Monday, February 29, 2016

Rare Disease Day 2016

Just a little over 12 years ago we heard the diagnosis of Peter's Anomaly.  Back in 2004 there was ONE entry on the Internet about PA.  That entry told nothing.  The National Organization for Rare Diseases had a mention of Peter's.   We occasionally were handed photocopies from various doctors' books but they were lacking in details also.  Most of the doctors including one geneticist had to ask me what Peter's Anomaly was....It was a scary time. 

Today I read this article http://www.wonderbaby.org/articles/parenting-child-rare-disease and it brought back so many memories. 

I can remember thinking "Why couldn't Sam just have Down's Syndrome?"  Then at least we'd know what to expect! 

Still there is little info on Peter's Anomaly, but much more than there used to be.  We've personally met four other families now with PA- there is a FB page/group but PA is different in every case and every child.

If you would have told me when Sam was tiny and in the NICU that one day we'd all travel to Ukraine and adopt a little girl with Peter's I would have thought that you were crazy LOL!  But that's exactly what happened! 

Sam and Sarah both have PA but are different.  Sarah was only born with one eye and it was in much worse condition than Sam's.  Her eye had many more abnormalities than Sam's does and at her best, she saw light only.  Now her retina that was "in shreds" has detected and she sees nothing. 

Sam was born with two eyes- both smaller than normal and one was very smaller.  The smaller eye has had many more issues than the other eye.  We did transplants in both eyes and the smaller eye rejected the transplant within weeks.  We did the corneal implants on both eyes and the smaller eye ceased to function some years ago, also a retinal issue.  In 2013 the implant had to be removed from that eye as it was causing him pain since the eye was shirking but the implant was not.  It was a bit unnerving to look at to be honest.  The implant would somewhat freely move around in that eye.  When the implant was taken out, most of the remaining tissue was too.  It's been challenging but his larger eye is doing great!  This year will be 9 years since he received the implant!  He sees more than light but is legally blind.

Both Sam and Sarah are handicapped intellectually. Neither really talk but they do both understand some of what we say to them- that's called receptive language.  Sam does say Mama and No and occasionally will come out with another word or two.  Both of them will verbalize sounds back and to with us.  There's been a few times we have thought Sarah has said something too. 

Sam can walk, run a little, climb up stairs, go down the slide and swing on the swing set.  Sarah walks with a lot of help.  She can't really figure out where her feet goes.  She can swing herself for hours on the swing set and loves to be outside.

Sam is very mischievous, and loves to be naughty.  But he is also a love sponge and is very attached to us.   Just think of a tiny Dennis the Menace :)

Sarah is very easy going.  She has been home for almost four years and really just started showing negative emotions in the past year or so.  She will cry now if something doesn't go her way.  But she is learning that her cries will get results and that is so good  I love that she can cry now.  The first year she was home, I can only remember her crying two times.  Oh that's convenient  but not emotionally healthy for her.  She still doesn't cry much and is a very happy girl most of the time. 

Sam got a lot of the 'extras" with Peter's, he has a heart murmur, there were concerns about his kidneys for quite a while, and he had issues with maintaining his blood sugar levels. He has some bone deformities and he is TINY.  Sam is 12 years old, he just started wearing a size 8.  But the only reason he wears an 8 is he has a round tummy- 8's are way too long on him and I have to hem everything.  Small statue is often found in kids with Peter's. 

Sarah on the other hand is healthy as a horse!  Once she started gaining weight after we adopted her (at 5.5 years old she weighed just 19 pounds)  she is catching up fast!  When we first got home, I had to put away all the clothes I'd bought her and go buy a few baby clothes.  She wore a size 12 months!  Now 4 years later she wears a size 7/8! She is built thin, like a dancer so sometimes things are too big in the waist but she's catching up there too LOL! 

Not all kids with PA have mental challenges.  We met one little girl from China who is a genius.  But overall, I think the majority have some difficulties in that area. 

I've only met one other child with PA that had more overall issues than my kids and I don't think that little girl lived. 

Now the ODD thing is neither Sam nor Sarah have the genetic marker for PA.  Both have been "clinically" diagnosed with PA which means they have the symptoms, especially Sam.  Both are enrolled in a clinical study through the University of Wisconsin.  The researchers are really interested in Sam since he has so many characteristics of Peter's but it's not in his DNA.  Last year they asked Jon and me to have more DNA testing done because the idea is that there HAS to be another marker for PA than what has been found.  They hoped to find something in our DNA but thus far nothing has come up with any of us.  We don't have the marker either so for Sam it was just a "happenchance"  Sam does have a deletion in his DNA but as far as they can tell that doesn't correspond with PA.  Sarah's DNA is completely  "normal"  as is her MRI. 

Our kids are interesting that is for sure!

So is it scary to have a child, make that two, with a rare disease?  It is but it's ok!  After 12 years, I don't really obsess about the future, at this point, we figure we will deal with whatever comes our way. 

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