Hey Everybody...

We are just home from the MLD conference last night...thanks Oma and Opa for watching Colin and Stover – we knew they were in GREAT hands. Mac did awesome except for Friday night he had one of his fever, high heart rate, low 02 episodes so he slept in Sat morning and a good chuck of the afternoon in his stander during the meetings...but later on was nice and alert after he caught up on some sleep – and Sat night he slept great.

It’s really hard to explain what it feels like to be in a room FULL of people who understand your everyday life. I have said many times over and over how incredibly blessed we are to have friends and family who make the effort to understand MLD and our family and most importantly Mac and his needs...and accept our family no matter what - we are SO BLESSED. However, there will always be a part of our lives that we just can’t ‘explain’ to others no matter how hard our friends try to understand...and when you look in the eyes of another MLD parent...you know there is no explanation needed. We may all be in different situations...some are single parents...some their affected is their only child...some have multiple affected...some were there even though their child had earned their angel wings...there is a level of comfort when you are among those who understand the disease and its effect on your life...your home life, your marriage, your unaffected kids – this disease can certainly challenge every aspect of your life...all the while your heart is in a million pieces on the floor.

We talk about things like medications for spasms and seizures and secretions...we share ideas on how to stimulate...how to make our kids more comfortable...how to travel...how we sleep next to our kids every night...among tons of other things. For me, just being able to observe how other parents hold their child or interact with them helped me to think of new ways to do things or handle things, etc. Unfortunately...none of our kids are exactly ‘alike’. What works for Mac may not work for another toddler...and what works for another child may not work for Mac – it makes this disease that much HARDER that we all don’t have the perfect answer for every issue that arises. All of our kids deal with the same issues mostly...but each child requires their own solution to some degree.  Our kids are on a lot of the same meds...but again – what works for some does not for another – so there is always a variance.

We got to meet a lot of the kids whose stories we follow and their parents...and I wanted to scoop up every child out of their chair and hold them because I felt like I ‘knew’ them and just wanted to hold them and talk to them. We got to meet the siblings of these kids as well...it made us miss Colin (more than we already did) and next year or whenever the next conference is we will definitely be taking him. The kids did a GREAT job beating the crap out of the MLD piñata and we can’t wait to see it happen again – with Colin getting some swings in next time, too. It always amazes me to see the compassion kids have...theses siblings were no exception – they were amazing with their affected brother or sister...just like Colin is with Mac.  

The conference itself was wonderful and incredibly informative...thank you Dean and Teryn and the MLD Foundation. You do an amazing job keeping us all connected so that we can try to help each other. There were some very specific things I was looking forward to hearing about and all my questions were answered – none with the answer we wanted but at least we understand more now.

In regards to newborn screening...at this point it doesn’t matter how many letters we write to our senator or you write to your local state senator or whoever...there are some pretty significant things that need to happen on the scientific and medical front before newborn screening can happen for MLD. I won’t get into too much detail...but the short of it is an ‘assay’ needs to be created in order to screen for MLD in newborns – it’s being worked on. There is an assay created to test for Gaucher, Krabbe, Pompe, Niemann-Pick and Fabry diseases – all similar to MLD – so hopefully it won’t be far off. NY is the only state that currently uses this assay - and they only test for Krabbe disease due to the concerted efforts of Jim Kelly and his family whose son passed away from Krabbe. (Ex NFL hall of famer Jim Kelly)

As for Enzyme replacement... there is a proposal for Phase 2/3 sitting on the FDA’s desk as I write this...again...nothing at this point we can do to push this along except PRAY!  (This is not the time to bombard the FDA with letters or anything...when the time comes we will let you know!) Last year...the Phase 1/2 trial that went on over in Europe with the presymptomatic MLD kids was basically to prove ‘safety’ and now they are ready to start proving efficacy. It could be over a year before this trial begins and of course Mac is not eligible since he is too far progressed...but we pray it all moves quickly...mostly we pray when they start this new trial that the enzyme they put in creates MIRACLES in the kids who receive it. If I understand correctly...they will be given a higher dose than what was originally given in the Phase 1/2 trials to prove safety.  

It all seems so simple...our kids are missing the enzyme ‘ARSA’ – so just put it back in. The conference helped us to better understand why things are not this easy.  We are not scientists – all of this science is light years over our heads...all we want is for our kids to be better and happy and cured. The doctors at the conference had to deal with parents pleading for timelines and answers when we know it is not in their control specifically...we all want the same thing – a CURE for MLD – and it WILL happen...when is a question we just don’t have an answer to right now.

To all the MLD Families out there reading this...it was really nice to meet you all and we pray for you and your children and their comfort every day. Every Day.

I am very excited to mention that in 2 weeks we will be heading on a vacation! Last summer... we were able to make it down to NC due to the generosity of the DeBorge Family...and this summer – we will be heading down to Ocean City thanks to the equally generous Williams’ Family – THANK YOU so much. Brian and I always ‘talk’ a lot about going on vacation...but if it were left up to us the summer would come and go...with no vacation taken – so to have a week handed to us basically...it’s like a gift all wrapped up and ready to go – we can’t say no and we are SO EXCITED! We are going to look for a ‘lazy river’ to float down and hold Mac...and Brian is already trying to figure out how to attach a putter to Mac’s chair so we can go miniature golfing. We also think Mac will love the sounds of the boardwalk and of course listening to the ocean – although we are not going to attempt an actual ‘beach day’ with Mac this year...we are going to stick to the pool mostly...he will still be able to hear the ocean from our balcony and we will also make a visit to get his feet wet! (The actual ‘beach’ was tough last year as the sun just beats down on you and sand and feeding tubes and suction machines don’t mix well) We are going on this vacation with no real expectations other than to enjoy being out of our house and having fun and taking it easy – thank you, Williams Family – SO MUCH.

Tomorrow we head down to KKI for an appointment with Mac’s doctor, Dr. Levey. We don’t have too many concerns at this point...we are going to ask about rubinol...which is a med used to help dry up secretions – we are still constantly suctioning Mac and we think this med might be able to help with that. There were a couple of kids on it at the conference and it seemed to help...you have to be very careful with it though as it can cause secretions to dry up too much. We’re also going to discuss these random heart rate episodes that are occurring...seems that the elevated heart rate comes before the fever – the fever causing the heart rate to go up makes more sense – so it’s a bit confusing. We don’t expect Dr Levey to be able to tell us what is happening exactly...but we will still discuss it with him.

Thanks for all your thoughts and prayers and support...hope everyone has a wonderful week.

PS – I hope to get some more pics up from the conference this week...I wasn’t able to take too many because we were too busy talking, etc – so I am going to see if I can get some emailed to me from Teryn from the MLD Foundation and post them on our website.