Michelle Leeker
Biography
My name is Michelle Leeker, and I am Kansas’ Lay Advocate Representative. I became involved with Heartland Regional Genetics and Newborn Screening Collaborative through my work with Kansas to increase the number of disorders tested for through newborn screening. My middle son Trevor led me to awareness of newborn screening and how it affects families.
I starting noticing things were wrong when Trevor was four months old. After I had fought with doctors for five months, who told me that Trevor was just fine, I finally got to go to a specialist at Kansas University Medical Center! We talked to the doctor in the child development unit for an hour, and she checked all kinds of movements on Trevor. She said that she would be right back. When she left, I told my husband that I had a feeling that we were not going to get to take Trevor home with us, and that they probably thought I did not take care of my son, since he was losing weight! I was partly right; the doctor was admitting Trevor into the hospital to get all of the tests done so we could finally find out what was wrong. They also told me that I could stay by his side every moment, because they could tell that Trevor and I had a very close bond that was important for both of us to keep! We were admitted into the hospital on March 21, 2000 and had an EEG, MRI, eye exam, hearing exam, spinal tap and all kinds of blood drawn.
Three days later, on March 24th (at 10 months old), a group of doctors (including my new doctor that actually listened to us) walked into the room with my husband, his mother, Trevor and I and closed the door. They asked us to sit down and then started explaining everything they had found. I was having trouble following all their terms, so I stopped them and said, “Are you telling me that my son is dying?” Everyone went silent for a moment before the neurologist said that, yes, he was going to die. My next question was “How long does he have?” They told me it would be a year at the most. My heart had been right and was trying to prepare us for what they were telling us. We got the final word that it was Krabbe Disease and that it would probably be more like two or three months instead of a year. We decided that it was time to go home and enjoy the time we had left as a family. We lost our son on February 17, 2001 at the sweet age of 21 months.
I cannot say that I would choose to go through this journey again, but I would not trade the time that we had with Trevor for anything! We know that our own guardian angel is watching over us, and can see that our love continues even though I cannot hold him. We know that this is true because we had decided that we could not bear the idea of having any more children, and watch them go through this awful disease. BUT, one month after Trevor passed away, we found out that we were expecting our third child. With lots of worrying, all the tests came back normal, saying that we were going to have a healthy baby girl. Trevor now speaks to us through the eyes of his baby sister Hope. They look so much alike, but we know that she could never replace our sweet angel Trevor. I think Trevor really had a hand in sending his baby sister to us, because she is definitely a gift from Heaven!
To pay back all of the help that we have received from the medical field, we have set up a scholarship in Trevor's name for anyone that has entered the medical field. We do a slow-pitch tournament every year in our small town of Baldwin, Kansas and raise money to give away two $500.00 scholarships to some very deserving and well educated medical students. We just finished our 7th annual tournament and are about to announce the winners for this year. We feel this will help other children in the future!
Pictures
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 Family Picture in 2005 (4 years without Trevor) |
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More Info
What is Krabbe Disease?
Krabbé disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbé disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe degeneration of mental and motor skills. Myelin, which lends its color to the "white matter" of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbé disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.
Krabbe Disease does not show signs at birth, but when it does start showing signs, it is then too late to try transplanting cord blood. A cord blood transplant uses leftover blood from a newborn's umbilical cord and placenta to replace bone marrow in patients with genetic defects. This transplant alters and or halts the disease process. Because Krabbe hits so early though, and is quickly fatal, it is critically important that a diagnosis be made as early as possible. Babies transplanted as early as 2-4 weeks of age have had a high success rate. Babies are identified at birth because the family has already lost one child and knows to test for it, or it is picked up on newborn screening, which happens only in New York State right now.