Case History: Joseph Connor Boggs

Lexington, Kentucky, USA

Joseph Conner Boggs was born on July 16, 1999. He was a beautiful baby boy and weighed 6 lbs., 11 oz. Despite a difficult pregnancy and birth, we were told that Joseph was a normal baby. However, he kept failing the hearing test given to newborns. The doctors kept administering this test until we went home. We were told that failing the hearing test was not unusual, not to worry. Joseph was breastfed. At approximately two weeks of age, a very greasy stool was observed. Along with the greasy stools, blood began to be passed. The doctors said that Joseph was allergic to breast milk and this was causing Joseph to be constipated, explaining the greasy stools and the blood. However, Joseph’s stools were not hard. Joseph was started on several different types of formulas and the stools and the blood continued. The blood became more obvious and the doctor just said that it was an allergic reaction, not to worry. He could get an appointment for Joseph to see the pediatric GI specialist in 2 months.

The next stool, we took Joseph to the ER. After seeing the blood and a positive hemocult test, Joseph was hospitalized. Routine LFTs, PT, and PTT were preformed. Joseph showed no liver enlargement but his LFTs were extremely elevated (upper end of normal being high 80s; his were in the upper 900s). Again, no alarms because they said that a virus could cause this and it was decided that he would just be monitored. Joseph was also having difficulty breathing. He was diagnosed with asthma and was given albuteral treatments.

When he was approximately 4 months old, Joseph was hospitalized for RSV and pneumonia. He continued to have high LFTs. No explanation could be given.

We were referred to a pediatric gastro-intestinal specialist. The specialist said again that there was no cause for alarm. With every visit, his LFTs continued to increase. This greasy stool, blood, and elevated LFTs continued until he was approximately 4 months of age. We woke up one day and our child’s eyes were dancing around like a mad man’s eyes. He had nystagmis that went up and down, side to side and around and around. We called his specialist demanding that she see him. We brought him in and this time, his liver had started enlarging along with the high LFTs. "This is more serious than we thought. This is very bad. We will need to do a liver biopsy in about a month". I protested the delay. I wanted something done now. But they quickly informed me that my child was not the only baby in Kentucky.

I took Joseph to the Children’s Hospital in Chicago the next day. That afternoon, several eye exams were preformed and we were told Joseph was blind. The doctor gave Joseph a vitamin K shot because his PT was at stroke level. Joseph was diagnosed with a disease called Zellweger’s. They sent blood and skin samples to Johns Hopkins to be analyzed to confirm their diagnosis. We were told that Joseph had approximately 4 months to live. There was nothing anyone could do. We were sent home with hospice care. We were told that Joseph would never walk, talk, laugh, show his love for us, or have emotions of any kind. Basically, he would develop into a shell of a human being and wither away before our very eyes. We were told to cherish every day. Nothing could be done. No cure. No hope. Good-bye. We were devastated.

We returned home and took Joseph to the Children’s Hospital in Cincinnati, Ohio for a second opinion by Dr. Heubi. He was very supportive and gave me information about Joseph’s illness and told me about his cholic acid study.

Dr. Heubi told me about Dra. Martinez’s research with DHA and the double blind clinical trail in America. I contacted Dr. Martinez and she immediately made arrangements for Joseph to be seen. Dra. Martinez’s DHA research offered hope that Joseph would have a future. When Joseph was 10 months old, we started taking Joseph to Spain to participate in her study. His nystagmis has stopped. Today, Joseph is a very active 3 ½ year old. He runs, walks, jumps, and laughs. He can outrun me and his grandmother. He loves to go swimming. He attempts everything that his big brother tries and usually succeeds. If he does not, he gets up and tries again. He can do a mid-air full body rotation on the trampoline. Currently, he is attempting to do a mid-air frontward body flip on the trampoline. He uses sign language, and verbalizes very well. He says " I love you mommy" all the time. Joseph calls Dra. Martinez "Hola". Dra. Martinez’s greeting has earned her this name. He is a happy little boy and quite the prankster. For example, the other day he caught me taking a shower and fled down the street. He thought it was hilarious that his mom chased him in her shower garb. Laughing, he occasionally stopped to let me catch up and to make sure that I was still in the chase and still waving my arms. Joseph just cackled. He has an extensive vocabulary and is talking in sentences. He uses words and sign language.

Joseph uses a chair to climb to get what he wants from higher shelves. He gets his DHA vial and uses a butter knife to try to open it. He even understands the importance of his medicine. When it’s time to go to Spain, Joseph starts saying and with sign language "Where’s Hola?". He understands and learns so quickly - not just quickly for a child with a disability but for a child his age. He plays games, dances, and sings. He watches television and loves Elmo and Mickey.

Today, Joseph wears glasses and hearing aids. With hearing aids, his hearing is normal. Slowly his hearing improved. Outside the medical community or those people who are not privy to Joseph’s medical history, no one believes his diagnosis. Joseph has done extremely well. Whenever we change nursing agencies, we are accused of lying about his illness and must provide medical proof that he has this diagnosis.

He takes fat soluble vitamins (ADEK’s), vitamin K, DHA from Dra. Martinez’s clinical trial and cholic acid from Dr. Heubi’s clinical trail. He is on a restricted diet and eats no animal fat. He eats chicken regularly and fish occasionally. He eats no green vegetables. Everything is cooked in olive oil. He loves yellow vegetables (summer squash, carrots), and potatoes. Most everything that he eats is fresh. His appetite is fabulous.

I am so grateful to Dra. Martinez for giving Joseph a new lease on life. My baby’s story is not over. I know that he will grow up to be a productive member of society. What if I had listened to those doctors who said there was no hope and counseled us that hospice was the only route to go? What if I had believed that hospice could offer us the emotional support needed to accept the death of my beautiful baby boy?

He will be 4 years old soon and the future is very exciting. Each day brings a new accomplishment and a new challenge. I thank God for Dra. Martinez and the DHA that has made Joseph’s story so much better than it could have been.