Living with Gaucher:
Let us introduce ourselves: we are Rick (dad) and Gloria (mom) Loncharich. We would like to tell you about our daughter, Danielle.
Tuesday September 9, 2003 was a day that changed our lives forever; one that was like no others before. It was to be a routine day, like the many pediatrician visits with our four children: Alexa, Blake, Jace and Danielle. On this day, our youngest daughter, Danielle, had her 18-month well-check visit. From previous visits we knew that Danielle was smaller and lighter than our other children, as they were all consistently near the 100th percentile in height and weight. She was at the 55th percentile in height and 30th percentile in weight. During the examination, our pediatrician Dr. Somes, detected a potential problem with Danielle. She said she did not want to alarm us, but already had called the radiology department at St. Vincent Hospital and ordered an emergency ultrasound for Danielle. Danielle was sent to the hospital a few miles away. While at the hospital, our pediatrician called the radiology department and was connected to us to inform us that we were also to take Danielle upstairs to the lab to have several tubes of blood drawn for additional testing. Danielle was very naïve about where she was and what was going on, she never even pulled away as Rick clenched her with a wrestling hold and a needle entered her arm to extract her blood. She only whispered “ouch” in her small comforting voice. Later that evening, the pediatrician called us at home to tell us about the lab work that came back so far. She indicated Danielle did have an iron deficiency and also informed us the ultrasound confirmed that Danielle’s spleen was enlarged. Her first concern was that Danielle had a tumor, so we were relieved that she didn’t tell us that earlier and that none was found. Now we had to figure out why her spleen was enlarged.
Dr Somes had already called a pediatric hematologist and made an appointment for the next morning. She was taken to the Center for Cancer and Blood Diseases at St. Vincent Children’s Hospital for additional blood testing. Dr Hock reviewed the previous day’s ultrasound and lab results and also viewed her blood under the microscope. He indicated he didn’t see anything real bad in the blood. He said that he didn’t think the problem was leukemia. The sigh of relief was overwhelming. He did, however indicate her red blood cells were fewer, lighter in color and smaller than normal. He indicated that he believed the spleen and the potential anemia were two separate things going on. He ordered more than 20 tests requiring another 10 vials of blood be drawn from Danielle on top of the 5 from the previous day. We thought that if she wasn’t anemic before, she would be with all the blood tests. The doctor wanted to test her iron levels and check for any infectious diseases. The next day a nurse from the doctor’s office called and told us the initial testing indicated that Danielle was severely iron deficient and called in a prescription for liquid iron supplement. The doctor indicated we should also be careful with Danielle as her spleen is so enlarged that it is no longer protected by her rib cage. Over the next two weeks, tests results began coming in. Results were negative for a number of diseases including cytomegalovirus, mononucleosis, and even cat scratch fever. Every two weeks we continued to take Danielle back to the hematologist for monitoring and additional blood testing. With the results of every test investigated coming back negative, it was speculated that maybe a virus caused her enlarged spleen.
On Wednesday October 22, Danielle went in for another routine appointment with the hematologist. We believed this one would be just as easy as the other appointments; simply take a sample of blood and feel her spleen, then go home. Not this time! Danielle’s blood work had come back with some improvements; however her spleen appeared to dramatically increase in size. Shockingly, the doctor indicated he wanted to perform an immediate bone marrow test. Despite the significance of this test, we were still optimistic he wouldn’t find a serious problem. We watched Danielle from the time she was born on January 21, 2002. She had always been full of energy and life. No matter how the day was, upon hearing the door open she would run to the door with an electrifying sparkle yelling “Daddy”, or “Mommy” and wrap her arms around you as she was whisked into the air for a big kiss and hug. As every parent knows, this is what makes life and parenthood worthwhile. Everyday problems and issues seem to disappear with the love of your life in your arms. The warmth, satisfaction, and knowledge that you brought this special child into the world radiate with each embrace. Mere words can’t describe the immense joy.
During the bone marrow test they also extracted some cells for a biopsy as well. Results from the pathologist came back the next day. He found cells that were a different shape – like that of crinkled up paper, and suggested a rare disease called Gaucher disease. The doctor had never seen this disease before. As we found out, neither did our pediatrician nor anyone else we knew. However, it just so happened that the pathologist had recently returned from a seminar that discussed Gaucher disease, which is why he recognized the appearance of the cells. This “coincidence” was one of many, many times that we felt the hand of God during this process. As the tests were not entirely conclusive, the doctor recommended we send a sample of her blood to the Mayo Clinic for specific enzyme testing. Our stomachs were unsettled and our nerves jittery as we waited for the results with our breaths held. Day after day after day we endured the agony of waiting for results. Due to the rare nature of the disease the test was only run once a week. The blood did not make it in time to be run the first week. Finally on November 7, we learned the enzyme assay test was run, but the results were “inconclusive” and they needed to run the test again. During this wait we were in constant discussion with Drs Somes and Hock and with their recommendation not to wait anymore, we made the decision to schedule Danielle for an appointment at the Cincinnati Children’s Research Hospital on November 12, as a leading expert on the disease practices there. We lacked the enzyme results, but reasoned she should be seen by an expert; someone who actually had seen patients with the disease. Surely they would know, they could confirm our hope and prayers that she did not have this disease.
As the day arrived, we spent the afternoon with Dr Grabowski and his geneticists. The geneticists asked questions and took our family history. They asked questions relating to symptoms of the disease, for example, if she bruised easily. We mentioned the time she threw a fit in a grocery cart and repeatedly banged her body against the metal cart. The following day she was bruised from the back of her neck to the bottom of her waist. At the time we thought the bruising was consistent with the level of tantrum and the fact it was a grocery cart. In hindsight it was a symptom of the dreaded disease. Blood samples were again taken, but with these samples Dr Grabowski wanted to analyze Danielle’s DNA and look for mutations that would definitively confirm the disease. Danielle spent the three hours in the office, much like any other child, climbing up and down on chairs, reading her books, and whimsically chattering. Danielle had always been advanced in speech. She spoke her first words at age 6 months bellowing out “Ma-ma” and “bug”. We knew that Danielle would be special in life. She was a true gift from God and had a magnetism that would attract anyone and light up their lives with her captivating grin and charismatic charm. She could put multi-word sentences together at age 12 months. She said, “I want a cracker” while shopping for groceries on vacation. At night, she demanded “Water – ice cubes, please”. And often said, “thank you”, when her command was answered.
The next day we finally heard back from the Mayo Clinic. Unfortunately, the moment we dreaded hit us – her test showed a very low level of enzyme and low white blood cell count consistent with the disease. The Cincinnati Children’s Research Hospital also found two mutations in her genetic code unequivocally confirming the disease. Neither of us could speak. We had difficulty swallowing and breathing became difficult, a tremendous weight fell upon us. We were not looking for pity, but answers to the age-old question of why? Why her? Why Danielle? Why did this have to happen to her, to any child, to anyone? You begin to question so many things.
Perhaps, the most important message that Dr Grabowski left us with is fitting here, “It doesn’t matter what type she has, we will take the disease on as it comes.” And this is truly the path that we take. She is doing very well, but we hold our breath every time he looks at her eyes – checking for those neurologic indicators of involvement.
Due to the constant care required at a hospital, Dr Grabowski suggested we take Danielle to the Riley Children’s Hospital in Indianapolis where Dr Wappner would oversee her treatments and manage her health on a daily basis. On November 15, we took Danielle in for an office visit. We chatted about Danielle, her language abilities, motor skills, and overall orneriness. She took measurements of her body, watched the way she walked, and performed tests for eye and hand coordination to document a baseline of the disease. Her spleen was 20 times normal size and her liver was twice normal size. Her spleen was so large it extended down into her pelvic region as far as it could go. She looked like she was 9-months pregnant despite being a little girl of 18-months in age. She is a beautiful girl, frequently complimented by others. She has an ornery grin that can captivate everyone. Strangers often comment on her big beautiful brown eyes with the natural Maybelline eyelashes.
The doctors have labeled Danielle as type 1 or type 3 Gaucher disease as her specific gene mutations are both severe. Some DNA mutations are predictive for the course and progression of the disease. However, with DNA mutations consistent with Danielle’s there has been a Japanese report of several patients that exhibited all three types of the disease. In other words, the mutations alone cannot dictate the form (type 1, 2 or 3) of Gaucher disease. Only time and symptoms will provide clues to an accurate classification for Danielle. Enzyme replacement therapy can alter the course of the disease compared to patients that had the disease prior to discovery of this treatment. (But the same impact has not been observed with the neurologic forms.)
Danielle had surgery on December 2, 2003 at Riley Children’s Hospital in Indianapolis to install a port-a-cath so she will not have to have an IV needle stuck in her little arms and veins with every infusion, taking place every other week. The port is centered on her breast bone, is about the size of a nickel and a half inch protrusion above her chest. Two days after surgery we went to Riley to have her first infusion therapy and CT scans so they can monitor the size of her spleen and liver as treatment progresses. For the first year all infusions took place at the Hospital, to provide close supervision and monitoring. Now, infusions are done at home by a home health agency. For quite some time now, we have had the same nurse for the infusions and Danielle looks forward to “Nurse Wanda’s” visits. They’ve developed a special relationship.
It’s been an intense roller coaster ride. Rick is a scientist, working at Eli Lilly Pharmaceuticals. He’s a thinker, a studier. He jumped into studying Gaucher disease with both feet. He reads the research papers and talks to the researcher and doctors about possibilities. He contacted a previous boss at the National Institutes of Health and got one of his post doctoral candidates working on studying Gaucher disease. Gloria personally believes that Rick has a bigger purpose and greater possibility to positively impact the disease. Now, Gloria on the other hand, is the mom all the way. All emotion. Some denial. It took some time to come to terms with our situation and accept it. Pouring out the maximum amount of love and focusing our support group has been the mainstay. Our prayer team is huge and has played a major role in our lives and her success. We cling to our faith like a life raft and thank the Lord for the blessings He pours out on a continuous basis. As we walk the tightrope between type 1 and type 3, God is our safety net all the way.
In spite of her situation, Danielle continues to be a very happy, energetic, enthusiastic and beautiful girl. She’s as smart as a whip and quite a character. She’s resilient, head-strong and independent. She simply lacks a necessary and vital enzyme in her body. She is one of our most precious gifts. She has taught us so much. She has re-focused us on our true priorities. We knew she was special from before the time that she was born. She showed us spunk in utero and tested our limits during the pregnancy. She was our only one that required an amniocentesis (which caused us a week of fear, followed by one phone call of sheer joy). She was the only one who introduced us to the concept of having Strep B during pregnancy, but this also turned out fine with the proper follow up. We hoped that the Gaucher test would turn out similar – another false alarm to keep Mom & Dad on their toes. She lights up our lives with every moment, with every gaze of her big brown eyes, with every touch, every kiss and with every soft embrace. She is a precious gift, a gift from above, a gift beyond any others, a gift of un-ending giving, of unconditional love. She is ours, our flesh and blood, our life, our life worth living.
One thing that really bothers us is that this disease is unlike that of diabetes, cancer, muscular dystrophy and many others, in that it is not well funded nor well known. It is our dream that we can make a difference.
Richard Loncharich, Ph.D.