Triston

October 28 2003

 
 

Diagnosed
"Deletion 9q31.2-q33.1"
http://www.chromodisorder.org

Triston's story

Upon the 7th month of my pregnancy I was very uncomfortable with Triston in the womb. My back was always in much pain as something was always putting pressure on my sciatic nerve. I could not be comfortable in any position and did not get much sleep the last few months. It almost felt as if Tristons feet were stuck up in my ribs.

My Doctor Induced labor for me 1 week prior to our due date due to the pain I was having. After aprx. 8 hours of labor on 10/28/03 my sweet baby's life was gifted to me.

However, right away things did not go so well. The cord had been wrapped around his neck twice. It was to tight to lift so it had to be cut off.

Baby Triston was not behaving a typical new born as he was very quite and would not cry. Not one whimper. Not one sqweek. His breathing, due to the cord being around his neck, was very slow and shallow. They examined him immediately. He was born 6 lbs 3 oz, in the 3rd percentile. He was just a tiny little peanut, but with so much hair you would think he was wearing a toupee! it was very adorable.

Tristons breathing was not improving nor was he any closer to crying. Soon after we then also discovered he was not feeding (we elected to bottle feed) or sucking on his own either, if you will. I could feel the nervousness of all the staff within the room. I was still unable to hold my new son for the first time.

While he was being examined I glanced over to see the miracle of life I created and got very frightened and began to scream & cry shouting "Oh no, oh no! Look at his feet. Whats wrong, whats wrong?!"

Tristons feet were curved, deformed if you will, in the opposite direction as you would find club feet.

'It really had to have been those tiny feet that were lodged up in my ribs for months', I was thinking. 'No big deal, right, all he has to do is get some room and stretch those suckers out and he would be just fine'...Just fine...Just fine...Just a few minutes everyday, I am back in that room with the ecco of those words running through me. 'Yes, he will be just fine'. After that moment, the almighty power of "Destiny", proof of that no matter how hard you wish, you can not change what has already been written in the stars, shined its unbeatable truth onto my life, in how I can only explain it as a fog, because once it hit, I lost time, with wide open eyes.

At that point they had my son wrapped up and took him right away to the NICU.

I felt so helpless and so alone in the labor and delivery room with no baby in my arms.

Triston remained in the NICU for about four hours until this breathing was stable and he was sucking on the bottle on his own.

At long last I got to hold my precious son, Triston. He was a miracle and a gift from God.

Triston did suck on his own, however not very well though. He immediately preferred a specific kind of nipple, that would later be with us for an entire year.

While in the hospital a pediatrician came over right away to take a look at his feet. Indeed there was a foot deformity and she recommended and referred us to an Orthopedics when we got home.

In the mean time, Triston had a hard time keeping his formula down and would spit up constantly. Almost his whole feeding session so it appeared he didn't keep anything in his tiny tummy.

We were still released from the hospital on schedule

But...

Unaware, we had just carried out a child that would remain in Scientific Medical History forever. Whats distressing is, looking back to this day - realilzing; so were each and every Doctor.

The first year for Triston was very very rough and my heart goes out to him for his perseverance. The first year Triston did not eat well at all. We always had a problem with keeping formula in him and getting him to burp. Sleep was not a friend of his either. Triston did not sleep. Almost as if he couldn't because something was bothering him as he was very fussy and hard to comfort. He arched his back and cried all the time.

Tristons Pediatrician realized a few things were going on, but not just right away. At just weeks old he was diagnosed with Chronic GO Reflux and was put on Medication for an entire year. We also had to switch formula to a non milk base. He went on Nuetramigen. Which worked well but was so very expensive. We also had to prop Tristons crib mattress up at an angle to help prevent acid from coming up. He was sleeping a little bit once the Med's and new formula started kicking in. But still overly fussy and not a lot of sleep. Maybe "Just a fase" ... Maybe.... They kept telling us.

After months of evaluation on Tristons feet with his Orthopedics Specialty Doctor, he was diagnosed with a foot deformity called Congenital Bilateral Abducto-Valgus, secondary to Congenital Vertical Talus Verus and Oblique Talus. This - this - THIS, was not caused by feet being lodged up in ribs. Where did 'this' come from? How? Could all these things he was going through health wise be connected in anyway? No one seemed to have that question then. No one.

At six months of age, both Tristons feet were casted in hope to correct the direction of the bone growth. The cast went from his toes all the way up to his upper thigh. Mobility was just not an option until he got more strength in his legs and learned how to maneuver in them. He remained in the castings for nearly 6 months. Once the casts were removed finally the Doctor felt the feet were starting to go in the right direction and would then place him in Bilateral Straight Last Shoes with a foot abduction bar similar to, but slightly different from, those used for children with a club foot, to promote the correct growing direction.

Due to the castings, when kids were sitting up Triston was just rolling over. When they were crawling he was sitting. Them walking him crawling. Triston did not take his first step alone until he was 18 Mo. old. He was very behind the rest of the children his age.

Really, Due to the castings, was 8 months of over looked, sever mental development growth, disguised by the easy 'idea', "it was because of the casts". How was anyone supposed to know this? God was not ready to release his secret .. just yet.

He also was not growing as quickly either which alarmed me later than soon. He also still had a very very small head that was not even on the charts yet. At 6 months old, Triston was easily mistaken by others as a new born baby.

He was not where he should have been with babbling and head control, eye contact and so forth. Still always crying and almost looking to be in pain all the time.

We had him re evaluated for this constant fussiness. It was a finding by the doctor that Triston had an ear infection in both ears, which had gone undetected all this time because his ear canals were so tiny Doctors never really could get a good look into them, just would send us home saying "We'll get a better look at them next time, seems for now to be ok".

So now along with "Maybe" we got to add "O.K." to our vocabularty relating to our sons well being.

Once the infection was found, we got some medication for him, had hopes for him to get better. Instead, Triston was in and out of the Doctor every other week for constant chronic double ear infections. Finally it was decided by the Doctor that Triston was going to need sugary to have PE tubes placed in his ears. It appeared his ear canals were much smaller that what they should be, most likely causing the longstanding history of Serous Otitis Media.

We thought finally we found the solution to Tristons pain and crying.

We were anything but correct.

But, adding to our Medical Professional list of Terms, "Most Likely".

Finally, out of my own pain of watching my child suffer, I took him to Children's Hospital and demanded they find out what was wrong with my baby. And if anywhere in their explaination was; Maybe, O.K. or Most likely I would devote the rest of my life making sure their Medcial Rights to work as a health care professional would be revoked!

At this point he was emergently diagnosed with Chronic Constipation. I don't know how we missed that one. Poor little guy was placed on continuous powder med's to elax his stools. With out the medication he would go days with the constipation and pain. When time came to pass a stool it would be so very painful for him and he would need our assistance. His bottom has been so torn up because of this and bleeds with passing stools. As a toddler, because of this, Triston has hemorrhoids.

Things went well for the next month or two with the crying, feeding and potting.

Still something was still not right. I had the intuition of a mother. I watched my baby day and night and started learning that he was not developing at the rate he should be with further vocal skills. He could not understand the same toys and concepts as others his age and he often just liked to seclude himself.

Babies love to be held, sang too and rocked. But not my Triston. I just wanted to hold him tight in my arms and whisper to him that I was there for him and peacfuly watch him fall alsleep, safe, in my arms. He would not let me cuddle him, embrace him or rock him.

I felt I was failing as a mother - I mean, how do you give security and comforting to a confused baby that was in pain, when only attempting to cradle them, caused more termatic out breaks. I didnt know how to help my child. This is the weakest feeling I have ever known.

Around one and a half Triston was still not talking, as a matter of fact the few words he had picked up -went away. Almost as if he lost them. He was very into the T. V. and was very particular what he ate. I noticed that an average toddler would grab a hand full of peas at feeding time and shove them in their mouth - Triston however, picked one little pea up at a time and placed it in his mouth.

I could not believe it, but I at this point knew I was seeing signs of a child with Autism. My family kept telling me - NO NO NO you are imagining, stop worrying. As all mothers reading this right now can say, you can never just stop worrying about your child!

I kept on the Doctors and kept on them, as they didn't want to listen to me and my year and a half of concerns. Finally, when Triston was so far delayed in almost everything posible - they finall saw what I could see.

Triston was referred the Early Childhood Intervention in our local school district. There they did a series of testing on him and gave him an educational diagnosis of Autism Spectrum Disorder. At the same time, his blood work was just coming back and showed a deletion in his ninth Chromosome. We were referred to a Geneticist right away for detailed study.

God finally set free his secret after two long struggling years.

Tristons official Karyotype is 46,XY,del(9)(q31.2-q33.1). His chromosome disorder is so rare it does not even have a name yet and he is the only child in the world with it.

Over the last three years the following are findings in Triston that relate to this disorder;

Persistent Microcephaly, Prominent Perivascular Spaces in both cerebral hemispheres of the brain (most pronounced in the parietal lobes), One Pituitary gland felt to be at the lower limits of normal, Developmental Venous Anomaly in the cerebral hemisphere of the heart, Disorder of communication, Bright Blue Iritides with short palpebral fissures, prominent nose with a prominent broad nasal bridge, short philtrum with a thin upper lip, high arched palate (no evidence of clefting, normal uvula), relatively small widely spaced teeth, prominent chin (no micrognathia), posteriorly rotated ears (otherwise normally formed), 1/4 systolic
ejection murmur that varies with respiration, hypoplasia of toe nails, slight clinodactyly of 5th fingers bilaterally, simian crease on the right, very little expressive speech, decreased tone centrally but increased tone distally particularly at his ankles, generally hypotonic, DD (substantial deficits in all areas, language development, personal living, strength in gross motor skills), PDD NOS, Autistic Spectrum Disorder, behavioral syndrome NOS (elevation in somatic, withdrawn, attention problems, aggressive behavior), clinically significant elevation in areas of pervasive development problems, ADHD problems, & oppositional defiant problems, borderline elevation in areas of affective problems, scores less than or equal to 15th percentile in vocabulary development.

Triston, at 6 years old today goes to Special Education School 5 days a week and speech therapy 2 days a week and OT. He is on his third set of PE Tubes in his hears and can only say about 30 words in non sentence form.  He was just potty trained last year, where’s his own set of glasses and has yet slept through the night.

Yet He laughs and plays like the world is his oyster, and you know what - it really truly is.

In our lives we try every day to protect our children to teach our children and to love our children.

Never once thinking that this whole time it was Triston who taught me the most important thing that I can never again live with out. And that is to have Faith.

As there is no prognosis, Cure, or life span for my son and the future is unclear, we still close our eyes each night with warmth in our heart.

A Doctor did not get us here, it was by having Faith that carried us to this very moment, allowing me to share with you fine people of the world, one more story, of one more day, that I got to spend with my son, and see him smile and brighten the world - just a little bit more than he did yesterday.

His sister Kayla, 11, likes to call him "T-T" and his Grandpa calls him "Bugzy". I call him..... simply precious

Thanks for taking the time to read our story!

Contact: Chris mom to Tristan at  cleonzal@aol.com  

Any troubles with e-mails send to swanusa@undiagnosed-usa.org