faces_eilaDecember 1st 2014 – I will remember this day forever, the day we finally received our diagnosis.  Eila is our first born, she came just 15 min. shy of her due date at home as planned, on a very hot August 21st night, complete with thunderstorms and heat lightning in 2003.  I had no pregnancy concerns, I could feel her move, she had lots of hiccups!  She arrived safely, a beautiful home birth experience, Apgar good, and then feeding the next few days…ugh.  A good latch at the breast took about 7+ days, I was one determined mama, together we would learn this and master it, and we did with lots of support and encouragement from our midwives (and lots of frustrated tears and stress from mama).  I breast fed till she was 15 months.  We continued our midwife follow-ups those first 6 weeks till care transferred to our family doctor, and looking back the things that stood out about Eila – small head circumference, no first smiles, difficulty with feeding, colic, oh my she would cry, and cry, and cry some more.  Now we know this is a common characteristic of our Fox babies.  My husband worked shift work, including nights, I sometimes wonder how I made it through 🙂 While attending a babies group hosted by the local health unit, for first time moms and their infants, was when I first became concerned about her development.  My husband and I started a “I am concerned list”, which included things like crossed eyes, holds her breath when we go outside, does not track objects, does not reach for objects, she cries ALOT.  Our family doctor said they were valid concerns and some red flags and she would refer us to a paediatrician.  We waited a few more months till that visit, and our list grew. Unfortunately our visit to that paed was not a pleasant experience, they basically told me I was a first time parent and to relax, let’s just wait and see.  I was an angry mama bear then!  Our family doctor ordered and EEG, no seizure activity detected, ok good.  I got on the web and started making connections with other parents in chat groups, one mother called her paediatrician for me and got me an  appointment. The new paed referred us to McMaster Children’s Hospital, to meet with a neuro muscular specialist, genetics, neurology, ophthalmology, and ordered more tests. She was tested for RETTS 4 times!  And mosaicism, she had so many markers they couldn’t believe it kept coming back negative (now we know why, they just hadn’t discovered FOXG1 yet) the rest is a real blur, we had test after test showing nothing as far as a diagnosis. We started using melatonin to help with sleep issues and saw an allergist and ENT in regards to her constant congestion.  Her MRI showed atrophy and decreased amounts of myelin. Referals were made to early intervention and we started being followed for OT/PT, speech, vision.  She was classified as having global developmental delays of an unknown cause, microcephaly, and cortical visual impairment.  I went back to work and muddled my way through apt after apt.  We continued being seen annually by our medical team and having blood work, muscle biopsy, etc. complete, still coming back negative for things they were testing for. As Eila was turning five we decided it was time to expand our family, fear or not we wanted more kids and our doctors told us chances are slim this will happen again, ok then…and we got pregnant with twins!  Not just any twins, monochorionic diamniotic twins, of course high risk, sharing one placenta.  So on top of Eila’s crazy appointment schedule I added in my own pregnancy appointment schedules to be closely monitored by the high risk clinic.  During this time we were testing Eila for reflux – came back inconclusive, but I knew she had it. (We finally convinced our neuro to put her on an anti -reflux med at the age of 9, it has helped tremendously)  As well as sleep apnea, again inconclusive (She still snorts and grunts while she sleeps)  The twins pregnancy and birth have their own story entirely, but they are here, now 6 and typical, happy and healthy 🙂  We made the decision with the arrival of the twins to move back to eastern Ontario and have the support of our parents and family in raising this crazy brood.  Eila’s medical team transferred to CHEO, and CDC in Kingston. Answering all the same questions again to bring them up to speed on our mystery girl.  And she started Kindergarten, and we added in some more weekly visits to follow up and get them all up to speed on this mystery girl 🙂  The transition of 2 new babies, moving and starting school was rough on her, lots of tears in the evening, heck it was a hard transition for me and I could express myself!  And lots of exposure to germs, (she is targeted by all the little people, they touch her and her things constantly) being a healthy kid overall, we battle a lot of colds, they take her longer to get over than most typical kids.  Eila is very much a creature of routine, take her out of it and she does not cope well.  Being nonverbal – we watch for her cues and facial expressions to let us know if something is too much and to remove her from it.  Her favourite place is definitely her room, in bed, with music playing…music will always help the sadness.  Meals and fluids are always a concern, being mom I do both best but I cannot realistically be with her 24 hours a day so we continue to struggle with appropriate fluid intake while she is at school all day and we recently made the choice to have a gtube inserted, this will also help when she is upset and will not take her meals, and free up some time in our schedules I hope.  She will continue to eat breakfast and dinner with us orally. We have been very lucky to not have any real medical issues with Eila over the years, so I find this year 2015 to be hard on us with a hip surgery as well as the g-tube and investigations as to why she is suffering UTI’s and has a dilated left kidney.  I think as she is getting older new medical issues may continue to appear and need to be investigated. But, we are so happy to have a diagnosis and a community to be a part of, and share with, and we look forward to educating our medical professionals now on everything FOXG1!