Ryder's First 6 Months - Part 3

After Ryder's first visit with the Ophthalmologist, he was referred to the Blind-Low Vision Program (at 5 months old).  An absolutely amazing woman named Wendy comes to our house every other week.  She is an "Early Childhood Vision Consultant".  She brings toys and other aids to help develop Ryder's eyes and work with whatever vision he does have.  She is one of the most kind and compassionate people we have dealt with thus far.  She comes with us to eye appointments, knows what questions to ask the doctors, and explains in plain English what the doctor is saying.  She is wonderful!

Another specialist that comes to the house is a woman from the Infant-Parent Program.  She is responsible for tracking Ryder's development.  We had a fantastic visit in mid-September.  She was so pleased with Ryder's development that she even offered to discharge him from the program.  I politely declined, and asked her to continue monitoring Ryder as children with CblC (and other forms of MMA) can develop typically until the age of 2-3 years, and then their development starts to slow down and not keep up with other children of the same age.  I was concerned because he was not yet sitting up on his own, but she told me it was fine and that he wasn't expected to do that until he was 9 months old (he was 5 months at the time).  However, I was ecstatic that she was so impressed with Ryder, and I let myself believe he was going to be just fine.

The following week I took Ryder to the paediatrician.  She was pleased with his vision (tracking objects), but was concerned because he was not sitting up and because the back of his head is pretty flat (he sleeps….a lot!).  She referred him to an occupational therapist to deal with both the sitting and the flat head.  This appointment brought my level of excitement down a few notches, but I was still hanging on to the fact that things just might turn out ok.

We saw the metabolic doctor and dietician at the beginning of October when Ryder was 5 1/2 months old.  We talked about development and starting solids.  While the doctors were out of the room Ben and I had a brief conversation about any other concerns we might have.  I mentioned some weird movements Ryder had been doing where his head flopped down and his arms went up.  We decided it wasn't a big deal and didn't mention it when the doctors came back.  Ryder needs to eat a certain brand of baby cereal that has a low amount of protein.  If he has more than 1 serving per day, then anything beyond the first serving has to be a special medical baby cereal so that he doesn't get too much protein in one day.  We started the baby cereal when he was just over 6 months old and he LOVED it!  He was just like Ethan was when he started eating cereal…grunting for more and diving towards the spoon.

First time eating cereal!

About two weeks later on Halloween day, Wendy (the vision specialist) was at the house.  She noticed Ryder do a weird movement while he was lying on his back in his "special room."  (It is a box that he lays inside with toys hanging from above and mirrors on the side.  He can "talk" in there and the sound is contained so it is stimulating for his brain.  The toys are all over the place so he can practice looking from one toy to the next.)

Ryder's Special Room

Later that same day, I went for lunch with my mom and I mentioned the weird movements with the head dropping and arms going up.  She suggested looking in to possible seizures.  Obviously I googled it the second I got home.  It looked as though Ryder was having a type of seizure called "head drop seizures".  I called the paediatrician immediately and she told me to take him to emerg.  The doctors came in to evaluate him.  I wasn't aware but the paediatrician called the ER doctor and told them to keep Ryder over night and do an EEG immediately.  Obviously the message didn't get passed along to the doctor that actually saw him.  The ER doctor that saw him said that since he didn't have a fever and his development was on-track, he was being discharged.  They referred him to a neurologist for the following week and sent him home.

We went home and enjoyed the boys' first Halloween with (very rainy) trick-or-treating, which I'm really glad I didn't miss out on.

Cutest little Lion and Dino I've even seen!

What is Cobalamin C Deficiency?

In the first few weeks of Ryder's life, we spent hours upon hours researching his potential diagnosis, and even more hours hoping that somehow the newborn screening test had been wrong.

The metabolic doctor we first met with (and continue to see now) told us that it was most likely that Ryder had something called Cobalamin C Deficiency (also called: Methylmalonic acidemia with homocystinuria).  His diagnosis was based on two levels on his newborn screening that were extremely elevated. We had never even heard of either of these things but quickly learned a lot about them.   

• Methylmalonic acid: normal level is between 0 and 4.  Ryder's level at birth was 246. 

• Homocysteine: normal is less than 10.  Ryder's was 186.  

The main reason we had never heard of this condition is because there are only 300 people in the world affected by it.  Prior to 2006 (I believe…), methylmalonic acidemias (there are several sub-types) were not tested for on the newborn screening.  As a result of that, many children went undiagnosed until they had suffered a metabolic crisis which often resulted in permanent neurological damage and/or death.  (So obviously we are incredibly thankful for newborn screening!)

Without going into too much detail and boring science stuff, why Ryder has CblC:

• Ben and I are both (unaffected) carriers of a specific mutated gene.  Ryder received one defective copy of this gene from each of us, which caused him to be affected. (Ethan is unaffected, but has a 66% chance of being a carrier.  He will not be tested until he is 18 years old.)  
• Any future children we may have will have a 25% chance of being affected, 50% chance of being a carrier, and 25% of not carrying a copy of the gene.
• Essentially Ryder has a defect in this specific gene that causes his body to be unable to use vitamin B12 correctly (this is different than a traditional B12 deficiency).  

Below is a brief description from some of the information we were given by the metabolic doctor about how this condition "works":

• In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes then make changes to the amino acids so the body can use them. 
• Cobalamin C Deficiency occurs when one of these special enzymes is either missing or not working properly. 
• The job of these enzymes is to change vitamin B12 (also called cobalamin) into a form that the body can use. 
• Vitamin B12 is essential to your health and helps with neurological function, red blood cell production, and helps in DNA synthesis.  
• When the body is not able to use vitamin B12 correctly, it causes homocystine, methylmalonic acid and other harmful substances to build up in the blood. 
• Ryder will need a protein-restricted diet (no meat, eggs, dairy, etc.) to decrease the amount of methylmalonic acid and homocysteine that build up in his body.

For all of you visual learners, here is a diagram:

The not-so-nice potential symptoms of CblC include:

• poor appetite
• poor growth
• extreme sleepiness or lack of energy
• low muscle tone (floppy muscles and joints)
• seizures
• small head and brain size, called microcephaly
• water on the brain, called hydrocephalus
• other brain abnormalities
• delays in learning
• vision problems
• heart problems
• kidney problems
• skin rashes

This condition cannot be "cured" (i.e. Ryder will be affected by this condition for his entire life) and even with medication and treatment, the prognosis is still unknown.  We have only seen a few of these symptoms at this point, which is great, but I will get into that in another post.  
By far, it is the "unknowns" and the additional problems with Ryder's health that we may face in the future that are the most frightening, but we are learning to take life as it comes, and be thankful for all that we have.

We continue to be positive and optimistic about the future.  Ryder was diagnosed incredibly early on in his life compared to other cases we have read about in the scientific journals and articles.  We are hopeful that early detection will lead to a more positive outcome and that new treatments will be developed in the near future.

Pure and complete love for these two!
Photo credit: www.linsdaypalmer.ca

I know there is a reason we were chosen to be Ryder's parents
and a reason he was given to us.    

I truly believe that we are never given more than we can handle in life
(even though I sometimes have to remind myself of this more than once each day!)

For more information go to: http://www.newbornscreening.info/Parents/organicaciddisorders/MMA_HCU.html

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.

Ryder's First 6 Months - Part 1

This is something I have been meaning to do for quite awhile now.  I am hoping to use this blog as a way to keep family and friends that we don't get the chance to see often updated on how things are going.

I guess I should start at the beginning and go from there…

Ryder was a healthy "normal" baby when he was born.  We left the hospital when he was 2.5 days old and went home to begin our new life as a family of four.

On his 5th day of life, I had just arrived at an amazing friend's house to show off my beautiful little guy, when my cell phone rang and our lives seemingly changed forever.   The genetics department at McMaster Hospital called to ask a few questions about how Ryder was doing.  The answers to all of the questions seemed normal…yes, my pregnancy had been normal…no, he had not had any problems during labour/birth...yes, he had been sleeping appropriately for a newborn…no, I was not a vegan/vegetarian during my pregnancy…As the phone call went on I couldn't stop myself from sobbing.  The sweet and concerned way the poor woman on the other end of the phone was asking the questions told me something was really, really wrong.  At the end of the call she told me that they needed to see Ryder at the hospital right away.

We went to the hospital and were seen right away by a metabolic doctor, genetic counsellor, dietician, and social worker.  It was incredibly overwhelming.  They gave us a ton of information and told us that Ryder's newborn screening had tested positive for a very rare genetic condition but that we would have to wait 3 months to get the official results.  They sent us home with another appointment for the following day.

When we returned the next day, it was the same thing again…blood work, urine samples, tons of information, lots of doctors, and lots of waiting.  We waited for several hours to get approval from Health Canada to start Ryder on a special type of B12 injection that is not normally available in Canada.  When our tiny little Ryder was only 5 days old, we were shown how to give him his injections and sent home with warnings about what to watch out for…Was he sleeping "too much"?  Was he waking up to eat?  Spitting up "too much"? Not responding enough?  If any of these things were happening we were told he could be having a metabolic crisis that could cause irreversible damage to his brain and body, and would need to be brought to the ER.

While all of this was going on, we still had very few answers about what was going on with him.  Not once, did anyone tell us "Don't worry, he's going to be fine."  That was probably the worst part of all.  There was no talk of prognosis, and quite frankly I was too afraid to ask.  We also had Ethan at home who still needed lots of attention and love from his very overwhelmed parents.

That weekend we had friends over to celebrate Ryder's arrival (April 14) and Ethan's 2nd birthday (April 15).  We hadn't yet told anyone except our immediate family (and the friend whose house I was at when we got the call from the hospital).  Our amazing friends came over and admired what a good baby Ryder was. He just slept and slept and slept.  After everyone left I cried to Ben that our perfect baby was only sleeping so well because he was so sick.  I can't think of any words to describe that feeling other than heartbreaking and devastating.  We continued on for the next few weeks with lots of appointments, blood work, and daily injections of B12.  We slowly told our closest friends what was going on, and everyone was so supportive.   Ryder seemed to be doing everything he was supposed to and I was feeling positive once again!

Here is our sweet little Ryder at 11 days old:

Photo credit: www.lindseypalmer.ca