June 12, 2009
Our beautiful little Taylor was born on April 23rd, 2004. Many ultrasounds had prepared us for the fact that she was going to be a small baby, but all other prenatal testing done had come back negative for anything wrong. Delivery was uncomplicated, and out came our little 4 lb 15 oz baby girl. Right away I had the feeling that something was not right. Feeding was poor from the beginning, and it was soon discovered that her soft palate had a cleft. I asked for a genetics consult, but we were assured by doctors that everything was fine.
Over the course of the next several months, feeding and weight gain continued to be poor; severe reflux developed, and we had to start tube feeds. A heart murmur was heard at her two month check-up, which led to a diagnosis of a bicuspid aortic valve. At this point, Taylor was referred for a genetics consult. A routine chromosome analysis was done and was found to be normal. We still had no answers.
Taylor’s tone became more hypotonic as time passed and her developmental delays became more apparent. She also started having myoclonic jerks after she turned a year old, which made us suspicious for seizures, even though an EEG came back normal. It was also discovered that her kidneys were small for her age.
Metabolic testing was done when Taylor was one and half years old and came back showing a carnitine deficiency. After discussion with her local pediatric neurologist, we decided to pursue a muscle biopsy to look for mitochondrial disease. Several months after this was done, the results came back indeed showing a mitochondrial dysfunction – an Electron Transport Chain Complex II and III deficiency.
We finally had an explanation for the low muscle tone, seizures, poor feeding, poor growth, developmental delays, etc. We were finally able to join a local support group – the West Michigan Mito Group - and were able to talk to other parents who knew what we were facing. We finally had resources available to us, and we were also able to start Taylor on treatment, (carnitine and a mitochondrial cocktail containing high doses of B vitamins and CoQ10.)
Shortly before Taylor’s third birthday, we were led to a consult with a pediatric neurologist at the Cleveland Clinic, who specializes in mitochondrial disease. This neurologist explained to us the various ways in which mitochondrial disease can occur, either as a primary disorder or as a secondary disorder. (As a secondary disorder, there is another primary disease that causes it.) He felt that Taylor’s case was a secondary disorder, most likely being caused by a still undiagnosed genetic disorder.
This neurologist ordered a higher resolution chromosome test, known as a chromosome microarray, and we soon had our answer: an unbalanced translocation on chromosomes 4 and 8. Taylor has missing material from the short arm of chromosome 4 (4p-) and extra material of the short arm of chromosome 8 (8p+). The missing material from chromosome 4 gives her the diagnosis of Wolf-Hirschhorn Syndrome (WHS).
After having a consult with the geneticist at the Cleveland Clinic, we learned that there is a gene located on (Taylor’s missing area of) chromosome 4 that is important to mitochondrial function. The gene is known as LETM1. Taylor is the first known case of someone being diagnosed with both Wolf-Hirschhorn Syndrome and mitochondrial disease. However, the geneticist told us that mitochondrial dysfunction is probably something that is prevalent in most cases of WHS, due to the missing LETM1 gene in the syndrome.
Taylor is now five years old, and she loves life. She attends a special ed preschool program at Ken-O-Sha and absolutely loves it. She is mainly non-verbal, but she has recently started to babble a lot more and is always learning new signs. Her favorite verbal words are “mama”, “yeah”, and “uh-oh!” Shortly after her fourth birthday, Taylor started walking independently - something we weren’t sure if she’d ever be able to do. Taylor has overcome so many obstacles in her life thus far and continues to amaze us with her strong determination and spirit. We are so very proud of her!
Katie and Vince Tortonesi
Our beautiful little Taylor was born on April 23rd, 2004. Many ultrasounds had prepared us for the fact that she was going to be a small baby, but all other prenatal testing done had come back negative for anything wrong. Delivery was uncomplicated, and out came our little 4 lb 15 oz baby girl. Right away I had the feeling that something was not right. Feeding was poor from the beginning, and it was soon discovered that her soft palate had a cleft. I asked for a genetics consult, but we were assured by doctors that everything was fine.
Over the course of the next several months, feeding and weight gain continued to be poor; severe reflux developed, and we had to start tube feeds. A heart murmur was heard at her two month check-up, which led to a diagnosis of a bicuspid aortic valve. At this point, Taylor was referred for a genetics consult. A routine chromosome analysis was done and was found to be normal. We still had no answers.
Taylor’s tone became more hypotonic as time passed and her developmental delays became more apparent. She also started having myoclonic jerks after she turned a year old, which made us suspicious for seizures, even though an EEG came back normal. It was also discovered that her kidneys were small for her age.
Metabolic testing was done when Taylor was one and half years old and came back showing a carnitine deficiency. After discussion with her local pediatric neurologist, we decided to pursue a muscle biopsy to look for mitochondrial disease. Several months after this was done, the results came back indeed showing a mitochondrial dysfunction – an Electron Transport Chain Complex II and III deficiency.
We finally had an explanation for the low muscle tone, seizures, poor feeding, poor growth, developmental delays, etc. We were finally able to join a local support group – the West Michigan Mito Group - and were able to talk to other parents who knew what we were facing. We finally had resources available to us, and we were also able to start Taylor on treatment, (carnitine and a mitochondrial cocktail containing high doses of B vitamins and CoQ10.)
Shortly before Taylor’s third birthday, we were led to a consult with a pediatric neurologist at the Cleveland Clinic, who specializes in mitochondrial disease. This neurologist explained to us the various ways in which mitochondrial disease can occur, either as a primary disorder or as a secondary disorder. (As a secondary disorder, there is another primary disease that causes it.) He felt that Taylor’s case was a secondary disorder, most likely being caused by a still undiagnosed genetic disorder.
This neurologist ordered a higher resolution chromosome test, known as a chromosome microarray, and we soon had our answer: an unbalanced translocation on chromosomes 4 and 8. Taylor has missing material from the short arm of chromosome 4 (4p-) and extra material of the short arm of chromosome 8 (8p+). The missing material from chromosome 4 gives her the diagnosis of Wolf-Hirschhorn Syndrome (WHS).
After having a consult with the geneticist at the Cleveland Clinic, we learned that there is a gene located on (Taylor’s missing area of) chromosome 4 that is important to mitochondrial function. The gene is known as LETM1. Taylor is the first known case of someone being diagnosed with both Wolf-Hirschhorn Syndrome and mitochondrial disease. However, the geneticist told us that mitochondrial dysfunction is probably something that is prevalent in most cases of WHS, due to the missing LETM1 gene in the syndrome.
Taylor is now five years old, and she loves life. She attends a special ed preschool program at Ken-O-Sha and absolutely loves it. She is mainly non-verbal, but she has recently started to babble a lot more and is always learning new signs. Her favorite verbal words are “mama”, “yeah”, and “uh-oh!” Shortly after her fourth birthday, Taylor started walking independently - something we weren’t sure if she’d ever be able to do. Taylor has overcome so many obstacles in her life thus far and continues to amaze us with her strong determination and spirit. We are so very proud of her!
Katie and Vince Tortonesi
We are always so glad to see Taylor's gradual independance and increased communication when we see you guys every couple months!. Looking forward to reading more on the Race. :) ~ Jodi
ReplyDeleteTaylor is a amazing little girl! She really serves as a huge inspiration for us with Payton!
ReplyDeleteHi! My name is Lauren and my daughter Norrah has WHS. I am always looking to connect with other parents who know what we are going through and can be a source of confort and encouragement to one another. Your story sounded so similar to ours in many ways... and yet as I am sure you know if you have met other WHS kids... they are so different as well. Hope to connect. Our blog is http://knowingnorrah.blogspot.com.
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