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.

About Mikayla

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?”

Article used in reference to the Tampa Bay News

Jared Leone can be reached at (813) 269-5314 or jleone@sptimes.com.

By fourteen months he wore glasses for nearsightedness, had open-heart surgery for a large VSD and had pneumonia twice. My son’s weight at fourteen months was 12lbs. He weighed almost 7 pounds at birth and was 19inches long. He just ate and slept. He seemed to almost stop growing and had a very relaxed muscle tone. He almost never cried and if he did you had to be in the same room to hear him.

After the open heart surgery he started to gain some weight and become more active. No one could explain what or why or where we needed to go from there. He seemed to get sick so easily and almost always with an upper respiratory infection. We would go to the doctors and they would say “it’s viral” go home it will clear up. One year he was out of school for 82 days!

He had canker sores in his mouth; they were awful. It was no wonder his speech was so bad. They would come and go and sometimes he would start with one and in a single day develop 2 to 4 more with no answer as to why. I thought it was how we were brushing his teeth. I have an entire collection of every type toothbrush known to man. It didn’t matter the mouth sores still came.

We did foot orthotics, physical therapy, speech therapy and occupational therapy. We did it all. He started early intervention programs in school at fourteen months, then inclusion programs in general education and finally self-contained classroom education. Since no one could answer why we just did what was best for our son each year.

We always asked ourselves what we wanted he him to look like in five years, knowing where we wanted him to be made setting goals easier for the educational professionals.

Each goal was one step closer to where he needed to be. There were things he might never be able to do. Technology would be able to fill the void. An example was that we were told that he would not read, but there were programs that could read for him. We kept moving forward forging a trail within unknown fields. We demanded that he use his words as he interacted with others. Every typical milestone was a big hurdle. But we managed and he progressed in his own time.

When our son was seventeen years old I was researching his vision issues on the Internet and a link popped up that read “Cohen Syndrome”.

I had looked for seventeen years for someone who looked like him or had some of the medical anomalies he had. We had spent seventeen years being “sort of like…” When I saw the pictures of what Cohen Syndrome looked like there were not words to express my shock and excitement.

I started to read and understand what Cohen Syndrome was all about.
There was my son. We already knew about the vision issues, the unusual development of his hands and feet. What we didn’t know about was NEUTROPENIA. We made an appointment with hematology at our University Hospital for an evaluation of Neutropenia.

After a series of tests the doctors confirmed that not only does he have Neutropenia: he has severe chronic Neutropenia. Now with daily injections of Neupogen, courtesy of the Neutropenia Registry, my son has been illness free with no mouth sores for the first time in seventeen years!

This past year has been exciting for us to learn that there are others out there with Cohen Syndrome.

Our son has continued to thrive.

Our state provides services until age 26, so he is still enrolled in school. He is learning how to use mass transportation, purchase items, go to the gym and then return home. He also participates in a few social activities in our community. He enjoys video games as any other typical 19 year old. He is able to read ‘whole words,’ and has a complete awareness of his surroundings. His life is fulfilled.

After attending a family gathering in Ohio where we met other families who have children with Cohen Syndrome we decided to form an organization. We have been able to design a web site to help others in answering questions about living with a child with Cohen Syndrome. We have created alliances with search engines as well as other organizations that parents might go to in their search for information.
There are many children with Cohen Syndrome who are not being diagnosed because of its rarity. In the year our web site has been up we have averaged one new family finding our site each month.

The families that have contacted us have been ones who have diagnosed their own children with Cohen Syndrome. Our hope is that many more parents will find the information that they need, either through awareness of the medical profession or our website so that they can understand the challenges that await us all in understanding of 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.

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.

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