In November, we traveled to MSU to see Dr Conway, a geneticist that has done a lot of research with M-CM. Dr Conway had been at Ceadar Sinai in California and had diagnosed some of the kids that we have "met" (online) and amazingly he moved to Michigan! We feel so blessed to have a great geneticist that actually knows something about M-CM so close to us. We spent 3 hours with Dr Conway and the genetic couselor. He answered all of our questions and reviewed all of Jackson's MRIs with us. M-CM has only been recognized as a syndrome since 1997 so there is still a lot of unknowns with it. Dr. Conway was impressed with the size of Jackson's chiari (his brain overgrowth) since it was so large and was equally impressed with our neurosurgeon and the "aggressive" decompression surgery that he performed. He actually recently contacted me to get permission to speak with our neurosurgeon to discuss surgical management of kids with M-CM. This makes Eric and I feel so good that Jackson has received such great care and he has such a great neurosurgeon. We also discussed how often Jackson needs MRI's, ultrasounds, and other test and specialties. We decided to continue to do ultrasounds every three months (this is to check for any tumors since M-CM is an overgrowth syndrome it cause a higher incidence of tumors), and to do MRI more frequently. Finally, we also discussed the risk of having future children with M-CM. So far the cause of M-CM is unknown, but there has never been a reported case with 2 children with M-CM in the same family. Therefore, it is believed to be a sporatic, random mutation in the genes. He told to go ahead a have future children (not that we are planning to have another one soon). Jackson is now also enrolled in a research study to try to find the gene that causes M-CM. Honestly, this was probably the most informative doctors appointment that I have had since Jackson was born and I felt so good about all that we have done and are doing for Jackson. As for Jackson, he continues to surprise us all the time. He can now pull himself up next to furniture and if he is really motivated he will even take a few step along it. He is getting new braces next week and we just recently ordered a Kidwalk (a gait trainer) that will help him learn to walk. We are so excited for all that Jackson has accomplished, plus he is the happiest, sweetest kid ever!
