Hunter Cole Crutchfield - Trisomy 7q21-34
March 30, 1999 - May 19, 2000

On March 30, 1999 a very special little boy was born. He was born at 5:52 pm at the Coliseum Medical Center in Macon, Georgia. Hunter had to be taken early by an emergency c-section because of abnormal vital signs, a lack of fluid, and a lack of activity. Hunter was also lying on his cord, so it caused his measurements to be off, because of a lack of growth. At birth, Hunter only weighed 4 lbs. and 15 oz., but he was 19 inches long. He had brown hair and blue eyes. When Hunter took in his first breath, he experienced a pneumothorax to the left lung. He was blue and scored only a 3 on his apgar test. I was only able to touch his little hand and then he was immediately rushed to the NICU. Hunter has two older brothers, who are 6 and 4 years old. I had both of them vaginally and they've both led pretty normal lives. So, I knew something was seriously wrong with Hunter. I;ll never forget seeing Hunter for the first time in the NICU. It was the scariest thing we've ever experienced. He had so many tubes coming from everywhere. I can remember just wanting to pick him up and hold him, to let him know how much his mommy loved him. During the night, Hunter experienced another pneumothorax on the right side. This time it was because of the ventilator being too strong. So, he was changed to another ventilator that blew small puffs of air. He was so pitiful. Hunter stayed critical but stable for two weeks. I called every day after I had to go home without him and I also drove 40 miles every day to spend his lunchtime with him. I felt helpless. When Hunter was 16 days old, Dr. James J. Hogan decided that Hunter had made enough progress to take him off the ventilator and just have oxygen. I rushed to see Hunter the next day because I finally got to hold my baby. I cried and cried tears of joy. Hunter progressed well. He not only went to room air, but he also got to have a bottle for the first time. For the next two weeks Hunter learned to eat and did very well. April 26, 1999, was the day Hunter got to come home. He was able to eat 3 oz. of formula from his bottle at mealtime. He came home with no machines or medications. I thought to myself that everything would be all right. I never imagined Hunter's life would be the way it is. A chromosome study was run while he was in the NICU, which revealed his trisomy 7. No one knew anything about it? Dr. Miguel Rodriguez, neonatologist, was very uncertain about Hunter's chromosome abnormality. I knew nothing except that the 7th chromosome duplicated and was in an inverted position for 21-34. I didn't even know my child had chronic lung disease (BPD) until he developed a cold two weeks after he came home. Hunter's feet were swollen and he coughed a little bit. I took him to the emergency room and found out his O2 SATs were down in the 60s - he needed oxygen! He was rushed to the pediatric ward at the Medical Center of Central Georgia in Macon, Georgia. Later on, we were told that Hunter had pneumonia, which came from having reflux. Hunter was given a NJ-tube. He was put on aldactone, diurol, intal, and albuterol. My life completely changed. After being hospitalized for 8 days, we went home with oxygen and an infusion pump. Hunter had to have his NJ-tube replaced 6 times before he had surgery. He kept it from May until August of 1999. In August, Hunter was sent to Eagleston Childrens Hospital in Atlanta by James J. Logan, MD to see Kurt Heiss, MD, who is a pediatric surgeon. Dr. Heiss performed a stomach fundoplication, bilateral hernia repair, and G-tube placement. Dr. Heiss did a great job. Hunter recovered quickly. While Hunter was at Eagleston, Dr. Heiss discovered a dislocated left hip in his x-rays. Hunter was referred to Dr. Peter L. Meehan, a pediatric orthopaedic surgeon in Atlanta. In October of 1999, Hunter went back to Eagleston Childrens Hospital to have his left hip operated on. Dr. Meeghan also did an excellent job. Hunter was put in a spika-cast. This was really scary. I had never seen a spika-cast before. This was also very challenging. Hunter had very limited mobility. Hunter weighed approximately 16 lbs. when he went into his cast. It didn't take long before Hunter was growing out of his cast. We returned to Eagleston to have a cast change on December 9, 1999. We were unable to have the change because Hunter had a cold and his O2 SATs were a little low. He tends to fluctuate anyway. So, we stayed overnight for observation. Hunter had some studies done of his heart, which showed something floating, which was actually attached. We were then referred to a Dr. William Ham, pediatric cardiologist, in Macon, Georgia. Dr. Ham ordered an echocardiograph, which showed that this was actually normal. It was just a part of Hunter's heart? This is something I still don't understand. Hunter finally had his cast changed right before Christmas. We followed up with Dr. Meehan in January, 2000. The spika-cast was removed and Hunter was given a brace to wear when sleeping. Hunter automatically pulls his legs up anyway. He moves his legs a little bit and his feet are still swollen. Since Hunter has come out of his cast, he now weighs 25 lbs., and is 32 inches long. He has developmental delays. He has very little head and neck control. He had tear duct surgery. He passed his swallow study, but eats very little by mouth. He is tongue-tied and will have his tongue clipped in the near future to help with his swallowing. Hunter has speech therapy 3 times a week. His therapist's name is Nicole Robbins. I've seen great progress since she's been seeing Hunter. Hunter has occupational therapy two times a week. His therapist is Lori Mealor. She has also made great progress with Hunter. He moves his head from side to side and up and down. He can track toys. He always keeps an eye on me (his mommy) and he always listens when I am talking. He will reach for toys and look at them. He sucks both thumbs and on his arms at times. He loves to touch me when I hold him. I believe Hunter is a very strong and determined little boy. He has been through so much in such a little bit of time. I have accepted Hunter's illness as a challenge. I will help him do and be whatever he desires. He's my baby and I love him. If anyone would like to talk, feel free to contact me, I would love to learn anything and everything about Trisomy 7.

Salley Crutchfield, huntery33099@yahoo.com

Addendum: CDO is sad to report that Hunter Cole Crutchfield died on May 19, 2000 of congestive heart failure. His mother wanted us to print her letter so she could share with us what a very brave and special little boy he was. He touched the hearts of many, and we know he will be sorrowfully missed by all who knew him.