Friday, August 16, 2013

Special Needs Spotlight: Maddy


 

Hi there! I'm Nicole and my husband Bernard and I have two daughters, and a third on the way. We are an Australian family living in Hong Kong (where my husband was born). When I was pregnant with my 2nd daughter Maddy, we found out that her bones were growing abnormally. The general diagnosis given was "skeletal dysplasia" (SD), but this is a broad diagnosis that covers over 200 separate conditions.  Initially, the doctors were concerned that Maddy would have a lethal SD. With lethal SDs, the baby's ribs do not grow enough to allow the lungs to be able to sustain life.  The baby is healthy as long as it is unborn, but usually passes within hours of birth.  As the pregnancy progressed, however, the doctors thought it looked more and more like Maddy's form was a non-lethal SD.  Usually a non-lethal SD means that the baby will have a form of dwarfism.  Maddy's form is called Diastrophic Dysplasia (DD) and is the same diagnosis as Matt Roloff from Little People Big World  and less-known pianist Chris Errera.  A mother of an adult child with DD has created a helpful website about this condition: http://pixelscapes.com/ddhelp/ We recently found out that our third daughter, who will be born in December, will also be born with DD.  You can read more about Maddy and our journey with DD at our blog here.  

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Miggy:  Hi Nicole!  Thank you so much for participating in the spotlight today.  Like you, we too found out things weren't 'right' at the ultrasound appointment.  Can you take me back to that day--what you were told and how you coped with the news?  Can you compare those first thoughts and feelings with how you feel now? 

Nicole:  The news for us came over multiple appointments.  At 14 weeks, we had a bad result in the Down syndrome screening test. We were told we had a 1 in 7 chance that the baby would have DS.  At that time, while it was a shock, I was still optimistic that there was a 6 in 7 chance that everything would be perfectly normal. At 17 weeks, we decided to have an amniocentesis so we could prepare for (I thought) either a baby with DS, or a perfectly healthy child.  Instead, we were told that the skeleton had obvious "deformities" and that it was likely to be the skeletal issues causing a false positive in the DS test.  Our doctor called a prenatal diagnostician and got us an appointment within hours.  At that appointment we told that worst case scenario, our daughter wouldn't survive her first 24 hours, and at best, she would have dwarfism.  We were told that the chance of her being "normal" were virtually nil.

The whole day was such a daze,  I couldn't believe that we were really hearing that news.  We had decided even before this that we would not terminate, whatever the outcome, but I couldn't get my head around how it would feel to carry a baby for nine months and then to spend one day (if that) and then bury her.  I had such a fear of that "worst case scenario," and being away from my family back in Australia (while we were living in Hong Kong) made it so much worse.

We went for three months (until I was about 30 weeks pregnant) knowing there was a very real possibility that she might not survive, so when we found out that her condition was probably non-lethal, I felt as though we'd won the lottery. She wasn't going to die, she wasn't even going to be cognitively affected.  It was only a mild to moderate physical disability - we could do this!  Actually in those early stages, I was still naive about the disabling elements of dwarfism - I thought that dwarfism was just someone who was short.  Now, I am much more informed about how her condition will progress and that's not always easy, but I still know that we are extremely blessed. Maddy is healthy, active and mobile. It could be a lot worse!


Miggy:  While I don't know a lot about dwarfism I do know there are different types.  Could you educate us on your daughter's specific type of dwarfism and how this affects her?  

Nicole:  You've previously featured Zayn in your special needs spotlight.  He has the most common type of dwarfism, achondroplasia.  This diagnosis accounts for over 70% of non-lethal forms of dwarfism so is usually what people think about when they think of dwarfism.  Maddy's form is far less common and is significantly more debilitating.  Since her dwarfism is caused by deformities in the cartilage, the airways are often affected so some children need tracheotomies.  Fortunately, Maddy's airway issues are not so severe and she can breath independently.
The main issues with diastrophic dysplasia comes from joint deformities.  For Maddy, none of her fingers bend at the middle joint, although she can do almost everything that any other 3 year old can with her hands!  Also, her hip joints are very shallow and we've been told she will need a hip replacement probably by the age of 30.  Maddy has great knees and feet for someone with her condition--many kids struggle with severe clubbed feet that can make walking near impossible, but Maddy only needs to wear an orthotic insole.  Maddy's most complicated orthopedic issue is her spine--she already has a significant kyphoscoliosis and complicated spinal surgeries will be inevitable.

In addition to the orthopedic issues, kids with dwarfism in general often have smaller ribs, and therefore smaller lungs.  Maddy's scoliosis adds to this, so she is more susceptible to lower respiratory infections.  I often joke that God blessed her with an amazing immune system though as she rarely catches a cold.


Miggy:  Explain how your Maddy's dwarfism affects your day-to-day life?  Or does it?  Not all special needs do!    

Nicole:  In many ways, Maddy's dwarfism doesn't affect our day-to-day lives. She is for all intents and purposes just an average 3 year old.  There are no medical needs to worry about on a daily basis.  She's not affected cognitively so can go to a regular preschool and eventually a regular school.  Now that she is older, her doctors appointments and therapy appointments are less frequent than they were when she was first born.
In other ways, it affects our lives a lot.  We have many stools around the house so that she can independently get up onto the sofa or onto her bed.  Potty training has been more difficult as she cannot reach to pull down her own pants and can't wipe. We will end up needing adaptive devices to help her to be independent in that area. If she were an "average 3 year old," she would be able to walk most places, but she is still very reliant on the stroller.  Eventually, she will need a motorized scooter or wheelchair for distances.  I'm just waiting for her to be mature enough to be able to steer without causing an accident!


Miggy:  What are the biggest worries you face for Maddy?    

Nicole:  I have seen Maddy grow and develop into an active three year old.  She has already amazed me, particularly with how innovative she is.  If she can't reach something or do something herself, she often finds a way.  At therapy, I find myself saying "I think she won't be able to..." just as she proves me wrong.  My worries have nothing to do with what SHE will be able to do because I've already seen that she can do whatever she puts her mind to do.

My two biggest worries are this: firstly, other people.  How will other people treat her?  Her disability is very visible, although she is no different from anyone else.  Will she find someone to love?  Will she be able to marry and have a family?  Will she be discriminated against when she goes to look for jobs?  I hope that people will treat her with kindness and respect regardless of her physical differences.

Secondly, as she ages, Maddy's joints will deteriorate and it's likely that she will suffer from chronic pain.  I hope that her pain is not severe and that she can find ways to manage it.


Miggy:  Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?

Nicole:  The funniest moments for us come from people assuming that Maddy is much younger than she is.  It is a common mistake.  Realistically, she is the height of a 6 month old, but she is walking and talking!  Some people just can't figure it out. Last year, someone asked me how old she was.  I told them "two."  They replied "months?"  She was walking and talking at the time.   It amuses me to see them trying to figure out how someone her size can be doing the things she does.  Sometimes, people can be borderline rude.  I find it better to laugh than to be offended.  One time we were at the playground and someone asked us, "She looks like something is wrong with her.  Have you taken her to see a doctor?"  In moments like that you have to choose to either laugh or to be offended.  We choose to laugh.


Miggy:  How can people best approach or respond to Maddy?  Is there something you wish other people knew so as to avoid awkward or hurtful situations? 

Nicole:  I think the main thing with Maddy is that it's important to treat her according to her age and ability rather than to treat her as though she is younger or not as able due to her size.  Also if you have questions about Maddy's disability or dwarfism in general, just ask. I try to be as upfront and open about it as possible.  In fact I started Maddy's blog primarily so that I could discuss her needs, her medical situation and our thoughts and struggles with regards to all that.  I'm very hard to offend, as long as I know that it's an honest question I'm not going to jump on someone for assuming things, or for not using the "politically correct terminology" (which as a side note, I strongly dislike the current PC term "little people."  How is that not belittling?  Particularly for adults! I'd rather just use the medical term "dwarf", or even better, say "has dwarfism").


Miggy:  Now, you've told me that you’re pregnant with another child (yay!) and that you've found out you've found out this baby also has dwarfism.  Knowing what you know now, do you have new concerns or are you feeling more grounded this time around?  Also, there might be people who judge your decision to have another child when you "knew the risks."  While personally I don't think it's any of their beeswax, is there something you would want to say to people who might criticize this decision?  If you don't want to address this please feel free to skip this question.  I know I'd take another kid with limb differences any day.  

Nicole:  I think it's both easier and harder the second time around.  It is easier because we are more familiar with dwarfism and we already have figured out things that work for Maddy that may work with her little sister too.  Also I strongly feel that it will be beneficial for Maddy and for this new little one to have each other. While I can love them and support them as a mother, I will never really be able to know what it's like to have dwarfism.  They will have support in each other that we could never offer them ourselves.

It is also harder because I know what to expect.  In particular, Maddy had a long stay in NICU when she was born, primarily due to concerns about a neck instability (which we were later told never existed), which prevented her from having a certain test, she needed before she could be discharged.  The hospital's approach was to wait for her to grow and see how it was in a couple of months.  I strongly believe that there was nothing they did in NICU from the age of 2 weeks until 4 months when she was finally discharged that couldn't have been done at home or as an outpatient.  She was in because no one wanted to take the "risk" of signing her out without this one test that she "needed" (but never had, even at 4 months).  I am terrified that we will go through that (or worse) again with this little one.  With Maddy, we took those four months day-by-day, week-by-week.  If I would’ve have known what it would be like in advance, it would have been even more unbearable.
To answer the second part of your question, we were offered preimplantation genetic screening (where we could guarantee to have a child without dwarfism) and turned it down.  When we chose to have another child, we did so knowing the risk but also knowing that a life with dwarfism is still a life worth living.  As Christians, we trusted that God would give us the child that He knew our family needed and left that up to Him.  One of my main concerns with preimplantation screening was what would that say to Maddy?  If we would’ve have known in advance, we would have chosen for her to never have been conceived?


What is the biggest lesson you’ve learned since becoming Maddy's mom?   

There are so many things I've learned. Here are some of the ones I keep coming back to:

1. What will be will be.  I stressed so much during my pregnancy with Maddy with the not knowing.  Would it be lethal?  Would she ever walk?  Eventually I had to realize that she already WAS, and whatever syndrome she had was set from the moment she was conceived.  There was nothing I could do to change the outcome so worrying was not going to help her, it was only going to harm myself (and in the process, possibly harm her too).
2. Look deeper.  I used to turn my head when I saw anyone with a disability.  Now I may have gone the other extreme.  I read so many blogs about people with disabilities and their families.  I was excited when a new friend told me her brother had spina bifida.  I now see people with disabilities in the street and I wonder about their lives.  What do they do?  How much support do they have for their needs?  Are they happy?  I smile and nod rather than turning away.  I know not to be "scared" by differences but to see similarities.
3. Everyone has their "cross to bear.”  Yours is no better or worse than the next person's.  I know some people who struggle so much with their "cross" that they can't see their blessings.  Be thankful for the blessings that you do have rather than focusing on what you don't.

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Nicole, thank you so much for this spotlight.  There is so much wisdom packed into those paragraphs above.  First, I love what you said about choosing to laugh...  "In moments like that you have to choose to either laugh or to be offended.  We choose to laugh."  That is really an amazing attitude to have and something more of us (me included!) could learn to adopt more readily.  Also, I have to say when discussing the lessons you learned I love that you said, what will be will be.  So much of our children is pre-determined before they ever get here--health issues, preferences and personality traits.  Worrying will not solve anything and too often can only make things worse.  Really, there is so much more I could have quoted, you have given me a lot to think about.  Maddy is precious and I'm very glad she has you as a mother.  Thanks again for your participation.

As always if you or anyone you know would like to participate in the special needs spotlight series please email me, or have them email me directly, at thislittlemiggy at gmail dot com.  

Have a fantastic weekend! 

9 comments:

  1. What a beautiful girl Maddy is! This whole post gave me goosebumps. This sounds like a truely amazing family! I have a son that was born with some issues and what Nicole said about people who "struggle with their cross so much they can't see their blessings" is so true and is such an eye opener! Love Love Love this spotlight.

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  2. Such a beautiful family! Thank you for sharing this one (I love all of your Special Needs Spotlights!).

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  3. yay! another dwarfism spotlight. :)

    nicole - i can relate to so much of what you had to say. thanks for sharing. also, i agree with you 100% about the term "little person." i always feel like i'm the only one who thinks that "little person" is belittling. i think "little" implies unimportant, or of lesser value, and my son is anything but that! we always say dwarf, or zayn has dwarfism. so glad someone else in the community agrees with me!

    congratulations on your pregnancy - i'm sure she will be just as beautiful as your other two daughters. best of luck!

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  4. "She looks like something is wrong with her. Have you taken her to see a doctor?" Lol. People say the darndest things sometimes. Great spotlight. So much of what Nicole had to say really resonated with me. Especially the looking deeper leson. As mom to child with a heart defect, I have immersed myself in blogs about other kids with special needs. My husband can't figure out why, and sometimes I can't either, but before my son, I was never aware of this world. You know, these things happened to other people, not me. I just love hearing about other families and how they're doing it. I think my son has been the greatest gift, allowing me to see that not everything is 'normal', but that life can still be relatively normal despite the challenges. Thank you for the spotlights. Good luck to Nicole and her family.

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  5. so beautiful. thank you for sharing!

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  6. Thanks so much for featuring our family - I love this blog and especially love the ways in which it connects us all, despite our differences :)

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  7. what a divine little girl and what a gorgeous family.

    I love it that you are an Aussie in Honkers. My sister lives there as an expat too.

    Thank you for sharing and I love the little vest x

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    1. I made those vests! Very proud, the first things I ever knitted. And that's cool that your sister lives in Hong Kong - it's a fantastic place to live :)

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    2. I go there often and love it. It has the best energy.

      Those vests are wonderful.

      How good is Miss Miggy' s blog? Take care x

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