Raising Awareness!

As I mentioned yesterday, today is World Rare Disease Day and I thought it fitting to raise awareness to rare conditions.  As most people reading this, now know something of UCD's, I that today, I would pick an entirely different condition.

A little bit after starting this blog, I was contacted by a friend that I had lost contact with after university.  
Through Facebook, my friend was able to read my blog.  She contacted me to tell me that it touched her heart and hit very close to home as her daughter also was born with a rare condition.  

So, this post is in honour of her little girl who was born with micropthalmia.

Micropthalmia
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.  This condition may result in significant loss of vision.  People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.

How common is microphthalmia?
Microphthalmia occurs in approximately 1 in 10,000 individuals.

How do people inherit microphthalmia?

Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases, parents of affected individuals have less severe eye abnormalities. 

When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns.

Often microphthalmia is not inherited, and there is only one affected individual in a family.

Treatment

There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. However, some less severe forms of microphthalmia may benefit from medical or surgical treatments.  Children can be fitted for a prosthetic (artificial) eye for cosmetic purposes and to promote socket growth. A newborn with anophthalmia or microphthalmia will need to visit several eye care professionals, including those who specialize in pediatrics, vitreoretinal disease, orbital and oculoplastic surgery, ophthalmic genetics, and prosthetic devices for the eye. Each specialist can provide information and possible treatments resulting in the best care for the child and family. The specialist in prosthetic diseases for the eye will make conformers, plastic structures that help support the face and encourage the eye socket to grow. As the face develops, new conformers will need to be made. A child with anophthalmia may also need to use expanders in addition to conformers to further enlarge the eye socket. Once the face is fully developed, prosthetic eyes can be made and placed. Prosthetic eyes will not restore vision. (Information provided by Genetics Home Reference)

There are over 7, 000 rare diseases globally!  1 out of every 10 people have a rare condition.  Yet most of attention is given to cancer and heart disease and diabetes--and for good reason! 

But there are a lot of other conditions out there that need attention too!  

Attention and Awareness is the only way that doctors will start  and continue to research, to  look for cures, that pharmaceutical companies will start to conduct trials for life-saving medications, that us "Rare" folk will get the quality of life we deserve!


I love a "rare girl" more than words!  For Alexa and all her UCD brothers and sisters, don't let those rare conditions get buried!

"Our dream is for a cure, and we can't rest until we find it"  (NUCDF)

Global Genes Project & World Rare Disease Day

About Us

The Global Genes Project is one of the leading rare and genetic disease patient advocacy organizations in the world. The non-profit organization is led by Team R.A.R.E. and promotes the needs of the rare and genetic disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. What began as a grassroots movement in 2009 with a few rare disease parent advocates and foundations has grown to over 500 global organizations.

RARE is Everywhere

1 in 10 people worldwide suffer from rare and genetic conditions

Rare and genetic diseases affect 300 million people globally.  Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes.  The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.

World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families.

The sixth annual World Rare Disease Day will be held on Thursday, February 28, 2013. (http://globalgenes.org/)

For more information or to get involved in an event, please go to http://globalgenes.org/world-rare-disease-day/

To spread awareness for Rare Disease Day, I would like to highlight a rare disease for the next couple of days....stay tuned!

What a week!

I wanted to write this post a couple days ago; it is probably better that circumstances did not allow me to get to it.  On Wednesday it would have been a VERY negative post.  This way, there is at least a ray of light at the end of the tunnel.  Nothing like all inclusive stay at a hospital to humble you right up!

I am not selfish enough to not realize that there are plenty of others who have it way worse than us, however, there are times when I get just plain angry--Angry at the cards we were dealt, angry that Alexa drew the short end of the stick, angry that every time she should be celebrating with her classmates or family, she ends up in the hospital.  This was one of those weeks.  I was just ANGRY at LIFE--at all of it!

I knew this was not going to be a great week early on.  On Sunday night, Alexa came down with a low grade fever--one dose of Children's Advil later, and she seemed back to self, but on Monday night a nasty little cough started.  With Valentine's Day coming up and knowing that Alexa always misses out on celebrations with family and friends on special occasions, I KNEW this was probably going to end up like the others.  All I want is for Alexa to be able to get the most that life has to offer.  For a 4 year old, that includes being able to go trick-or-treating on Halloween, exchanging valentine cards with her classmates, opening Christmas presents with her family.  However, Alexa has spent the last two Halloweens sick (this past one in the ER). Christmas Eve last year ended with the same fate.  As well as MANY other family celebrations.
So I was pissed off when she got a fever on Tuesday night...I knew that this was going to put her out of commission for school on Thursday.  That all her effort into making valentine cards for her friends was going to have been for nothing.  This was going to be another special day that she was going to miss out on.

On Wednesday we got the call that we have been waiting 10 months for.  As soon as I saw the Blocked Caller ID on my cell phone I knew what it was. The liver transplant nurse called to ask us to bring in Alexa as they had a match for her.  It pained me to no end to have to tell her that Alexa had a fever and was coughing--I won't lie, I even tried to downplay the severity of the cough and fever--Not happy with myself for that, as I would never want to compromise her health or safety, but in my heart, I was hoping that her fever REALLY wasn't that bad!  It didn't matter--There was no way she would be able to take that liver.  To wait 10 months, and get THE call finally--and have to turn it down---Oh boy was I mad!  Immediately tears of frustration rolled down and there was no bringing me back from my despair.

Then I came home, and had to get Alexa to eat as she ate very little during the day.  Immediately tears came to her eyes and she complained that her tummy hurt.  To beg and basically force my girl to eat a bit of soup when her tummy clearly couldn't handle it, well that just put me over the edge...with tears rolling down both our faces, I sat her down and tried to explain to a 4 year old as if I were speaking with an adult, the reasons why she had to eat.  And the fact that she understood and tried, I mean really tried to choke down as much as she could.  I REALLY HATED LIFE AT THAT VERY MOMENT.  Why my daughter was not allowed to just be sick like thousands of other 4 year olds and eat when and if she wanted, irritated me!  And I had to be soooooo careful, she needed to eat enough that she got the calories to keep her metabolically stable but I had to make sure that I didn't push her so much that she would throw up...She got that look in her eyes and I knew one more spoon and it was all coming out--I stopped!  I had gotten enough into her that I was confident we would stay out of the hospital for at least the night.

Managing this illness at home was short lived though.  We did a lot of running back and forth between calls to the metabolic doctors and visits to the pediatrician and laboratories.  Everyone was on the same page--Alexa probably had a viral infection and as long as she was keeping her food, formula and extra calories down, we could stay home--(easier sad than done!).  Well as soon as we got back from the lab, she ate snack as well as some high calorie juice and just could not keep it down.  She had also been way more sleepy than normal.  The on-call had no hesitation in her voice--we had to bring her in.  So it seems that we could add February 14th to a list of dates that Alexa would spend in the hospital.  But you see, yesterday was not only Valentines Day--more importantly it was Alexa's big brother, Stefano's 13th Birthday.  It saddens me to say that Stefano at times gets overshadowed by his little sister and her UCD.  We really try not to let it happen like that, but when she ends up admitted to the hospital on HIS b-day....



That she had to send a video message to him instead of saying happy birthday in person, that Stefano had to worry about his little sister in the hospital instead of basking in the glory of HIS day.....add this to another reason life pissed me off.

Stefano Morales, it has been a pleasure to watch you grow into the wonderful young man you are becoming.  Alexa and I love you very much and hope that you had the most amazing 13th birthday!




And then we spent the night at the hospital--and it seemed that was what was needed for me to be grateful of  a couple of things.
1)Alexa has a pretty bad virus and through it all, her ammonia's came back at 18 and then 9!  Metabolically could not be better--So while we lost out on our liver; at least we can wait in the comfort of our home knowing that my girl is stable!  Our transplant nurse emailed yesterday and let me know that we are VERY high on the list! Our time will come and when it does, it will be the perfect fit for Alexa!
2)I have amazing family and friends.  Friends that call or text me right away to offer support--telling me things that are way too inappropriate for here but exactly what I need to bring a smile to my face while it is covered in tears of frustration.  Friends and family who come to visit and help out while we are in the hospital.  At one point we had about 6 people in our emergency room (other than Alexa).  One of our dear friends was even kicked out (as the IV team was in with Alexa) but that didn't stop her from hanging out to sneak in a visit and offer support when the coast was clear!
3)This UCD life we inherited, has led me to some wonderful friendships with other parents of children with UCD's as well as others who have a UCD themselves.  Thank you Mark Zuckerberg, for this is not a luxury others before us were granted.  We worry when any of our kids are not doing well, stay up to wait for ammonia numbers, offer support and a judgement free zone when we just want to vent.  For their unending support, I will be eternally grateful!  In HSC, I met another UCD mama (in person as opposed to on facebook).  Her son was there for a regular clinic appointment and while there was not much time to talk as we had to be back for rounds, I am so happy to have met another family who we will one day be more than happy to offer the same support I have gotten over the years should they ever need it!

I am not going to lie--I am still not overly happy with the way things worked out this week, but at least I have a bit more of a positive outlook.  Life is full of ups and downs--this one is just a little more down than I would have liked it to be.  Next week will be better--I am sure of it!
And a picture to show how happy we are to be home!

Cleveland--February 2013

Here are a couple of pictures of Alexa and her favourite geneticist:

And some more of her posing as she often likes to do:

A Bittersweet Goodbye

Today was our last appointment in Cleveland for our 1 year HPN trial medication.  We have travelled there 9 times over the last year.  Some Alexa and I took a flight, but most we opted to drive so that Christian could come with us.  According to mapquest, door to door should take just over 5 hours, but that does not account for travelling with a preschooler who must eat at a certain time, take medication and formula at a certain time, use the bathroom frequently, etc.  We never make it in less than 6 hours.  Last night we drove through pretty terrible weather with little to zero visibility.  It was really scary and we did not arrive until after 11:30pm.  We were all exhausted to say the least.

I am excited to not have to make that drive again.

But our team at Cleveland are SO wonderful, that it really was a sad goodbye!

You see, we had MANY hurdles to overcome to get into the trial.  To start off, let me explain that Alexa was 14th on the list to get into the trial.  They were accepting only 8 children into this trial, so chances were slim, but by some grace we were able to get in!  Since we were in quite late, arrangements had to be made very quickly.  We were all set to fly off on Monday. The Thursday prior, I received a call from the coordinator informing me that they put a hold on Alexa participating in the study.  The legal team at Hyperion were concerned with the logistics of a Canadian travelling to the USA to pick up medication that had not been approved and taking it back over the border.  I WAS DEVESTATED!!!
However, the next morning, I received a call from Dr. McCandless, the lead investigator for the trial in Cleveland, informing me that he had spoken with Hyperion and knew what needed to be done for Alexa to participate in the trail....he made all the arrangements with our team at Sick Kids as well as with Hyperion.
It would have been very easy for him to just go to the next person on the waiting list, but he would not have it!
He was our hero!

Once in Cleveland, the entire team, from coordinator, to nurses and doctors have been nothing but fantastic with us.  They went above and beyond to ensure that we were always taken care of.  As many have heard, nurses have an extremely hard time getting blood access.  The very first appointment we had, nurses tried about 4 times with no luck.  They were no longer willing to attempt.  If they couldnt get a sample, we could not participate, so Dr. McCandless arranged for a doctor from the critical care unit to come up with his portable ultrasound to ensure that we get a good sample at first attempt.  Well it worked! And from then on, at every visit, Dr. Dave met us in the research ward with the doplar to do the poke.
They really are incredible!!!

So as happy as I am to now get to go to Toronto for the long term trial, I was extremely sad to say goodbye to such a wonderful team.  We will forever be grateful to them for changing our lives with this great new medication!

Coincidentally, just after we signed all our papers, switched into the long term trial, transferred documents to Toronto, and got our 6 month supply of medication, came the most wonderful news!
The FDA announced this morning that they approved HPN 100 for ages 2 years +,  and it will now be known as Ravicti.  This is news that has been 10 years in the making! It is going to change the lives of UCD patients everywhere and am so grateful to have been a part of the process.  When I heard the news, I literally had to hold back tears!
There are a lot of questions now about when it will be available to patients, etc, and that information will come out shortly I am sure, but for now we celebrate a victory for UCD patients.

Cheers to all my wonderful UCD families!