Thursday, January 19, 2012

Finn and Trisomy 9p

Today I want to share as much as I can in the time that I have about Finn's syndrome.  This is going to be a long post, but I hope it shows that I can relate to many parents that have children with multiple issues from a mild speech impairment to cerebral palsy to autism.  I also want people to get to know Finn for all he is and although his genetic condition does not define him, it will always be a part of him.

Although Finn has both a duplication (Trisomy) and deletion of chromosome 9, I am going to focus on the duplication because it is the larger of the two and actually, many of the characteristics are the same.

The syndrome occurred "de novo" basically meaning that neither Dan or I passed down the genetic conditions, rather it occurred spontaneously.  I recall recently we were at a new ENT's office and Dan said that Trisomy 9p is not a popular syndrome and the ENT looked at us and he said you mean common.  He totally didn't get it.  We meant popular.  There is not a whole lot that has been done out there in terms of research.  It is not sexy.  It is not as common as Downs.  It has a longer life expectancy than Trisomy 13 and Trisomy 18.  It seems that researchers are just not that into it.  Most of what I have learned from the syndrome has come from other parents, not medical professionals or outdated research.

How common is Trisomy 9p?  Not entirely sure.  It is said to be the fourth most common Trisomy following Trisomy 21 (Downs Syndrome), Trisomy 18, and Trisomy 13.  I can tell you I know of 2 other individuals in the state of Florida that have T9p.  Life expectancy is good for a rare chromosome disorder.  

Trisomy 9P -
Each chromosome has a long arm and a short arm.  The short arm to chromosome #9 is referred to as "p" and the long arm is referred to as "q."  Trisomy 9p means that all or a portion of the "p" segment has been duplicated so that there are three "p" arms.  Finn has nearly all of the "p" arm duplicated.  The more that has been duplicated the more genes that have been affected.

Trisomy 9P is associated with certain physical characteristics and a variety of conditions.  I am not going to list all of them, but will list the ones we know Finn displays:
  • Feeding issues (improving!!!)
  • Allergies to peanuts, milk, soy, corn and eggs (egg allergy resolved at age 2)
  • Heart defects: ASD and PDA (both resolved around  age 2 1/2)
  • Dandy Walker Malformation which includes hydrocephalus and arachnoid cyst at the base of his brain
  • Atrophy of the mesial temporal lobes of the brain reasing the possibility of mesial temporal sclerosis
  • Hearing Loss
  • Chronic sinus infections
  • Reflux and vomiting (mostly resolved)
  • Mild hypertrichosis of the upper back
  • Teeth late to emerge
  • Eczema
  • Anhidrosis (does not sweat)
  • Simian crease on right hand
  • Valgus
  • Over-riding pinkie toe
  • Clinodactyly (pinkie fingers bend inwards)
  • Ear tag on right ear
  • Multiple urological issues
  • Cupped shaped ear
  • Hypo plastic finger nails
  • Pinkie finger nails grow straight up
  • Low tone and high tone
  • Stomach muscles did not grow completely together
  • Large anterior fontanelle
  • Deeply set eyes
  • Brachycephaly
  • Frontal bossing
  • Ventral hernia
  • Immunity issues 
  • Very tiny ear canals
  • Developed benign tumor in left ear
  • Severe constipation
  • Sleeping problems
  • Global developmental delays
  • Hyperflexible and loose joints
  • Microcephaly (small head circumference)
  • Slow growth
  • Keeps hands closed/has to be holding something 
  • Extremely high tolerance to pain
  • Aspiration of liquids
It is important to note that just with any child, every child with Trisomy 9p is different and Finn is extremely unique in that he has the deletion as well as the duplication.  It is tough to compare or know what Finn's issues will be because he is so unique.

Finn has been receiving physical therapy since he was 7 months old.  We added occupational therapy and speech therapy when he was one.  He received each for 1 hour once a week.  We also had an early interventionist that came by every other week and a deaf/hard of hearing teacher from the school system that came to our house once a week.

Finn started walking after he turned two.  He actually swam before he walked.  Now he is running and he recently started jumping.  Finn can ride his tricycle, climb ladders and small rock walls and he loves to dance!

Most of his foods had to be pureed until about 2 1/2 for both chewing and digesting issues.  Feeding was a huge issue and most of his therapy went to feeding.  Finn held his hands in such tight fists that it was strongly suggested to us to splint them or he would have problems with straightening his fingers for life.  We did not splint them and instead massaged his hands using a hairbrush and using our own hands daily - he no longer keeps them in such tight fists.  We really had to teach Finn to do everything from chewing to pointing to crawling.

Finn wears hearing aids (when we can keep them in) and he wears braces.  Finn also wears a cooling vest when it is hot to help prevent him from overheating.

Finn has had 7 surgeries and unfortunately we know of at least two more he will need in the near future.  He has undergone multiple procedures from a VCUG, EEGs, EKGs, ultrasounds, sedated ABRs, swallow studies, upper GI, to multiple MRIs and CT scans.  We have had to rush him off to get emergency x-rays to make sure he did not have an impacted bowel because he was so constipated he was vomiting.

The awesome news is that Finn is progressing.  We have been able to cross physicians off our list, stop most of his medications, and since Finn is three - he is attending public school - full days - 5 days a week and receiving a head start on his education.

Finn uses some signs, gestures, some words, and is currently learning how to communicate using PECS (the picture exchange communication system http://www.pecsusa.com/).  Speech and language has been the most difficult area for us.  As Finn gets older he is getting more and more frustrated that we don't understand what he wants and we are equally as frustrated.  Some speech is coming though.  Finn is mimicking more and more and is starting to have more spontaneous speech.  He refers to Camila as "na na."  He says "mommy" and "daddy" clear as day and of course "cookie."

As far as intellectual impairment, it is too early to say.   Finn seems so smart in some areas.  He is very good at puzzles, has a GREAT memory, and seems to be a good problem solver.  Finn is extremely friendly and loves holding hands with everyone!  He is a typical three year old boy in so many ways.  His favorites are trains, trucks, Elmo, playing outside, swimming, building with blocks and legos, and books.  Long gone are the days when Finn didn't laugh - today Finn is laughing all day long.


If you would like additional information on Trisomy 9p or 9p24.3 deletion, please visit Unique at www.rarechromo.org.  This organization provides information about rare chromosome disorders.  It was so valuable to me upon learning of Finn's diagnosis.  The organization put me in contact with other parents and provided me with literature on Trisomy 9p and 9p24.3 deletion. 

5 comments:

  1. Very interesting! This blog is going to be a great resource!!

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  3. This type of information is hard to find. Our daughter Marisa who is now 7 has trisomy 9 Mosaic syndrome. She is challenged with many of the same issues but worst. She is still not feeding herself, independently walking (can't balance) or talking. Do you know if hyperbaric chamber therapy has worked for children with this gene disorder? Also can you elaborate a little more on what therapies worked best for Finn. Thank you for any additional information you can provide. Steven and Michele, Louisiana

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  5. I am the mother of a 25 year old daughter w/trisomy 9p. You have done a great job describing characteristics. It is amazing that needing to always hold something in the hands, having a super memory, showing superior skill in doing puzzles, having a high tolerance for pain, and really bad constipation can be common traits! But it is exactly ax you say for us also! Kind regards, JC

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