Ryder's First 6 Months - Part 2

We continued along with lots and lots of appointments.  Based on his bloodwork results, the doctors were quite certain he had Cobalamin C Deficiency (also called Methylmalonic Acidemia with Homocystinuria). 

Ryder was started on a new medication called Betaine to help lower one of the levels that was elevated on his bloodwork.  He absolutely hated the medication.  I tried it, it was horrible.  We dealt with his screaming, tears, and choking to try and get the med into him for several weeks, it was awful.  I had been doing a lot of research and speaking with other parents of children with the same condition…thanks Facebook!  It was a result of speaking with other parents about how horrible the medication was, that we realized Ryder was on a different form than the other kids.  I started to panic…did more research…and figured out the pharmacy had given Ryder a form of the medication that has extra acid added to it and is used to treat gallstones.  It was the acid that was creating the horrible taste.  More panicking, and frantic calls to the doctor (who didn't call me back for 7 hours) and the pharmacist (who told me she was "too busy to deal with this"…and then didn't call back for 4 hours).  I think this was the first time my inner "mama bear" really came out!  I kept calling every 15 minutes all day.  It was maybe (slightly) insane to react this way but I really thought we had been hurting Ryder by giving him this other medication.  When we finally heard back the pharmacist was VERY careful on how she worded everything…she blamed the metabolic doctor, but ensured me that we had not been harming Ryder by giving him this other medication.  The added acid was not harmful, it just made it taste bad.  When the doctor finally called back, he blamed the pharmacy because they had switched to this other formula without telling anyone.  So anyway, a few days later, we got the new medication, and Ryder was MUCH happier to take it, and did so without any screaming and tears.  He also began taking a special medical formula to help reduce his protein in-take.

When Ryder was 6 weeks old, he was hospitalized.  He had been throwing up quite a bit, and we were concerned with him having a metabolic crisis.  A metabolic crisis means that high levels of toxic substances (MMA) build up in his body.  This happens when he doesn't take in enough food (can be caused by fasting or illness) and his body starts breaking down stored protein.  Since we were still so "new" at dealing with all of this, I panicked (again).  Metabolic crisis can cause breathing problems, seizures, coma, and sometimes death.  So off to the ER we went where Ryder was admitted for 2 1/2 days to get IV fluids and antibiotics.  Luckily for us, his metabolic levels stayed good, but he did have a virus so they treated him for that and kept a close eye on him.

While Ryder was in the hospital, our metabolic doctor set us up with an amazing paediatrician.  She knew absolutely nothing about his condition (like all of the specialists we have been seeing) when we first saw her, but has since done a ton of research and been an amazing advocate for Ryder.  At his first paediatrician appointment when he was 3 months old, she noticed he was not tracking objects very well, his eyes were doing a weird back and forth "shifting" movement almost all the time, and he was not smiling.  She referred us to an ophthalmologist and a special program to monitor the development of children with potential disabilities.  The ophthalmologist appointment was scheduled for 2 1/2 months later…again, I lost it, thinking that was far too long to wait.  I called all of the doctors we were seeing and begged them to get it moved up sooner as I was concerned because we had noticed his eyes "shifting" back and forth more and more often.  They all told me that we would just have to wait, and that was how long it took to get an appointment.  The next time we saw the paediatrician (when Ryder was 4 1/2 months old) she commented on the eye "shifting."  I was shocked.  How had she not noticed that before? I had been under the impression that was the reason we had been referred in the first place.  I got a call that afternoon to tell me his eye appointment needed to be rescheduled for the next day.  I really didn't understand why all of a sudden it was an emergency when his eyes had been doing the same thing for 2 months.  We went for the ophthalmologist appointment and he was diagnosed as having nystagmus.

I've gotten ahead of myself a bit.  We finally got Ryder's "official" diagnosis at the end of July when he was 3 1/2 months old.  They had taken a skin sample from his shoulder at one of our first appointments when he was only 1 week old.  The skin sample was sent to a special lab in Montreal where it was grown for 3 months until it could be DNA tested to confirm the exact gene mutation responsible for his condition.  We were told Ryder had Cobalamin C Deficiency.  This was the news we had been expecting, but at the same time it was a complete shock.  A few times, it had been suggested that he could have a different (and way less serious) condition, and I had been secretly holding on to this idea.  So to hear that he officially had CblC felt almost as devastating as that first appointment we had.  But we quickly moved on from the sadness about it being "official", and focused our energy on doing everything we can for Ryder to ensure he has the best life possible.

Click here to read the post about Ryder's super rare condition.

So, aside from all of the medical stuff, I think it's important to share some positive stuff about Ryder, because he is so much more than all of that.  He is honestly one of the most calm and laid back babies I have ever met.  Our close friends and people who see him on a regular basis all comment on it, and most have never even heard him cry for more than a few second.  He is a smiley, SUPER chatty, content little guy.  He is loved dearly by his big brother who tells us what Ryder wants and needs (those wants and needs often correlate with what Ethan wants and needs at that moment, but nonetheless…).  He started smiling a little bit late, but that has been attributed to his eyes developing a bit slower than average, and now he smiles for just about anyone.  He loves to touch Ben's beard and always saves his biggest smiles and adorable giggles for Daddy.