I need to start this post with two disclaimers:
- Although we are delighted that our son can still walk independently at age 19 in spite of MECP2 Duplication syndrome, we can’t take credit for this. Like most parents, we do the best we can for our son, but we know that much of this is out of our hands. We can’t take credit for his successes, and we try not to blame ourselves when things don’t go so well.
- My thoughts that I am sharing below are only speculations, based on my own limited knowledge and experience. Families and professionals working with children or adults with MECP2 duplication syndrome are welcome to consider them as hypotheses, but they should not be taken as advice or proven therapeutic approaches.
Having made these two disclaimers, here are some thoughts.
About Dave’s Walking Dave was roughly three years and nine months old when he began walking independently. His gait was always wide an looked a bit unsteady, but during his best walking years he could walk for a mile or more, climb stairs (with a railing), and get himself up to standing and start walking from sitting or kneeling on the floor without holding on to anything. At 19, he has lost some of these skills but he still can walk for 5 minutes or more without assistance.
Walking and MECP2 Duplication Syndrome Dave’s pattern is pretty typical of individuals with MECP2 Duplication Syndrome. Some never learn to walk on their own; Others learn walking a bit later than typically developing children, but generally lose their ability to walk as they get older.
Why is Walking Lost? This may seem like a silly question. By now, it is well known that MECP2 Duplication Syndrome is a degenerative condition that progresses over time. So losing skills is to be expected, right? Well, I am not going to argue with that answer, but I think it might be only part of the answer. There may be a number of other factors that interact with this in various ways that can significantly affect how long walking can be maintained.Before discussing some of these possible factors, I will share what little I can about what seemed to be helpful for our son in learning to walk independently. here are a few things that seemed to be helpful.
Motivation, Practice, and Footwear Motivation would have to go to the top of the list here. When Dave was 3, we started a preschool program at our local rehab hospital full of children his age who were still not walking. After one or two classes, Dave was expelled from school because the therapists said he was not a good candidate to learn to walk independently. So we enrolled him in a community daycare with regular kids his age with an assistant and occasional visits form consultants. Within three weeks, Dave was walking independently. Ironically, he was walking before any of the children who remained back in the rehab preschool that the experts proclaimed that he could not keep up with. Of course, there might be a lot of explanations for this, but shortly before Dave started walking, his classroom assistant said, ” he watches the otehr kids walking and two by two and he really wants to do that, too.” We’re inclined to believe that played a role.
Before David was awalking independently, he was in a Saturday morning gym class with other kids and he also learned to walk with a Kaye Walker a bit. He got lots of opportunities to practice and these opportunities are important for any child to learn to walk.
Finally, the right kind of shoes are important for learning walking. Unfortunately, for children who don’t walk until they are older, it can be hard to find the right kind of first walking shoes in their size. We found some good shoes for him from Stride-Rite that definitely helped him.
Factors that make it difficult to maintain walking
Progressive neurological disorder Of course, MECP2 Duplication Syndrome is typically a progressive disorder, and that in itself could explain loss of walking skills….. but there may be other factors.
Seizures The actual incidence of occurrence of seizures among children and adults with MECP2 Duplication Syndrome is actually difficult to determine. Many articles describe seizures as occurring in about half the cases. This may be correct, but also misleading. Seizures are more common in older children, adolescents, and adults. So they are less common in young children but very common in by adolescence. Seizures may contribute in several ways. First, medications to control seizures may have a negative effect on strength, balance, and coordination. This may add an added challenge for the individual who already has difficulty walking. Second, seizures, particularly the frequent myoclonic and astatic seizures commonly seen among individuals with MECP2 Duplication Syndrome make walking and standing hazardous. During Dave’s worst periods for seizures, he had many bad falls and he rarely wanted to leave his bed without help. His school staff also felt they could not keep him adequately safe and he began to spend most his days in a wheel chair. As result, he walked a lot less, and had a lot less practice. Seizure control, of course, is important and difficult to achieve for many individuals with MECP2 Duplication Syndrome, but it is also important not to use more medication than is needed to preserve function. Also, it may be necessary to limit independent walking when seizures are too frequent, but if this is necessary make sure that there are regular opportunities to practice walking with adequate protections in place.
Lower Limb Spasticity Individuals with MECP2 Duplication Syndrome typically develop a pattern of low muscle tone in their trunk and face but increasing tone and excessive tightness in their legs (and possibly arms) as they get older. This makes walking a lot harder. There may not be any way to prevent this entirely, but there are some exercises and physical therapy that can maintain more mobility of the ankles and knees, and these can really help maintain walking longer.
Practice, Practice, Practice! As previously mentioned practice is important. We have been delighted to see some actual improvement in Dave’s walking in the last month or so. This appears to be the result of increasing practice as his current assistant has him up and walking for increasingly longer periods. He is getting stronger and walking more on his own. We don’t know how far this can go, but we do see that even at age 19, walking can improve.
If other families or professionals, have additional ideas about how to maintain walking. Please use the comment or repl box below to post them here. Of course, every individual is different, and different things may be best for different individuals. If any of these ideas seem like they may be helpful to your child or loved one, discuss them with your healthcare providers and allied health professionals.