By Reggie Ellis
Colin McCowan has had a rough life. He has had open heart surgery to replace both his left and right pulmonary arteries. His liver is failing, he is awaiting a donor and he will have to undergo surgery in the next three months to replace it or it will kill him. That’s a lot to handle for anyone, especially someone awaiting his second birthday party.
“He’s really an amazing little boy,” Derek McCowan, Colin’s father, said. “Despite everything that has happened, he’s got a great personality.”
Colin suffers from alagille syndrome, a rare multi-system disorder that attacks the liver, causes heart defects, weakens the eyes, fuses vertebrae and changes facial features. Diagnosed when he was just over a year old, Colin’s growth is stunted but his recognition skills are better than normal.
“There is a completely different height scale on which alagille kids are measured,” Derek said. “But the doctors can tell he’s an unbelievably smart kid.”
Colin’s mother, Rachelle, said her son is getting the best medical care at the Lucile Packard Children’s Hospital at Stanford University Medical Center. “He has a team of six to eight doctors and they are great with him, not only in their expertise, but in their bedside manner.”
Rachelle has already undergone all the testing and is a match for Colin’s liver. Generally a man’s liver is too large to give to a child, so normally the procedure is to take a portion of woman’s liver. Of course there are risks for the donor, such as a decrease in liver function, blood clots, liver failure and a one in 300 chance of death, according to Stanford. And then there is the chance that the transplant will not be enough to reverse the effects of the disease. Colin is on a waiting list at Stanford.
“I’m his backup if we can’t find another donor,” Rachelle said. She also has an 8-year-old son, Austin. “Of course I will, but there are risks to consider for me and my family.”
For a family going through so much, a little good news was welcomed. And what’s more comforting than a teddy bear? A Spinoza Bear. On July 26, Exeter’s American Legion Auxiliary Unit 94 went to the McCowans home in northwest Visalia to present the family with the special Teddy bear made for children with severe or terminal illness.
Made by the Spinoza Company, the 17-by-17-inch bear has open arms for easy hugging and a friendly tone asking children for their name. He also comes with nine audio cassettes (in both English and Spanish) with which Spinoza and his woodland friends tell fun stories and sing songs that instill self worth, give positive reinforcement, help open communication. They can be relaxing and comforting or energizing and invigorating. The tapes help children cope with loss, deal with their fears and help the family with the uncomfortable process of preparing for death.
“All of the children we have given it to have loved that bear,” said Betty Carmona of the Legion Auxiliary.
Upon giving the bear to Colin, he started dancing to the soothing sound of Spinoza’s voice. Then Rachelle began asking Colin to point to the bears eyes, nose, ears and mouth. After getting used to the bear, Colin gave him a big hug and a kiss on the nose.
But the bear is not just for Colin, its for the entire family. One of the hardest things any parent can ever face is to have their child diagnosed with a threatening illness. There are no words to describe the helplessness they feel when they know their child’s life may end before their own. One of the tapes, “Hold On To Me,” was developed not only to bring comfort to the children but to the parents and family as well.
“I think this is really cool that they do something like this,” Derek said. “He is my first son so it is hard to go through. Luckily my wife is great mom and she does most of the work.”
Siblings of chronically ill children face their own set of challenges as family life is disrupted and their relationships with their parents and brother or sister change. Spinoza’s message helps families communicate their feelings during a difficult time.
“Just look at the happiness in his face,” auxiliary member Judy Anderson said. “That’s why we do this. That is just precious.”
The Legion Auxiliary has been giving the bears to ill children for the past seven years. Each year the organization raises $168 to purchase the bear and then chooses a severely ill or terminal child who lives in Exeter. When a child cannot be found in Exeter, the Auxiliary usually turns to Children’s Hospital Central California to find a child in Tulare County.
Spinoza celebrated 20 years in 2004 and has helped comfort more than 34,000 children. As the website says, “Spinoza makes the unbearable, bearable.”
According to www.alagille.org, website of the Alagille Syndrome Alliance, the disease is named after the French pediatric liver specialist who first recognized the clinical features of the syndrome.
Seen throughout the world in many races, Alagille syndrome is more commonly reported in boys, although girls are also affected. Alagille syndrome is the most common form of the inherited disorders which cause reduced bile flow within the liver. Genetic research of the chromosomes of patients with Alagille syndrome has found mutations in the Jagged 1 gene.
Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.
Classic syndrome involves all or a few of the following five distinct findings:
Chronic cholestasis (reduce bile flow): Symptoms usually begin in infacny with jaudice, itching and cholestrol deposits in the skin (xanthomas). A liver biosy shows that there are not enoguht bile ducts within the liver.
Congenital heart disease: Usually peripheral pulmonic stenosis, although other heart disorders such as Teralogy of Fallot and coarctation of the aorta have been reported.
Bone defects: Usually “butterfly” or hemi-vertebrae in the spine.
Eye findings: Ususally an extra thickening of a line, known as teh Schwalbe’s line , on the surface of the eye. Less common eye findign include retinal pigment changes.
Typicla facial features: Often with deep set eyes, frontal bossing, bulbous tip of the nose, a down-turned mouth, and a small mandidble with pointed chin. The multi-system disease requires a multi-disciplinary approach to treatment. Evalutation by specialists in medical gentics, gastroneteology, nutrition, cardiology, ophthalmology, liver tansplantation and chold development may be indcatted, depending on the ageand specific difficulties of the individual.
Medicaiton is used ot treat the pruritus, the most severe of any pedatric liver, five-year survival rate, and results in improved liver function and some catchup growth in 90% of affected individuals. However, those individuals with a severe cardiac anomal may be excluded from the option of liver transplantation.
Cardiac defects normally require surgey to replace damaged pulmonary arteries.
Renal anomalies are treated in a standard manner.