Shane, Kaden and Kyler

Cobalamin F

Photo: From Left to Right – Shane, Danica (unaffected), Kaden and Kyler

In 1991 my husband and I were so excited to find out we were going to be parents! Almost from the beginning though, things always seemed just a little bit off. During my pregnancy the baby rarely moved, yet I always had good checkups with the doctor. I had a bad feeling that I couldn’t shake through the entire pregnancy, yet everything seemed fine on the ultrasounds and all my prenatal tests came back normal. I must have just been an extra nervous ‘mom to be’.
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When our son Shane was born, he was long (nearly 22 inches) and 6 pounds 12 ounces. He looked really skinny, but other than that seemed perfect! All my worries disappeared, at least, for a short time. Shortly after birth little things started to show up; nothing major, just little differences. My best friend had a baby three weeks after I did. I remember her little boy, at the age of two months, already looking like a fat, happy baby. Shane still seemed like a newborn. He was floppy still, and wasn’t growing as quickly. I mentioned it to the doctor and he told me to stop comparing my child with someone else’s, all babies were different. Maybe he was right, I needed to relax. As Shane grew, it got harder and harder to not worry. He cried all day, every day. The doctor told us he had colic. “Just wait until he’s six months or so, he’ll grow out of it”. So, we waited. By the time he was one year old he hadn’t grown out of it. On top of that there were new things to worry about. He was behind in everything he did. Sitting up, rolling over, walking, and talking. Not way behind, just….late. The doctor said “Give him time. Everyone does things at their own pace.” Ok, so we waited. He was tiny. He had fallen off the growth charts. The doctors told us not to worry. He’d catch up. Just give him time. So, we waited. He began to get sick a lot. He would run very high fevers every time he’d get a cold or an ear infection. The doctors told us he’d outgrow the fevers. So, we waited. At about the age of two he developed strange discolorations on his skin. His fingertips were dark brown, as well as his stomach. He had a large dark brown spot on his inner thigh, one on his inner arm, and his feet were dark brown near the toes. These spots were just birth marks. “Nothing to worry about. As he gets older they would probably fade”. So, we waited. All through this time I couldn’t shake the feeling that something was wrong. None of my friends’ babies seemed to have all these little oddities. I knew I shouldn’t compare. I’d been told that by every doctor we’d seen. I really tried not to, but as everyone else’s babies were talking and running, mine still only said simple words and walked using his hands to hold onto walls to steady himself. Still, he wasn’t way behind, just enough to make me worry constantly.

Somehow he made it to age three. He was no longer crying all day, and he was talking and finally starting to run! Maybe he really was ok after all! In the meantime, we’d been able to give him a little brother, Kyler. Kyler was a fat, happy baby who didn’t seem to have all the little oddities that Shane had had. Things were going good! Then Shane got an ear infection. On Halloween night we took him into Urgent Care to have it checked. He was wearing his little lion Halloween costume! He looked so cute, but so miserable. The doctor on call at Urgent Care was kind and caring. After confirming the ear infection, he asked me about Shane’s skin spots. I told him what we had been told in the past about them. He referred us to Dermatology just to have them looked at. What a relief! Maybe I wasn’t crazy and someone was going to tell us what those spots were! The dermatologist we saw was very businesslike and not super talkative. After looking at Shane’s spots, he said “Shane has something called Neurofibromatosis. Don’t look it up. It will only worry you. I’ll check him again in 6 months.” I went home and promptly looked it up. It terrified me. I called the kind doctor we had seen in Urgent Care. He brought us right in and looked at Shane’s spots. He reassured me that they did not look to him like Neurofibromatosis, but they were unusual. He also noticed that Shane’s ears were a little low set, he had fallen off the growth charts, and he was a bit behind in his development. With all these little differences, he thought it would be best to be seen by Genetics.

Now our journey was truly beginning! At age three and a half, Shane had his first genetics’ appointment. The doctor was amazing. He diagnosed Shane with Noonan’s Syndrome, although Shane didn’t truly have all the features and some of his features that he had weren’t consistent with NS. It was the closest diagnosis they could think of. At that time there was no genetic test for it, but the doctor said it was coming. At some point they’d be able to test him for it. So, once again, we waited.

In the meantime our fat, happy Kyler had developed a strange lacy pattern around his neck. I kept thinking it was dirt caught up in his little neck folds, but I couldn’t clean it off. Then I began to notice brown spots on his arm, leg and more under his arm pits. He began to run extremely high fevers. He was even hospitalized for a fever of an unknown origin for over a week. His blood tests were coming back and they were seeing strange findings that they hadn’t seen before. They ruled out Cancer and Rheumatoid Arthritis. They ruled out Cat Scratch Fever and Asthma. No one could tell me what was wrong with Kyler. He didn’t seem to have the same features that Shane did, so they didn’t think he had Noonan’s Syndrome. He began to get better on his own, although he still, on occasion, would run extremely high fevers for a week or so at a time. He also began to slim down and eventually fell off the growth charts. Something was wrong with both my boys, but each seemed very different. Kyler hit all his milestones on time. He soared through kindergarten and first grade at the top of his class, while Shane had to repeat first grade and was given an I.E.P. Doctors thought maybe each boy had a different genetic condition, but my husband and I weren’t found to have any genetic concerns. How could both my babies have two different genetic diseases just by chance? The doctors at this point said they still didn’t know enough yet to give us definite answers. Someday they would. So, again, we waited.

During that time we had a little girl named Danica. She had none of the medical issues the boys had. As the kids grew, we saw Shane fall further and further behind. He was barely making it through school despite having an I.E.P. and all the services we could get him. While he wasn’t running high fevers anymore, he would develop horrible mouth sores, and almost constant ear infections. He had to have several ear surgeries and eventually lost a major portion of his hearing in his left ear. At age 12, the long awaited blood tests that could diagnose Noonan’s Syndrome were available. Unbelievably, Shane tested negative. He did NOT have Noonan’s Syndrome. We were back at square one.

By age 14 he began having trouble walking. He’d trip a lot and began holding his arms out for balance. On top of that he had developed leg tremors. On to the Neurologist and many more tests. No one could find out why Shane was losing his ability to walk normally. He also seemed to be falling even further behind in school and we were told he would not graduate high school. He was referred to TRACE, a program in our area for young adults who have mild to moderate disabilities. TRACE would teach him skills to help him through life.

However, Kyler, despite a major health scare at age 11, (a ruptured appendix that kept him hospitalized for a week and a half), was flying though life. He excelled in school and was very involved in musical theatre, along with his sister Danica.
We were making our way through life and enjoying our awesome (yet sometimes unusual) kids, when we had our surprise baby, Kaden! What a shock little Kaden was, but he was a happy go lucky, mischievous little person and we were thrilled to have a baby in our house with all of our big kids!

Our biggest concern was Shane. He was such a kind and wonderful young man. It seemed so unfair that life was so hard for him and yet we had no answers. I was so involved with Shane’s issues that I hadn’t noticed (or, at least, hadn’t wanted to notice) that Baby Kaden was having problems of his own. He was born at a normal weight but after birth couldn’t seem to gain weight easily. We had trouble feeding him, and he was referred to neonatology although he was a full term baby. He slipped off the growth charts and doctors were concerned with his small size and feeding troubles. Like Shane had, he was developing slightly behind normal.

However he was an extremely happy baby who was very laid back (and in a family with three much older siblings, that was a good thing!). One morning when he was three, I was getting him out of the bath tub and my heart stopped momentarily. While drying him off I noticed several of those same suspicious brown spots had begun developing on his little tummy. He began running extremely high fevers, and he would have febrile seizures. He developed mouth sores like Shane had always had. His skin was spotty like Shane and Kyler’s skin. As he grew older, he too, began having trouble in school, and eventually was diagnosed with ADHD and learning disabilities.

It was happening again. We took Kaden to Genetics, but sadly our much loved geneticist was leaving our HMO, so they sent us to a new one. This began more years of doctor’s appointments and genetics counselors but still no answers. There was more poking, prodding, research, questions, yet we still had no answers.

Kyler began having problems of his own. He went from being a straight A student to barely passing classes in high school. We thought he was being lazy, but was there more to it than that? No one knew.

At age 23, Shane had a job working at a hospital cafeteria (Where he continues to work today). He loved the job and was very happy with his life but he was tired of being researched. He asked us to take a break. After much discussion, we agreed. We assumed it was something no one would ever find out. It seemed there was no treatment anyways. Kyler and Danica were both in college and doing well. We were dealing with Kaden’s ADD, school difficulties and small stature. Maybe it was time to stop waiting for Science to give us an answer and start enjoying life. So that’s what we did, for a while.

In June of 2016 I took Kaden into his pediatrician. I mentioned his struggles that year in academics at school. He also seemed weak and lacked muscle tone. Our pediatrician felt it was time to begin again with genetics (No, not again!!). He assured me that there were new diagnostic tests available, and maybe this would be the time when we’d actually get answers. Therefore, back on the roller coaster we went again. Well, why not?

So we went back to genetics. They decided since Shane was the one who appeared to be most severely affected, they would test him, using all the genetic tests available. Shane was tested in August 2016, and we went on with our lives. After all these years I didn’t expect them to find anything. In October we received an unexpected phone call from the doctor. Shane had been diagnosed with a rare disease called Cobalamin F Disease. My heart was pounding. I couldn’t believe we finally had our answer! Kyler and Kaden were also tested and we received confirmation in February, 2017, that they also had Cobalamin F. Finally, after 25 years of waiting, our answers had come!

The Cobalamin F diagnosis put us on a new roller-coaster. However, this has been a more positive ride! In April, 2017, Our boys were given the opportunity to be seen by National Institute of Health in Bethesda Maryland. This has been an incredible time of learning about my boys’ health. It’s also been an amazing experience being part of research that will one day help other patients. The best part has been finding out that there is medication that will actually treat my boys, eliminate some of their symptoms, and help them to stay healthy. Shane, Kyler and Kaden all are now receiving daily Hydroxicobalamin injections. Their Homocysteine levels have gone from dangerously high to nearly normal! Their strange brown spots on their bodies are fading. Our family now has hope and we are all excited as we can now look towards the future!

Tammi
San Diego

From the Summer 2017 OAA Newsletter