KIRSTENRetrun to 22q Stories
You are here
Our story began on April 7, 2005 when we had a beautiful little 7lbs., 2 oz. little girl.
Kirsten was our first baby and we were so excited to be parents. Everything seemed great, but we immediately noticed that Kirsten had a difficult time nursing. The nurse thought that she heard a murmur but the pediatric physician didn’t hear it so no tests were ran. After coming home from the hospital she continued to have nursing problems. At one week old our pediatrician did hear what he thought was a heart murmur. He told us that it was normal and would likely grow up within a week.
One week later he saw us again and said that it sounded like a VSD. He referred us to a pediatric cardiologist. The cardiologist discovered that Kirsten had an ASD, VSD, and a PDA. She had open heart surgery at the age of 1 to repair the heart disease. We were so relieved to know that she was healed and we thought our nightmare was over.
Little did we know that this was just the beginning.
After the surgery Kirsten started getting sick all the time. She was constantly getting upper respiratory infections and colds. Then came the asthma and frequent croup episodes. We also discovered that she has environmental allergies and had to begin breathing treatments and allergy medications. Then at the age of 3 Kirsten started talking only no one could understand her because she had a very hyper nasal speech and her pronunciation was very much delayed. She went through extensive speech therapy in pre-school at the age of 3 and 4. She was also delayed in pretty much everything from walking, talking, to even getting her first tooth at 17 months old.
She’s always been a lot smaller than other children too. She was shyer than a lot of other children her age and was scared to try new things, but at the same time she tried hard to please everyone around her. Although she had many struggles she was a pretty happy kid. She adores music and art. She has a piano, guitar, and even a drum set. She runs around the house pretending to be Taylor Swift and can spend hours coloring. She loves going to music shows and plays. She becomes engrossed with anything musical or in the arts field. She also loves gymnastics and jumping on the trampoline. We’re thankful that she has good outlets.
At the age of 5 she tested out of speech but she still had the hyper nasal speech and high pitched voice. We thought kindergarten was going to be a great and healthy year, but we then discovered that she had scoliosis which will require fusion surgery around the age of 10. She’s been in a back brace since May of 2011 and wears it 20-plus hours a day. Her curve is currently 31 degrees and is expected to progress drastically when she reaches adolescents. She continued to get strep and other respiratory infections all through kindergarten.
Once Kirsten reached first grade she was still getting sick all the time. In fact within the first two weeks of school Kirsten got strep throat again. In October of 2011 she had her tonsils removed. Following the surgery her speech regressed back to what it was at the age of 3 as if she’d never had speech therapy. We took her back to the ENT and he immediately sent us to Pittsburgh Children’s hospital for a second opinion. That ENT examined her, listened to her medical history, and really looked at her features. Then he said that he thought that she has Velo-Cardio Facial Syndrome also known as 22q Micro Deletion Syndrome. She was tested and it came back positive.
Our lives had changed in an instant.
On one hand it was a relief to have an answer to her health issue, but then we quickly realized that just because you have a diagnosis doesn’t mean that you no longer feel alone. We realized that no one around us including our own doctors, specialists, school district, and the people in our community knew very little if anything about 22q Micro Deletion Syndrome. I became infuriated. How could our child have so many symptoms and how could we have gone 6 ½ years with no one picking up on this? How is it that a child can have so many specialists and yet not one person even thought to test her for this? I was not only devastated, but incredibly saddened. See we had expressed to all of Kirsten’s doctors from the beginning that we strongly felt that something wasn’t right and that all of this had to be related, yet no one picked it up or listened to us.
We were told in a very professional and polite way that we were worrying too much and that some kids just “get sick.” We were told that her symptoms couldn’t be related and that her heart disease is really common so there wasn’t any reason to test her for anything else. While it was true that some kids get sick and a VSD is common, it’s not normal for a child to have multiple symptoms and in most cases in which a child has a heart disease, VPD, developmental delays, scoliosis, frequent illnesses, etc. it is usually due to some type of other medical condition or syndrome. It’s also interesting to know that while most people haven’t heard of this syndrome it actually affects 1:4000 kids and is the second most common syndrome after Down’s Syndrome — 1 in 68 children born with a heart disease have 22q Miro Deletion Syndrome. People just don’t seem to want to know anything about this syndrome. This is really sad because these kids need good health care and need communities, doctors, teachers, specialists, etc to be aware so that more kids can be diagnosed and treated properly.
Once we got the diagnosis we vowed to do all that we could to learn about this syndrome and tell our story to anyone that would listen. I guess you could say that we turned into research hounds. We’ve been reading books, searching sites, reading anything that we could about the syndrome. As her mom I have become consumed with it. I have vowed to make sure that all of our doctors know that they not only missed this, but that this syndrome is very common. I don’t want any other child or family to go 6 1/2 years without answers like we did.
In doing all of this research I came across a 22q clinic in Columbus, Ohio. This clinic is comprised of all different medical specialists and surgeons that are known throughout the country for their knowledge and care for children with 22q. I made an appointment, fought our health provider to cover the appointment, and saw to it that Kirsten had the very best. Now she does. This clinic is amazing. For the first time we felt like Kirsten’s health made sense. We saw several teams of doctors and they all wanted to hear our story starting from pregnancy. Finally someone really listened and they understood. The geneticist at the clinic immediately ordered a complete immune work up on Kirsten since many of these kids have immune issues. Kristen does show some signs of this including terrible leg and foot pain at night which she’s had for years. We’ve always been told that its growing pains or due to the scoliosis but it could be due to low calcium levels. She also has had digestive issues since infancy. Kirsten will be undergoing a kidney renal exam too. She will also have a Nero Phyc exam to test her cognitively for any learning disabilities. This doctor will be making any IEP recommendations to our school so that we can ensure that Kirsten is getting the best education possible. Kirsten was seen by a speech scientist and the chief of plastic surgery because Kirsten suffers from a VPD. A VPD is condition where the velopharyngeal valve does not close consistently and completely during the production of oral sounds so basically Kirsten has a lot of extra space in the back of her throat. This causes a lot of air to gush through her nose causing hyper nasal speech. Normal hyper nasal speech is 10 percent and Kirsten is ranging from 46-67 percent which is clearly a problem. The speech and plastic surgery team determined that Kirsten’s VPD can be corrected via surgery. The chief of plastic surgery will be doing a Velo-Pharyngeal Flap surgery to correct this on Feb. 8, 2012..
We’ll be going down on the 7th for pre-op and for another visit. Providing there are no complications she’ll be released from the hospital on Feb. 10. This surgery will fix Kirsten’s speech and for the first time ever she’ll sound like other kids her own age. We are thrilled to know that we can at least fix this symptom and make things a little easier for her. We are pleased with where things are going now and cannot be more pleased with the care that Kirsten is receiving from Dr. Atkin, Dr. Bayliss, and Dr. Kirschner at the 22q clinic. While we are nervous about yet another surgery, but we also know that the outcome will be fantastic. Thank you for hearing our story and I hope that this helps to bring more awareness to 22q Micro Deletion Syndrome.