Millie Jordin Arjoon was born April 4, 2012 and today is 17 months old. Millie is amazing little girl. She is so happy all the time, rarely (and I mean rarely) cries and loves to laugh. Her little giggle when she is tickled is contagious and when she smiles she lights up the room.
We started the testing process at about 4 months of age. Her family doctor noticed that something wasn’t right when she wasn’t hitting her milestones. We were referred to a pediatrician who sent us for a myriad of testing which included neurology exams, genetic testing, MRI, muscle and nerve testing, ECG and Echo, full body x-ray, blood work, etc.
It was the muscle and nerve testing that first indicated there was a muscle issue. We started the testing process at Sick Kids Hospital (we still go there for other tests) and were eventually referred to the Hamilton Children’s Hospital to a muscle specialist who from the moment he saw here was convinced she had a form of muscular dystrophy called Ulrich. Ulrich is a very rare form of Muscular Dystrophy that is caused by the lack of collagen in the muscles, in turn making the muscles very weak. Her MRI also showed some trauma to her brain which would be usually caused by lack of oxygen to the brain during pregnancy or during the birthing process but Millie did not have any of these issues. The doctors at Sick Kids said that if she didn’t have the muscle issue and just looked at the MRI, the “grey” matter in her brain could be consistent with a diagnosis of Cerebral Palsy but because of her muscle issue they are stumped and do not have any answers for us.
It has taken awhile for us to get to where we are today as there is so much waiting involved for test results to come back. We are not even 100% sure yet that Millie has Ulrich but her muscle specialist is pretty convinced. He had conducted genetic blood tests on her as well as me and my husband. Most recently Millie had a skin biopsy that will hopefully confirm his hypothesis so that we can move forward. If not, it is back to the drawing board. At least we know for sure that she has a problem with her muscles.
Currently, Millie cannot sit without being assisted/held or in a “over the shoulder” strap in her high chair. She cannot roll over (only from side to side) and she cannot crawl or walk. She still eats pureed food as she cannot chew properly and eventually ends up choking. She has poor head control in that when on her tummy, she cannot lift her head up.
We started physiotherapy about 5 – 6 months ago and she recently started Occupational therapy as well as speech therapy about 2 months ago. She is far off from talking but the speech therapy will work with her on signs and gestures for now. She doesn’t really have any words just yet but we do get a mama and dada out of her every once in awhile but she loves to scream (in a good way) and babble ☺ She absolutely loves the water and we try and get her in the pool at least 2 times a week as she loves to splash and kick her legs. We think she feels more freedom in the water and that is why she loves it so much.
We just this week received a stander on loan from her physical therapist which will help to give Millie a different perspective as she is standing while supported. I think we are a long way off from walking, and it may never happen for her but we are optimistic and work really hard to get her sitting, moving and most of all just to make her happy. Developmentally and cognitively, we believe Millie is delayed by about 6 – 8 months and think this is directly related to her muscle issues. She has learned to blow kisses, clap and stick her tongue out at you.
Millie is the light of our lives. She will face many challenges in her life, but none that she will not be able to overcome. She has taught us both to be patient, caring, understanding, compassionate and most of all to be better parents. It is amazing how a little girl who is only 17 months old can do all of those things!
-Trina and Jordon Arjoon