Meet Nixon

Nixon

Our story goes right back to birth which makes it difficult to really attribute everything to the gene mutation or things he experienced along the way. I had a great pregnancy absolutely no issues.

He decided he wanted to come a week early. When he was born the cord was wrapped around his neck and it took what felt like forever for him to take his first breath.

He had a lot of vernix covering him making my midwives believe that he was possibly even earlier than we thought but at that point nothing could be done.

He was great, passed his neonatal newborn assessment after arriving.

Nixon is my 2nd son so I felt comfortable, breastfeeding was going well and I just wanted to bring him home so we only spent 1 night at the hospital and went home the next day.

Things were great he had quite a bit of jaundice but he seemed to be feeding well and I was under the impression that his bili level would be drawn by the midwives at home with the other neonatal bloodwork they did.

At first he seemed to be meeting milestones but at 6 months old he had lost/not gained enough weight and was deemed failure to thrive. We began seeing a local pediatrician and I began supplementing with formula between breastfeeding.

He was doing great and the pediatrician was happy with his progress. 

He began not reaching his milestones.

He didn't sit unassisted and steady until he was closer to a year he had hypotonia and would arch his head right back if you'd hold him up against your belly. This was always brushed off because of his low weight/low muscle tone. He was reaching milestones just a bit behind. His speech wasn't progressing but all I'd hear from the pediatrician is that he's not autistic. 

Every 6 month check-up that’s all I'd hear when I brought up my concerns. This doctor works at the hospital that I work at he was great knew I was a nurse would respond to emails almost immediately.

I had to take Nixon into the ER once because he was so lethargic was hard to arouse, hardly ate or drank slept all day well this pediatrician came in to see us. (Beside the point but it made me feel comfortable at first with him and trust his judgment). 

When Nixon was about 2.5 I had just had enough of hearing that he wasn't autistic I mean great but there was clearly something else going on. We were doing speech, PT and OT at this point and knowing he was so jaundiced for longer than usual I started looking into bilirubin encephalopathy thinking maybe this is what had happened.

His bili level was never checked so what if it was high enough it should have had some intervention.

I found a study written by 2 doctors at St. Michaels and sick kids hospital in Toronto which is only like 45 min. away from us. In the footnotes of the study I found the head drs email and thought what the heck I'm going reach out.

Well I kid you not this doctor emailed me back within 5 min. He told me it wasn't him I actually wanted to see but the other dr he wrote the study with. He gave me all his info and then I had to get a referral to see him. Sounds easy enough right.... well we had just changed family doctors because do I had to go into our new drs office whom hadn't even done our initial meet and ask him for a referral it could only go 1 of 2 ways.

Well thank God as soon as the words left my mouth his response was "sure not a problem!" I started crying right there! This is where our real journey began.

When this new pediatrician reached out and we met for the first time he was such a breath of fresh air hearing everything we had gone though in Nixon’s first 3 years he said to me "why haven't I seen you sooner?!"

He went over Nixon with a fine tooth comb noting EVERYTHING, every little "abnormality" that he has.

Right after we saw him we went for the 1st basic genetic blood-work he had put in a referral to a neurologist and a dentist at sick kids.

He also wanted a full body MRI originally wanted just the head to rule out bilirubin encephalopathy but Nixon has a sacral dimple and he wanted to ensure that it wasn't a tethered spinal cord.

Dental checked out no issues there.

Had the MRI and let me tell you even though I`ve seen it all the time and I know the process having it done on your own child is absolutely heart-breaking I bawled!

About 3 months after having the MRI which took at least 9 months to get we finally see the neurologist. Everything in his brain looked good no signs of bilirubin encephalopathy BUT Nixon has a syrinx which is a fluid filled cyst INSIDE his spinal column. There shouldn't be fluid inside the spinal column it only surrounds it. There is no indication as to why/when/where that came from.... the neurologist wanted him to have another MRI but with contrast and he also ordered neck x-rays to see if it’s a positional thing that’s allowing fluid in.

Second MRI date came up and apparently they didn't see that it was supposed to be with contrast so I had to fight with the techs saying it's supposed to be with contrast. Eventually they got a hold of the neurologist to confirm but I was so pissed off what if someone else didn't know to ensure it was going to be with contrast!!! Anyways it looked stable so we decided we'd do MRI's every 6 months alternating with contrast and without. It hasn't changed any so that’s a good thing and the x-rays looked good but because Nixon is still incontinent and a syrinx can cause incontinence we were referred to a urologist. He also added in an EEG.

While all this was going on Nixon would get reoccurring ear infections, started when he was 9 months and would come every 9 weeks like clock works he finally got a set of tubes which I prayed would help with his speech. I thought all that extra fluid was the reason he wasn't speaking much because he just couldn't hear properly, well that wasn't the case and it didn't really help much in terms of speech.

Because he wasn't speaking they couldn't test his hearing properly so the neurologist also sent a referral to the ENT at sick kids as well.

EEG came back ok, saw the urologist and she ordered an ultrasound. Ultrasound showed sediment so she wanted him to have a urodynamic test done WORSE TEST EVER!!!! 

Not only was it terrible itself but the sensors in the one catheter didn't work the 1st time so they had to place a second. AND there was a ton of miscommunication in regards to the results to make this long story short they believe he empties his bladder only until he feels comfortable but not always completely. 

They wanted him to start on Flomax thinking it should help with potty training but after 3 months it hadn't so I stopped giving it to him. We see urology yearly now with ultrasounds prior to his appt.

Finally, after about a year got into sick kids’ ENT they were able to do a "hearing" test on him and deemed him able to hear. That’s good.

At this point I kind of felt like we were at a standstill nothing making sense just little things were finding along the way. Our pediatrician linked us up with a developmental pediatrician in his office who did developmental assessments on Nixon and deemed him to be cognitively at about half of his age. He tried to refer us to genetics at sick kids to basically refused and sent us to someone who was "closer to us" we waited well over a year to finally see a geneticist Nixon had a PTEN do which I sat on pins and needles waiting for the results on which thankfully came back negative. This was just yet another check mark on a list that we had to show our government that was done so that they would approve our request for a whole exome sequencing test which is a send out from Canada to the united states and if paid out of pocket here would have been about $5000 usd which would be more like $7000 cad. Needless to say quite a bit of money so we really needed this to be covered.

We all had our blood-work done and our geneticist told me they'd hold on to our blood until the testing is approved by our government which good knows how long it could have taken. I thought I'd hear back once it was approved so expected it to be quite a long time.

Well to my surprise I received a phone call the same day I found this group with the results of his testing that showed a mutation in his TRIO gene which is completely de novo.

I began researching and looking for studies. Nixon doesn't have what seems to be a typical physical presentation. He actual doesn't have ANY of the "typical" characteristics. His head circumference is actually in the 97th percentile. His fingers and toes are typical. He does however have tunnel chest which I did read in a study that another child had and he has an insensitivity to pain which is another thing I had read in a study.

Nixon actually just turned 6 this past Sunday. He is so caring and loving. He has an intellectual disability; he does have words but doesn't form sentences. He has an iPad which has the LAMP app on it to help him at school and at home when needed. His gait is off and there is something not quite typical about his hips and how he can move. Just today he was referred to a gait clinic in Toronto so that will be interesting.

I've always pushed and tried to understand why everyone including our developmental pediatrician told me he wasn't autistic because he has and always have had so many "red flags" but they just kept telling me because of how personable he is and that he makes eye contact and engages with people that he wasn't.

Well after speaking with the developmental pediatrician for the 1st time after getting the genetic testing results I'm beyond happy to say we now FINALLY have an autism diagnosis! He says it's low (between level 1 and 2) but nonetheless it's now on paper which will open so many therapy doors for him which I'm so thankful for!