Noelle Beer - Marfan syndrome

Written in 2014 by parents Tanya and Kevin Beer

Noelle was diagnosed with Marfan syndrome at the age of 16 months. The month of April was exciting for us. We had hosted our first ever fundraiser supporting the Canadian Marfan Association, now known as the Genetic Aortic Disorders Association (GADA) Canada, at the Scarborough Golf and Country Club. What an amazing turn out of family and friends. We had a great time and thank everyone for their support.

In May we went to see Noelle’s orthopedic surgeon at Sick Kids and completed an x-ray of Noelle’s spine. They compared last year’s x-ray to this year’s and there was a significant increase in the curve of her spine. The increased curve was causing her internal organs to shift significantly. Steps were needed to be taken in order for Noelle’s organs to grow and develop properly. An appointment was made to have her upper body casted. This resulted in Noelle’s annual appointment with her cardiologist to be moved up because her annual echocardiogram could not be done once the cast was on. That same week she also saw her eye specialist and they mentioned that she was showing signs of early retinal detachment which will be further monitored.

In June we visited Noelle’s cardiologist at Sick Kids and had her heart checked. It showed her aorta, just above the valve had widened within the year. Her condition changed from mild to moderate and she has now been put on a medication called Losartan which she will be required to take for the rest of her life. Losartan is a blood pressure medication, but in recent studies has been promising and has shown therapeutic effects on Marfan patients’ lungs, spine and eyes. By taking this medication daily, the hope is that it will help decrease the rate of growth of the aorta, hopefully slowing down or preventing Noelle from moving to a severe case in where she would require open heart surgery to repair the aorta and valve. We go back to see her cardiologist in January to see how the medication is working and see if the aorta at the valve has expanded any further.

On July 9th, Noelle had her first of 3 casts put on at Sick Kids. The casting took about 2 hours and Noelle was asleep for the whole process. She was put onto a special frame and then was put in upper body traction to straighten her up. Noelle had to spend one night at Sick Kids just to be observed and have her cast adjusted the next day.

We were extremely worried about how Noelle would react to being in a cast. It was hard for us as parents to explain to a 2 year old what was going on and were concerned about how she would adapt. To our surprise, Noelle did extremely well. The first week was a bit challenging for all of us, just getting used to doing things differently. But we slowly figured it out as we went. Noelle can’t go in the water so no swimming or baths; it has made trying to keep her clean interesting. She has taught herself how to bend down and grab things off the floor and how to climb again. She tends to fall easily as the cast is a little bulky and top heavy. It also doesn’t help she can’t see her feet and easily gets caught off balance. There are several things that we had to change in our day to day lives, but for the most part she is doing amazing. Her strong personality has definitely helped her to push forward and just do what she’s got to do despite the cast on her. She has definitely been in great spirits and an inspiration to us.

Noelle’s 2nd went on September 10th and her 3rd on November 27th. By January Noelle’s casting treatments should be complete and the cast will be removed. At that point she will receive an upper body brace that she will have to wear daily. Going forward her treatments will be based on her response to these casting treatments that have been done. We don’t know how her spine will progress and not knowing is scary but the best we can do is deal with these issues as they appear. For now she will continue with the brace. If the curve comes back she will need to be casted again and if the repeat casting doesn’t help she will have a growing system put in her back and when she is big enough her spine will be fused.

The rest of the year has been busy but in a positive direction. She has another appointment with her eye specialist to see if the detachment of the lens in her eye has progressed and also to determine if there will be any types of eye surgeries for Noelle in the near future. Noelle also continues physiotherapy at Grandview Children’s Centre in Ajax. On September 28th, Team Noelle (me and a group of family and friends) walked 5 km in support of Grandview Children’s Center. We want to thank Grandview Children’s Centre for all their support and the Canadian Marfan Association who supports research, educate healthcare professionals, and supports patients and their families. Thank you to all those who have supported us, In the end, I would like to leave with this quote which truly expresses how Noelle has inspired us;

“While we try to teach our children all about life, our children teach us what life is all about.”  - unknown