Debbie and Ashley
Twenty years is a long, long time. Twenty years of waiting, of wondering, of worrying. Why did my daughters, Debbie and Ashley, have this constellation of symptoms and not one geneticist could find the answer? They were tested, they were imaged, and they grew terrified of people in any sort of white coat. Why did they seem to run into walls and trip over curbs? Why was Ashley non-verbal while Debbie had speech? What was their life expectancy? Why did they get apthous ulcers?
Debbie was born in 1982, weighing in at 6 lbs even. She was immediately whisked away to the NICU due to a traumatic birth, and meconium aspiration pneumonia. She was in the NICU for 6 days and upon us leaving, one of the doctors there mentioned that he was very worried about her lack of muscle tone. They had reassured me that she was going to be fine, so I ignored that doctor.
The following months were difficult. Debbie didn’t grow much; her head seemed to not be growing. I tried nursing her, but it was obvious it wasn’t working, so we went to a bottle. Still, it took 1 ½ hours to feed her four ounces when she was four to six months old. She was my first child and I was quite young, but I was pretty sure this was not normal. At her four month well baby appointment, the small town doctor had grown very concerned and called her a Failure to Thrive baby. Did that mean I was a bad mom? What was I doing wrong? He referred us to University Hospital.
Debbie’s father and I moved quite often in those early years and shortly after that referral we moved to a larger town. We never went to the referred doctor. While in this new town, I became more convinced than ever something was wrong so I took her to the neurology clinic they had at the local health department. Immediately we were signed up for Infant Stimulation classes. The first round of testing began. In denial and desperation , I argued with the therapists and case managers on anything they noticed or saw. There were many tears until a small amount of acceptance came.
By the time Debbie was eighteen months old, we saw the first of many geneticists. They took pictures, x-rays, sent her to the eye doctor, did loads of blood work. In the end, they came back with Debbie had Cerebral Palsy due to difficult birth and that she had very, very poor eyesight. No follow up was made, and they told my husband and me not to worry about future pregnancies.
Time went on and in 1985 we had a healthy son. Hmmmm, so that is what a vigorous and healthy baby feels like when he kicks. When he was born, I noticed right away what the difference was between a baby with hypotonia and a baby who had healthy muscle tone. So, when I became pregnant again shortly after that, I knew in my heart something was wrong. The baby kicked rarely and so lightly I almost couldn’t feel it. Ashley was born in 1987, and I knew by looking at her that first time that she had it too.
Ashley didn’t look at us, she was floppy too, she fed only slightly better than Debbie had. She was tiny too. Derrick, their brother, weighed in at a healthy 8lbs 13oz. Ashley was 6lbs 6ozs. She didn’t smile until she was four months old. I was terrified. I told the pediatrician how worried I was and he told me that I was just worried because Debbie had problems. No, I was worried because I knew in my heart, no matter how much my mind tried to deny it and buy the doctor’s reassurances, that Ashley had what Debbie had. Finally, when Ashley was six months old, we took her to the Neurology Clinic at the health department, and it was there that I was told that Ashley needed start Infant Stim classes immediately and they made the first of many appointments at the Genetic Clinic at Denver Children’s Hospital. I can honestly say that was the worst day of my life.
By the time Ashley was one, she already had the thick glasses. She didn’t walk until she was 2 ½. She never uttered a sound. Like Debbie, she was sick a lot. We had tonsils taken out, not to mention three sets of ear tubes, the last ones being permanent. We went to the clinic every year and nothing. More blood tests, bone age x-rays, CT scans, and MRIs. It was about this time that the fear of white coats began for the girls, with Debbie completely freaking out once when I took her for a haircut. There was no way she was going anywhere near anyone with a white coat, and so the stylist took off the coat and Debbie was fine.
In the following years there were more visits that came to no conclusions. Debbie, at around eight years of age, suddenly gained a bunch of weight around her middle. None of us could figure that out. We noticed the Debbie, then a couple of years later Ashley too, tripping on curbs, struggling to see at night, and walking into walls. Their teacher was very concerned and thought we should see the eye doctor, but all he said was that he didn’t know what they were seeing. We would come across that attitude over and over. Debbie got some mysterious disease where she got canker sores in her mouth a few times a year. They took forever to heal and in that time she would refuse everything but liquids. A couple of years later Ashley developed them too, and hers were much, much worse. She was so tiny and would lose a lot of weight. The doctors couldn’t figure that out either.
On one visit to the clinic, they ran a full blood panel on the girls, this time with an ANC. Wow, they found something! It was very, very low for both girls, but Ashley’s was much lower. They told me to follow up with our regular doctor, which I did. He redid the test, with the same results, and then told me not to worry about it. Not knowing any differently, I went home and didn’t worry about it.
At some point I just couldn’t do it anymore. I decided I was no longer taking the girls to the clinic, no more tests, no more two hour drives, just no more. For a few years I decided they were never going to find the answers. Never. Then, when Ashley was 12 and Debbie was 17, I had a new baby and even though he had a different father than the girls, I went into a panic. I had taught myself genetics, I knew that realistically the chances of Nic having the same thing as his sisters was astronomical, but I couldn’t be objective, so I made an appointment with genetics again.
Nic was fine, but there was a new geneticist, and she thought she saw something that had never been reported in the literature. She wondered if the girls had different syndromes. What if Debbie had Prader Willi syndrome and Ashley had Angelman’s syndrome? She asked me if I would sign a waiver to have the girls in the paper she was going to write. Of course I said yes. Then she began testing the girls. Eventually it would be four times she tested them, using different testing methods. She was still sure they had Prader Willi and Angelman’s , but the tests were always negative.
During this time I, once again, started searching. This time I didn’t need to pour over library books that never had what I was looking for. This time I had the internet. And so I searched and found nothing. The old feelings of helplessness and hopelessness returned with a vengeance. I gave up once again, but this time it was not long before I got a fire set under me and I found “IT.”
I was speaking to a friend of mine on the phone one day about the girls. She was convinced it was autism and nothing more, but I knew better. I knew they had certain facial features that set them apart. Whatever it was, I was quite angry when I got off the phone. I went directly to the computer and typed in “microcephaly.” Five things came up this time and four of them the girls had already tested negatively for. And there is was, Cohen syndrome. I began a new search and found the Finnish paper that was online. I printed everything I found, which wasn’t nearly as much as there is today. I had kept all of the girls’ medical records and so I dug them up. I cried as I was able to check off all of the symptoms but two: retinal degeneration and neutropenia. They hadn’t had their eyes examined in enough detail to know if they had the retinal degeneration. The low ANCs also needed to be explored more. I made an appointment with genetics and got in a month later.
The doctor, who had been so convinced of Prader Willi and Angelman’s, did not like my findings. I finally had to push very hard to get an ERG with a doctor who was a geneticist as well as an ophthalmologist. The day came to sedate them, one after the other, and do the test. It was positive. What a bittersweet moment for me, as I had just learned my daughters were going to most likely going to be blind at some point, but I had my answer finally. It was Cohen syndrome. The eye doc/geneticist fully agreed with me. The geneticist did not. She wanted to test one more time for the other two syndromes. I said no.
Along the way, Dr. Wang’s clinic came up and I found there was going to be a family meeting. I had joined a Yahoo group with a couple of mom’s on there where I saw their children’s pictures and they all could have been twins. But I needed more. I flew to Ohio for the meeting alone.
I vividly remember walking into the front door of the DDC Clinic and the first young man I met was the spitting image of Ashley, he played with keys just like Ashley, but he spoke like Debbie right down to the same unusual set of words. I met children that day that reminded me of one girl or the other, and sometimes a combination of two. Their mannerisms were so familiar. Talking with the other parents, I could nod and say “YES! MY CHILD DOES THAT TOO!”
After 20 years of searching, I went back to the hotel that night and cried for hours. I knew! There was no more doubt. The old geneticist held on to her belief that I was wrong, so I found a new one. The girls have since been clinically diagnosed. The test is available, but the new geneticist decided the girls fit the symptoms so well that the blood test wasn’t needed.
I’m so grateful that there are doctors out there now that have Cohen syndrome on their radar. There were two missed opportunities in our case for a diagnosis. The earlier a child is diagnosed, the more parents, doctors, and therapists can help them. My hope for the future is that parents and children will not have to wait years for a diagnosis like I and many others have.
As a team member helping to create promotional products for individuals and businesses, Joe is quite busy at a nonprofit agency. Born 22 years ago, Joe has a story of hope to reveal to those diagnosed with Cohen Syndrome.
With most of the growth and developmental milestones delayed, Joe did learn to walk at the age of 27 months. Speech did develop and blossomed at the age of 8. Use of augmented communication devices has proven to be beneficial; however, most speech is understandable to those whom Joe speaks on a daily basis. Vision has been an important issue since the age of 5 when Joe started wearing glasses. However, vision training and vision mobility has proven to be quite useful for everyday living.
Joe’s memory is most definitely a strength beyond most. In fact, total recall of past experiences is amazing when discussing areas of interest. Discovering an area of interest to be with trains and cars has even expanded the sight words in reading. Joe’s vocabulary has increased to include many functional words and even sentences that can be read fluently with practice. Touch math seems to work best, but counting to 50 is mastered with few prompts. Calculator skills work well when concentrating on numbers and this can be beneficial when purchasing items at the grocery store. Payments are usually rounded to dollars; however, numerous concepts with money are being understood with practice when purchasing items from the store. Food and games are a favorite purchase, for there is usually no desire for clothes to be purchased.
Walking, running, some reading, and sincere caring about friends and loved ones are a part of Joe’s everyday being. Perhaps, today’s questions about Cohen Syndrome may be dark spots in the present; however, with support the future holds a lot of bright areas to be uncovered. Joe lives everyday for the celebration of life with a smile that lingers waiting only to get bigger with all the new accomplishments in his days ahead.
After 14 years of waiting, an answer
PINELLAS PARK — In 2006, Mikayla DeMarco had one wish — a red tricycle like the one she rode in class. That wish was granted by the Kids Wish Network, a national nonprofit that grants wishes to children with life-threatening illnesses.
Beth DeMarco, however, just wanted to know what afflicted her daughter.
After nearly 14 years, with the help of a doctor at All Children’s Hospital, she learned that her daughter has a rare disease — so uncommon that only about 1,000 people in the world have been diagnosed with it.
Mikayla attends Nina Harris Exceptional Student Education Center in Pinellas Park. She likes puzzles. And swimming. And riding her bike. She always seems to smile and never cry.
Born with mental retardation, she also has poor eyesight, weak muscle tone, gingivitis and a host of other ailments. She does not speak, but communicates with hand signals, something her mother calls DeMarco Sign Language.
A few years ago, she had been diagnosed with cyclic neutropenia, a rare blood disorder that cripples the body’s ability to fight infections.
With more ailments came more clues for Beth DeMarco, but not the answer to her question.
After her daughter was diagnosed with neutropenia, DeMarco sought help from Claudia Lukas, a hematologist at All Children’s Hospital.
For three years Lukas had seen Mikayla for checkups and blood tests. In December, Lukas said she “Googled” some of the symptoms and the same results kept appearing.
“The most interesting part was that one of the symptoms is also described as a cheerful disposition. And I just remember how she would always want to come in and hug you,” Lukas said. “She has a very pleasant affect and I thought this must be her.”
So Lukas persuaded DeMarco to have her daughter undergo an $8,700 genetic test on Dec. 24, 2008.
Taking the test
After years of waiting, DeMarco was told it would take another 12 weeks to find out what the DNA test would say. She hardly could stand it.
DeMarco called March 20 for the answers. Results were not supposed to be ready for a couple more days, but there they were.
“After three long months of waiting it came back. It was great just to finally get the diagnosis,” Lukas said. “And to see how relieved she was in 14 years of not knowing.”
Lukas said Mikayla has Cohen syndrome, a rare genetic disorder. Both DeMarco and her ex-husband carried recessive traits for the gene.
Characteristics of the disease included weak muscle tone, near sightedness and distinctive facial features.
Most of Mikayla’s traits.
DeMarco looked at pictures of other kids with the disease. They looked like her daughter. Finally she had her answer.
But that did not solve everything.
“We are going backwards through the whole thing,” DeMarco said.
Search for support
She is part of the Cohen Syndrome Association, a support group for parents who have children with this disease.
Of about 1,000 people worldwide known to have the disease, only about 100 of the cases were diagnosed with a blood test, like Mikayla.
However, more people could have the disease and not know it.
“We need to get the word out there,” DeMarco said. “If it was so easy for my child to have, who is to say there is not another parent sitting around that has a kid with the same symptoms?”
We were expecting a healthy 7lb baby girl to join our family. The baby was breech and my doctor was planning on inducing labor; I ended up going into labor on my own. At delivery, the doctors realized that something was wrong with my daughter and sent her immediately to the NICU unit. Delivery concerns were low birth weight, weak cry, high palate and shape of head. My husband and older daughter were in the delivery room and we were all devastated with this event. We assumed she was a preemie and she would catch up.
The first year was the biggest challenge as you are in denial and doing everything in your power to help your child. The low muscle tone affects many aspects of development; typical milestones were significantly delayed and feeding issues were present. Health issues consisted of RSV, high fevers and numerous ear infections that I had attributed to her small size (5th percentile).The early months consisted of feeding, changing and sleeping with no response to her environment; Meghan did not smile at me until she was 7 months old. I realized that my daughter had severe vision issues and we found a pediatric ophthalmologist. The corrective glasses made a huge difference for her development. During this time my concern was that my daughter was possibility autistic with developmental delays.
Our state has an infants and toddler program that provided Meghan with early therapies for PT, OT and speech. In addition, we were referred to Johns Hopkins by our pediatrician for additional testing. (8 months) The outcome of the visit to the neurologist was a normal MRI and normal lab work results. We were told “Global Developmental Delayed” and to wait and see if it was possible that our daughter would catch up.
We returned to Hopkins for a follow-up appointment when Meghan was 15 months old. Our concerns were developmental days and possible Autism. Doctors found no sign of autism and advised us that a genetic cause seemed to be a factor. My husband and I decided to pursue a diagnosis at a later time as Meghan had already been put through so much. We were referred to an orthopedic specialist and leg braces were prescribed; Meghan did not walk until around 2 years old. At age 3, Meghan graduated from the Infants and Toddlers program and started a special Ed program in our local school. We were very fortunate to find caring teachers that had a positive impact in helping our daughter.
My husband and I decided to pursue diagnosing when Meghan was 5 yrs old. We took Meghan to a new neurologist for a second opinion and another MRI (normal). At that time, we were referred to the Kennedy Krieger Institute in Baltimore, Maryland. The visit was very lengthy and consisted of many questions regarding Meghan’s development milestones and family history. My husband was not able to attend the appointment but my mother was able to come instead. With my Finnish heritage and Meghan’s clinical symptoms, the doctors were able to solve the puzzle and give us a possible diagnosis. They did provide other possible diagnosis, but Meghan demonstrated most clinic features of Cohen Syndrome. I recently had a follow up appointment with the Doctor that diagnosed Meghan and asked how they did it. The answer they gave me was due to luck in some part as Cohen Syndrome is rare. (Meghan is the only Cohen Syndrome child they have seen).
Meghan is now in kindergarten and has a full time aid with main stream and special education instruction. We have recently introduced Ritalin to help Meghan focus and stay on task. Meghan currently receives PT and Speech therapy services; she is non verbal and communicates with a “Springboard.”
Our current challenges include profound speech delay, vision concerns and ensuring that we are giving her every opportunity to gain skills. I do feel blessed with all of the things that my daughter can do and how far she’s come since birth.
I have to say that early intervention is the most important aspect of having a special needs child. It has made a huge difference for our daughter and I believe there are many future milestones to come.