quality of life has increased. But, I will never be the way I was.

I am not without fear of the long term effects of Neupogen, and they are still learning about, this little known and under-funded and under researched condition.

During the months of October and November in the Year 2006 my three year old son Collin became very ill. At the time, he “looked good” to everyone but me — not a broken bone…not a wound on him…but something about him didn’t set well with me. I sat for hours at night holding him — many nights he had a fever but many nights just unexplained pain which caused thrashing and crying in the middle of the night. In the morning, bleary-eyed and exhausted, I would wake up and realize he was as tired as I was. I was scared, worried, and at a loss for answers.

Seeking answers, comparable stories, I found none that made me feel better in my neighborhood and surrounding area. Neighbors told me my son was “manipulating me” by crying and finding me in the middle of the night but they just didn’t see what I saw, they weren’t living with him, they didn’t experience his pain. I also sought advice from my pediatrician. I thought I had chosen a doctor that was good for my son, his advocate. Being a mother of five children herself, I thought she might understand “mother’s intuition.” She didn’t. On numerous occasions, told me Collin looked “like a little linebacker.” That he was as “Healthy as any boy could be.” “I can’t give him antibiotics for a virus.”

On one particularly stressful day, something my mother told me came back to me. When I was growing up, she told me that I, too, was sick as a child. She went from doctor to doctor until she found someone she trusted. She said she went through at least eight pediatricians until she found one that agreed I didn’t look “well” and that if she thought there was something wrong with me, well then, there was something wrong. Knowing my mother did this for me gave me the courage to look for another pediatrician for my son. Hindsight, this should have been a “no-brainer” but this was my first child, pediatricians know what they are doing, right??

I came up with the name of another doctor a few blocks up the road and made an appointment with both (past and new) doctors on the same day to see if the outcome would be the same.

My first appointment was at 11AM. Again, they found nothing wrong with him and told me to go home and rest. The second appointment with the new doctor was at 4PM and the visit was very different. The new doctor, named Dr. Michelle Fiscus, looked in his ear and told me Collin had a retracted ear drum. However, he was in so much pain that he started holding his ear with his shoulder. She sent us to an imaging center for an emergency CT.

Collin was incredibly brave. Technicians strapped Collin to the table, and started telling him how good he was being during the procedure. I remember his little hand holding mine and telling him not to be scared while tears ran down his cheeks, his little mouth curled into a frown. My heart broke as I listened to him tell me, “I’m OK Momma” and he didn’t want a toy for being a good boy any more, he just wanted to go home.

I wasn’t leaving the Imaging Center without seeing what the scan looked like and stood in the hallway waiting to catch the doctor as they came out from behind the “Oz” curtain. He took pity on me and pointed to the computer monitor. It, in fact, showed there was absolutely no air moving in his ear all the way down. Collin was deaf in his right ear because of a small amount of liquid trapped between his ear and throat. Confirmation. The ENT would definitely be interested in seeing us. My son cried on my shoulder and held on to me for dear life.

We made an appointment to see an ENT. I was expecting to hear that Collin needed a tube inserted in his ear but the doctor gave him the official diagnosis of Otitus Media, Collin would also have to have his adenoids removed at the same time. His surgery was scheduled for two weeks out as the ENT wouldn’t do surgery on a boy with an inflammed ear — it had to be drained. Prednisone did the trick — within two days, Collin could hear! The surgery was scheduled for the early part of December 2006. As Collin was wheeled away for the surgery, Chris and I huddled close in the waiting room, patiently waiting for the surgeon to come in an tell us the surgery went well. He came, the surgery effortless, he expected recovery would be the same.

This is where the car left the road…

Collin did wonderfully for two days post surgery and then he took a dive. He was springing fevers round the clock and looked gray in appearance all the time. He had mouth blisters all over his tongue and insides of his cheeks. The nodules on the back of his neck were as large as an egg.

Collin also starting to complain of leg pain. Leg pain??? What does a leg have to do with Otitus Media and the removal of adenoids?? I was stumped. Day after day he wasn’t getting any better and the leg pain seemed overwhelming. I remember walking downstairs with him and looking down to see his toes curled under in a way I had never seen toes curl before…they were actually curling under due to pain. He was, of course, crying and the realization that these were symptoms of something bigger dawned on me, something way more serious.

I picked up the phone and called the pediatrician, she told me to bring Collin in the next day. Collin, used to walking around with fevers and generally looking a different shade of gray, walked in and played on the exam table. She didn’t agree Collin looked bad but did seem to understand when I told her that he wasn’t “acting like he’s supposed to…” She performed a CBC with differential in the office and told me she would call back later that night.

When the phone rang that night, it wasn’t the voice of good news. It was the voice of one worried mother to another. She told me the CBC had come back abnormal, the worst ANC she had seen in the history of her 13 years of medical practice.

She explained to me what an ANC was and that he showing a low level of neutrophils.

I heard but didn’t understand.

What the heck is a neutrophil?

ANC? What?

Dr. Fiscus told me to come in the next day for another blood draw. We did. Again, the CBC came back with a lower level of neutrophils. Again, the phone rang that night, “This could be bad” she told me. “I’m looking at all kinds of viral suppression — I’m running a mono test, a uric acid test, and, you should know, that will tell us if he has cancer.”

“CANCER!???”

“I’m contacting Vanderbilt’s Hem/Onc Department for consultation on your case.”

What the hell is HEM/ONC??

“You may end up at Vanderbilt Hospital if his fever goes up again.”

Over the course of the next 24 hours, his fever, again, pitched to 104 and we were given orders to get to Vanderbilt “IMMEDIATELY.”

My husband and I hit the hospital by 7PM. Dr. Fiscus had already called ahead and we were treated like Elvis when we walked through the front door. You know, you always wish there could be some way to speed up the process of check-in at hospitals, but when it actually happens, it kind of freaks you out. Stuff was thrown out of his work-up room as it was not considered “sanitary” for anyone that was “Immuno-Suppressed.”

“Immuno-Suppressed”?

The doctors and nurses kept talking about the Mylo-Suppressed Unit on the 4th floor. We waited for a room to open up.

It was 10PM by the time we got checked in to the room and a band of three doctors came in to speak with me about Collin. They spoke to me as if they knew for sure he had Leukemia or worse. His situation was SERIOUS and we were in for the fight of our lives.

Collin was put on the strongest IV medication available to man with the hopes it could help with infection he was dealing with. During this time, Collin was listless and feverish. I slept in the bed with him and felt the need to hold my hand on his heart so I could tell immediately if it stopped beating. This is how serious this situation was, we almost lost him due to an infection that his little body couldn’t handle.

Each morning we woke and were given the news that his ANC had fallen to a lower level overnight and they couldn’t explain why. The doctors came and told us the list of how things were going to happen but also the list of what they thought he had.

80% it was Leukemia 15% it was be Aplastic Anemia 2% it was be some rogue virus 2% viral suppression 1% something unidentifiable at the moment.

They braced us for the bone marrow aspiration and we talked about survival rates of each possibility. Things moved in slow motion, people kept a stuff upper lip, and the whole time, all I wanted to do was cry. To know what I knew but act like a grown up was just more than I could handle. I was expecting things to start melting into the walls — the experience was surreal.

The bone marrow aspiration was intense, my husband stayed in the room with Collin during the procedure but I was crying on the floor outside, I slid down the wall and just sobbed. It wasn’t the procedure, in and of itself, it was the gravity of the procedure. Whatever was wrong with Collin, we were within 72 hours of knowing what it was now.

The test results started rolling back in and, initially, hopefully, the first signs didn’t show Leukemia. So, we waited again for the next set of results to roll in, and were told, “it’s not aplastic anemia.” They did as many virus tests as they could think of and all were coming in negative. Lead doctors at Vanderbilt were stumped. Stumped. Ok, so now we were down to the 1% of the “unidentifiable.” They started chromosome testing and let us know the situation and testing could still come back “catastrophic.”

The doctors used every minute of that 72 hour timeframe. I hated it.

The lead Oncology doctor came in and sat down to give the last part of news….

He told me and my husband to sit down and listen — not to ask questions — but to listen.

“I don’t get to give many parents good news at the end of this process, so I wanted to come in and give you all the news…”

“We believe your son has a rare blood disorder called Autoimmune Neutropenia.”

Ok, Where is the good news here? Are we missing something??

Obviously.

The doctor, still using medical terminology we didn’t understand, was assuming we understood every word he said. He was wrong. It wasn’t until he got to the last bit of news when he said, “He can be treated at home, with the injection of a subcutaneous medication but we don’t know the dose of the medicine he will get, we will need to work it out over time.” “We will start injections this afternoon and see if his white counts increase overnight. If they do, he definitely has Autoimmune Neutropenia.”

The first injection was given. By the next morning, Collin’s white counts doubled and he was back on his feet. We were instructed how to give injections to Collin and when we passed muster on this task, we were released from the hospital.

The lead doctor came back just before we checked out of the hospital, “So you understand, there is an 40% chance your son will grow out of this condition all together but that will take time.”

The last thing we said to the doctors was “so, he might be fine (with medication) after all?”

The doctor laughed and said “He has a very good chance.” He stood up and told us that in his entire career, he has only given parents good news twice. We were some of the “lucky” and we would come to see that later.

Dr. Fiscus called and officially kicked us out of the hospital right before Christmas.

Over the next few weeks, we were told to come to Vanderbilt’s HEM/ONC Clinic for Blood Testing so they could adjust the level of medicine. At this point, we were deep into the Christmas holidays and were having trouble with follow up test results, things weren’t moving fast enough for me or for Dr. Fiscus. My pediatrician was kind and understood. She took things in her own hands and we worked together to get the medication leveled out. Finally, around the middle of February, he leveled out. Over the next few months, I wondered if giving Collin a daily, smaller shot of medicine would be a better idea and asked my doctor about it. She told me she didn’t know but would research things.

I kept researching and reading articles, my pediatrician was doing the same…she found the name of Dr. Dale in Seattle, and the Severe Chronic Neutropenia International Registry. She helped sign Collin up for the SCN Registry.

Within a month of making contact with the SCNIR, I received my first National Neutropenia Network Newsletter and realized the family conference wasn’t too far away. I also read the leading researchers would be at the conference and would be able to give advice for patients with Neutropenia.

There was only one person I wanted to go to that conference with…my pediatrician. I asked her to go and, surprisingly, she kindly accepted.

In July, we packed up and went to Ann Arbor, Michigan where we met everyone for the first time. The leading researchers were in the room, so close I could hug them (which I did on numerous occasions).

We heard presentations. We asked questions. We took pictures. We made contacts.

To be completely honest, I was dealing with a severe lack of confidence in the whole matter of taking care of Collin. Depression was definitely hitting me and I went to look up the symptoms of “post-traumatic stress syndrome” and had every symptom. I learned how to do the shots at the hospital but when it came time to do the shots at home, the idea of having to do the shots just about killed me.

I didn’t want to hurt him any more and felt responsible for being the one who put him through this whole ordeal. I should have changed doctors earlier, I should have asked more questions about the blood tests before they got serious but didn’t — how would I have known?? I didn’t understand it at the time but I felt a huge loss. Loss of what? I’m not quite sure. Couldn’t put my finger on what it was that was bugging me. I couldn’t stop holding him, I couldn’t stop worrying about him, I couldn’t stop thinking about him. I couldn’t sleep. I couldn’t do anything normal, just felt that I was standing still.

I was a misery to be around and started removing myself from my friendships and everyone that loved and supported me.

It took me six months to start moving again, and I believe the only thing that really saved me was the kind support from my husband (who was able to administer Collin’s shots) and the support I received from my pediatrician, who had, thankfully, become a wonderful friend. With their help, I started realizing I didn’t lose ANYTHING. I gained a healthy kid (with the help of medicine) but I needed to be thankful for what I HAD, TODAY. I am lucky. Collin is lucky.

I pulled myself up and started moving forward. Finally, progress!

I feel like I now understand how to take care of Collin. I faced my fear of giving Collin shots and forced myself to give them to him until I could do it without dreading the process or using him as a dart board.

I still have questions occasionally but feel like I have a true advocate — Dr. Fiscus. I also have the strength of my husband Chris to lean on when I need to but feel as though we have returned to somewhat a “normal” life, just different.

I started laughing again. My sense of humor has returned. I stopped yelling, purposely. I started praying again and realistically baselining life’s expectations.

I still have doubts sometimes about how to care for Collin but have more confidence in making things up as I go along.

Collin? He takes his shots every day like a champ. My pediatrician and I made the decision to do a smaller daily dose of the GCS-F. He doesn’t think too much about going in to see Dr. Fiscus for CBC’s, they are as normal now as they can be. He loves preschool. He has a best friend. He loves to dig in the dirt. He likes to use words that make my eyes roll. He doesn’t come find me any more at night.

I still find myself wandering into his room to check his cheeks and forehead but feel like that might be something I will deal with when the time is right.

Collin is getting ready for Kindergarten.

He’s making progress, but he never stopped.

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.