The Jane Corner

This page is dedicated to our little rose, Jane!  Here we hope to post updates on how she progresses as we watch her growth and development after finding out that Jane has a genetic defect.





Jane is pint-sized (literally) but packed with enthusiasm and a joy for living life!  Jane is 20 months old and was recently found to be missing part of one of her X chromosomes.  What we do know is that the missing piece of X was genetically replaced with Y chromosome.  Thankfully, the portion of Y has no male sexuality genes expressed there.  The next task was to find out which of the 25 missing genes from her missing piece of X may have an impact on Jane's development.  Thankfully, there are only 4 genes that may potentially have an impact.  This is what we found out:


  • Shox gene - associated with short stature. Deletions in this gene are known to cause a genetic disorder called Leri-Weill dyschondrosteosis.  Common features of this are short stature, defects in the alignment of the wrists, shortened limbs, and bowing of the lower limbs.  The bowing is what alerted us to get Jane checked out.  Her lower legs are extremely bowed.  We have an appointment with an orthopedist later this month to formulate a plan for correcting Jane's legs or allowing them to grow and correct themselves.

  • Arse gene - associated with X-linked recessive chondrodysplasia punctata.  This is usually expressed in males, but may occur in females resulting in short stature and short limb growth, cataracts, hearing loss, and abnormal cognitive behavior.  Scoliosis will be the main thing to monitor here since Jane already shows signs of short stature.  She is barely on a growth curve, and her limbs measure shorter than normal for babies.

  • NLGN 4 Gene - increased susceptibility for Aspergers syndrome and Autism.  This needs no explanation.:)

  • Jane doesn't currently show any signs for either of these syndromes, but I will have to monitor her before closely up to age 3 so that she can be assessed, if need be.

  • X-linked ichthyosis - results in dry scaly skin and defects of the cornea.  I'll have to watch her for this, too, and she'll have to have regular eye appointments.
So what does all this mean?  Well, we will have to monitor Jane and wait.  For now, she has an appointment to check out her legs and see how the bowing can be corrected sooner or later at the end of this month.  She has endocrine and opthomology appointments and an echocardiogram scheduled for after the baby is born into May.

Jane is so happy and playful right now.  I can't imagine her any other way.  So, for today, I'm enjoying how truly amazing she is! 

February Update: Jane had an EKG which came back normal. Phew! Now we just have to wait for the other appointments to roll around. She actually had her orthopoedic appt. scheduled for Wed., the 24th. However, with Nick's birth that day, we rescheduled that appt. for April.:( I hate to wait so long, but I couldn't do the only other appt. opening they had in March. It was too close to Nick's birth and during a morning which is hard for us. Next up is Jane's audiology appt. which is scheduled for tomorrow. Hopefully, all will go well!

March Update:  Jane's March audiology appointment went well.  Her hearing is fine! 

Next up was an opthomology appointment with Dr. Silbert.  It was a trying day to say the least as I had all the kids minus one at the appointment with me.  Her next appointment is Monday so I have to begin dilating Jane's eyes with atropine starting on Saturday night. 

Last Wednesday we met with the orthopedic surgeon, Dr. Dahl, at Gillette Children's in St. Paul.  Dr. Dahl confirmed that Jane's legs are bowed more than normal.  He was not concerned with the shortness of her arms.  So he would like to re-xray and re-examine Jane in 6 months (October) in order to see if the bowing has changed for the better or worse or has remained the same.  By that time we'll know better what course of action to take with the legs in trying to straighten them.

Meanwhile, it's becoming evident that Jane is a shorter kid.  Since the next little generation of babies at the parish is starting to walk, parents are now asking more frequently how old Jane is.  The other 2 year olds are now about a head taller than Jane and the younger babies are catching up to her.  Sigh!  We'll just keep hoping & praying that Jane continues to grow toward God spiritually and physically as He wills.

November 2010 Update:  Today I took Jane to a follow up appointment with the endocrinologist, Dr. Abuzzahab.  We headed over to Children's Hospital in St. Paul to be there by noon.  Jane was a star and stood up so straight and tall to take her 3 measurements.  Dr. A was very pleased with Jane's growth.  She opted to wait until Jane is either 4 or 5 years old to start her on growth hormone injections.  I was a little shocked by this as I had thought Jane would only need injections whenever she has a growth spurt. Dr. A corrected me saying she will have to have 1 daily injection until she stops growing.   That could be when she's either 14 or 15 years old!  I can't imagine having a shot every day for the next 10 years!  Daddy and I are trying to wrap our heads around this as it will be a big commitment.
Next week we meet with Dr. Dahl, the orthopedic surgeon.  He will measure the bowing of Jane's legs to come up with a plan for correcting the curvature.  Hopefully, he sees improvement and not stagnation or worsening.  It would be nice not to have to put braces on the legs or pins in them.  That would be a lot for such a tiny kid and a lot for a Mommy to have to deal with emotionally.:(  Please pray there is an improvement in Jane's legs.  Thanks!

November 2011 Update:  I am elated!  I wish I could post the X-ray pictures that were taken at Children's Hospital of Jane's legs.  They are markedly improved!  The bowing is straightening out.  I can't believe it...thanks be to God!   Dr. D has agreed that Jane is growing nicely and that the bowing is correcting itself.  It was amazing to see her tiny toddler body a year ago in comparison to now.  Incredible how she thinned out and grew!  Now we'll see what Dr. A, the endocrinologist, has to say.

Dr. A is very pleased!  She said that if Jane's growth continues to steadily increase we may be able to forego the growth hormone injections!  Thanks be to God!!!!  Jane is on the growth curve.  Even though she continues to be shorter than most children her age, she is still growing and the growth curve shows that.  So, Dr. A is hopeful that Jane will not need the injections.  I hope that her growth continues.  If she plateaus, we will revisit the injection schedule.  Please keep Jane in your prayers.

March 2012 Update:  I can't tell you all how good it feels to buy shoes and sandals for Jane at a bigger size and see that she's growing out of her clothes.  I rejoice in so many of the little things I took for granted with the other kids.  One thing that does bring me a bit of sadness is seeing Nick almost catching up to Jane in height and size.  He's only one shoe size smaller than Jane!  He's almost as tall as her.  Yesterday I saw her standing next to a little girl two years younger than her, and they were the same height!  That was hard to swallow.  But I must look on the bright side.  Jane is STILL GROWING.  For that I am so grateful.  It's the little things with Jane....literally!  Thanks for the prayers everyone.  Please continue to pray if you can spare one.

November 2012 Update:  Thank you all for any and all prayers you've said for our little Rose, Jane.  We received the excellent news that Dr. D, the orthopedic surgeon, is discharging Jane!  He will see her as needed in the future, but on all accounts her legs are correcting themselves from the bowing.  With that news, we had a follow up visit with the endocrinologist, Dr. A, to see what or if we should do anything about Jane's growth.  Dr. A concluded that Jane is still growing at a steady rate.  Therefore, she will not need Growth Hormone injections at this time.  Dr. A would like to see Jane in 2 years to assess her growth.  An X-ray of Jane's hand was taken to measure the growth of the bones in the hand. So far so good!

The next big hurdle will be corrective eye surgery for Jane to correct her lazy wandering eye.  After 3 months of patching, we managed to improve the vision in the left eye more than in the right.  So we over corrected!  However, in spite of the patching, her left eye still wanders.  The opthamologist suggested he surgically shorten Jane's eye muscle to correct the drift.  He assured me it is a simple procedure, should be done within a day, and has a very fast recovery of 1-2 days.  Sounds easy-peasy to me!  We will look into this for next year.

So thank you all for the prayers for Jane.  She is doing very well attending preschool 3 days a week, learning to write her name, and growing!  It's been a very good year for her...for all of us.

June 2013 Update:  Jane had corrective eye surgery for Strabismus on June 11th.  It was a very simple procedure that took about 45 minutes so we were home by noon that day.  Today I took her in for her post-op appointment.  Dr. B was very happy with Jane's eyes.  She has marked improvement in the vision in her left eye.  There is still a bit of a tilt inward that makes Jane's eyes look crossed.  The eye should self-correct over time, but it could be months.  However, Dr. B is very happy with the quality of her eyesight.  For now, I'll take that!

Also, Dr. D discharged Jane from his care of her bowed legs.  He felt that she was making significant progress and the bones are straightening.  Dr. A also gave her the green light on seeing her again in 2 years!  That means no growth hormone injections yet!!!  I'm super pleased that Jane continues to progress in size and stature.  She did very well on her readiness testing for Kindergarten....like I was surprised (eye roll!).  And we received free tuition for all day Kinder in the same Spanish Immersion Program that the boys are in.  Now we have to wait and decide in August whether to send her to Kinder or wait a year.  Either way it will be great for her to be with her 2 big brothers or in Pre-K with Nick.  It's a win-win!

Jane...the Dancing Queen!

Jane and Nick at the Guadalupe Mountains, Texas

Jane's 5th Birthday







4 comments:

  1. Grace, we will keep you and little Jane in our prayers that she will grow to be the beautiful woman that God intends for her to be. What a great family she has been given!

    ~Dayna Francis

    ReplyDelete
  2. Just met you through our PHFR picture posts! Already feel kindred with our children (one of mine has cystic fibrosis, maybe 2. Baby #7 due in a few weeks.). And I'm going to look around to see if you've posted about no sugar. I just don't know how to replace it...
    Warmly,
    Allison

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  3. I have a few posts on sugar abstinence. I've found that friends have tried using honey, stevia, xylitol, and just plain given it up. Thanks for stopping by.:)

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  4. Thank you so much for your comment on my blog! I am very happy that your little Jane is going to be able to avoid GH shots for now and hopefully forever! My middle daughter is a tiny kid- a head shorter than her peers, but hanging steady at the 3-5%ile range. Little Roslyn on the other hand... well... somebody needs to be the squeaky wheel in the family!

    ReplyDelete

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