Tuesday, February 8, 2011

Wanting a place to "fit in"

I am surrounded by incredible family and amazing friends and people who would do anything for my family.  But I'm lonely. I want a place for my kids to fit in.  I want to have a specific name, explanation, foundation, for the "funk" my kids have.  I am not sure why it's so important to me, it just is.  Oh, I know plenty of people with special needs kids, but they all have a label, an explanation.  Sometimes I just want to talk to a parent who has exactly what my kids have.  Sometimes I want to talk to someone who has both of their kids with the funk.  When I'm feeling all boo-hooey because neither of my kids are "normal", I want to talk to someone who is in the same boat.  And I am not sure why I want that so badly, I just do.  I don't need anyone to fix my kids - I just need someone who gets it because they are right there with me.

So we have been on a 9 year quest to figure out what is up.  It started with Zach when he was six months old and it continued when Ryan was labeled with low muscle tone and 12 months.  We've done tens of thousands of dollars worth of tests (thank you, Blue Cross/Blue Shield and Aetna!!).  We've seen numerous specialists including a metabolic geneticist who conferenced with us and a metabolic neurologist. 

I'm beyond the point of fixing my kids; I've moved on to helping them fit into this world and be boys filled with joy.  But I'm still willing to pursue the name of their funk.

Last April we did some pretty cool x-linked mental retardation tests.  We had to go to great lengths to get the blood drawn and sent to a lab in South Carolina.  I even had the perfect excuse when I mess up... I'm half-retarded.  I found out today that they came back normal.  Yep, once again, my kids are declared "normal".  If you know my kids - you would find that as funny as I do.

We also did a second chromosomal microarray analysis.  I haven't heard the results because the pediatrician didn't send them to the geneticist.  But I expect them to be normal as well.

Anyway, today we visited our geneticist and she examined the boys and shared her thoughts.  Basically, there is so many new syndromes being introduced on a monthly basis.  New DNA tests are being created monthly and old tests are becoming more effective.  She told me that two months after our last microarray analysis, they updated it!  (It is kind of neat to see these evolve - we did the very first type four years ago.)

She pretty much ruled out x-linked syndromes and is now refocusing on autosomal recessive syndromes.  (If you remember your Punnett Squares from high school biology you will remember that in order to have the recessive trait, both parents have to contribute the recessive trait.)  I am not sure of specific syndrome names, but she did mention retesting for Fragile X.  She said the boys have the hallmark traits even though the previous tests showed they didn't have it.  Apparently, they greatly improved the test and she thinks it's worth a try.

Later in the day - after a side trip to Ikea - we visited the neurologist.  We have seen Dr. Fernandez several times a year for the last 9 years - I have such respect for his determination to figure out these kids!  After telling him about the genetics visit, he said, "You will find out what is wrong with these boys."  He has never said that before and it gets me excited...  Scientists are learning so much everyday and it's only a matter of time before we can put our finger on it.

So now I will  be cautiously optimistic about this round of tests.  I've been optimistic before and was let down - I tend to lean on the pessimistic side, but today's appointments give me a good feeling!


Carol said...

This definitely sounds promising Kristin! I too, would want a name and I think it's perfectly normal to have the need to talk with someone who is walking the walk close to your "journey".

I'm excited for you also...praying they find a "name" for your precious boys...funk and all!!


Prachar family said...

Hope is alive. That is so important!

KelleyB said...

I just found your blog today, and can totally relate -- to nearly all of them! As I'm digging through your archives, I saw this particular post, and it's so very familiar. (heck, they're ALL familiar!!) I know this is from a year ago, but have any doctors pointed you in the direction of Leukodystrophy? My son is 16 and has many of the same traits you describe. We went through so much testing, spinal tap, muscle biopsy, etc., only to be told "normal". Normal?? Have you seen him??? We've been given diagnoses such as ADHD, Asperger's, Chorea Minima, Freidrich's Ataxia, Fragile X, Pelizaus-Merzbacher ... all of which were eventually crossed off the list.

He is currently considered an Undiagnosed Leukodystrophy, as his MRIs show very little white matter in the brain. I consider this un-diagnosis a blessing, because some strains of leukodystrophy can be frightening! They are starting to narrow down his dx as "4H Syndrome". I say narrow down, because science has not yet elucidated the gene that is responsible (and why genetic testing was all but useless!) My husband, son & I have all donated blood/DNA at Children's National Hospital in WashDC, where a doctor is doing research specifically on 4H Syndrome.

Like I said, he is now 16, and we saw the docs in DC in October, and it's the first time EVER that doctors have had had any information, and sounded like they actually knew more than we did, for a change!! (you know that feeling?)

Well, I look forward to your blog. I hope you are able to find answers. For us, there's no cure or even treatment for Matthew, but it's a direction, and research is being done to find out more. Stem cell research looks promising in the next decade or two. I could go on and on, but ... enough from me!

~Kelley from NY