A New Path On Our Journey

26 Oct

I’m happy to announce that our little ladybug is now home.  It has been a very difficult few days adjusting to a different setting, especially since she was having horrible side effects from the iron.  Screaming and not sleeping for 3 days straight definitely took its toll on all of us. We have since put the iron meds on hold to regain a bit of sanity and find a new way to help rebuild all the hemoglobin that has been lost these past few months.

I know that I haven’t written as much as I did when I first started this blog.  Truth be told, we finally got a diagnosis that ties everything together and it has been extremely hard to take everything all in – let alone try to explain it to others without breaking down. When our little princess was born we knew there would be a special secret that put all of her little quirks into one itty bitty, cute, and adorable package. At the time I would wish we knew what was going on, although it is nice to finally have answers it doesn’t make it easier.

Anyone who has ever received a life changing diagnosis for the ones you love – whether it be a child, spouse, parent, or friend, know that as soon as the doctor tells you those words your entire world flips upside down in an instant.  Any hopes or dreams for them just seem to float up in the air and hover, because even though you may finally have a diagnosis there is no way of knowing how things will play out.

This has been my life for the past two weeks.

Our little ladybug was diagnosed with an extremely rare metabolic disorder known as CDG (Congenital Disorders of Glycosylation). It means that her body can’t transfer the sugars needed, which means that she is unable to absorb protein. CDG causes many different disorders that effect several systems in the body. There are approximately 500 cases of CDG worldwide, most of which are type I, only a very tiny handful have type II.  The latter is where my princess falls.  Although there are 500 cases of CDG worldwide there are less than 4 cases I’m aware of where the child has type II (although I’m sure there are more).  Type II has defects in the enzymes that remodel the sugar chains after they have been added to the proteins.

I’m still trying to learn about this disorder, I’ve even bought a biochemistry book to try to grasp the science behind CDG.

When we first saw the geneticist she had mentioned a carbohydrate disorder (CDG) that is rare and probably not the cause but they would test for it just in case.  I immediately went to the McMaster University’s library and tried to find as much information as I could about CDG. (There isn’t much) I did manage to find a FANTASTIC website for families of other children who have CDG.  The parents have the opportunity to share their stories, and join an email network that connects everyone.  This CDG Family Network http://www.cdgs.com has been a lifesaver for me.  Although we hadn’t even had a confirmed diagnosis, and CDG is rare, I felt in my heart that everything fit.  The families were there to answer any questions I had, but most importantly were there for me as a support system while my ladybug was in the hospital.  Every parent on the network had been through exactly what we were going through to one extent or another.

CDG symptoms vary from child to child.  To sit here and list all of the symptoms  of CDG would take forever, but for all of you to get a better understanding I will list the most common.  There are over 15 known sub-types of type I, and over 5 known sub-types of type II.

  • hypotonia (low muscle tone)
  • failure to thrive (slow growth)
  • developmental delay
  • hepatopathy (liver disease)
  • coagulopathy (bleeding tendencies)
  • esotropia (crossed eyes)
  • seizures
  • cerebellar hypoplasia (changes in the brain that can be seen on developmental delay)
  • cardiac issues
  • gastrointestinal bleeding
  • feeding issues requiring feeding tubes
  • Some symptoms will become increasingly prominent as the child grows older.  The first 3 years in the child’s life can be the most serious and sadly in some cases become fatal.  Along my journey on the CDG Family Network I have talked with several parents whose  children have become precious little angels.  This was and still is very hard to deal with. I know that these beautiful angels are now watching over my sweet daughter and all the other children across the world that have CDG.

    We are now in yet another stage of waiting to see if a sub-type can be found.  Both type II children that I’m aware of are still waiting and its going on 3 years. So we may never know, or she could have a whole new sub-type.

    For a better understanding of CDG I encourage you to check out the CDG Family Network site at http://www.cdgs.com.

    As of now there is no cure for CDG, it’s a matter of treating the symptoms as they begin to present themselves.  In our ladybugs case, putting in the g-tube to help with feeds, being followed by GI to keep an eye on her tummy, Neurology to follow the Hypsarrythmia and watch for seizures, Haematolgy to keep an eye on the coagulation of her blood.  It also means that Ibuprofen and Aspirin are out of the question because they could cause bleeding, Tylenol has to be given in strict moderation because it could affect the liver, and even the common cold could cause bigger problems.  HOWEVER, I will not become one of those mothers who is afraid of their child living their life for fear of getting sick.  I guess it just means I’ll be more aware of her surroundings, so no chicken pox parties, or group play with a bunch of runny nosed munchkins during RSV season.

    As hard as it was to get this diagnosis, it will never change how much we love our sweet little princess.  She will always be perfect in our eyes.

    I want to thank everyone who helped me get through the past few months. First and foremost my wonderful partner and baby daddy who keeps me calm and reminds me to breath when I get worked up over things, our families for being so supportive, my bestest friend in the whole wide world – poppet I love you and am so thankful to have you in my life.  My CDG family for answering any questions I might have and openly offering advice,  the mommies of ladybugs favourite roommates (C, H and A), Little A.S. for always making us smile. Finally all the wonderful, fantastic nurses at MAC who were always there to give hugs when I’d break down in tears or needed to vent – Heather, Jill, Tracy, Pam & Natalija (and so many more to list).

    The unknown, yet exciting adventure of mommyhood in the CDG world is only just beginning. I know there will be bumps in the road along the way – it just makes all her milestones that much more precious.

    http://www.cdgs.com

    Facebook Page:  Little Ladybug Hugs

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    11 Responses to “A New Path On Our Journey”

    1. Krista October 26, 2010 at 6:59 am #

      Oh Liss….what can I say…..that was so beautifully written. I have tears streaming down my face….You, my wonderful friend, are an inspiration to so many. You should write a book about your experiences. So many people could benefit from your strength and wisdom. I am in awe and I wish I could take away all of your pain and suffering and uncertainty.

      Know that I am always here and that I am your biggest fan!!!!

      Lots of love, always,

      Krista xoxoxoxoxo

      • Little Ladybug Hugs October 27, 2010 at 9:41 pm #

        Thank you Kris. I don’t know where I’d be with out all of your support and encouragement. xoxo

    2. Stephanie Bell October 26, 2010 at 8:32 am #

      Melissa,

      That truly was beautifully written. I too have tears in my eyes. You are so amazing and strong. Your precious, beautiful, adorable lady bug is so lucky to have you as her Mommy. You write so eloquently to be able to put this in terms that everyone can understand, and to be able to share your story so others can benefit. You truly are amazing. You have talents that your little lady bug will benefit from every day! We are here for you. I wish there was something I could do for you. We think about you and your precious little family every day, we pray for you and love you.

      If you need / want anything at all, we are just a phone call / email away.

      All our love 🙂

      Steph

      • Little Ladybug Hugs October 27, 2010 at 9:46 pm #

        Steph,
        Just knowing that you are supporting me and will always be there for me is greatly comforting, I am truly blessed to have such a wonderful cousin in law.

    3. Martha October 26, 2010 at 12:54 pm #

      Your Little Ladybug picked the right mommy for the job 🙂

      • Little Ladybug Hugs October 27, 2010 at 9:48 pm #

        I couldn’t imagine it any other way now. 🙂

        • Auntie Janevieve October 31, 2010 at 4:08 am #

          I think she picked the right Daddy for the job, too! I am proud of you and my little brother for being such strong and wonderful parents. We pray that you continue to get all the support and help you need and that Amira makes great progress.

    4. Heather October 26, 2010 at 7:43 pm #

      Hello again… I know how you feel looking over those symptoms and how awful it seems. DS has many of the same symptoms, the hypotonia, the delays, etc. It’s amazing how something that sounds so scary in the beginning actually can be very beautiful. I feel I have my baby for longer and the low muscle tone means they just snuggle right into your neck for a much longer than other babies. I’m not sure where you live, but if you’re in Halton, there are wonderful developmental consultants and occupational therapists who come right to your home to help your child to thrive. Your daughter, is a beautiful, beautiful baby. I hope things get easier now that you’re home. Once she is feeling stronger, there is a wonderful drop-in playgroup for children with special needs in Burlington on Wednesday mornings. Sometimes that’s a nice environment to be in as everyone understands what you’re going through. Let me know if you’d like any more information. Wishing you and your family all the best. h.

      • Little Ladybug Hugs October 27, 2010 at 10:03 pm #

        H,
        That is so very true – this morning when I picked up my little princess and she snuggled into my neck it was such an amazing feeling. Plus, she is getting such great use out of all her clothes. I will definitely look into the drop off in Burlington. If you could send me some more information that would be fabulous. You can send it to littleladybughugs@gmail.com
        Thank you very much for your encouragement and support.

    5. Andrea October 28, 2010 at 3:13 pm #

      I’ve been following your story, and I almost cried when I read this. You are such a bright light, along with your little princess! Thank you for keeping us all posted, and I hope that you have some peace now that you know that CDG is the cause of some of her issues. I hope you’re holding up, and I’m sending you a big hug!

    6. Julie October 31, 2010 at 12:12 pm #

      xoxo – thanks for keeping us posted.

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