You are here: Home > Grace, Random Thoughts > 10p15 is Not a New Type of Star Wars Robot

10p15 is Not a New Type of Star Wars Robot

Clearly, I spoke too soon…Dysmorphology was able to round up some literature for me on Chromosome 10p deletion.

Here is some background in case your were wondering.  From my understanding, there are just over 50 people who have been recorded in the world as having a chromosome 10p deletion of some kind.  25 have been published.  A “pure” 10p15 deletion is what they say Gracie has.  P stands for “petite,” meaning the short arm of the chromosome holds the deletion.  There are 5 recorded cases.  So at this point we realize that it is so rare that any findings may or may not end up symptomatic for Gracie.  The scary part for me is that she fits so perfectly into the symptoms so far.

Let’s talk symptoms:  low birth weight, difficulty feeding, hypotonia(low tone muscles), plagiocephaly, delayed baby milestones:  rolling over at 8-10 months(Gracie is rolling very well in one direction.  She gets stuck under the piano bench on a daily basis), sitting 10- 18 months(if we prop her right we can get her sitting for 5-15 seconds…wahoo), walking at 2 years, first word at 3-4 years old(This is like Annie finally saying mom or dad, right now.  I can’t even imagine).  As a result, sign language and use of pictures is a recommended means of communication until language begins.

Heart problems, deafness, a thyroid problems are possible symptoms, but haven’t been seen in the “pure” 15 kids so my fingers are crossed.

The children’s learning tends to be delayed by about 18 months.  Seizures happened in half of the children, but could be controlled with medication. Kidneys and urinary tract usually have to be checked because the children’s kidneys are small, missing, or duplex.  They worry about renal failure.  Only some of the kids needed transplants, others just needed monitoring.  The oldest kid they have on file with this deletion is 17 years old.  I’m just hoping that a lot of fully functioning adults out there have it and they have never been tested.  It was this information that finally had me pushed to the edge.  Luckily, Will was there to scoop me up and put me back together.  It’s amazing how wonderful a hug can be!

Now you know way more than you would ever want to know about a congenital disorder that no one has ever heard of .  We aren’t overwhelmed by it all.  We are just now fully aware of the possibilities we face.  As a result, we are hoping to enjoy our family as much as possible…to enjoy Grace, Annie and Hudson.  Whether for 17 or 70 years I want a close, loving relationship with our family.  What a wonderful blessing all of this has been.  I feel my Father in Heaven gently pushing our family together while lifting the burden.  Most days I feel no burden at all.  It’s quite a humbling experience.  Times like this just remind me how unworthy I am to receive the blessings I get and how deeply grateful I am for them!

 

  • Digg
  • Del.icio.us
  • StumbleUpon
  • Reddit
  • Twitter
  • RSS

16 Responses to “10p15 is Not a New Type of Star Wars Robot”

  1. Emily says:

    Your perspective and outlook are amazing. You and will are amazing parents and great examples to me.

  2. kim miller says:

    You know we all love your family and we think of you often!!! We will be praying for your family…..hold them close and make fabulous memories with them!!! Ps emily is in 6th grade now, wish you were gonna be her teacher!! Zach in 10th and audrey a senior :) wish we lived closer!!

  3. Kira says:

    Your family is in our prayers. Your kids are all so sweet, and Gracie has the most charming smile. <3

  4. gwen says:

    Gracie is beautiful. You are in our prayers, and you’re right– life is about enjoying the journey and remembering what matters most. And you are doing a great job of this. :)

  5. bryn says:

    Aren’t our bodies just amazing? I find it so remarkable that one little off thing can put the whole body out of whack. I marvel at the great Architect who created it. Gracie is perfectly imperfect. I am so grateful for your example of positivity. I pray that more information will be found and that you will continue to have the positivity through out the journey. We love, support and admire you!

  6. aunt nedra says:

    God knew who he had in mind to send Gracie to. You and Will are special people, how lucky she is. I miss you guys, cant wait to meet miss Gracie.

  7. Julia says:

    Miss you Jess. I’m thinking of you! Gracie is beautiful!

  8. […] are coming down the home stretch to 10 months with Gracie.  She can finally sit up for about 45 seconds!  That’s right, we are ahead of her projected […]

  9. Emily says:

    I was doing a google search on 10p15 deltions and came across your blog. My daughter also has a “pure” 10p15 deletion. If you would like to chat with another family facing this genetic disorder, feel free to email me and/or check out my blog: http://www.homeschoolblogger.com/teachingmisssmartypants

  10. Meliisa Davis, Pennsylvania, USA says:

    Hello, I just found out that my 4yr old daughter has a 10p15.1 deletion. They couldn’t tell me what it meant because they had no idea apparently not a whole lot of research on it out there. we been doing the dr. thing for over a year now. She has Radioulner fusion of both arms (her palms don’t turn up) she has also been diagnosed with adhd, communicative disorder, Pdd-nos (Autisim) she has no reflexs in her knees or ankles and now the 10p15.1 deletion. When she was born she weighed in at 5lbs 8oz, she has a malformed ear and had a cyst on her kidney, the cyst is no longer there, and when they drew her blood the first time when she was born it lookled like chocolate syrup, something to do with the sugar but it corrected itself. I guess I just wanted to let you know that there are others out there with your anxiety and worries for your child. I guess look at this way every milestone is something to celebrate and as long as she is smiling and happy don’t let the other stuff get you down. I have a 4 year old trapped in a 2 year old mind but, she is the most energetic, bubbly happy little girl you would ever meet. You just got to let your little one go ahead and be different and just do it her own way in her own time. HUGS from Pennsylvania

  11. Jacinta Sherlock says:

    My son Jamie was “finally” diagnosed with 10p15 deletion two years ago – he will be 19 on the 5 November 2012……it has been a very lonely journey…..and continues to be so as I have not had any contact with any other parents. Jamie is now ready to leave school and the future is very worrying. ~However on a positive note he is a very kind, caring and happy boy…..
    Jamie had speech delay, didnt crawl, walked at 19 months, underactive thyroid, complex epilepsy, learning difficulties, some challenging behaviours.

    Really hope by leaving my email I will hear from some other parents….Thanks

  12. Devon says:

    We just found out on Friday, that my son (2 years old) has a 10p15.3 deletion. I came across your blog when doing some research. There is not much info out there. We have to wait 2-3 months to see a geneticist :(. I am happy to finally have some answers, but worried about the future. Thanks for sharing!!!

  13. Tara Baker says:

    Here is my daughter’s story. She is now 16. She was born healthy at 7 lbs 13 oz.. She started having infantile spasms at 4 months old and had intractable epilepsy for the first 17 months of her life. Failed all drugs,the ketogenic diet, and a miracle from God finally stopped seizures. There is still no explanation for her seizure onset and severe delayment. She is non verbal, severely autistic, incontient, unable to care for herself but is ambulatory. She is very sweet, loving and smiles a lot. Thank God. She had every test possible with negative results. At 7 months old she did have a stent put into her right kidney tube. At 10 years old one of her genetic test came back that she was missing a small piece of 10p15.3. The geneticist said he didn’t think it was the cause of her problems. Her father also came back with the same missing piece and doesn’t have any problems which is why they don’t believe it has anything to do her unknown diagnosis. This is the first time I have come across anyone else with the same missing piece. You may email me at tararbak@yahoo.com Thank you!

  14. Melissa says:

    My son has same deletion. He will be 5 in October. Would love to share info. Seems not even experts are able to help…

  15. Larisa says:

    I came across your blog while doing research. My daughter has also been diagnosed with this disorder, her ZMNDY11 gene has abnormalities. She is 24. Her mutation is de novo is and the gene over expresses. It has been a long wait for answers.

  16. jessica says:

    Hi I was doing research to see if anything new had been published regarding my son’s chromosome deletion and came across your site. He also has a 10p15 deletion. I am not sure if it is “pure” I have never heard that term before. His is 10p15.3. He has no other deletions or duplications. His facial features are very very similar to your daughter’s. I would love for all of us to connect to see how our children are doing and compare things that might be related to the deletion. My son is 6 years old. Please feel free to contact me. Other people that have posted on here with children with this same deletion, also feel free to contact me via email luciddreamer17@gmail.com.