One of five children, Charlie Hart TenEyck was born at home on July 20, 2003, in a planned homebirth. Fatal respiratory issues required calling 911 and a transport to a local hospital to save his life after birth. Charlie Hart was initially diagnosed at the local hospital with Trisomy 21 based on a 20 cell count, which tested only for presence of trisomic cells on the 21st chromosome; the test was performed without our consent and against our wishes. He was given a very grim diagnosis based on these test results.
As Charlie Hart continued to grow and develop, I noticed he was developing just as typically as my other children. My repeated concerns about misdiagnosis were ignored by doctors and the local genetics hospital that had given him the diagnosis of Trisomy 21 Down syndrome. We sought out an alternate geneticist, Dr. David Flannery from Medical College of Georgia, who supported my claim that Charlie Hart’s diagnosis was incorrect; Dr. Flannery provided to me documentation (Exclusion of Chromosomal Mosaicism with Tables of 90%, 95%, and 99% Confidence Limits by E.B. Hook), which proved that testing only 20 cells was not sufficient to rule out mosaicism. Further, he suggested we repeat the test with a more quantitative cell count of 500 cells; in doing so, mosaicism could be confirmed or excluded with a greater certainty. After obtaining my consent for genetic testing, in October of 2006, Charlie Hart was diagnosed with Mosaic Down Syndrome (50%); at this time, only 50% of his cells were affected with trisomy on chromosome 21, meaning the other 50% were completely typical, having only two signals for chromosome 21.
At age 15 months-old, after he began walking, he started developing strabismus due to extreme hyperopia (farsightedness). At age 3 ½ years-old, doctors instructed me to patch his eye for two weeks in an attempt to correct the strabismus; glasses were never given as an option at that time. At almost 4, he required surgery to correct his strabismus. The surgery left noticeable scarring on the sclera of his eyes. Today, Charlie Hart has a pair of glasses, but he refuses to wear them most of the time because of the unsuitable frame design.
Charlie Hart’s speech development did not follow a typical path. At first, he was misdiagnosed with a speech delay because doctors and speech therapists relied on incorrect information in is medical file and assumed he had full-blown Trisomy 21. The incorrect diagnosis of ‘speech delay associated with Trisomy 21’ delayed proper treatment for his correct speech conditions. At age 5, we finally received a diagnosis of verbal apraxia, which is a neurological speech disorder affecting the motor planning of speech. He began to receive very specialized and intense speech therapy, one-on-one, for his verbal apraxia with a highly qualified speech language pathologist, who specializes in treating severe speech conditions. After two years of speech therapy and my insistence that he might have an accompanying speech/language disorder, the speech language pathologist and a new neurologist, both, diagnosed him with aphasia, which is always caused by some sort of traumatic brain injury. Up until this point, we had been unsuccessful in securing the cooperation of a neurologist to order a MRI brain scan to determine the cause of his speech condition. The MRI revealed the cause for the speech conditions, as well as incidental behavioral issues; an encephalomalacia was discovered in the periatrial white matter in his brain, along with some punctate areas in his right frontal lobe. Lack of proper oxygen supply after birth, not Down syndrome, was finally determined to be the cause of his speech disorders. Charlie Hart continues to use sign language (Signed English accompanied with speech) as part of his daily routine in order to communicate.
At age 4 years-old, Charlie Hart entered a public school early intervention program. After entering the public school system, he seemed to be on a downward spiral with repeated illnesses and respiratory infections. In the summer of 2008, he was diagnosed with chronic pulmonary infiltrates and an immune deficiency. It became necessary to educate him at home in order to limit his germ exposure and reduce the frequency of his illnesses. The Georgia public education program refused to provide him with homebound services, despite doctor recommendation and properly filled out homebound forms. After a year of enrollment without services, following due process under the Individuals With Disability Educational Act of 2004 to obtain the services, and an improper accusation of truancy from the public school for the school’s failure to provide homebound education, we formally withdrew Charlie Hart from the public school system. Today, we continue to educate him at home with no public school supports. We have customized a program to meet his needs, and we focus on language and math as core subject areas due to his aphasia. Some programs and materials we use to assist with home education are the following: TouchMath, IPAD apps, sign language instruction, various products from Lakeshore Learning, Super Duper speech materials, file folder games from Carson-Dellosa, Sing Spell Read Write, TV Teacher Handwriting Program, ABeka, Laureate Learning Software, ELF Series from Hope Inc, Bungalow Software, and homemade lapbooks and materials. Educational progression is delayed due to the delay in treatment and properly diagnosing his conditions; it is a continued work in progress, but he is thriving.
At age 8 years-old, he is currently learning to add and subtract single digit numbers and he is learning about U.S. money. He continues to learn how to read and he uses sign language supports as a major source of helping him to accomplish this feat. Recently, he read a Level 1 easy reader aloud with minimal support. He loves to use the computer, and he has additional supports of a DynaVox communicator, which he uses as a glorified touchscreen laptop. He also uses an IPAD for learning.
He continues speech therapy with a speech language pathologist twice a week for 30 minutes each, and is on a home program for speech therapy as well. He attends occupational therapy once per week, and also attends music therapy to learn to play the piano once per week. Charlie Hart has seen a chiropractor every week, recently, for a head tilt condition, which we recently found out from our new neurologist is due to cerebral palsy stemming from hypoxia and postnatal cerebral hemorrhage; cerebral palsy is a permanent condition. Having extra chromosome material on some of his chromosomes does not seem to affect Charlie Hart in the ways we had been told it would. He presents as an intelligent young boy with speech/language conditions caused from a brain injury surrounding his birth. IQ tests fall below the typical range due to his aphasia, which we have been told is typical for someone with this type of brain injury because IQ tests are largely language based. Charlie Hart does not suffer from any heart conditions. He continues to be a typical 8 year-old boy in all other ways. We continue to work on overcoming his speech and language conditions and we have decided that homeschooling better suits his needs. By limiting his germ exposure, we have been successful in reducing the frequency of respiratory illnesses. Charlie Hart consumes filtered water and he eats a gluten-free, casein-free diet, also free of almonds, dyes, and preservatives, due to food intolerances; the removal of dairy has virtually eliminated the need for asthma medications and has improved his overall neurological status and hearing. One day in the future, out of curiosity, we will retest his chromosomes to see how much his trisomic cell line has diminished; for now, we feel that knowing how many fewer cells are affected in not conducive to resolving his speech/language issues which affect his educational growth.
On December 21, 2006 I gave birth to a beautiful full term baby girl weighing 5 lbs. 14 oz. and 18 inches in length and we named her Isabella Grace Johnson. Everything seemed very typical except she had trouble with constipation and cried very little. I was told by her doctors to give her a little sugar water and to be grateful I had a child that did not cry.
At 4 months of age it was discovered Isabella was farsighted. At 9 months of age I kept asking why is my baby farsighted. I feel she has a small head and she still does not cry even though her teeth are coming in. I was referred to Genetics at the children's hospital. I am sure that doctor in the genetics department thought I was a little coo coo also, but agreed to do testing on Isabella. They did a simple blood test and I did not hear anything for one month. The next month I got the phone call that rocked my world and literally brought me to my knees. The woman on the other end of the phone said, "I need for you, your husband and Isabella to come into our office tomorrow. We found that Isabella has Triple X and there can be some learning delays that come with that. We also found that Isabella has Mosaic Down Syndrome." I had never heard of Triple X, but I did hear the words Down Syndrome and I thought I knew what that meant. The life I had planned in my head for my daughter was gone as quickly as you can say Down Syndrome.
Genetics also informed me that they could not locate any other children in the United States that had both syndromes. They explain they had never seen this combination before and had no idea of what we would be up against. I was also told that the medical community would have thought that two syndromes would have meant that she would have been severely disabled, but yet she was not. They referred me to the Down Syndrome Clinic.
At the Down Syndrome Clinic they checked Isabella over and gave me a series of test that she would need done yearly. They also helped me set up an appointment with early intervention. Isabella started receiving vision and developmental therapy. Later speech and occupational therapy was also given to her. Then a nurse said something to me that crushed me. She said, "wow I do not know what you are going to do. You will not fit in with the parents of children with Down Syndrome and you will not fit in with the parents of typical children." I left there in tears feeling like a toy on Misfit Island from Rudolf the Red Nose Reindeer. Just where would my child fit?
I quit my job for two reasons. One I needed to be with my baby and be proactive and get her all the help she needed. The second reason was I went into a deep depression. This news really put stress on my marriage also. We were not reacting in the same way. I did not understand how my husband could be so calm about everything. He just kept saying, "She is still my beautiful angle and I love her to pieces." Yes I felt that way, but damn it I had hopes and dreams for this baby and someone stole them from me. I had dreams of her being a doctor, engineer, lawyer, and they were ripped from me. This was a cruel joke that God had let me fall in love with this baby and then said Oh by the way this is not the baby you thought you had. Just how could my husband not see this?. How could he not understand all the extra help she would need? I did not know how or what to do to help her. I would go to sleep crying and wake up crying in a panic.
I joined the International Mosaic Down Syndrome Group and it saved my life. I finally had other people around me that knew how I was feeling. I also had other people around me that understood how my husband was feeling. I finally had people that had some answers for me and even managed to find two other little girls that had both Triple X and Mosaic Down Syndrome. I was able to connect with their mothers and it was heaven sent for me. IMDSA also helped me get into a rare genetic group that also gave me some insight into Triple X.
On Isabella's first birthday she came down with a stomach virus and had to be rushed to the hospital because she was dehydrating. At the hospital I met parents with very ill children. One child had a brain tumor, another was in kidney failure and that was a very pivotal moment for me. It hit me like a ton of bricks and I thought, "what am I so upset about Mosaic Down Syndrome for? I still have my beautiful baby and I will be taking her home. These parents might not have that chance." That day at the hospital brought me back to reality and made me very grateful. At that moment I realized the dreams I had for Isabella were my dreams, not hers. She will have her own dreams. What does a parent really want for their child? It is for them to be happy. Hell I don't care if she is a Wal-mart greeter as long as she is happy and it is her dream that she is following. I remember going back home and typing into the IMDSA about what had happened. It was so funny because all of the mother's said "oh you had the aha moment. We all had to go through what you were going through and everybody reaches that moment for different reason and at different times, but we all go through it."
For a little over 2 years Isabella received early intervention services in our home. Every week a vision, developmental, speech and occupational therapist would come. At age three it was cut off and I did not know what to do. I was put on a 6 month waiting list for speech which is our biggest problem and she was attending daycare that had preschool there.
I got her in with outside speech finally at the children's hospital and Isabella started preschool that fall with Pittsburgh school district. They agreed that Isabella also needed speech, but did not think she needed any other help. I told them that the only thing consistent about Isabella is she is inconsistent. I decided to sit back for a few months and let them see for themselves. It was almost kind of amusing because they had all the progress charts and they were so up and down and back up and then down again it looked like an EKG chart. They saw for themselves and realized I was right. They gave Isabella and IEP even though she score 85% on the IQ test. They started giving her developmental, speech, occupational, vision and even added physical therapy.
I also was not feeling great about the progress Isabella was making at speech. I just did not think the therapist were honing in on the real problem she was having. Just having her repeat all sounds with the letter F or S was not what she needed. Last spring I went on a religious retreat and met a speech therapist who recommended her boss. We went to the new therapist and Isabella was diagnosed with childhood aphasia, speech apraxia and auditory processing issues. The therapist said she had only seen this three times in 35 years. The proper diagnosis and the proper therapy has made all the difference in the world. I just keep thanking God I met that woman on that retreat and we are still friends. Isabella also has a few mild medical problems. She has a patent foreman ovale, (a small hole in her heart that is watched by cardiology) She has slightly larger spaces the cervical portion of her spine, she see neurosurgery. She wears glasses and has an ophthalmologist . She wears ankle braces to help strengthen and straighten her ankles, and see orthopedics. She was also just diagnosed with a slight thyroid problem and endocrine was added to the pack of doctors. Believe me all of these things are minor. Yes they have to be checked, but minor in the grand scheme of things.
I am so happy to say Isabella is almost five years old now. She attends Pittsburgh Public School. She does still receive all the services that school has to offer, but she is in a typical class room. She is talking in sentences that are understandable and it makes it so much easier for them to see exactly what she does know, which was a lot more than they had thought. She is funny, witty, beautiful and yes smart. She keeps up with all children and has plenty of friends that she plays with. She is the joy of my life and the best thing that has ever happened to me. My marriage is on a more stable and happy track. I never went back to work. I went back to school and God willing I will graduate with my Associates RN degree in May of 2012.
I was born in 1970, and at age 12 I was officially diagnosed with Mosaic Down Syndrome by two researchers at the National Institutes of Health, not far from where I lived in Potomac, Maryland; a relative miracle at the time! Previously, the NIH had little research compiled about Down Syndrome, and none on mosaicism. My diagnosis was a complete surprise to all involved, and inspired them to glean as much information about me as possible.
My parents advocated for me as much as they could to encourage me to succeed, and to get the teachers to help me succeed in school by making accommodations and adjustments to my coursework; basically, an IEP. I was labeled GT/LD, which stands for Gift & Talented, with Learning Disability. Where I was already talented, they put me in the top-level work groups and where I had difficulty, I was put in lower-level work groups; and even provided Resource Room/pull-out sessions for additional support. I was also placed in group-counseling to help me work on personal issues. When I was younger, from birth to age 10, my outward symptoms were much more obvious; a ripe opportunity for the more observant -- and cruel -- kids to tease me.
As I grew up, my parents kept in touch with my teachers and the principals about my progress, but it was less than in primary school. This was difficult for me, because I was not trained in how to do my own advocating! By the time I got in High School, my parents did the minimum -- reports from teachers, and occasionally from the principal, whenever I got into trouble for one reason or another. My behavioral issues stemmed from my frustration in lack of knowledge of how to advocate for myself, I think. I was assumed to have the maturity and responsibility to handle it, but I didn't have the authority.
After trying a large university and a community college and not succeeding in either place, I went to a technical college for higher education; I achieved a 3.75 GPA there, while holding down a part-time job at a fast food restaurant, and I also was Treasurer for the Student Council at the school. I graduated with an Associate's degree in Computer Science, and then transferred to The American University in Washington, DC where I earned my Bachelor's degree.
I met my husband while attending American University; I told him about my situation with Mosaic Down Syndrome, but decided that my potential was greater. BTW, he has ADHD! He proposed to me after dating for about seven months, and we had a further seven-month engagement. We are now happily married for fourteen years, and we have two young daughters ages 10 and 7; my older daughter has no disability, but our younger daughter was recently diagnosed with ADD.
I am currently working on several projects, all related -- Parent to Parent of Georgia, the IMDSA, and self-advocacy. My goal is to see that IEPs are progressing successfully, and if not, to investigate and rectify the conditions and report them to all involved persons. I am also pursuing an opportunity to become a published author. I enjoy reading, cooking, and being outdoors, as well as taking care of my wonderful children!