My name is Allie. Mom to three wonderful children; Jennifer age 12, Chance age 12 and Nathaniel age 5 with a chromosome deletion known as 46xy 16p13.3.

I was sick a lot throughout my pregnancy with Nathaniel and was put on bed rest 2 months before his due date. Nathaniel was born by c-section weighing 5 pounds 9 ounces. He had a weak cry and his color was blue. He had white spots on his leg, back, and arm. The Pediatric doctor biopsied the white spots because they didn't know what it was. They sent him home and told me he was fine!

Nathaniel developed reflux and vomited constantly. He had colic. At 6 weeks of age he kept getting sicker. Vomiting, dehydrating, and a cough that was persistent. We took him to the pediatrician several times as well as two different emergency rooms visits. They ran several tests on him and would send him home telling me each time he was fine. I knew better. I knew my child! Yes he has reflux and I know he vomits but its getting worse.

The next morning, I awoke and Nathaniel was very sick, floppy with his eyes rolling back in his head. Immediately we rushed to the pediatrician, Is this normal? I asked. The doctor told me that, “No, I think he is having a seizure.” The doctor sent Nathaniel to the hospital.

I was so scared and my heart was breaking. By the time Nathaniel reached the hospital his oxygen level was 56. With several tests, oxygen, CAT scan, we found out Nathaniel had RSV and Pneumonia. We also found that he had 2 holes in his heart (which corrected by one year of age on their own). We were visited by a genetics consultant who said he thought Nathaniel had a syndrome. The blood work came back normal, and Nathaniel wasn't having seizures. We got to go home one week later.

Nathaniel had delays with his milestones. He sat up at 14 months; he crawled at 10 months and walked at 22 months. He was non-verbal and only made sounds and the word dada until he was three years of age. His eye contact wasn't very good either. He became extremely hyper and I knew that something was still going on. At the age of four, he was seen by a developmental pediatrician who told us he wanted an MRI and wanted him seen by Geneticist again.

March 2007 we found that he had a chromosome deletion and was the only reported exact case in the world. SCARRY!!!! April 10, 2007 we found out that Nathaniel's MRI showed he has TSC2 and most of his grey and white brain matter is covered in tumors.

I had never heard of TSC My heart ached and I grieved. Our whole family did. My husband was so supportive.

Nathaniel has since been diagnosed with Complex Partial Seizures that are controlled by Trileptal unless he gets too excited or upset. He has moderate to severe mental retardation. Nathaniel had sleeping problems that are controlled with a medication given by his developmental pediatrician. Nathaniel has an Obsessive Compulsive Disorder and a lot of repetitive speech once he starts getting obsessed. His speech is improving greatly. He has to be supervised at all times.

He gets speech therapy three times aweek, occupational therapy 3 times a week and physical therapy 2 times a week. He goes to school on Fridays. He is in a classroom with two teachers and one other child. Nathaniel doesn't exactly play with other kids but he will play around them. When he plays with cars he lines them in rows. He also does this with his Diego dolls. He is extremely active. Nathaniel is a very sweet loving little guy.

Nathaniel is seen by a developmental pediatrics every three months, genetics once a year, and neurology every four months. He will transition to Kindergarten next year and will be in the FMD room with his own special aide where he will have constant supervision. Nathaniel will also participate in Art, Music, Recess, etc. with the other kids that can be in regular classroom.

Regardless of Nathaniel's diagnoses----to me they are just that. A diagnosis is not a prognosis! I work hard with him each and every day to help him achieve as much as he can. He is very capable of learning. Each day he produces new words and does new things. He makes me so happy and thankful. The white spots on Nathaniel when he was born were actually called white patches and were associated with TSC. He also has the facial rash term angiofibromas and caused by tuberous sclerosis. This is our family story and I hope it helps someone. I remember feeling so lonely when we first found out. Every day is like turning the page in a book to a story you have never read. Regardless they are all blessings; the good and the bad.

Thank you Deanna for your website.

Allie Marshall

If you would like to correspond with Allie you can email her at: nathaniel@godisforyou.com

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