Patient Stories

Matthew's Story

My son Matthew was diagnosed with M-CM (previously M-CMTC) in March 2005. Previously we were searching for his diagnosis. He was born on July 22, 2003 at 10lbs 11 oz at 38 weeks gestation in our home town of Santa Barbara, California via planned c-section because his head was so big. His head was the size of a term infant at 16 weeks gestation on ultrasound and just kept growing. Although he was big, had a big head and had hypotonia at birth, he had a normal MRI. He spent 5 days in the NICU for respiratory distress thought to be due to larnygomalacia and hypoglycemia. The neurologist thought he might have Soto’s syndrome.

Matthew saw his first geneticist at 6 weeks of age who did not think he had Soto’s syndrome. He developed hydrocephalus 6 months of age when he had his first shunt placed . Matthew then saw another geneticist who thought he had Beckwith-Weidman syndrome. The tests for this syndrome came back negative. Then he was seen by 4 additional geneticists who felt he did not have Beckwith Weidman. But noted he had Hypotonia, Nevus Flameus on forehead and above lip, hemihypertrophy (right side larger than left) and hypotonia. Matthew ended up being sick a lot, he had multiple ER visits for high fevers, respiratory infections, a bleeding capillary hemingioma on his forehead for which he had to have stitches. He then had 2 additional shunt revisions and on his MRI he developed a Chiari 1 like malformation.

I started cross referencing hemihypertrophy with hydrocephalus on the internet and came across the macrocephaly CMTC website. Matthew had every sign listed in this syndrome so I called my geneticist friend in Fresno and asked her to review it. She suggested I contact the website and find out where some of the other children were seen. The closest place was at Cedar’s Sinai in Los Angeles so I met with the geneticist and neurosurgeon at Cedars. Matthew’s Diagnosis was confirmed to be M-CMTC. In retrospect Matthew did have the marbled looking skin at birth and he does have a mild 2nd and 3rd toe syndactyly. When the neurosurgeon at Cedars looked at our most recent MRI he said that the brainstem pressure was significant and Matthew needed a posterior fossa decompression . We obtained a second opinion from our previous neurosurgeon who concurred. We proceeded with the surgery but there were complications due to previous shunt malplacement. We spent much of the next 2 years in and out of the hospital due to shunt revisions, shunt infections and respiratory issues. In total Matthew required 9 neurosurgeries and 4 hospitalizations between May and July of 2005, 14 neurosurgeries before the age of 4, he is now 9 years old.

Matthew was set up with multiple therapies. As an infant he received developmental infant stimulation 2 times per week, PT and OT 2 times per week, Speech therapy once a week and Vision specialist once per month. At age 4 he was able to get himself from the floor to sitting position and bottom scoot across the floor which was previously a big challenge due to his big head and low tone and he could army crawl and was able to walk and run with assistance from a walker with support between his legs. Now at age 9 he can walk unassisted but still has difficulty with curbs and steps if there is no rail. He has fatigue with walking long distances and requires an adaptive stroller due to this. He does not jump and has balance issues. He occasionally injures his knee or hips due to the hypermobility of his joints and requires resting for several days to weeks after. He used to wear braces to assist with ankle and knee support but now he is mainly wearing tennis shoes with a 2 cm lift on the left for leg length discrepancy. His speech was delayed (he only had a few words at age 2) but short sentences by age 4, and now is extremely verbal at age 9. His vision is impaired, he had estropia which improved after decompression surgery and he had strabismus surgery in 2007 and again in 2010. He has issues with his lower field of vision and depth perception. Although he can see and can match letters/objects he is not yet identifying letters or numbers consistently. We suspect a issue with visual processing as the visual acuity seems to be functional. He has been able to memorize some site words. He can spell words verbally. If you ask him to spell the a word he can do so verbally, or if you spell a word he can tell you what it is. If you give him just the phonetic sound he will tell you the letter. Anyway it has been quite a challenge at school and we have not yet found the curriculum or method that can help him master reading. He is included in the general education setting with a one on one aide and special education support. He receives speech therapy, occupational therapy, vision services, adaptive PE , and orientation and mobility services when at school. In addition he goes to the medical therapy unit once a week for PT and OT. He has fine motor delay and can not write but is pretty successful with a touch screen on his IPAD. He has had an evaluation by a neuropsychologist that made specific recommendations for school and home. He receives 2 hours a day of behavioral therapy after school each day. His major behaviors have really been task avoidance, because the fine motor activities are difficult for him. The behaviorists are also working on social goals because although he is very friendly his ability to have a conversation (ie. ask appropriate questions and give appropriate answers) with his peers is somewhat limited. He often tells random strangers he loves them and engages everyone in conversation. They have also worked on daily living skills and he can now make his own sandwich, use the microwave, start the dishwasher, and do the laundry. Matthew was also seen at the Southern California Diagnostic Center through a referral through our school district. Despite the eval by the psychologist, AT, vision, OT, and geneticist there, the only significant recommendation was to give up on academics, do a functional curriculum , use the IPAD only for leisure activities and verbal spelling a useless skill. So not so helpful. Despite all of Matthew’s challenges, he has made significant progress. Those who were told that there will be a plateau at age 8, I wouldn’t count on that. We as parents are still trying to help him maximize his potential and he gains new skills and surprises us each day. As far as the specialists he sees now or in the past, they include genetics, pediatrician, developmental pediatrician, orthotist, orthopedic surgeon, pediatric neurologist, pediatric neurosurgeon, neuropsychologist, opthamologist, developmental opthamolotist, dermatologist, dentist (He has required dental work under anesthesia), podiatrist, plastic surgeon (due to significant drooling from his hypotonia even at age 9), and ENT. It has been recommended we see endocrine because of his persistent hypoglycemia with fasting, I haven’t done that yet but have spoken to several regarding this issue.

Despite all of his surgeries and challenges, Matthew is a very happy child and a joy to us as parents. His infectious laugh, sense of humor, and pleasant demeanor are evident to all that meet him. I am so thankful for the original M-CMTC website, otherwise we would have not found his diagnosis.

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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.