Patient Stories

Nolan's M-CM Story

John Nolan Jorgensen (Nolan) was born on September 23, 2011 in Trenton, NJ. He was born via regular delivery at 37 weeks gestation following an uncomplicated pregnancy, weighed 7lbs 12oz, and measured 20.5 inches long. There were no evident issues at birth and APGAR scores were normal.

Before we left the hospital 2 days later, the neonatologist stopped in to speak with us about following up with Children’s Hospital of Philadelphia (CHOP) regarding some observations she made when examining Nolan over the course of our time there. She noted that Nolan had deeply set eyes, had some hypopigmentation on his torso, marbling on his skin, and syndactyly in his toes (2 fused on the left, 3 on the right). Any time a constellation of clinical signs like this presented, she said, it was wise to follow up with a geneticist, as it could indicate a syndrome or condition genetic in nature, and with these particular signs, she was thinking CMTC. With tears in my eyes, I hardly understood what she was saying, and did not want to believe there was an issue.

Over Nolan’s first several weeks, we visited a handful of specialties at CHOP, starting with Genetics, Plastics (home of the Vascular Malformation Clinic), Ophthalmology and Neurology. Nolan did not demonstrate any clinical signs of major concern at the time, although the neonatologist’s observations were confirmed, and we were instructed to come back once he was about 3 months old. By this time, macrocephaly, right-side hemihypertrophy, and vascular/capillary malformations had become apparent. Upon follow-up with Genetics, it was recommended we see Orthopedics and Urology regarding the hemihypertrophy.

We continued to follow up at CHOP with all Nolan’s specialists, feeling very grateful to be in such close proximity to a world-renowned medical institution of their caliber. While Genetics worked on a diagnosis, I began to research the possibilities. M-CM seemed a good fit, but at Nolan’s young age it was difficult to determine whether he was demonstrating some of the more minor clinical signs that could help us identify M-CM as his condition. I wondered about some of the other syndromes with similar signs, such as BWS or Parkes-Weber.

In July 2012, when Nolan was 10 months old, in addition to the macrocephaly, marbled skin, body asymmetry and toe syndactyly, we were also able to see some of the more minor indications of M-CM, including fullness of the cheeks, puffy feet, very small and deeply set toenails, and mild hypotonia. Genetics concluded, on this basis, that M-CM was the most appropriate diagnosis, and at the same time, they were able to definitively rule out other syndromes with overlapping features.

While we had been holding out hope that there might be no syndrome, that all this was just coincidence, it was settling in some ways to receive a diagnosis. This put a name, and therefore an identity, on Nolan’s medical concerns, and allowed us to devise an action plan for appropriate monitoring of his health, so that we could immediately address any issues that may arise.

At the time of diagnosis, our genetic counsellor referred us to the research studies being conducted at Seattle Children’s Hospital. She explained that they had very recently found the gene pathway involved with M-CM, and that research was ongoing. Very little is known about this syndrome, and we felt an opportunity to participate in research and contribute to the medical community’s knowledge base, as well as do everything we could to help Nolan and other children with M-CM, was not to be missed! We promptly completed the necessary paperwork and signed Nolan up for the research work being done in Seattle.

Also in July, we visited with CHOP Neurology for a follow up, at which time we had an MRI done to check for any brain abnormalities in light of the new diagnosis. None were found, although the scans showed Nolan’s right brain hemisphere was slightly larger than his left, consistent with the hemihypertrophy. The neurologist suggested we contact New Jersey’s Early Intervention program, because Nolan seemed to be demonstrating some very mild delays in gross motor and speech skills. We were pleased to learn that other areas of development were within normal range. After meeting with NJEIS in August, we began physical and speech therapies.

Nolan was a bit late in walking (22 months) and in talking (26-27 months), but it was obvious to us that NJEIS was the key to his success in these areas. He just needed a little extra help. Over time, we, along with his therapists, determined that mild low muscle tone was likely the culprit behind both delays.

In February 2013, a follow-up MRI showed a Chiari I malformation. As fast as Nolan’s head was growing, far out of proportion to his height and weight, his brain was growing even faster. No hydrocephalus or syrinx was discovered. At this time, we began seeing Neurosurgery at CHOP to discuss potential decompression surgery. Because Nolan was demonstrating no symptoms of compression, the neurosurgeon did not advocate for surgery at that time; however, upon suggestion from the research team in Seattle, we decided upon yearly MR imaging to check on the progression of the Chiari, and were told by the neurosurgeon to call immediately if any symptoms arose. To date, none have, and Nolan’s most recent MRI in January 2014 showed a stable Chiari, no hydrocephalus, and no syrinx.

Nolan is 2 years and 4 months old as of the time of this writing, and is developing wonderfully. He is an extremely happy child, friendly, inquisitive, and clever. Unless we mention it, it is not obvious to anyone that he has any medical concerns. He continues to progress in speech and physical therapies, and we no longer need follow-ups with many of his specialists, as there are no issues that need addressing. We have routine ultrasounds and Urology visits, along with routine Orthopaedic visits with x-ray scanograms, as is protocol for hemihypertrophy, with or without M-CM. We also follow up regularly with Neurology for clinical exams to check on his brain development.

We are part of a wonderful community of M-CM families, and that resource is invaluable. We understand that the outcomes of this syndrome are vastly different, and Nolan’s presentation is quite mild. We are grateful for this, and very happy for the opportunity to participate in this community so that we can all work together to find out more about this condition, and more about what we can do for our children.

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About Heidi Heidi Frost lives in the United Kingdom. She is married with three children. The eldest, Jack, was pre-natally diagnosed with profound disabilities when Heidi was 28 weeks pregnant, although he was 8 years old before he was correctly diagnosed with M-CM. Jack is now 17.

Heidi is a full time Mum to Jack and his siblings, and spends her time caring for Jack, attending medical appointments and negotiating the minefield of obtaining necessary services for her son.

Heidi created a website about Jack in 2005 and found that telling Jack’s story was an incredibly positive and healing experience and she is looking forward to assisting other M-CM families to do the same. In her spare time she enjoys writing about her life with Jack on her website and spending time with her husband and children.