Shane, Ky and Kaden
We became parents for the first time in September of 1991. Our baby Shane was the cutest little boy at 6 lbs 12 oz! The doctors handed him to me and said “you have a healthy boy!” I looked him over and my first thought was how adorable he was. My second thought was “he’s NOT healthy”. To this day I don’t know why I thought that, but that thought stayed with me throughout his entire infancy. He was floppy. Tiny. He still felt like a newborn even at two and three months old. My friends’ babies looked and acted differently than he did. He cried constantly for the first two years of his life. I shared my fears with his doctor. “He’s fine,” one said. “You have new mom jitters” said another. “He has colic” was another comment. He was meeting all of his milestones just a little bit late. Not too far on the outside of what was considered normal for babies of his age, so doctors said he was fine and not to “compare him with other babies”. Yeah, sure!
When Shane was about one year old I began noticing brown spots appearing all over his body. Some were small, like a dime. Some were as big as his entire thigh. All of his fingertips were dark brown just before the nail and his tummy was several shades darker than the rest of his body. My husband is part Hispanic and part Native American. Maybe it's just coming out in his coloring?
He began getting sick. He’d run fevers of 104 to even 106. He was given a spinal tap twice due to his very high fevers but they’d come back clear. No one knew why he got so sick. At this point he’d also fallen off the growth chart for both weight and height. He was perfectly proportioned and didn’t appear to be a failure to thrive. He was just small. So, they said they’d keep an eye on it.
Finally at age three and a half, he was seen by an amazing doctor in Urgent Care for yet another fever. This doctor noticed his dark spots and was very interested in his medical history. He referred us to Dermatology.
The dermatologist we saw diagnosed Shane with Neurofibromatosis. He told us to make a second appointment in six months and don’t “look it up”. The first thing I did was look it up! It scared me to death. I called the doctor from Urgent Care who had referred us, and he brought us right in. He said he didn’t think it was NF. So, he sent us to be seen by Genetics. Finally, things began to happen! The Genetics doctor did a full work up on Shane who was now almost four. He wasn’t 100% sure, but he felt that Shane had a genetic condition called Noonan Syndrome. We read everything we could get our hands on to learn more. We joined a support group and began to meet other people whose children had Noonan Syndrome as well. Finally, things began to make sense! At that time, I had just had my second son, Ky. He was chubby, healthy and met all of his milestones early. It appeared that he didn’t have any of the same issues Shane had. Our focus was on getting Shane early intervention for speech and OT. He seemed very bright and knew all of his colors, letters and sounds and could count to 100 before he was four years old. We still had the worry that he may also carry the gene for NF, so we stayed in touch with the Neurofibromatosis community as well as Noonan Syndrome as sometimes the two conditions can go hand in hand.
When Ky was 15 months old I had my third baby and only daughter Danica. We were happy and feeling like we were getting a handle on this parenting thing! About six weeks after Danica was born Ky became very sick. He ran a high fever off and on for a few months. No other symptoms except for the fever and he began falling off the growth chart. Our doctor hospitalized him and he was tested for several diseases and disorders. His blood count was abnormal. He showed signs of a possible rheumatoid condition, and scariest of all, they thought he may have Neuroblastoma cancer. We completely freaked out! It was terrifying and we thought we were going to lose our little boy. After being ill for several months and just before our first oncology appointment he began to rebound. His blood tests began coming back normal. The fevers stopped and everything stabilized. It was a crazy situation but by the time he was two years old he was once again fine. At this point, our Genetics doctor began seeing Ky as well. By the time Ky was in kindergarten he was healthy and very smart. He was ahead academically and was doing great, besides being a bit small for his age. Shane, on the other hand, was losing ground academically. He struggled in all areas and had a full IEP by first grade. It went along with the Noonan Syndrome diagnosis. We felt that Ky was in the clear and seemed to be perfectly healthy.
As Shane continued through school he fell further and further behind. He tried harder than anyone I’ve ever met. We had tears at the table doing homework, yet he kept trying. Finally, we pulled him out of school and put him in a homeschool group where he could continue his education to the best of his ability, at his own pace and with less stress. He loved it! Meanwhile, Ky was a straight A student, cruising through school with no problems whatsoever except by this time he was quite a bit smaller in stature than his friends. He and his sister Danica went to the same school, shared the same group of friends and both of them were very involved in community theatre, even performing in a Broadway touring company professional production. We had our fourth (surprise) baby in 2003. Our last little boy, Kaden. Around the time Kaden was born, Shane was 12. Our Genetics doctor who had diagnosed him with Noonan syndrome said he was changing his diagnosis. Shane was “outgrowing” some of the symptoms (which doesn’t happen). At this point a blood test had finally come out for Noonan Syndrome. Shane tested negative. We were back to square one!
Little Kaden was growing very slowly. He was tiny! He struggled to feed and was diagnosed as failure to thrive. He was seen by Genetics as well. He had been born with several large skin tags on both sides of his face, and one of his ears was deformed by the largest skin tag during fetal development . Genetics thought he had Goldenhar Syndrome. We couldn’t understand how all our kids had these unrelated illnesses and genetic conditions. Somehow this had to all be related, but how?
At age 14, we began to notice Shane was dragging his right foot. He began tripping over it. He walked, running his hands along the walls for balance. As a little boy he surfed and played soccer. His preschool teacher had nicknamed him Speedy because he ran everywhere! Now as a teenager he was unable to walk normally and had developed a spastic gait. He also began having significant leg tremors.
During this same time Ky began developing large brown spots on his neck and Kaden had them on his legs. We were sent to do a full work up in Los Angeles. It was another dead end. No answers. No idea what our boys had. No idea why, if they all had the same thing, they each presented so differently.
When Shane turned 18 we gave up. He was sick to death of being poked and prodded. No one could give us answers. At that point, we decided that his quality of life was the most important thing. So, we stopped all testing. Shane got a job and was happy. Ky was doing great in school and was hoping to pursue a career in music. Danica volunteered at a private zoo and wanted to work with animals someday. Kaden was our little water baby who loved to surf! We were content even though we wished we could have answers, we assumed we’d never have them.
When Kaden hit 5th grade he began struggling in math. He was diagnosed with ADHD and put on medication (which he hated and begged us to take him off them). He also was, by far, our smallest child and was put on growth hormones. The summer before 6th grade his pediatrician mentioned that we might want to give Genetics one more try. Lots of new tests had come out over the past few years and we might actually find an answer for the different quirks our kids had. We, reluctantly, agreed to give it one more go. The Genetics doctor chose to do all of the testing on Shane. They did the full genetic diagnostic workup on him. If anything showed up, then they would test Kaden as well, and possibly Ky (even though Ky seemed fine in every way except the brown spots and being a bit shorter than average).
In the spring of 2017, the test came back, and we were shocked that there was an answer. A real answer! Shane had Cobalamin F Disease. What?? Like most people, we had never heard of it, and we had no clue what it meant for Shane or the rest of our family. It was so rare that the doctor asked if my husband and I were related (uh...NO). They tested the rest of the family and both Ky and Kaden also had CblF. (My daughter did not). The most shocking part of the diagnosis was that there was actually medication to treat this disease! It was hard to get help from the Genetics department.
So turned to Facebook! I found the MMA Facebook page, and suddenly things began to happen! This wonderful group of people put us in touch with Dr. Venditti at NIH. Dr. Vendetti’s team had us come out to Maryland and begin full blown testing. We learned about what the disease was. We found out that our kids had extremely high homocysteine levels, Ky’s levels were so high that they said he was at risk of having a stroke. It was at NIH that our kids finally began getting on B12 injections. We were put in touch with a great metabolic specialist here on the West Coast and have now been seeing him for the past four years. The boys (now young men) are healthy, and their homocysteine levels are in normal range.
Shane lost ALL of his brown hyperpigmentation! As he lived 25 years without treatment, he’s had the hardest road, however, he was able to find a job where he was very happy for several years through the ARC program. Sadly, that ended due to Covid. Happily, he’s now in an amazing program for adults who are learning to work in the film industry. He loves it and is set to graduate from the program this coming January.
Ky continues to be the least affected. He studied music and musical theatre in college. He’s been a performer and singer at theme parks and has taught voice and theatre classes. He hopes someday to move to New York to continue pursuing his dreams. His brown spots are also gone and he continues to be healthy and doing well!
Kaden is now going into 11th Grade. He’s had the most miraculous comeback! His health is excellent and has begun growing and is now the tallest of his brothers. He has an IEP but does extremely well in all his school classes and is hoping to study computers in college after high school. He has a great group of friends and was recently voted Prom Prince by his peers at the high school spring dance. He’s a strong and dedicated surfer (he’s been surfing since he was about three years old) and he’s also quite a good drummer and would like to eventually be a studio session drummer.
Writing this has reminded me of what a crazy ride it’s been trying to find a diagnosis! We honestly never thought we’d be here. It's hard sometimes to wonder what might have been had we only known all of this when they were babies. Especially for Shane, I sometimes feel very sad. I see what the treatment has done for Kaden and wonder if it would have done the same for Shane had he had it as a child. I’ll never know. I do know however, that I am a mom to three amazing young men (and one incredible young woman). We are actually very lucky!
Shared August 2021