Luke Mengel

 Luke's story; Written by his Dad Saturday; December 15, 2012

Here is a lovely story of a child diagnosed with Mosaic Trisomy 13 in his teenage years. I hope that this story will bring faith and encouragement of survival to many parents facing a difficult diagnosis. 
  

Every tomorrow has two handles. We can take hold of it by the handle of anxiety, or by the handle of faith.- Author Unknown

 

 Luke was born on Thursday June 30th, 1994 in Rio Rancho, NM.

My beloved wife Linda came into the living room saying she thought her water broke. "It's too soon!"... seven weeks too soon. We had had a difficult pregnancy, this one a surprise. We had at the time our two other sons, then 13 and 11.We had been worried about all her swelling and water weight, she was very uncomfortable. Doctors had wanted to do an amniocentesis but we decided not to do this as we were determined to keep what God had given to us to raise, and there were risks to the baby. She was 39 at the time and the doctors were concerned about the baby..

We rushed to the hospital, Luke was born within the hour. He came in at a solid 2 lbs 12 oz! Such a tiny life God had given to us. Our other 2 sons came in at almost 9 lbs (despite my petite wife! she was just shy of 105 when we married ). At the same time, my wife's liver shut down... they rushed Luke to the NICU and my wife to another room. I was shuffling between the two.. did not sleep very much for 2 days. My wife stabilized 2 days later, her liver was recovering. She had had pre-eclampsia toxemia.. She had not held Luke yet. Luke was in the NICU on oxygen.. he was tiny! He was shaped differently than our other two boys. His feet were oddly shaped and appeared to have big toes that were definitely different.. He also had a tiny sixth digit on his right hand just adjacent to
his pinky. His head was different (still is!) but all the rest of his parts looked normal. He was breathing on his own but needed some help with oxygen. Other than that he was just tiny..

We named him Luke after the Dr. Luke in Scripture. The Nurses called him Luke skywalker.. the nurses were wonderful. For the next 44 days we watched Luke prosper.. my wife was pumping milk into hundreds of tiny bottles.. Luke was being fed  for the first week or so by gavage along with the tiny bottles.. later came my wife's breasts after Luke got a bit stronger. Luke's doctor (neonatologist) was a homeopath and we did nothing very special with Luke other than hold him as much as possible
and feed him whenever he wanted.. he needed to grow!

44 days later we brought Luke home on oxygen and a long tube.. He was a solid 4 lbs. We treated him like we did when the other  two were young..as a growing precious son. None of our boys really slept through the night for 2 years.. Luke was no different, but had to be fed much more often. He began to grow.. but at a different rate, way off the chart.. but following the shape chart for the most part.

Luke began to crawl (very odd crawl using his head as a balance point, he wore the hair off his head where it touched the floor..) very late and began to walk (wobbly) at ~15mo... and babble.. he was trying to talk but few could understand him.. but my wife. Luke was breast fed for over 2 years..

Luke grew slowly, at 2, because of my work, we moved to Virginia. Linda began to see that Luke was not progressing like the other 2 boys.. and was concerned about his growth and boy! was this kid wound up... he never stopped... She called the School System and they suggested a visit by an Early Intervention speciallist. Luke began pre-school, kindergarten, and then 1rst grade (twice). IEP's started. Preliminary Psychological exams showed Luke was MR (Mentally Retarded (old term back then), Intellectually Delayed ). They wanted him in an MR class.. we fought this with the School system and had Luke mainstreamed.. This was a boon! Luke learned, albeit slowly... we worked with Luke extensively on his school work EVERY day..

...skip several years... Luke went through Elementary, Middle School and First year of high school...) Luke was passing his SOL's, played soccer, played the trumpet (mainly by ear..)... BUT was almost always socially inept and mercilessly picked on (he was still VERY small). And extremely active... he was also very moody.He had great difficulty in crowds and in social situations. We could never have company at home as he acted out all the time. Because of his activeness his pediatrician and several psychologists thought he was severely ADHD.. Luke was on Concerta for over 8 years.. there were side effects, anger etc.. He also stopped growing. 7th grade. We went to endricrinologists.. nothing we can do..something in his genes, Luke will always be the height he is for the rest of his life (almost 5 ft tall). Luke began to get into trouble at school, was very angry all the time and
began to do very odd things.

June, Summer of 2011. Luke just out of his first year in High School. He wrestled in the 112 lb class (because he was so small). He really never won a match.. but gave it his all! He moves very stiffly.. Because he was the only 112lb kid and wrestled varsity, he actually lettered. HE also marched in the marching band playing trumpet.. but he was socially inept. Kids still picked on him and he struggled to be part of any group he could get his head into.. Long story short.. he became extremely unstable Mentally and did very dangerous harmful things and acted in bizzare ways...

In June of 2011 Luke was admitted to a Child and Adolescent Psychiatric Unit and then a residential school where he continued High School. He was diagnosed with severe mood disorder NOS. The doctors did not know what to do with Luke.. he was not responding to any of the psychotropic drugs, and None of the cognitive therapies were working.. One of the Psychiatrists noted that Luke "looked" odd and had a notable childhood.. he suggested we try to have genetic testing done. In Sept of 2011, after a long wait for an appointment we had Luke tested at the University of Virginia Genetic Lab. A month later tests came back showing several genes had issues... they wanted to sequence
more and requested another blood sample from Luke in March of 2012. Note: (Getting Luke to and from the appts was a real nightmare) After the second testing late in March.. we got a frantic call from the Genetics lab..

Note: I then worked for the University of Virginia as an IT Systems Director...

Ring.. ring... Hello? "Mr. Mengel, this is the Genetics Lab. We have some unexpected results from the testing, we need to see you on Monday.."My mind is running...This was an alarming call as normal results take 5 -10 weeks to get the results.. and appointments took months... and they wanted to see us on Monday!? What are the unexpected results? " We will tell you this on monday.." Can't you give me some idea? " Well... long pause.." We have found an unexpected result and have run the tests twice on both samples of your sons blood..." long pause.. " we have found your son has genetic
disorder called Mosaic Trisomy 13, we will explain this to you on Monday. Do NOT bring Luke."
Ok.. thanks... my mind is racing.. what the hell is Mosaic Trisomy 13.

So, I'm an IT guy.. I search for "Mosaic Trisomy 13" .. With tears in my eyes and a shaky voice I call my wife.. shocked. I could not work.. I packed my things and went home.

Monday, we met with the Geneticist. They had neglected to run a simple Karyotype test as a base line, this test was run several times on at least 2 blood samples months apart.. as they could not believe the results. They indicated that they had never seen a LIVING 17 year old with Mosiac Trisomy 13 and that Luke was especially rare.. We were told it is not our fault. It explains ALL of Luke's problems..

I called Luke's Psychiatrist at the Treatment Center to give him the news.. Doctor, Luke has been diagnosed with Mosaic Trisomy 13. "What! No, this cannot be correct..." I said: Here is the Doctors number.. please call her. .... He called and recognized that there are things he did not know..

We had extensive Cardiologic exams..after this devastating diagnosis. Luke is completely normal. Luke is currently awaiting MRI testing. His EEG's show some abnormalities.-

Luke was on almost every psychotropic drug.. except one.. that they were afraid to begin. Luke did not improve, but exhibited ALL the massive side effects of these drugs.. We learned the hard way that Psychiatrists were just making educated guesses as to what "might" work.. Well, just at the tail end of Luke's stay at the Child Adolescent Treament center, they tried the LAST drug.. Lithium. It worked!

Today, Luke is at a special school called Grafton School in Berryville Va. We had to move him there after he turned 18 (we obtained guardianship through the courts). He is somewhere between a Sophomore and Junior in High School.

Also, of note. At Grafton the Psychiatrist, more of a progressive sort. Had us participate in a pilot program called GenoMind to see if we could refine Lukes medication regimen. She was also weary of Lithium.. The tests confirmed that Lithium was the ONLY drug that could have possibly helped Luke ... wow.. (see www.genomind.com).

He has not been home in over a year.

We will be trying to bring home Luke for Christmas this year (2012)! We tried last year too (while he was in another Residential treatment Center)
but it did not work out.. Luke melted down and ended up back in the hospital. NOTE: I have much to say about the treatment of those with Mental Health disorders.. something is just not right in this world we live in..

Anyway.. We are joyful that God has given to us this son. Sometimes this joy is painful (I don't know how else to say this).
We do not think that Luke will ever be able to come home full time any longer.. but have high hopes that he can learn a vocational
skill and live in a group home where he will prosper. He is a living Angel! God has special things in mind for Luke!

Hope this helps someone here.. these Angels do live!. We would be willing to talk or correspond with anyone.

I am becoming very active in NAMI, ARC of Virginia, Mental Health Association of Fauquier County, Department of Social Services... various School related concerns.. I am a Parent Advocate. I support agencies that help people with needs obtain resources like the Virginia Office of Protection and Advocacy (VOPA). I am also 56 years old.. We are on the medicaid id waver wait list.. Obtaining services is a REAL problem.

May God bless all those with Angels! Both living on this earth and those with God.

Guy and Linda Mengel ( guy@eastroad.org )

You can see many of our family pictures here: http://www.flickr.com/photos/bombadillo


Summary: Luke: Age 18
Mosaic Trisomy 13
Hearing impaired both ears
Slight Deformities in feet (rocker bottom, toes overlap)
Mildly ID (68)
Severe Mood Disorder (NOS) organic

We hope these stories of children with trisomy will inspire you. From cleft lips to contagious smiles, group of families are here to offer you support as you begin your trisomy journey. It seems we only hear of the problems that come with a child having Trisomy . There is so much more to these sweet lives. Each day the living children bring joy to their families as they accomplish simple tasks or reach a milestone, the angels remind us that life is short but a blessing all the same and they will forever be engraved in our hearts. Be sure to check back for our next story or update and until then....Embrace life one moment at a time ~  Vanessa

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