Getting THE Diagnosis

THE diagnosis may have a different name depending on the person – Maybe it’s Autism, Cerebral Palsy, IVH, Spina Bifida, Down Syndrome, prematurity or some genetic disease that is only listed by the chromosome that it affects.  For the purposes of this post, the label really doesn’t matter, if your child has had THE diagnosis – you know what I mean by calling it THE diagnosis.

It is THE diagnosis that leaves you wondering what the future holds for your child.  Questions like, will he ever be self sufficient – have a job or live on his own?  Will he walk? Will he talk?  Will he be made fun of on the playground?  Will he even get to join the other kids on the playground?  I could go on and on, but I did that already in one of my first posts called, “The known unknowns“.  The point is, when your child receives THE diagnosis, you know that he or she will likely have special needs for life.

For us, THE diagnosis was Periventricular Leukomalacia (PVL).  PVL is a form of brain damage that is often associated with cerebral palsy, mental and physical delays, seizures and behavior problems.  Owen was about 2 months old when we learned that he has PVL.

One of the pieces of information I can see on this blog is what search terms bring people to ANRC.  The most common way people find this site is looking up information on PVL.  Everyday, there are more than 15 views of that post that was posted this summer.  This post, is my message to those that find ANRC because they are researching their own child’s recent diagnosis of PVL.  It’s also for any parent that’s received THE diagnosis with any other name.  It’s our story of coping with THE diagnosis.

I’d like to say I took the news well…and I guess you could say I did take it well at first.  At the hospital I steeled myself and asked questions like how significant is the it big or small (the avoidance of answering the question told me it wasn’t small), what does this mean for his future, when will we know.  I stared at the black spots (cysts; which is where portions of the brain turn to fluid and dissolve) on the ultrasound and silently my heart sank, but I didn’t show a lot of emotion in the moment.

However, as soon as I was home and alone I lay on my bedroom floor in a heap with a box of Kleenex and cried huge uncontrollable sobs and grieved the fact that Owen would not be one of the 20% of 24 week preemies that survives with no long-term issues.  I imagined all of the worst case scenarios and I cried for what the future may be for this baby who was still critically ill.  I knew I should be grateful, it was only a week or two earlier that we had feared we were imminently going to lose him, but all I could think is “IT’S NOT FAIR!  WHEN DOES HE GET TO CATCH A BREAK, WHEN DOES SOMETHING GET TO BE EASY FOR HIM?!”  I cried and cried and cried.

And then I picked myself up and have never cried about it since.  I still grieve the loss of “normal”, but just like the CurePity post last week, I already knew dwelling on those thoughts is not what Owen needed.  My motto, that I first said to Kyle and then repeated to everyone until I believed it was, “No parent knows what the future holds for their kids.  Some parents don’t learn about PVL until their child is three and not walking.  We are lucky to know now – it means Owen starts getting help now.”

Instead of dwelling on it in a negative way, I became proactive about it.  I researched the outcomes through research papers and I made sure development was considered in his care.  I shared the statistics with our family and mentally prepared for what might come.  At the same time, I really focused on what he was doing and pointed out everything I saw, good or concerning, to his team.  We work on “therapy”, which is really just purposeful playtime at least 45 minutes most days and then another few hours on eating.  Plus we have 3 therapy appointments most weeks.  When I hold Owen I think about how I’m holding him, when I hand him things I switch sides, I build his development into most activities that we do.

Some think that I am obsessed or worried because I really do notice everything, but honestly, worry is not in my mind when I’m pointing out what I see.  Pragmatic and proactive and dedicated are the words that I would use.  I want Owen to have his best chances, and I refuse to look back five years from now and wonder “What if”.  I do give him breaks.  If he’s not feeling well, I don’t push him and if he’s not having fun, I stop, but when he’s willing to play, so am I.

I’m sure my advice will evolve as we continue down this journey, but 18 months since getting THE diagnosis, here’s my advice for those that are facing their own THE diagnosis.

  • Don’t be afraid to be upset.  Cry, scream, yell, punch pillows (please, not brick walls)…whatever it is that helps you release the sadness.  Get.  It.  Out!  Acknowledging sadness and anger is healthy and to be expected.  At the same time, don’t dwell on it.  This weekend I had coffee with a mom to a 6 month old who was diagnosed with Down Syndrome shortly after his birth, she said after the doctor gave her the list of what could go wrong, she thew it away.  She knew, it couldn’t be her focus.  That doesn’t mean she didn’t get upset, she too cried and cried, but she didn’t dwell on it.
  • Instead, use that sadness and anger for good – get your child the help that he/she needs.  Don’t be afraid to be a pain asking for help, but also be willing to give just as much as you ask for.  For us, the decision for me to stay home with Owen to focus on his development was the right decision   Financially, that’s been a tough pill to swallow, but it’s what has worked for us.  Other people have other, just as effective, ways of solving the same problem.  What’s surprised me most is I’ve learned when you use anger for good, the anger seems to transform into determination.  Determination is where power comes from.
  • Celebrate every accomplishment.  I’ve learned to make the goals small enough that there are frequent successes.  Each time Owen succeeds and sees us celebrate with him, it motivates him to want to try more and it motivates me to keep working with him.  Also, celebrating is a great way to slow down and appreciate the journey that we are taking.
  • Don’t lose hope.  For me, I needed to prepare for the worst, but that never made think Owen didn’t have every possibility in front of him.  I have no idea what the future holds, but I am hopeful and I’m more than willing to let Owen keep blowing my mind with his amazingness.

I know there are many readers who are further along the path of getting THE diagnosis.  What other advice would you give to the parents who just received THE diagnosis.

What is Periventricular Leukomalacia (PVL)?

I’ve mentioned both in this ANRC blog and CaringBridge that Owen has a form of brain damage that is a risk for babies born as early as he.  I’ve never spent a lot of time describing it for a few reasons.  1) We needed to come to terms with it.  2)  It often seems to me that scientist know more about Jupiter than the brain, so it’s not easy to explain.  3)  Knowing what it is doesn’t give a ton of insight into what it means to Owen.

However, implications are slowly coming to light – especially with his eyes – and so I figured its a good time to put a name and brief description to the brain injury that Owen has and why it affects some of the medical and developmental decisions we make for him.  As is the case with all medical information on this blog, remember, I’m a mom, not a doctor.  I do my best to convey the information, as I understand it.  I’ve included links to some sites on PVL so anyone with further desire to learn can get it from the true experts.

What is Periventricular leukomalacia (PVL)?  PVL is an injury to the inner part of the brain that transmits information from one part of the brain to another.

This image from the University of Maryland Medical Center website shows the area of the brain that is injured with PVL

What causes PVL?  PVL is most common in premature infants.  Those especially at risk are born before 32 weeks, weigh less than 1500 grams (3.3 lbs), are very ill due to infection at or near birth and require PDA surgery.  Basically the smaller and sicker you are, the greater your risk for PVL.  For reference – Owen was born at 24 weeks, 5 days, weighed 800 grams, had multiple infections, including one extremely bad in CMV and had PDA surgery at 8 days old.

What are the outcomes of PVL?  PVL outcomes depend on the extent of the damage and specifically where the damage is.  PVL can occur on one or both sides of the brain.  PVL with Cysts (truly dead, not just damaged areas) is more advanced injury.  The greatest risks are Cerebral Palsy and/or Developmental delays, vision and hearing disturbances, mental retardation, learning difficulties, epilepsy and behavior problems.  Every child is different in terms of how well they are able to compensate for the damaged areas and early intervention through physical, occupation and speech therapies is essential in helping the child reach their maximum potential.  Some children with PVL are only developmentally delayed and eventually “catch up” while others are physically and mentally impaired for life – the variation is great.

To what extent is Owen’s PVL?  Owen has bi-lateral (both sides) PVL with cysts.  The area of damage is relatively contained.

What are the expectations for Owen’s abilities in regards to his PVL?  I’ll refer you to the Known Unknown post for the best answer to this question, but essentially his eyes are the first confirmed issue due to PVL.  We also know that Owen has significant development delays – especially in gross motor and language skills, but that could just as easily be explained by the extent of trauma and illness that he faced in his first year.  Owen’s development is tracked very closely by many doctors, therapists, a special education teacher from the school district and, most closely, by Kyle and me.  With each day and every skill that Owen masters, I get more optimistic.

If you’re interested in learning more, below are some of the resources I found most helpful in understanding Owen’s diagnosis.  The below are summaries, but I’ve also spent a lot of time reading research in medical journals. If you are a parent of a child who has PVL and would like to learn more about how to get to those articles, feel free to contact me.  If you’re wondering how to cope with the new of PVL, I’ve shared our story here.

Emedicine, Medscape Reference

National Institute of Neurological Disorders and Stroke

CP Parent 

Children’s Hospital Boston