Thursday, August 4, 2011

Life, Undiagnosed (and how I've come to be ok with that)

I remember the first genetic test we ran.

Actually, rewind that.

I remember the phone call that led to the first genetic test we ran. We had met with a private feeding therapist because I could see that Maya would need help learning how to eat. A few days after the consult she called, and with a wavering voice full of apologies, told me something like “I really, really don’t want you to worry about this, but I know you will (she was a mom, too). I’ve spoken with a geneticist and we think that maybe you should meet with a doctor and get tested for Down syndrome.”

On the outside, there wasn’t much of a change. I was standing in the kitchen, with the phone in one hand and my 7 month old baby in the other . . . I leaned back against the counter and felt the color drain from my face. 

On the inside, I fell to my knees.

And my inner voice started to beg “No no no no no no. This can’t happen to her, this can’t happen to me. Let her not eat, let her not talk, let her mouth be jumbled and useless, but don’t let her have something big and genetic. Something that could affect her mind. Let her be smart. Let this test be negative. Please, please, just let this test be negative.”

And (a very painful month later) it was. 

But my (huge) sigh of relief was cut off mid-exhale as I realized that the geneticists weren’t washing their hands of us. The “come back in 6 months, just to check your progress” request whispered “You’re not done here, friend. Don’t celebrate just yet.”

And so it continued, appointments with a barrage of specialists, each doing their exams and tests. I couldn’t help but notice a gradual, but significant sliding shift in my perspective . . . while one part of me would enter a doctor’s office thinking “don’t find anything, don’t find anything” another part was thinking “give us some information, please”. As time went by it was undeniable that something was wrong different . . . it was time to find out what that something was.

More time passed. More normal tests. But clearly, our situation was not normal. 

My small spark of desire for a diagnosis started to flare up. I wanted a name. I wanted a prognosis. I wanted to be able to connect with other parents and plug into a support system. I wanted to hear from people with older kids and find out what their kids could and couldn’t do.

At naptime, I googled. I looked at syndrome descriptions, symptoms, prognoses. I became convinced that she had a dozen different conditions. I looked at pictures of diagnosed children and thought “those are her eyes! This must be the one!” My heart would pound and adrenaline would rush as I convinced myself I had found the answer, and then crash when I realized that a major symptom didn’t fit. Empty-handed, again. By the time she woke up I would be wiping away tears, again. Anxious. Searching. Desperate.

But at some point, I realized something.

Unless the diagnosis came with a crystal ball, it still wouldn’t answer the questions that raced around my head when she was asleep and the house was quiet and I had time to think. Somehow my obsessing over “The Diagnosis” had turned it into some kind of huge goal---if we could just get The Diagnosis, then we would know! We wouldn’t be in the dark! Our questions would be answered!

I had my mental list of questions-that-matter-the-most at the ready, just waiting for The Diagnosis to come along and predict our future.
  • Will she walk and run? And jump? Will she be able to balance on one foot, or to go up and down stairs without assistance? (More specifically, will she move “typically” . . . or will she always have a unique way of moving that sets her apart from the other people on the sidewalk?)
  • Will she talk? (Will she speak well enough someday that no one would know that she was so late to the speaking game?)
  • Will she be smart? (Will she read and write and do math? Will she understand abstract ideas? Will she know what I mean when I say it’s her birthday?)
  • Will she follow the path of a typical life, or will she be a dependent forever? (Will she go to college? Will she ever live alone, or is a group home situation in our future? Will she date, or get married? Will she be a mom someday?)
  • Might she be exceptional? (Einstein didn’t talk until he was 4, I’ve heard. Give me a silver lining. Is it possible that while she’s trapped in this weak, disorganized body, her little brain is learning and growing and forming connections and will someday change the world?*)
A diagnosis would give me an answer, but not to these questions-that-matter-the-most. Most diagnoses come packed full of sentences that sound like this “Most children with xyz will learn to speak.” Or “Many children with abc suffer from cognitive impairment, which can range from mild to severe.”

It seemed likely that any diagnosis would come with a prognosis that was about as clear as mud.

And even if we got a diagnosis and a prognosis with some concrete won’ts (like “She probably won’t be able to walk independently”), odds are that I wouldn’t accept them anyway. I would keep believing and pushing, same as always. It would be impossible for me to give up on walking or talking when my girl has only had a few years to practice. Skills will come . . . or they won’t. Knowing The Diagnosis won’t change any of that.

So really, what’s the point in worrying about it?

Adding a few words to our chart won’t change anything (now. Believe me, I would still like to find a diagnosis before she turns 5, because it would make advocating for services much easier.  And it would be nice to know if we should expect any medical complications down the line).   But for now, she is who she is (hilarious, clever little thing) and we are doing the best job we can of helping her to grow and learn, just like every other parent on the planet.

A diagnosis would be nice, and we’ll keep our eyes out for one . . . but if it never turns up, well, I guess that would be ok, too.

(*This is the only question here that I for sure know the answer to. Is it possible that her little brain is learning and growing and forming connections and will someday change the world? Of course it is, silly. Anything is possible.)

My past thoughts on our undiagnosed life can be found here and here.



Lady Esther said...

Yes, I'm with you on that! It's hard but it wouldnt necessarily change anything but give us a snapshot of future possiblilities but who is to say what your child is capable of. We must not limit them by what we think or what others tell us. :) or labels.

Anonymous said...

I simply love these posts as they are sooo our story as well. I would be fine without a diagnosis if we could just get services because our children need them - no magic words necessary. Thanks for sharing.

Anonymous said...

I love this post. Glad you guys are having a fun summer


Anonymous said...

Hi, just wanted to thank you for writing this. Im blessed with 3 normal, healthy children, but I do understand how important a diagnosis can be. I know a couple, whose daughter (she's 12 now!), was born very premature, and she has some difficulties expected of premmie babies, shes got bad eyes, bad balance, slightly behind at school, and "dicky knees". She's always had bad knees, not that it stops her doing anything, really. You wouldn't know to look at her that they hurt, and that she sees physios several times a year. Last year, they saw a different specialist, and then another, and returning to work, her dad turned to me, and said "Maddie has cerabal palsy", and there were tears in his eyes (I didn't know then, but of happiness). I didn't know what to say, so I asked "well, what does that mean for her?". I know CP is a brain injury, I think, but thats about all I know. He turned and looked at me and said "It means she's the same as she was yesterday, but now she can get the help she needs". I didn't realise why sometimes labels can help, before this, but after listening for a while, hearing him say how they've had tests and specialists and all they could say is "she has dicky knees", for 11 years, to finally get some explanation and be able to access the right services, I get it now. I hope you get the answers you're looking for, but support, and your' daughters happiness, rate slightly higher than a label. xoxoxox

Anonymous said...

Hello, I came across your blog through a Facebook group on undiagnosed conditions. I have a 13 year old daughter who still doesn't have a diagnosis. It's nice to read about someone experiencing that and for me to think, 'I can relate to that!'. Best wishes to you and your daughter. Moira

Unknown said...

Hi, great blog post. I run a support project in the UK for families of children with undiagnosed genetic conditions - I'd love to reproduce this on our site and link to you if you're interested? I think lots of our families would love to read this. Let me know if you are interested on, take care, Lauren

Kim Roberts said...

This is exactly how we feel about our daughter. She will be six in October and still no diagnosis for us. To receive special education services through the school system, they use "global developmental delay" but there's so much more to it than that. We know that we're doing everything we can to help our daughter to continue to make progress, but it is difficult at times not knowing what to expect for the future. We are just so thankful that she is a healthy and happy little girl! Thanks for sharing your story. :)


Dana said...

Thanks for the comments, all. I thought there must be other folks out there who feel the same way :) And welcome tot he enw visitors who came in via SWAN's FB post.

Anonymous said...

I love your blog as well. I have a 10 year daughter without a diagnosis. It is very frustrating. My support group is a group of parents with kids with very different disabilities. Keep believing in your sweet girl. Look how far she has come!

Ms. E said...

I'm reading this post on the even of our long awaited 5 month in the making genetics consult. We've already had a normal chromosome test, microarray, CK test and so on and so forth. Our "formerly" blind son can now see and is kind of holding his head up. I came to your post because I too have been searching for The Diagnosis and at this point- it's 11:40pm at night and my husband is yelling for me to come to bed. Thank you for making me realize what a waste of time The Diagnosis is. I mean, I always knew it was a waste of time, but I think I needed to hear it from another mom who has been to our airport. xo

Anonymous said...

I'm back to you site after not having visited for sometime. I just read your post about No Diagnosis.
We have a medically fragile, medically complex child with global developmental delay, profound hearing loss and a list of medical conditions to long to elaborate here.
We have lived the medicaly odyssey of looking for a diagnosis. We have visited the top specialists and children's hospitals in Canada, and have taken our daughter to reputed facilities in the US looking for answers.
Our child has endured invasive medical tests and procedures to try and get answers. We never go them.
This week, on Monday, we had a meeting with out genetics doctor. He had found something after examining our child's DNA for the past year. He has confirmed that she has a rare disease that has not been seen before. It is a form of mitochondrial disease that is not yet defined or described in the medical literature. She is literally at this time, the only one in the world with this disease that we know of.

Diagnosis does not bring answers. We have a label beyond 'undiagnosed' but it has not treatment, cure, disease progression or cure associated with it. We are no further ahead in what our future might hold.
Having said this, I still would be searching for a diagnosis to this day. I wanted it, and I needed it. I feel calmer/more settled having it. I don't feel like maybe there is something out there to cure her or fix her that we are missing. I have stopped part of my second guessing.

I really enjoy your blog.
I have been considering starting my own - as a means to write about what is important and what I am feeling/seeing/living and to support other families (as you do with your Blog).

Thank you for sharing. It means a lot to us.


sarahsmiles said...

You took the words out of my mouth. This is exactly how it feels to have a child who is undiagnosed. The good news is that no one puts the limitations on your kid that they do to a child who has a diagnosis. The bad news is you don't know if you are prepared enough for the future. But the bottom line is, even if your kid is "typical", you don't know what the future holds for them. Sometimes it just makes us that much more thankful for the present. Thanks for sharing!

LTux said...

I cried...I cried reading this post because I could've written it! Thank you! Thank you for voicing what I haven't been able to yet.

Elizabeth said...

My child has a diagnosis but with it came me googling and reading things no one wants to read about their child. Yes he is healthy, really very healthy but no one wants to read 100% of children are MR and what the range is and I can never ever take back reading that although I want to more than anything. So I can understand you want a diagnosis but like others have said it won't give you all the answers and it may give you some you do not want, ever.

Megan said...

I remember how devastated I was when my daughter got her diagnosis at a month old. I hoped and prayed that genetics would not confirm it, but they did at 6 months (she's 10 months now). It wasn't until I started meeting families whose children were undiagnosed that I realized how blessed we are to just HAVE a diagnosis. Even though it's a dumping ground of a syndrome that has a huge spectrum and a buffet of medical issues to choose from, we have a starting ground. We have a support group. We worried about her being stereotyped with an official diagnosis, but she was being stereotyped already. With a trach and gtube, you bet she was being stereotyped! We have a very limited view of the future for her, but I realize now how nice it is to be able to have that "sound bite" as you put in your other post.

I just discovered your blog yesterday and am loving it! Thank you for taking the time to put your thoughts down that are such an encouragement to other parents!

Liz said...

Thank you for blogging about this. My 5 month old has an interstitial deletion of 11q, and although it doesn't have a name because of it's rarity, it is a diagnosis. You write beautifully and I look forward to reading more. This is our little sweetie's blog:

Beate said...

I stumbled across your blog some days ago and your posts rang a bell immediately when I started reading.

We live in Germany. My son is 4 with developmental delays (e.g. he also almost does not speak yet) and undiagnosed, too. We did all possible genetics, chromosonal analyses, metabolism tests,... you name it. Nothing came out.

I have to say that I am totally okay with that. Just as you stated in your post I was aware at a very early stage that having a diagnosis would not change anything. He is who he is and we have to help him the best possible way we can with regard to his abilities and the things he needs support with. No diagnosis would change that.

I am sometimes sorry for the missing diagnosis when it comes to connecting with other parents (e.g. the parents of children with Down syndrome seem to me like a big family and I sometimes would like to belong to some kind of "family", too) but in the end it is okay the way it is.

I am very interested in the iPad of Maya and the speech programme. Maybe we should try something like that as well for my son. Reading about your experiences made me think about that.

Anyway, I just wanted to tell you that I like your blog and that I will be a follower from now on. I also already liked your page on Facebook.

Have a wonderful day! :-)

Anonymous said...

What a fabulous blog post! I could have written it myself. To have a child who is 'supreme' in vocabulary and receptive language, but can barely speak intelligibly, can't run 'properly', can't manage a pencil to write his name legibly...and no diagnosis...I wonder how many kids there are out there like ours. This affirms that my thoughts on diagnosis are not unique. Thank you.

Jenna said...

Hi Maya and Family
My name is Jenna and I came across your site. Maya is a precious miracle, special gift, and beautiful princess She is a cute earthly angel. Maya is a smilen champ, inspirational hero, courageous fighter, and a brave warrior.
I was born with a rare life threatening disease, developmental delays, 14 medical conditions.