Many times people ask what is wrong with Wendy. Well, her diagnosis is an unbalanced chromosome translocation between 7&10, but that obviously doesn’t describe her medical issues. So I’ve decided to do a blog post and give everyone a list of Wendy’s medical problems, including a brief description of each so everyone can understand her a little better.
Chromosome Abnormality- It literally means what it says. She has an abnormality in her chromosomal DNA. She has a deletion on 7 (missing 73 genes) and an extra part of 10 (17 genes duplicated) in it’s place. She also has a deletion on 3 and a duplication on 12. The abnormalities on 3 & 12 are thought to be benign and not of any significance.
Congenital Anomalies- These are structural deformities present at birth that are caused by chromosome abnormalities. (There are other things that can cause congenital anomalies, but in Wendy’s case, it’s her chromosome abnormality.) Wendy has several congenital anomalies. For the next few things I list, if they are a congenital anomaly, I will put (CA) beside them.
Imperforate Anus (CA)- This means the opening to the anus is missing. At 3 days old, Wendy had a colostomy placed. At 12 months old, she had an anoplasty (they surgically made her an anus) and finally at 16 months old, she had the colostomy removed and her rectum was connected to her newly made anus. She now poops like everybody else.
Interrupted IVC (CA)- IVC is inferior vena cava, which is a large vein ascending through the abdomen. Interrupted IVC is a rare developmental defect in which 10% occurs with other anomalies.
11 Ribs (CA)- Wendy only has 11 bilateral ribs on each side, instead of 12. They were also noted to be very thin.
Flat Nasal Bridge (CA)- Wendy has an unusually flat bridge and small nasal tip.
Hypotelorism (CA)- Meaning, her eyes are “too close” together.
Sternal Cleft (CA)- A very rare malformation, that result from defective embryologic fusion of paired mesodermal bands in the ventral midline. Only 100 cases have been published. This is the vertical groove in Wendy’s chest.
Microcephaly (CA)- This is a neurodevelopmental disorder. Microcephaly is defined by a small head circumference.
Intestinal Malrotation (CA)- This is when the intestines don’t form and make turns where they should. Intestinal malrotation itself is not much of a concern, but it puts Wendy at high risk of volvulus (when the intestine twists in on itself, potentially cutting off the blood supply) and intestinal obstruction (when a stalk of fibrous tissue known as Ladd’s bands creates a blockage that prevents the intestine from functioning). To help prevent this, Wendy had a LADD procedure done when she had her g tube put in. A LADD’s procedure involves surgical division of Ladd's bands, widening of the small intestines mesentery, performing an appendectomy (Wendy’s appendix was in her upper left chest cavity) and correctional placement of the cecum and colon.
Bilateral IVH- IVH is intraventricular hemorrhage. This is a type of brain bleed. Wendy’s was not severe, so hopefully will not leave much/any damage.
VUR- Vesicoureteral reflux is the back flow of urine from the bladder into the kidneys. This can lead to bacteria reaching the kidneys and causing infection. Because of this, Wendy had to take antibiotics daily from the time she was born, until she was a year and a half old (at that point, her cystourethrogram came back good saying she had outgrown the reflux).
Hydronephrosis- This is swelling of the kidneys. By 3 months old, Wendy had outgrown this.
ASD (CA)- This is a heart defect. While the baby is in the womb, there is normally an opening between the upper chambers of the heart (atria) to allow blood to flow around the lungs. This opening usually closes around the time when the baby is born. If the opening does not close, the hole is called an atrial septal defect, or ASD. Wendy’s closed on it’s own when she was around 2.5 months old.
Sacral Dimples (CA)- This is a dimple at the base of the tailbone. Wendy also has (at least what we think) is a protruding coccyx. She has a nub at the end of her spine that we are going to have checked by ultrasound.
GERD- GERD is gastroesophageal reflux. Wendy takes medication (Prevacid) daily to help control this. On days when that is not enough, she also has Bethanechol.
Dysphagia- This is difficulty in swallowing. Because of this, Wendy has her g tube. Her g tube was placed at 6 weeks of age and before that she was fed by an NG tube in her nose.
I believe this is all of Wendy’s conditions. It is hard to remember all of them when making a list! I hope this helps you understand more about Wendy and the different anomalies she has because of her chromosome abnormality. :)