The past few months have been a whirlwind! We have sold our house (after 3 years of trying), moved to a new city, established a new therapy team for Max, and enrolled our oldest in preschool. Several months ago, Ed, myself, and Maxwell had our blood taken for a detailed genetic test. The results came in with an actual diagnosis for Max. I took a step back, to process the new information we have been given, to adjust to our new surroundings, unpack, and try to create a new routine.
Last week, our geneticist called to discuss the results of Maxwell’s whole exome sequencing analysis. The diagnosis: Congenital Rett Syndrome, a mutation of the FOXG1 gene, de novo (meaning no parent carries the mutated gene). The words “Rett Syndrome” seared into my skull like a hot iron branding a cow. I winced, because of course, I have googled Rett Syndrome, and what I read was not good. I was slightly relieved to find out that Rett Syndrome is kind of like an umbrella diagnosis, and more specific syndromes, are underneath. The syndrome Max has is actually called FOXG1 Syndrome. Though FOXG1 Syndrome and Congenital Rett Syndrome are different, on a report, they appear together as the same. Confusing, right? Here is what we know.
FOXG1 is a protein that is essential to the brain development in babies. There is not much known about FOXG1 Syndrome as there are very few diagnosed with this rare condition. We are talking about possibly 220+ people in the world who have been diagnosed. It causes severe motor delays, microcephaly, seizures, absent language, apraxia, jerky movements and mental retardation. (This info is coming from a medical publication from 2011).
Genes can mutate in a number of ways. According to the doctor, and a database that contains results from genetic tests from all over the world, Maxwell’s specific mutation of the FOXG1 gene is the only one reported so far. His FOXG1 gene mutated a stop codon that prevented the production of 267 amino acids needed for the protein to function properly. He is missing over half of these amino acids, and the report says they are “lost.”
The geneticist could not give a prognosis, because they simply, do not know. Maxwell is different, like so many of his FOX friends we have met through a support group. We were told that Maxwell’s diagnosis of Congenital Rett Syndrome should mean that his ability to learn and progress should be very limited if not at all. However, this is not the case. FOXG1 Syndrome seems to be different than Retts. Max continues to make progress in all areas of development. He is capable of learning, expressing himself through his actions, and gaining strength to try to tackle milestones like rolling over.
The improvement in his MRI from June 2015 to June 2016 was one of the most exciting and promising discoveries. In 2015, Maxwell’s MRI showed borderline delayed myelination, hypoplasia of the anterior corpus callosum, and microcephaly. In June of 2016, although he still has microcephaly, the result of his MRI was normal in structure. This was AMAZING NEWS! It was so surprising that I asked the nurse if she was looking at the correct test results. Maxwell is taking us on an incredible adventure, introducing us to people we never would have met if not for him, and showing us all that truly anything is possible.
Yesterday, Ed and I took the kids to the park. I watched my oldest run and play while I sat on the bench trying to feed Max. I got up and put Max in the baby swing. I held on to him so he wouldn’t fall forward. Gently, I ran up and back creating a modified swinging motion. I wondered if he was having fun. Then I heard it…silent little Max giggles which turned into GIANT belly laughs, and squeals! He leaned his head way back, stared at the sky and gave me the biggest smile.
All the worries and fears from the days before, faded away, and we were lost in pure joy.