Difference between revisions of "Overview"

Revision as of 11:29, 6 April 2005

I believe that children diagnosed today will have much better outcomes than the 20 and 30 year old PWS patients you see described on television and in the clinical textbooks. Why do I believe that? Because I believe in the power of early intervention. We have the benefit of an early diagnosis, of knowledge, of a network of parents, of growth hormone, and of therapy specialists. These are things that that parents before us did not have. They were working in the dark most of the time trying desperately to find anything that might help their child just a bit.

I believe that environment can make a huge difference in tech outcome of a patient with PWS and this is why: Evidence suggests that the nervous system/behavior and metabolism are both highly redundant systems that are designed to adapt to the environment. It is likely that the reason the deletion occurs in the PWS area of chromosome 15 is that there are a cluster of genes related to behavior and metabolism. It is to the benefit of the species to shake things up a bit by mixing and matching these genes as differences in behavior and metabolism can have a huge effect on whether an individual survives or perishes. So, there are recombinant hot spots in the gene around that part of chromosome 15. Mostly, these genes rearrange and mix and match and you get variability without pathology. Unfortunately in the case of our children the process wasn't seamless. But, the fact remains that this mistake affects two systems (nervous and metabolism) that are extremely redundant and which are designed to respond and adapt to environmental stimuli. So, here are a few bullet points. I would love it if others would refine and elaborate upon these ideas and add additional ones.

• calorie intake during the first year of life is related to later cognitive functioning and especially language development. Thus, children who are diagnosed early and are on feeding tubes and get the calories they need are expected to have better outcomes.

• EFAs available in breastmilk and lipil formula and in fish oil are associated with improved cognitive functioning. EFAs in formula are relatively new. Also I think many of us pumped longer because we had a diagnosis then we would have if we thought it was simply a matter of us not "having enough milk" for our baby.

• vitamin E promotes vascular growth. The supplements we are giving may be promoting increased strength and increased cognitive functioning.

• exploration of the environment during that critical first year is associated with higher cognitive functioning. Our children are on growth hormone and thus tend to meet motor milestones early and therefore are likely to have reap cognitive rewards from this.

• movement builds muscle strength and muscle strength allows for more movement and confidence in the body and the body's ability to achieve physical goals. This should translate into improved long term body image and a greater quality of life.

• GH shifts body composition from fat to lean muscle. This allows for a higher consumption of calories which means that our children may not have to be on diets that are as restrictive in terms of calories.

• ability to achieve normal physical milestones means that a child has more physical options open to them and may learn to take pleasure from swimming or running or gymnastics. This is something that is probably out of the question for a child who is already obese. An understanding of the pleasure that comes from exercise and the habit of exercising may translate into a more active lifestyle with many obvious health benefits.

• active individuals burn more calories. If our children have improved muscle mass, improved stamina, improved coordination, and are in the habit of exercising they are likely to lead more active lifestyles that will burn more calories. This will mean that they will not have to be on the restrictive diets required of older PWS folks.

• Stimulation of the periphery (massage, etc.) promotes peripheral nerve growth. Our children are missing a gene that is important for peripheral nerve growth. When we massage and stimulate the periphery we are likely encouraging tech nervous system to compensate.

• infants that are held and rocked are healthier and develop better social/behavioral skills. We know not to leave our "weak" babies in tech corner until they get their strength back, by which time a critical window of development may be over.

• PWS folks often have sleep disturbances that translate into fatigue, behavioral problems, lower functioning, inactivity, and weight gain. The field of sleep science is rapidly advancing and there are already several drugs available that are quite promising in terms of relieving these symptoms. Not to mention that fact that awareness of these sleep issues has already prompted more "simple" steps such as the oxygen masks, etc. that can be quite helpful. A child that spends the first 12 years of life in a sleep deprived state has lost those years forever. You can never completely make up that opportunity to socialize and learn to read and write and count, etc.

• there is an incredible amount of effort right now focused on appetite suppressant drugs and devices. Chances are that one or more of these drugs will be helpful to your child by the time that your child needs it.

Finally, don't forget that the increasing awareness of PWS and the improved diagnostic tools (methylation, etc.) means that there are more and more individuals diagnosed with PWS. I believe that many of these individuals may still be in their 20's, 30's, and older and doing quite fine. They are probably overweight and they may not be Einsteins, but they are fine. So, I think that if there is a person over 20 who diagnosed with PWS, they likely had pretty strong clinical symptoms in order to go to an endocrinologist or geneticist and get tested. Just from reading the posts on this list I would say that many of our kids would not have been diagnosed 10 years ago because their clinical symptoms are relatively mild.

And finally, we can share information and tips and support through the Internet. The technology of the world wide web has made it possible for parents of children with a rare condition to form a tight community and share information and hope.

When you read about PWS and the outcomes from this syndrome, remember that those individuals were diagnosed as children. They and their families did not have the advantage of early diagnosis and early interventions. There is every reason to think that the outcome for our children will be incredibly different. We can learn from the efforts of past families and we can learn from the efforts of current families.

The early interventions on the Main_Page are meant to be a gathering of different thoughts and opinions. My preference would be to keep all ideas on this list. If you have a negative feeling or a warning about any of these early interventions, by all means write the warning. Not all interventions are right for all children and all families. This is meant to merely be a gathering point for interventions that may be useful.