Living with Gaucher:
She is sweet, adorable and she has Type III Gaucher Disease.
It was March 4, 1998, when we learned that our two year old adopted daughter, Valerie, had Gaucher Disease, exactly two years to the day from when we first held her in our arms in Athens, Greece. We shall never forget this bittersweet day of March 4, no matter what the year.
Born on February 28, 1996, Valerie was just five days old when we first saw her. Although 6.1 pounds and 19 inches long, she was a tiny baby with very beautiful features. Her distinctive eyebrows, big eyes and fair complexion gave her an older appearance. She was physically strong, holding her head up when held. Valerie was also very alert. She seemed to be studying her environment. The nurse in the Athens hospital where she was born characterized her as a quiet, patient baby waiting her turn to be fed, changed and cared for.
It was instantaneous bonding. We have pictures of her reaching to grasp our fingers when we held her in our arms. As we look back on these special moments, we know now that adopting Valerie was part of God’s plan for both her and us. People wait years to adopt a new born. Being of Greek descent, we had hoped for a child who would share our heritage. After having made contact with a private attorney from Greece, it was just five months when we received a call saying that in two weeks there was a birth mother who wanted to give her child up for adoption to parents of Greek descent living in the United States. When the attorney asked us if we were interested in adopting the child, there was no hesitation on our part. We began to make plans to travel to Greece. Being a private adoption, we did not meet the birth parents. The birth father left as soon as he discovered the pregnancy. All we know is that the birth mother was very petite and had three children from a prior marriage. The initial blood work at the time of birth and other testing indicated that Valerie was a normal, healthy baby.
It took five months to process the adoption in Greece for which Cynthia stayed the entire time. Valerie gained weight, grew, had a bout of colic, and received her vaccinations. For all practical purposes, she was progressing normally. When we returned to our home in Morton Grove, Illinois, on July 24, 1996, Valerie’s pediatrician deemed Valerie healthy. Although at the time all her blood tests appeared normal, Valerie was found to have Hemoglobin-E; but we were told the condition posed no threat to her health. Given this diagnosis, perhaps further testing at the time would have disclosed the Gaucher Disease. Later Valerie tested negative for Hemoglobin E – perhaps the initial finding was a misdiagnosis?
In December of 1996, our pediatrician noticed that Valerie was showing signs of intermittent strabismus (crossed eyes). The pediatric ophthalmologist confirmed that diagnosis. Valerie was scheduled for corrective surgery in August of 1997 at the age of 17 months. During this time we noticed that Valerie, although still gaining weight and growing, could not walk unassisted. Her fine motor skills were exceptional as she could dip her spoon in a cup of water and put the spoon filled with water into her mouth without a drop being spilled. However her gross motor skills were limited. Valerie could roll over, sit up, pull her self to standing, and even take a few steps by herself, but she had little balance and coordination. Also during this time, she had experienced five fainting spells, where she would appear to be choking on phlegm and pass out. Needless to say, this was quite disturbing. The doctor attributed this to a milk allergy, so she began to drink soy milk. We also noticed that she would not open her mouth when the doctor tried to examine her and that she preferred to have her food mushed. Little did we realize that these were neurological signs of Gaucher Disease.
In all other aspects Valerie was progressing. She began saying words like ma-ma, ba-ba, yiayia, etc. at 10 months old. She had good comprehension. She could respond appropriately to simple commands such as to turn the light on or off, roll over, and crawl. By the time she was seventeen months old and had her eye surgery, Valerie could count to ten in English and say simple two-three word sentences. Cognitively, she was right on schedule for her age.
It was not until the pediatric ophthalmologist noticed that Valerie was not blinking properly and that her eyes were not moving side to side that she expressed concern that something else may be contributing to Valerie’s gross motor skill limitations. She would move her head to track an object, but when looking down she would shake her head as if she were nodding no. However, she showed no eye movement side to side. The neurologist we were referred to diagnosed Valerie with Coogan’s Syndrome, more commonly known as ocular motor apraxia. Although he did mention that this disorder was associated with some genetic diseases, he did not feel that this was the case for Valerie. He felt that Valerie would begin to walk normally once she had learned to compensate for her eye problem. Also, the blood tests he ordered were all were within normal limits.
At that time Valerie’s abdomen looked and felt normal. She did not begin to show an enlarged belly until 22 months of age. In January of 1998, Valerie had another fainting spell. We visited her pediatrician to discuss this situation. Concerned for why this was happening, he ordered a chest X-ray, electra-cardiogram and more blood work. The chest X-ray revealed that Valerie’s spleen was very large. Furthermore, her blood work was now borderline normal. Our pediatrician referred us to a hematologist at the local children’s hospital.
After a series of blood tests and an ultra sound on Valerie’s abdomen, the hematologist diagnosed Valerie with Gaucher Disease. On March 4 we met the genetic counselor at the children’s hospital who explained to us the various types of Gaucher Disease and arranged for a meeting with the chief geneticist at the hospital. The preliminary diagnosis was that Valerie had Type II Gaucher Disease.
Needless to say we were devastated. There were many sleepless nights, lots of tears and the usual “why her” and “why us” questions. On March 10, 1998, we met with the geneticist. Upon his examination he concluded that Valerie had Type II Gaucher Disease. Despite the fact that she was alert, cognitively progressing and had survived to the age of two, when generally Type II Gaucher patients die by the age of two, he would not consider treating Valerie with enzyme replacement therapy, the only known treatment for Gaucher disease.
Now it took some deep soul searching as to how to proceed. We could not reconcile ourselves to the thought that God had given us this child, just to take her away so soon. There had to be something more we were to do for her. We had to try to help her. She deserved a chance.
Everybody deserves a chance!
Friends who had access to the Internet faxed us information about the disease. The hospital gave us literature and we had contacted the National Gaucher Foundation for their materials.
Everything we had read indicated to us that Valerie could have Type III Gaucher Disease. In Type III patients the disease has neurological implications, but the progression of the disease is slower than in Type II. Preliminary research was showing that some Type III patients were benefiting from enzyme replacement therapy. Now we knew we had to get a second opinion.
From everything we read, Dr. John Barranger at the University of Pittsburgh was a leading specialist in Gaucher Disease. He had been a primary member of the team that had discovered the enzyme replacement therapy and was pioneering gene therapy research. With 22 years of experience in researching and treating Gaucher Disease we felt he would be able to determine if Valerie had Type II or Type III Gaucher Disease. Getting an appointment with him would be another matter. We left a voice mail for him with the hope that he would return our call.
Throughout this ordeal, we had each other, our families, and friends to keep us going, but it was our faith in God and Valerie’s determination that gave us strength. Several times Valerie would tell us to pray. We have an icon of an angel. She called her name to that icon after the initial diagnosis, as if to tell us she too was going to be an angel. When we returned from the March 10 visit with the geneticist, she slammed that icon down and in her broken words told us to find a new doctor. For those who believe in God’s power, no explanation of His miracles are needed. For those who do not believe, no explanation would suffice for what happened to us next.
As Greek Orthodox Christians and active members of our church, our priest, who is also Valerie’s godfather, held three special prayer services which involve asking the Virgin Mary to intercede on a person’s behalf. It was also our Lenten period and these services were opened to all who were in need. At the third prayer service on March 31, 1998, Valerie came with us. She was used to seeing the icons in church, but did not pay too much attention to them. After the service, our priest called us forward to see the new icons for the icon screen. One of them was of the Virgin Mary. Valerie wanted to see the icons and made us walk her up to the altar area. On her own she knelt to kiss the icon of the Last Supper, then she walked me over to the icon of the Virgin Mary. With her forehead pressed to the icon and her two hands holding on to it she stayed quiet for almost four minutes. It seemed like eternity. Each time I tried to move her away from the icon she would fuss and cry. When our priest told her nicely to let go she shot him a look of “get away” and continued to hold on to the icon. Only when she was finished did she let go of the icon and let me walk her away. This next day, Paul received a voice mail from Dr. Barranger’s genetic counselor that he would see Valerie as soon as our schedule permited.
On April 9, 1998, Dr. John Barranger examined Valerie and diagnosed her as a Type III Gaucher patient who needed treatment immediately. Her MRI showed a spleen that was almost 40 times its normal size and a liver three times normal size. Her left leg showed that there was severe bone marrow displacement and she was very close to vascular necrosis. We are positive now that if she did not receive treatment, she would have had a bone crisis.
At our request, Dr. Barranger called the doctor at the children’s hospital in Chicago with his diagnosis. The doctor again stated his reluctance to treat Valerie. Without hesitation, Dr. Barranger agreed to be Valerie’s Gaucher specialist. Our pediatrician found us a hematologist at the University of Chicago Children’s Hospital who was willing to oversee Valerie’s infusion every two weeks. On April 16, 1998, Greek Orthodox Holy Thursday of that year, Valerie received her first infusion of Cerezyme.
Now one year later, we are happy to report that Valerie has made considerable progress. After five months of treatment she began to walk on her own, although she still has an hour long physical therapy session once a week. If you hold her hand she can navigate stairs and jump. She talks a blue streak and can count from one to 30 in English, one to 20 in Greek, one to ten in German, Spanish, Zwahili, and Russian. She has an amazing memory and out of the clear blue she will sing a song from a Disney video or one of her many tapes. Due to her blinking problem, Valerie has an astigmatism and now wears glasses. When looking down her head does not shake nearly as much as it did before.
Physically, her spleen is now about five times normal size and her liver is about 1.25 normal size. The Gaucher cells in her leg bones have been replaced by normal fat cells. Valerie has grown about two inches although she is in the fifth percentile for height. She now weighs 31 pounds, up seven pounds from the 24 pounds she weighed in April of 1998. Overall, Dr. Barranger was pleased with her progress. We are grateful to God and pray that she will continue to grow.
This experience has taught us patience and to enjoy what time we have together. All the cliches we have heard before, “life is short, don’t give up hope, God only gives you what you can handle etc.” have a new meaning. It has made us appreciate the blessings we have and that we have been truly blessed by having Valerie. Now three years old, Valerie is a happy child living a relatively normal life. In September, she will begin an advanced bi-lingual pre-school program at our church. She is a joy and has a funny personality. No one knows what the future brings and in Valerie’s case we won’t ever feel like we are out of the “woods”, but we do know that love and faith will see us through.
Cynthia and Paul Yannias
Morton Grove, Illinois