Do you have a question you’d like to ask? I’d be glad to answer any lingering questions you may have. Leave your question in a comment on this blog or contact me on Facebook!
Any suggestions for things you’d like to see on this blog? You can also make your suggestions!
Q: How did you find out that Drew had TAR Syndrome?
A: We knew from the get-go that we’d have to have early testing because of my known balanced translocation so we began seeing doctors and a genetic counselor at Vanderbilt in Nashville, TN right away. The first test that we looked forward to was a CVS which is a sampling of some finger-like tissue in the uterus. Unlike an amniocentesis, a CVS can be done much earlier in the pregnancy, around the 2nd to 3rd month. The sampling is examined under a microscope and the chromosomes are analyzed and counted to determine if there are any anomalies. The results came back inconclusive. They were able to tell that there was definitely some anomalies, especially with chromosome 1, but the results seemed to change each time they analyzed the chromosomes so it was a big disappointment to wait the many weeks for the result and then learn that I had to have an amniocentesis. I did get to learn at this time that the baby was a boy.
We scheduled the amniocentesis for a few weeks later, around about the 4th to 5th month . I travelled to Nashville alone since Nathan was at work at the time and I guess denial made me not be too concerned about being alone. I spoke with the genetic counselor beforehand who explained that she thought that it could be something called Beckwith-Wiederman which is a condition that results in parts on one side of the body to be slightly larger than the other side. I was encouraged to learn that the asymmetry was only noticeable with a keen eye. I thought, “Hey! That’s not bad at all!” She suggested we do an ultrasound and see if we can see any abnormalities and if none are seen, then we don’t have to do an amniocentesis. So off we went to the ultrasound room.
It seemed like it took FOREVER as the technician had me twist side to side and really seemed to be concentrating very hard. I really didn’t have any feelings up to this point because it was just so routine for me. The obstetrician announced that the technician was having a hard time finding the baby’s arms. She continued to poke, push, twist and concentrate. Then the obstetrician announced that it appeared as if the baby’s arms were severely shortened. I didn’t have much of a reaction at this point surprisingly. I just nodded that I understood and let them carry on. I guess it was just shock, but I just didn’t have any feelings at that point. Upon the announcement, the genetic counselor who was present had left the room to do some impromptu research. The doctor suggested that we carry through with doing the amniocentesis per the discovery.
It was confirmed a couple of weeks later that it was indeed TAR Syndrome. And that is how we found out it was TAR Syndrome.
Q: What’s wrong with Drew?
A: There’s nothing wrong with him. He’s perfect. He is exactly as he was meant to be and I wouldn’t change a single thing about him. To learn more about Drew, click here.
Q: What’s life like for Drew?
A: Many people ask me this question and I sometimes get the giggles because I honestly forget how “different” our child-bearing is. Those of you who know me well know that I’ve never had a “normal” pregnancy. So, this is “normal” to me. I sometimes think raising a child with your run-of-the-mill problems would be “abnormal.” What do you mean to you don’t go to the doctor twice a month? You mean, he/she has NEVER had an x-ray? You only see one doctor? ha!
Since birth, Nathan and I have spent a lot of time and effort managing Drew’s various ailments. Drew is followed regularly by seven doctors:
- Hematologist in Vanderbilt to monitor his Thrombocytapenia. For the first 2 months of Drew’s life, we saw Hematology once a week while Drew received platelet transfusions. Once Drew’s platelets seemed to level out and maintain an acceptable level, we saw hemoc every three months, then every 6 months and our last visit we were told we only have to see hemoc once a year now. Yay! When we see hemoc, they take some blood and count the platelets. With Drew’s age, they simply need to be above 20,000. Until he was 6 months, they had to be above 40,000. He hasn’t required a transfusion due to low platelets since he was 2 months old (he has had transfusions that were required before surgery to minimize the bleeding since then.) During his last platelet checks, his levels were 75-000 to 80,000. You and I would have 150,000 to 400,000 platelets to give you a comparison. We have to get a platelet check before we do vaccinations, if he were to have a serious injury, or if he were to have an invasive procedure.
- Cardiologist in Vanderbilt. Like hemoc, we started seeing every three months, then 6 months then during our last visit Drew’s condition hadn’t progressed so now we only have to see once a year. When we do go, Drew has to get an echocardiogram (like an ultrasound of the heart) and sometimes a chest x-ray. They are monitoring a valve that leaks blood back into the chamber. If it were to get worse, they’d have to go in and fix it. Right now, he has a significant heart murmur but only requires blood pressure medicine to lessen the work his heart must do.
- Orthopaedics in Vanderbilt. Drew is followed by several orthopaedic doctors – two upper extremity doctors (for hands) and one lower extremity (for legs). Of course, we’ve seen orthopaedics in Boston as well. Ortho doctors collect x-rays and examine Drew’s hands and legs.
- Eye doctor in Evansville. Drew has an eye that sometimes wanders so we have a doctor monitoring that to determine if we ever need to go in and fix it.
- Ear doctor in Henderson. Like every other kid, Drew has struggled with ear infections. Drew had tubes placed in his ears, then he got MRSA in his ear while we were in Boston and had to have one taken out. But, Drew’s hearing is fine.
- And, of course, a pediatrician for physicals, vaccinations, etc.
Drew has also been seen previously by a few other doctors for various ailments. We only see these doctors if we encounter a problem:
- Urology in Vanderbilt. Because of Drew’s thrombocytapenia we couldn’t circumcise him at birth so we had to wait until his platelets were stronger. He got many urinary tract infections (one when he was two weeks old that got into his blood and forced him to be admitted to Vanderbilt for two weeks!!)
- Gastroentorology in Vanderbilt. Drew seemed to stall in growth, refuse to eat, and had terrible vomiting bouts. With TAR Syndrome, there is a known milk allergy that happens in about half of the cases, but we’d confirmed through an allergist that Drew doesn’t have the milk allergy. But, Drew was not eating well and would have bizarre vomiting episodes so we saw a gastroentorologist who examined Drew’s stomach and intestines for any abnormalities. None were found and we determined that he must be lactose intolerant. Now, Drew doesn’t have milk as in a glass of milk, but he doesn’t have any problems eating cheese or ice cream.
- Geneticist in Vanderbilt. The geneticist simply notes Drew’s growth and milestones to compare to other cases of TAR.
Drew has had several hospital admissions:
- Urinary Tract Infection in February 2008 for two weeks so they could administer high doses of antibiotics
- Open heart surgery in January 2009 for 5 days
- Circumcision in October 2009 overnight
- Sigmoidoscopy in February 2010 for gastroinstestinal issues overnight
- Failure to thrive in March 2010 overnight
All in all, Drew has had more than 71 doctor’s appointments, 53 tests (x-ray, blood, etc.), 11 doctors, and 5 hospital admissions. All of that together equals some interaction with a doctor at least once a week.
Drew also has had weekly therapy: occupational therapy, physical therapy and speech therapy.
Occupational therapy works with Drew on basic skills such as using his fingers and hands to manipulate objects, matching colors and shapes, use devices in adapted ways, etc. Drew loved occupational therapy because of all the great toys.
Physical therapy works with Drew on stretching his legs, balance, weight-bearing, etc. Drew does NOT like physical therapy because of all the work required!
Speech therapy works with Drew on…well…speech!
As far as life at home, it’s not as abnormal as one may think. We don’t have to make a lot of adjustments to suit Drew’s needs. We can’t use toy chests because Drew can’t reach to the bottom so, unfortunately for our house, we have to keep Drew’s toys around the perimeter of each room. We have to decide upon an adaptive toilet device and we are also in the market for a wheelchair. Reading the previous statement makes me question my initial statement, “As far as life at home, it’s not as abnormal as one may think,” but I honestly don’t look at life with Drew as abnormal.
Although it seems like a lot of grief and effort, I don’t look at it as a disadvantage or “the downside to every upside.” It’s just life as I know it and I don’t regret it, I don’t resent it and I’d do it again without hesitation. Drew is worth it.
Q: How do you do it all?
A: I can see how our life seems difficult and stressful, but to me going back and forth to doctors and adapting items are normal to me. Doctor appointments have grown farther and farther apart since his first year so perhaps it’s downhill from here.
It does help that there is a tremendously generous person who set up a charity for parents traveling with kids in need of medical attention to reimburse us for expenses. So, we are reimbursed for lodging, food, and mileage on our vehicles. If it weren’t for that, I have a feeling we’d be struggling a lot more than we are now. During Drew’s first two months, we made, I think, 10 or so round-trips to Nashville – imagine the gas!!
We also have a very strong support system with our friends and family who provide day care and a shoulder to lean on if necessary. If it weren’t for them, we certainly wouldn’t be able for both of us to maintain full-time jobs.
Upon learning that Drew had TAR Syndrome, I quickly found an online support group who answers questions and it is helpful to speak with people who know what I’m going through.
It helps that my tenure, job position, and performance at my place of work gives me flexibility to take time off of work and I always have the option of working from home which will come in handy if we have to temporarily move out of state for any surgeries.
But, no matter how strong you are, there are moments of weakness and I admit I do encounter times of anxiety. I never complain about having to go through all of this, but mainly just worried for Drew’s well-being. Knowing that Drew will undergo multiple surgeries, be confined in casts and beds for an extended amount of time absolutely breaks my heart. Drew is so active and enjoys the outdoors more than I would have ever expected so I get anxious when I think about him being unable to enjoy doing those things while we pursue corrective surgery.
I’m sure that my fuse is a little shorter than it was previously and I’m sure my overall energy level has suffered as well, but like I said before I wouldn’t change a thing – not for all of the patience and energy in the world. Anytime I get too frustrated or need a “pick-me-up” I watch Drew for a moment and he will surely make me smile and my worries float away.