Patient Stories

Kierstyn's story

My daughter, Kierstyn Cabral, was born on August 15th, 2006 in Mt. Pleasant, Michigan. She was born 4 weeks early due to me having pre-eclampsia. They ended up having to do an emergency cesarean because her heart rate dropped during labor. I'm not sure if I lost consciousness on my own or if they put me out but when I came to I knew something was wrong. Before they would let me see her they wanted to warn me about what I would see. They assured me that she was okay but half of her body was almost purple and was mottled looking. The doctor wanted us to go to a specialist in skin disorders in Grand Rapids to find out the cause. They ended up diagnosing her with Cutis Marmorata Telangiectatica Congenita. Little did I know then that this would only be the beginning of appointments with specialists.

Our next appointment was with a Cardiologist after her PCP noticed a heart murmur during a check up. After running some tests we found out she had an enlarged heart and a murmur. Luckily, after about a year we went back and her body caught up to her heart. She still has the murmur but it's believed to be an innocent murmur that might go away as she gets older.  Another good thing to happen is by age 2 the purple on her body had faded so much that most people didn't notice it unless it was pointed out or they were looking really close at an affected area. 

Initially, we never noticed a difference in limb sizes. We knew her feet were shaped differently than most (they were rounder and thicker). The doctor recommended going to get special shoes made for her but we couldn't afford it (especially when she was still growing so fast). So, she never wore shoes until around age 3. This was around the time that we noticed her feet are different sizes (we had to buy 2 pairs of shoes in different sizes for a while). 

Around age 4 we were referred to a Pediatric Orthopedic specialist at University of Michigan hospital. After a lot of measurements we found out that not only was her feet 2 different sizes but it was her entire body. Her legs and arms are not only bigger on the left side of her body but they are longer too. Even her stomach is slightly bigger. This is when she was diagnosed with hemihypertrophy. At this point we learned that it can affect internal organs as well so they did an ultrasound. Luckily, everything looked good. We would be returning to the Ortho every 9 months or so.

Around this time she started school. We knew her speech was behind where it should be and that she might have something else going on too. The school did some testing and diagnosed her as borderline autistic. They also gave her an IEP to help her with her speech and language skills. She had many issues in school the next several years, ranging from outbursts to disobedience.

Around age 7 the Ortho noticed what appeared to be scoliosis and sent her for x-rays. They found a mild case of it so it was decided we would get her rechecked about twice a year.

This was also around the time that she was having many issues at school. Since she also had very large tonsils her PCP referred her to an ENT. The ENT ordered a sleep study thinking it could be sleep apnea. The results confirmed it and they did surgery to remove her tonsils and adenoids. Unfortunately, even though we saw some minor improvements it wasn't enough to stop the problems at home and school. The ENT said it can take time so we gave it about a year.

Around age 8 we were referred to a Genetics specialist. The geneticist found her case to be very interesting. He wanted to do genetic testing but that would require our insurance to approve it. Initially it was turned down but the PCP and the geneticist both contacted them to explain how much cheaper it would be to do the test compared to all the other tests they would need to do to rule everything out. The long wait began.

Around this time we returned to the ENT because she was still having issues. They referred her to a Pulmonary specialist in Grand Rapids for another sleep study. We found out that she still had sleep apnea. At this point she was put on a CPAP machine.

Shortly after turning 9 is when the insurance finally approved genetic testing. So, we returned to the Geneticist. They did some measurements and were concerned because her head growth since the previous year was much more than it should have been. He said he had a good idea what the results were going to be but he didn't want to say anything just in case he was wrong.

Shortly after this we got Kierstyn into a counselor to see if they could help with the issues she was still having at school (the CPAP helped with her tiredness but that was about all). After a couple months the counselor recommended testing for ADHD. So we went to her PCP and had the testing done. It turns out that she has ADHD and ODD.

At this time we finally got the call back on the genetic testing. It was determined that she had a somatic mutation in the PIK3CA gene which caused her to have Megalencephaly Cutis Marmorata Telangiectatica Congenita. The geneticist wanted a brain MRI done right away.  Luckily the MRI didn't show anything worrisome.

We returned to the geneticist so he could further explain the diagnosis to us. After years of wondering why Kierstyn had one thing after the next wrong with her (seemingly unconnected) We finally found out that it is connected and can be caused by M-CM. Also, even though it seems like she has it so bad she is actually lucky because she really only had a mild case of it compared to what it could be.

Even though M-CM is scary in so many ways, finally having an answer for everything is really very liberating. I know she will continue to have many doctor's appointments and tests for the rest of her life but at least now we know what we are dealing with. 

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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.