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Shawn's Story

My name is Jennifer Covello - my son Shawn was recently diagnosed with Biotinidase Deficiency. We know that a major miracle has happened to our family, as we were first told that Shawn had a degenerative brain disease and would not survive. 

Shawn is 20 months old and has been suffering with many different symptoms for over 5 months. He has had developmental delay for quite a while, then last month he started having seizures, and for months he'd been having recurrent ear infections and losing hair. Everything seemed to be easily explainable for one reason or another until the seizures and tremors started. It was then that we finally got the help we needed for Shawn. 

We were in the hospital for 10 days, just released on February 2nd, 2003. We've been home since then and Shawn is responding very well to the Biotin. His hair is already starting to come back and he's walking again and even trying to say some words. We are elated. 

It is so nice to know that we are not alone in this, it is encouraging. My husband and I also have a 3 year old boy who will be tested as well though he shows no signs of it. We feel that God has truly touched our lives, and I'd love to be able to share Shawn's story in any way I can. You can contact me at jencovello@hotmail.com. I hope to hear from you! 

Thank you,
Jennifer Covello 

Unaffected Son: Evan



Shawn was born on May 23, 2001. He seemed to be healthy at birth, however a few days after he was born he developed a severe case of jaundice and had a bilirubin level of 22. He was re-admitted to the hospital and treated for 24 hours under the lights. His jaundice slowly went away after that.

Shawn had some delayed milestones as an infant, didn't sit up until 9 months, never crawled on his hands & knees but he would pull himself around with his elbows doing the "army crawl", he also didn't walk until 14 months. His troubles really started shortly after that. He started to walk and then a few weeks later he stopped, he would take one or two steps and immediately fall to the ground. Not like a toddler learning to walk, but like he had a "spell" of some kind. He didn't have the reflexes to put his hands out in front of him to stop himself, so he would often fall head first into the wall, the floor or the furniture. At about the same time he developed severe breathing problems (which was diagnosed as asthma) and rashes that covered his face and torso (diagnosed as allergies, eczema, and even scabies). Shawn's hair was thinning and falling out as well. Our trips to the doctor were frequent, most of the time twice a week, since Shawn had chronic ear infections. Many times we were in the emergency room as well.

After about 4 months of constant illness Shawn's pediatrician believed that his problems were environmental, since we lived in an agricultural area in central California where there were many air quality concerns. The doctor suggested that we move out of the area, out of the valley completely to an area with cleaner air. We did just that, immediately. However after our move Shawn's problems only got worse. Within a month Shawn had his first seizure, we rushed him to the emergency room where they treated him with phenobarbital, but the seizures only became more frequent. He also had constant tremors and he was losing the ability to sit, feed himself and hold objects. Finally Shawn was admitted to the hospital and the doctors ran a litany of tests. The pediatric neurologist there was certain that Shawn was suffering from a degenerative brain disease and was slowly dying. He advised us to make arrangements so that our family and friends could say goodbye to Shawn, because he didn't have much longer to live, in his opinion. We had never felt that level of grief before, and pray we never will again.

After six days in the hospital and numerous tests, scans, blood work, etc. one urine sample came back from the Mayo clinic that showed that Shawn had no biotin in his urine. The neurologist was then able to determine that Shawn had Biotinidase Deficiency, a rare but treatable metabolic disorder. This is what had caused all of Shawn's symptoms. Shawn was in fact dying, but after they began treating him with biotin he went on to make a full recovery! Within 2 days Shawn began to walk again. We weren't sure what long term damage Shawn had suffered due to the late diagnosis and treatment.

Shawn's diagnosis happened when he was 20 months old, in January 2002. In the last 4 years Shawn has been through intensive occupational and speech therapy to overcome developmental delay. I am thrilled to report that he was recently released from those services for being at an "age appropriate level" and is on track to start Kindergarten this fall. Shawn's journey has so far been truly amazing an inspirational, and we thank God every day for the miracle he has done in our little boy.

We have spent the last 4 years researching what it will take to get newborn screening in California so that no other family will have to go through this. After spending some time with March of Dimes at the state capitol, speaking at hearings and spreading the word, we have recently received word that Biotinidase Deficiency has been added to the newborn screening legislation and will hopefully be implemented very soon!

The information contained in this website should not be used as a substitute for the medical care and advice of your doctor. There may be variations in treatment that your doctor may recommend based on individual facts and circumstances.

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