Max

MMA, Cbl C

Just four years ago, almost to the day, we were sitting in a neurologist office at the Children’s Hospital in Denver, CO, hearing him say our son was having seizures, quite a lot of seizures to be exact, and they were specifically called infantile spasms. We needed to have a metabolic panel run on him just to make sure we don’t miss anything.

My head was spinning. I knew something was wrong. I just knew it! I don’t remember the rest of that meeting. I was half-listening through a veil of tears. I couldn’t turn them off, and I didn’t care to. I had been trying for 4 months to get someone to listen to me when I said there was something different about him, that I thought he wasn’t healthy. But the doctors up to that point had all chalked it up to inexperience as a mother, and acid reflux on Max’s part.

He had lost weight; we couldn’t get him to eat, even though we were feeding him every hour around the clock. And when he did eat he would quickly vomit it back up. The metabolic panel came back, and I received a phone call from Max’s pediatrician. She told me they found high levels of homocysteine in his urine, so the metabolic doctors ordered more tests on the blood they took. She then told me it was a very rare disorder, and until we knew anything concrete I shouldn’t get myself worked up by looking things up online about it.

So I hung up the phone and googled it right away.

I didn’t get worked up, or scared, it just looked right. This was it! This was what Max had; he matched the explanation almost exactly. We were soon brought in for a follow up MRI and over-night EEG testing for the seizures. At that time we were introduced to the metabolic team at Children’s in Denver.

They asked so many questions, was my pregnancy normal, was I a vegetarian, were Steve and I cousins? Again, my head started spinning. Just two days ago we had no answers, and now, we had a list of new words associated with our son. That evening they took a skin biopsy and explained to us that they are almost certain Max has Homocystinuria and Methylmalonic Acidemia, also known as Cobalamin C Deficiency, his body doesn’t know how to process vitamin b12. They told us they would start treatment right away, because his levels were quite high.

We were sent home on a medication for the seizures, after having them explained to us as well. In the two days we were in monitoring, Max had 200 seizures. They were starting in the same place, so he was a good candidate for surgery once his metabolic levels were stabile. Once we got home I remember lying in our bed holding Max, wondering how in the world our life was going to look. Such a different outlook than just a couple of weeks prior. We were at the beach in California, planning to take Max all over the world. We loved to travel, and wanted to share those same experiences with him.

The day after we arrived home from the testing, Max became very lethargic. He would not eat, and was breathing very shallowly. I told Steve we needed to go to Emergency Department right away, something wasn’t right. We got to Children’s and then ran him back to the triage room. Before I knew it, a couple of nurses were guiding us out of the room and five others came running in. I truly thought my son was dying. I had no idea what was happening.

They let us back in after what seemed like a lifetime. We saw that they had put a tube in to help him breathe. They told us he was fine, they had to give him medicine to make him sleepy. And they moved us up to the PICU. That’s where we stayed for the next 30 days. In those days, we met with doctors, and students, and nurses, and pharmacists, and social workers. They ran test after test on Max. He was put under with medication to try to keep the seizures from continuing, to try to get the levels down. All the tests came back that his organs looked healthy, and there was no sign of stroke, it seemed that his brain was what was most affected.

Once we started treatment of the Hydroxycobalamin, his levels started to drop drastically. Within two weeks we were ready to remove the seizure focus with surgery. They were intrigued by Max, because neither the metabolics teams, nor our neurologist had ever seen a case like his. Usually, they told us, seizures were more generalized on metabolic disorders, but in Max, they think the metabolic disorder actually was the cause of the brain malformation, and was focalized into one spot on his left frontal lobe. When they did testing on that area to see what function it was affecting, they found no function there, only that it was firing off seizures.

He underwent surgery, and within another couple of weeks we were released. We had learned so much in the month. We learned about his condition, and medications, and how to administer the injections he would need everyday for the rest of his life. We also learned that my husband was about to lose his job if he didn’t move to California to a new position. That was when the real work began.

A week after we got home, Steve packed up a couple of boxes and moved to California, with the idea we would follow once our house sold. Eight months on, and weekly visits to Children’s for follow-ups, he told his work he had to come back home to us. That’s when they allowed him to work from home in Colorado.

A week after he got home, Max ended up in the PICU once again. This time with double pneumonia. We know now, it was a very bad reaction to the flu shot that triggered it, followed by way too many fluids being administered. Nonetheless, we were in the PICU for a month again. This time he was truly fighting for his life, intubated the whole time. We were set to have surgery to give him a tracheotomy tube. I truly felt like it was the end of our lives. We would have to have 24 hour nursing in our home. That was a 6 month wait, so he would be living up at the hospital until we could secure that. I remember sitting up at the hospital on Thanksgiving that year, feeling absolutely helpless. So many dreams crushed. I knew one thing for sure; I loved my son more than anything, and wanted him to have the best quality of life he could on the amount of time he was with us.

We agreed to the tracheotomy after many questions and prayer, because honestly we felt we had no other choice. The morning he was set to have the surgery he was having an incredible coughing fit. The nurse came in to suction him, and before we knew it, he had coughed the tube right out! That morning a new set of doctors had rounded on for the new month. They thought he looked good, and wanted to watch his breathing the rest of the day. They told me to look at it as one more day of freedom. I held him the whole day. His carbon monoxide levels went down and before we knew it, he was breathing on very low levels of blow by oxygen. The surgeon came in and signed off on him, stated that a child who could cough a trach tube out didn’t need a tracheotomy.

From that time on, it has been nothing but strengthening and developing for Max. He has been in OT, PT, and Speech, always exceeding the goals they set before him. He has learned to roll over, and push himself up on his arms. He can hold his head up for long periods of time. He lives for Elmo, and loves his Opera music!

The past year in particular, we have worked on his speaking. Each new sound, trying to form a word is like music to my ears. I remember that Thanksgiving in the PICU thinking I would never hear his voice. He has started using a Fl4sh adaptive speaking device that is switch operated. Within the first week of getting it, we quickly found out he was past its capabilities. I still feel a bit awful to say, I had no idea he had so much cognitive ability. I feel sorry that I didn’t know for three years that my child knew almost everything that was going on around him. Today he uses complete communication, by a few signs, some speaking, and using his switch to activate his Fl4sh, or our voices to give him choices.

Last month we were grateful to be accepted into the MMA study at the NIH with Dr. Venditti. It was such an amazing experience. They explained a lot to us about Max and his metabolic make-up. They all seemed genuinely interested in Max and our story. Something that was much appreciated. While visiting there were learned that Max’s eyes are pretty healthy despite the Cbl-C. Also that he is far-sighted, and will need glasses. We also got a lot of new ideas from the different therapists we saw. We look forward to going back and seeing them in the next year or so!

He is growing up, much too quickly, as I’m sure most mothers feel about their little boys. He has such strong preferences, and opinions. In the next year we hope to continue to work on his speech, with adaptive communication, and by using his voice. He will continue with therapy, and we’re hoping to step that up this year so he is pushed a bit beyond what he’s comfortable with. School is in the horizon too, something I have to admit I am nervous about. We’ll get his glasses, and see if we can’t get him to sit up on his own. We have a lot of expectations for Max. Some may say they are unrealistic, but for us it is just reaching for the highest possibilities.

In one conference doctors before we had to go into surgery, one of the doctors in the PICU asked us what kind of life we expected Max might have. They had seen him fail over and over to get off of the vent, and I think they were trying to see if we had grasped the gravity of that. When the doctor asked us, my husband said without a beat, “We expect Max will run marathons.” All of the doctors looked a bit confused at that. Steve quickly backed it up by saying, “If we don’t expect Max will do things we can’t imagine, he never will. We will give our son every opportunity to succeed in his life.”
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Here’s to a year of running marathons, figuratively and literally for our kids.

Here are the specifics on Max’s treatment.

Max is on daily hydroxycobalamin injections (2.5 ml subcutaneous) 
Cystadane 1000 mg orally three times daily
Choline Chloride 650mg orally three times daily
Folinic Acid (Leucoverin Calcium) 5 mg orally twice daily
Carnitine 330 mg orally 2 in the morning, 2 in the afternoon
Vigabatrin for the infantile spasms
He is on Pediasure fiber, and does not have a real strict protein diet. I think mainly because he mostly takes his formula, with rice cereal and mashed fruits.

I am always happy to speak with other families who have children with MMA Cobalamin C.
  
Steve or Deana
From the Spring 2008 OAA Newsletter