There are some hiccups early on that, in retrospect, were signs of the start of our journey. When TT was two month old, the pediatrician noted positional plageocephaly and torticolis. It was at this time that he began being followed by an orthotist and weekly PT. At six months the PT began using the words hypotonic and low tone to describe TT's muscles. At his six month well visit it was found he had only gained 4 ounces since his four month well visit. Up until that point he was exclusively breast fed. I immediately switch to bottle feeding (which was part of my plan anyway) and saw how little he was actually eating. After a couple weekly weight checks the pediatrician labeled TT failure to thrive (FTT), ran some preliminary blood work, and told us to schedule with GI and genetics.
After our initial appointment with GI at around 7 months we began fortifying formula and tracking TT's weight closely at home. At 9 months he got a cold and wasn't eating. I phoned GI to let them know he had only taken 7 oz in a 24 hour period and they said they had a bed ready and to come down to the hospital (Children's Hospital of Pittsburgh) for admittence. It was during this 10 day admission that TT received his first feeding tube and saw a whole slew of doctors. A genetics team saw him and was certain something was amiss. They ran a microarray (which turned nothing up) and asked us to follow up. TT also began seeing a feeding team at this time and it was determined that due to his hypotonia he had an uncoordinated swallow and was silently aspirating, which attributed to his low intake/weight gain. Our next steps were to get him started with Early Intervention (nutrition, PT, OT). I joined a few medical groups on Facebook which helped guide me through the ins and outs of which doctors to see and questions to ask, as well as how to cope with daily life with hypotonia and a feeding tube. When TT was 13 months old it was time to take the plunge and switch his NJ tube to a gtube. At 14 months old we sent out for Whole Exome Sequencing. At 16 months old I self referred to Neuro (thanks for a recommendation for a Facebook mom!), who ordered an MRI and found that there were brain abnormalities which explained the hypotonia. The doctor explained that had we not had a WES test pending he would have sent out for a specific panel due to these abnormalities. This was when a whole new level of panic set in: structurally TT's brain is different and this wouldn't be something we could wish away or cross our fingers that he would grow out of. At 19 months old TT's genetic results came back: letter change on the 190th letter of the RAC1 gene. There has been only one paper written on it, documenting 7 patients in the world. All "RAC1 Related Disorder" patients have hypotonia, brain abnormalities, and Intellectual Disability in common as well as a spectrum of other conditions.
We have come across so many fantastic doctors, clinicians, and parents during this journey. We have also jumped over the hurdles of dead ends and unconcerned doctors. The trip to a diagnosis was exhausting. We saw 8 different specialty clinics before a diagnosis just trying to rule things out. Our pediatricians at the time were of little help or support, so I coordinated this all in my own--researching who may be able to help and self referring to those people. My very best advice is to avoid a "no news is good news" mentality. If you thing something is amiss you are probably right. Leave no stone unturned when it comes to advocating for your child.
Below is a timeline of TT Bear’s observed symptoms, diagnosed conditions, and treatments and therapies.
Signs & Symptoms
Treatments & Therapies