The Long Road
Our story really begins with our daughter, Grace.
She was born with multicystic kidney disease, which left her with only one left kidney. We learned this when I was pregnant with Grace and until she was born we did not know if it would go to the other kidney and whether she would survive. I had Severe Hyperemeisis and it was by His hand, she and I are here.
She arrived and looked perfect. Her cysts eventually disappeared and she was put on prophylactic antibiotics. Soon after we stopped the antibiotics, she became ill with Strep throat at the age of 7 months.
This infection went on, along with thrush and mouth sores. She dropped in weight from 95% to 5%. The doctors were unsure of why she was unable to kick the infections. With immunzations she became even more ill. Finally Rafampin was prescribed and after losing much of her body weight she kicked that infection. It was just a week later and another infection was back, this just keep repeating. By the time she was one, she had CMV, Epstien-Barr and Parovirus B-19. Her teeth came in with little to no enamel. She also had surgery for a cyst on her eye.
We were scared and frustrated. At this point all she was able to take in was my breast milk. We finally took her to our original doctor that had been added back to our insurance. She noticed right away that Grace was severly anemic, but since her nutritional status was poor we had thought that was the reason. She also found that Grace was neutropenic. This was a word we knew little about.
Chris and I were both trained in health care but still we were not doctors. We were sent to the Children's hospital and a bone marrow biopsy was done. We were told she may have leukemia or cancer. We waited all night until the report came back. She thankfully did not have cancer but clearly her bone marrow was not normal. She had severe neutropenia and anemia.
She was to be isolated from any large crowds. After months of waiting to find out what she had, we decided to take her to Mayo Clinic. Looking back, this was not the place to take her but at the time, it's all we knew. Tests were run and the first of many misdiagnosis were made.
We were told that she had Autoimmune Neutropenia, a neutropenia that she might outgrow, although she did not fit the disease and was more severe, we were given treatment of Intravenous Immunuoglobulins(IVIG). She did not respond to this at the time.
I had been researching and learned of the Severe Chronic Neutropenia Registry and contacted them. Grace was accepted since she was severe( meaning her neutrophil count was under 500) She started GCSF injections every day and after a while she started to do better. She still got sick but not as bad or as often. These shots were around $300.00 per day and since she was in the study, we received them free.
She suffered from extreme bone pain and I often sat up nights. She was diagnosed with osteoperosis and osteopenia . We were assured this was not genetic and that if we had another baby we could save the stem cells from the umbilical cord in case Grace ever needed them. This in no way is the same as embryonic stem cells. Chris and I do not support taking one life for another. We believe our children's lives are also worthy of value. God loves life and all efforts should be made to save it, no matter the cost!
So five years later our Samuel was born. Right from birth he was neutropenic. This changed everything, it meant this was a congenitial (genetic) form of neutropenia. From my research I knew my kids could die.
We were devastated. I think it took months for it to really set in. Samuels counts ranged from 200-1100. He had less illness but when he got sick it was big sick. He had sepsis, staph infection, and a massive lymph node infection that he's still fighting today. He also has the lowest cellularity along with hemolytic anemia and t-cell abnormalities. He too suffers with mouth sores, thrush and dental cavities. Bone marrow and blood draws, doctors, hospital, illness and bills became a major part of our life.
He too was put on daily shots and we no longer get these free of charge. We were struggling and finally hit rock bottom. After Samuel birth, it was then I knew all those illnesses and hospitalisations my oldest son had, were connected.
Deep in my heart I knew our oldest had it too. When he was born, he was a month early and sick often, we took him over and over again to doctors, EVERYWHERE in our town of Kansas City and were told over and over, he was a premee and all his illnesses were due to that! We didn't just stop there, I talked with EVERY Neutropenia Doctor in the US and abroad, Drs at the SCINR and begged him to be looked at, to have a bone marrow and we were always meet with the same answer, we had been stuck by lighting twice but no way three times! Even if the younger two had some genetic disease, Jake didn't have Absoulute Neutrophils below 500 and therefore wasn't considered neutropenic. He did have some under 1500 and a few under 1000 but again and again we Pleaded for him to have a BONE MARROW, you CAN NOT MAKE ANY DOCTOR DO ANYTHING! Very SAd! He was diagnosed failure to thrive and I just could not bear to accept that he to had the same fate. We had asked doctor's if he might have it too, but they said no way. It wasn't for another three years until he was tested and found to have mild neutropenia.
Jake has more G.I. problems than the other two. He has inflamation of the small intestine, eosinoplhils in the gut and many bacterial infections in the stomach. He also has GERD which effects his stomach and his teeth. He cycles from normal to his lowest anc count at 920. He too has red blood cell problems and all three cell lines in his marrow are involved if they reach the blood, he too will need a transplant. We pray since he is the mildest bone marrow wise, he will be o.k.
Written, long before we knew our oldest was so sick.
Finally, we began to seek other care in any place we thought might know about our kid's disease. We traveled EVERYWHERE and spent EVERY penny to find out what our kid's have. We traveled to St. Judes, Seattle, SCIRN Registry and Salt Lake, Primary Childrens and Iowa all who were SPECAILIST in these disease, yet only one ran any tests and those tests later found to be wrong. Finally, after Jake had a marrow done and it looked the same as the other two, would we travel to St. Louis to yet another specailist and were told doing a transplant early before it went into MDS or AML was thought to be the best with low intensity chemotherapy. We had one more stop, Duke in NC and that is where beyond a showdow of a doubt we were told all three kids had a genetic bone marrow failure disease but still wasn't sure which one, though thought to be Shwachman-Diamond Syndrome and because my two youngest were neupogen dependent, a transplant needed to take place, we began saving money with Childrens Organ Transplant Fund until our church stepped in and took over. I remember giving the paper work from Duke to our pastor which said the transplant would be 1 million plus and we needed two, possibly three and would have to raise 200K per child witch was our portion of the insurance. I will never forget what he said, well they can't just let them die if you don't produce the money and at the time, a young ten year old in a town very close to us where my inlaws still have the newspaper articles, telling of a boy who needed a stem cell transplant in Minnesota and had to raise 300k or would not recieve the transplant, he died. People keep saying there must be something from the government, or somewhere but the cold hard facts are, children die everyday, fighting insurance companies or never given a chance due to their lack of insurance or companies who don't want to pay for the high cost and while doctors fight, people die. We had two, maybe three at were looking at 600k total per child! That is a lot of money.
We prepared to move having no luck or trust at any hospital near us or they didn't even try to help us so we left all we had behind, including our home, stayed in a travel trailer, not handing it off to the bank, no ball outs for us, waiting for it to sale. We were blessed with a strong community and church who worked so hard and family and friends in preperation for a transplant. My husband walked away from a buisness he had ownership in and had worked from the ground up that would later have made him a rich man but who wouldn't? A home on a lake in a middle class life with a boat and a dock, to save our kids.
Once at Duke we soon started to question what we had gotten ourselves into. More and more research surfaced about the low intesity chemo and with Grace in particluar having one kidney, which we are told still to this day has nothing to do with the other diseases, would need to have. When about a month before the transplant finding they intended to use a chemo that was dangerous and hearing of a doctor in Cincinnati Ohio having better success rates, we made a trip there weary and uncertain anymore of anything. It would be there we would find our kids had a lot of Immune issues as well as bone marrow and would require IVIG. Introvenous Immunoglobulin in addition to neupogen injections. I would drive up every month, still uncertain if this was the right place. For months three kids were in three seperate hopital rooms and finally we got insurance to allow treatment at home of Sub Q IGG! This makes our life much easier and bone marrows would indicate while we could go early, the chances were not worth the risk and we would watch them carefully and stay with Dr. Harris who we love to this day. We are also grateful to our Duke team who first took the time to go through every single record we had on the kids!
Chris and I have known each other since kindergarden. We were high school sweethearts and had many hopes and dreams.
We would not have realized, we are living our dream each day we hear our three children's sweet voices had it not been for God leading us to our church home and growing us in our relationship with Jesus.
We depend on him daily to keep us going and full of hope. Prayer of others for our family, we know is helping us to keep upbeat. We have learned that our dreams and hopes of material things is so insignificant but want to be able to take care of them and enjoy our time with them making memories.
We realize eternity is where our desires should be and we believe our children will be healed! We continue to depend on daily prayer and leaning on His Word. We are still unsure if we will go through the transplant and continue to seek His guidence. At this point we are preparing with tests and hoping for a miracle.