Preston Is Truly One Of A Kind
A disorder is considered rare when fewer than 200,000 people in the United States has the condition. Some of us with rare disorders go to the emergency room when something goes wrong, it is after office hours and we do not have a choice, but when we get there the doctor looks at us with a blank stare. Suddenly we feel like we must be one of a kind. Here at Chronically Awesome, we have heard of patients with rare disorders watch doctors grab manuals or google the disorder.
The Only One
I got an email from a lovely woman named Laura. Laura wrote to tell me about her son and her email got me wondering, “when it comes to rare disease, what does Preston do?” You see, while I am thinking about the 200,000 person level of illness there is Preston. Preston is THE ONLY PERSON with his disorder. How does one deal with being the only one? How does a parent manage the parenting of multiple children while one of them has this very special disorder, so I Iooked at Laura’s email again. I stared at the chart that contained all of the information about Preston, and I realize that the core point of the message is this, “(I am) SO grateful to be the mother of this totally AWESOME boy who is loved by everyone he meets!” Let me tell you about this awesome young man. This young man that received a proclamation from the state of Texas. This young man that is so unique that he has a section of a medical journal set aside to discuss his chromosomes.
What Would Preston Do?
I tried to look at all of the information available to me in the way an emergency room doctor would. I checked the Merck Manual and WebMD. Finally, I turned to the research paper written about the condition that I was fortunate enough to have a copy of. Preston has Unique Interstitial Deletion of Chromosome 15q21.3q22.31 and at t;(1:15)Translocation.
For those of us who live under the umbrella of orphan conditions, it is hard to decide if having a research paper written about you is an honor or day of kicking the can down that dead-end alley of “no cure, no treatment”.
I have been emailing back and forth with Preston’s mom today. I needed to get a good copy of the research poster that the report authors created to explain Preston’s disorder. I can tell you that this is really complicated stuff. I prefer to stick with Laura’s description of Preston than that of:
Diana D. Villarreal, Pawel Stankiewicz, Sau W. Cheung, Rebecca Okashah, Andrew Martinez, and Elizabeth Roeder MD/PhD Program, The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, 3Department of Pediatric Genetics, Children’s Hospital of San Antonio, Baylor College of Medicine, San Antonio, TX, USA
I am not going to lie, that is an impressive list of experts. You see, when you get down to the analyzing of chromosomes and you find deletions in very specific regions there is a sort of protocol. Rather than repeat work that has been done you go to the published work of other researchers to compare what you have found with the literature. When you find nothing, as a researcher and a doctor it is important to remember that second part: doctor.
The Power Of The Chromosome
Yes, these chromosomes have numbers and the sections have their own labels and each and every part of the chromosome
is responsible for something, but that “something” is an ability in a person and if those parts are deleted or damaged then those damages and deletions become “something” that is responsible for a “disability”. In the case of the “boy who is loved by everyone he meets”, this is what, in short, is the result.
We report a 14-‐year-‐old young man with intellectual disability, attentional difZiculties, growth restriction, microcephaly, dysmorphic features, and a history of strabismus and epilepsy. He was initially found to have an apparently balanced translocation 46XY,t(1;15)(p13.3;q22.3) by routine chromosome analysis in 2007. Subsequent chromosome microarray in 2008 identiZied a 9.5 Mb interstitial deletion of chromosome 15 at the breakpoint junction, 15q21.3q22.31. Deletions in this region are infrequently reported in the literature. With this deletion, TCF12 was lost, resulting in a haploinsufZiciency that has been associated with intellectual disability, as seen in this patient, and craniosynostosis, which was not clinically apparent, although the child has microcephaly. In this report, we examine this patient’s phenotype and compare it to other patients with similar 15q deletions.
Here is a clinical report for Preston:
History (taken at age 12)
- Normal, uncomplicated pregnancy and birth with normal fetal movements, routine prenatal care, and no known polyhydramnios
- Birth by Cesarean for breech presentation
- No known craniosynostosis
- Hypotonia noticed in infancy
- Absence seizures throughout childhood, controlled with Lamictal, until resolution at 10 years old
- Strabismus noticed at 1 year old, with surgical correction at 6 years old
- Developmentally delayed with moderate intellectual disability
- •Sat up at 9 months old, walked at 3.5 years, achieved bladder control at 9 years, and bowel control at 12.5 years old.
- IQ: Leiter International Performance Scale-°©‐3, Nonverbal IQ = 43, Percentile = <.1 •Expressive Language: Expressive Vocabulary Test-°©‐2, Score = 20, Percentile = <.1, age equivalent 3:3 years
- •Receptive Language: Peabody Picture Vocabulary Test-°©‐4, Score = 26, Percentile = <.1, age equivalent 3:11 years
- Behavior Assessment System for Children-°©‐2, hyperactivity (T-°©‐score = 72; clinically signiZicant), atypicality (T-°©‐Score = 60; at risk) and attention (T-°©‐Score = 68; at risk)
- Emotional: Behavior Assessment System for Children-°©‐2, anxiety (T-°©‐score = 62; at risk)
- DifZiculty feeding with failure to thrive, treated with gastrostomy tube placement at 12 years old
- No family history of any genetic or chromosomal disorders
- Parents with normal karyotypes
- Two healthy siblings
That is the technical stuff. However, when Preston was introduced to me, this is the Preston that I know, reports be damned!
This is Preston. Preston has a translocation of chromosome 1 and 15, and a partial deletion of 15. He is the sweetest, happiest, boy I know! He turned 16 in December of 2016. No one else shares his unique chromosome abnormality. He was actually studied and written up in the genetic journal. …. SO grateful to be the mother of this totally AWESOME boy who is loved by everyone he meets!! We wrote letters to have this day observed when we lived in Texas, and they agreed as well as sent us an official certificate! Very cool.
There is a reason that Laura is grateful to be Preston’s mother. There is a reason that Preston brings joy to everyone that he meets. There is a reason that, even though I began by thinking about what it must be like for this young man to be different, that being different is not a disability for Preston. I was thinking about this the wrong way, about how hard it must be for him until I learned what his life is really like: I learned that Preston’s life is full of laughter and love.
What Would Mom Do?
Sometimes it’s tough parenting a chronically awesome child. Parents have to work with doctors and advocate for their children. That means that as a parent there can be disagreement with the medical team. For example, Preston has a feeding tube at his Laura’s request. Preston wasn’t gaining weight. There are only approximately 12 things he can tolerate eating by mouth because of a sensory integration disorder. The endocrinologist wanted Preston to be put on growth hormone shots at age 13. Laura strongly disagreed and felt that nutrition was the answer, and the genetic specialist and neurologist agreed. So, the solution was a feeding tube. Laura calls it the “Best blessing!! Love it.” Preston has been doing much better and has not had to use medication.
As a mom, she also has to be aware that Preston has a very high pain tolerance. Knowing this is important when your child is doing anything where he might get hurt.
Parents can be amazing advocates and it is our responsibility to be educated and to pay attention. This is an excellent example.
Preston Is One Of A Kind
I hope that when you think of Preston that you think about how truly wonderful he is.
He finds the humor in EVERYTHING. Preston is extremely tuned in to when someone is sad or upset. He is loving and is very aware when someone likes him or is uncomfortable by him. He is smart but loves to pull the wool over his teachers’ eyes, not working for them unless it benefits him.
He is one of a kind because he is THE example of chronically awesome: he is joyful. I am happy to have met Preston and his family today. I only hope that I have done him justice, this day that we honor and celebrate those with Rare Illnesses. On this day that those who are responsible for researching and looking for cures and treatments for rare diseases should talk to Preston and ask him, “What is it that makes you so happy? What is it that makes you want to make others so happy?” And then, send those researchers to work with the joy in their heart that Preston most certainly will fill them with.