Little Ladybug Hugs

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.

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

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I hope that all my Canadian friends and family had a wonderful Thanksgiving.  Autumn is by far my favourite time of year, especially going for long walks in the crisp air with the smell of freshly fallen leaves.  Hopefully my little ladybug will be out of the hospital before winter begins.  It’s looking promising.

Like I mentioned above my princess is still in the hospital, we are most definitely on the home stretch though.

Today a friend asked me how I can handle being at the hospital and away from home day after day, week after week, and now month after month.   Truth be told the hospital feels more like home right now than my own house.  The nurses have become our extended family and love my ladybug as much as any other family member would, in fact there are a few nurses who have gone above and beyond their duties and have become close confidants for me. The house I go home to some nights is just plaster walls and a roof. Once my daughter is discharged from the hospital it will become a home again.

Looking back to when she was first admitted we have come so far. A 10 cm portion of her small intestine filled with ulcers was removed, a milk protein allergy was found to be the cause of a lack of peristalsis, an EEG test confirmed a hypsarrythmia in the brain waves. Not to mention countless tests, and 5 blood transfusions in nearly as many days. Today my beautiful 10 month old princess is tolerating her feeds, beginning to gain weight again and is no longer in pain – aside from the *2nd* tooth that broke through today.  YAY!!!  I even went out last night to buy her first toothbrush.  Brought tears to my eyes – milestones like these are amazing but a teeny bit sad because my  little ladybug is starting to grow up.

Last week the wee princess had her 2nd EEG to see how well the Vigabatrin was helping the hypsarrythmia.  Yesterday, the Neurologist along with his entourage of mini doctors came in to discus the results.  The hypsarrythmia was still present on the EEG ( I had a feeling) however, I was not prepared for what he would tell me next.  It hasn’t decreased.  Which means that the Vigabatrin had failed.  Aside from a Steroid type injection (which has a list of side effects that could wreak havoc on a healthy persons system let alone a wee baby with medical issues), at this time there is nothing else they can do. For the first time I was speechless – what are you supposed to say at that point?  I knew when we started this medication it may not work and the other option was much worse.  Even still – I really felt like it would help. Now it’s a matter of waiting to see what long-term effect it could have, and in the mean time hitting the books and medical journals to see if there are any other possible treatments aside from the steroid injection or the diet.

At one time it was thought that my ladybug had a form of infantile spasms – this has been ruled out.  There is a type of special ketogenic diet that has been linked to helping children with seizures, and was suggested as a preventative measure. However at this point with finally finding a formula that LB can tolerate I’m not ready to start experimenting until her tummy is completely 100% back to normal.

Today….we almost had the MRI.  It was an incredibly anxiety filled day waiting and waiting.  Alas, it never happened.  As of now we have one booked for tomorrow at 12:30.  I’m not going to hold my breath, but at least we are getting closer.  The current pediatrician who is pregnant came in after the huge cluster mess of today and mentioned that if the MRI isn’t done by  tomorrow she is going to start spitting fire.  Anyone who has ever been pregnant or even around a pregnant woman when they are pissed off and on a mission knows that it won’t be pretty.

I’ve no idea when I’ll get the results from the MRI, but will update as things come along.

Happy Wednesday!

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