Reflections on the 1st International Conference on Glycoprotein Storage Diseases

A Home At Last!
by Brenda Haggett
Mucolipidosis III Parent

Well, where to begin? My name is Brenda Haggett and my husband John and I have a little boy named Zach who was diagnosed with Mucolipidosis type III, or Pseudo-Hurler Polydystrophy, just about a year ago. Getting a diagnosis was not a surprise to us, as we had been told the morning we were to leave the hospital with our newborn baby that there was speculation that something was seriously wrong with him. We were robbed of the genuine happiness our first born should have given us. Instead, we were enveloped with fear as to what might be wrong with this seemingly beautiful and quite perfect little boy we had waited nine long years to welcome into the world. We had been thrown into parenthood on guard and on defense from day one. So began the several years long journey to finding an answer.

It was May 2003 and my little trooper was now 2 years old, and making incredible strides with the daily visits from Early Intervention therapists. They quickly became the support and confidantes that John and I so desperately needed! It was they who exalted and delighted in the triumphs Zachie made, albeit much later than all his peers and our peers children, but equally amazing and triumphant in our eyes!!!! We were so sure that he would persevere no matter what the doctors came up with. So it was at this point. having finally became comfortable with the fact that our son was only "globally delayed" for unspecified reasons, that we had our bi-annual visit to the Genetics clinic. For 3 years, both John and I attended each and every visit together and heard nothing but the same: "well, he looks great so go home and we'll see you again in six months." Today was the first time I had ever come to a visit alone, as John had a conflict at work. Of course, this had to be the day I was told that they saw significant changes in Zach and needed to do some lab tests to confirm what they believed to be a diagnosis of MPS (Mucopolysaccharidoses).

I was utterly shocked and terrified to say the least! We went through the gamut of blood tests and urine samples only to hurry up and wait two very long weeks. Of course after sharing all of the gory details with my husband, the first thing we did was submerge ourselves into internet research of this "MPS" title. Anyone who has any knowledge of this cruel and unwaveringly incurable disease, can no doubt understand how unbelievably shocked and mortified we were to learn that our baby had this deadly disease. The days and hours couldn't go by any slower. Just a week after the labs were sent out, my husband had an out of town business trip for three short days that just also happened to be Mother's Day weekend. The mere thought of my child having such a life threatening illness immediately put every little thing in life into perspective. To this day, I have to thank God for at least allowing me to see these truths so as to be able to truly cherish every single moment that we share with each other. I couldn't have enjoyed every moment of that Mother's day more except maybe if John had been there to enjoy it with me. The following day it was back to business as usual and we were in the midst of physical therapy when the phone rang and I the heard the worst set of words in my life. "Mrs. Haggett we have the results from your son's labs and he has a lysosomal storage disorder. The good news is that it is one of the milder ones, not MPS, but ML." I remember them wanting to set up a meeting the next day and telling them I couldn't have one until my husband returned which was not for several days. When I hung up the phone, the first day of the rest of our life began.

Life had never been sadder or more depressing than the next few months. We immediately did what I suspect just about every other parent does when newly diagnosed, assumed the position of fight or flight! In our case it most definitely seemed to be Fight! We became members of the National MPS Society and received all the information we could and searched nightly on the internet for everything ever published about Mucolipidosis (which we sadly we discovered was not very much)!! I made contact with another ML parent who was the first person that had any clue of what ML was! She was truly a lifeline for both of us. She helped us address our fears and feel as though we were not alone. Even with that one contact, however, we were alone in our own city where not even our doctors had experience with ML. This is not surprising, as there are probably less than a dozen affected children here in our country, and maybe a little more than that around the entire world. I must give credit to the MPS Society for having the bulk of information available to newly diagnosed families in search of answers. I must also be honest when I say that I really did not find much in the way of family support, due to the mere fact that there are so few children affected by ML.

To which I can now say my husband and I have finally found!!! All in part to ISMRD!

I do have to thank the MPS society for making our connection to the ISMRD possible. I received notice that the ISMRD would be broadening their organization's umbrella to encompass more rare genetic disorders, and to our astonishment, that included both Mucolipidosis II (I-Cell Disease) and Pseudo-Hurler Polydystrophy. I couldn't get to the ISMRD website fast enough to find out more! I then received the brochure informing us of the upcoming first ever conference. It promised the latest information on current research from professionals from around the world. After nearly a year of searching high and low for some sort of promise in the area of research and not being able to get a straight answer out of anyone in our immediate care, it took us all of maybe three seconds flat to decide we WERE coming!!!!

April couldn't come soon enough and the idea of actually meeting other families with ML couldn't be more exciting! When we first inquired about how many ML families might come we were told maybe three. Well, that was two more than we knew right now and was the best news we had heard in almost a year! So we were off, and after nine long hours in the car with a very exuberant three year old we were ready for sleep. Luckily enough we were blessed with having the company of our family "Rock", John's mother, who came with us so we would not have to worry about Zachie while we were in sessions. We began the next morning registering and getting our agendas for the next few days when to our delight, Paul Murphy pointed us in the direction of our new “family!”

There they were: the ever experienced couple with two adult children with ML and the mother of a little boy a few years older than Zach, a beautiful little girl and a handsome young boy who all looked almost identical to our son, all equipped with pictures and hugs to match. It was instantaneous. The wall we had spent a year sheltering ourselves behind from even our closest friends came immediately tumbling down. They know, they understand, they are us!!! I can't tell you how amazing it was to finally be among someone that truly new my life! It was astronomical. The comparisons were shared, the fears were validated and the bond had been forged!!!! We spent the next four days inseparable with one another trying to learn every morsel of information and looking for any small light of hope from these scientific individuals who most certainly dedicate their souls to this work. After the initial “fish out of water” feeling, we began to understand the medical jargon with almost ease and actually felt ourselves compelled to push them even further. I am most confident that some of these doctors had second thoughts when the newly formed clan of ML families besieged them with our thoughts, ideas and concerns concerning research and possible treatments for our children. I think the most wonderful moment was when I realized that these people did not get upset with our anxiousness; they were actually refreshed and possibly even moved by our steadfastness and love for our children. They wanted to be here to meet with parents and see our children. This has never been the experience with any doctors prior to this. I have never been in the same room with so many people that actually wanted the same for my child as I myself do: a cure, nothing more, nothing less. This is by far the most incredible and moving feeling I think any parent of a child with special needs, much less a rare disorder, could possibly experience.

There were so many moments like this, though, throughout the conference. As we sat awaiting the topics that applied to our disease, we got the opportunity to learn about other rare diseases and realize just how similar the feelings of hopelessness and drive toward a cure are among each of our equally rare disorders. This may be the most defining point of the entire conference in that we all share the desire to find a cure for these innocent children and the only hope they have is what evolves from our drive to find the answers! This is what I myself brought away from this wonderful experience: that we can defeat these disorders, maybe not in time for our own children but possibly the next generation of those afflicted. This can be done if we work together for the sake of all of our children and stand as a united front against these disorders. I really am so honored to have been given the opportunity to express my concerns and hopes for the future and feel very united with not just the ML families but all the families we met at the conference.

Upon leaving this conference, full of so much hope and promise for my son's future, I couldn't wait to attend the next conference and visit with all of our new allies. Since returning home, we have kept in touch with all of our new family members almost daily thanks to the Penguin Café on the ISMRD website. This website has quickly become a daily ritual in our household and even more than that a feeling of community with the capability of becoming a way to become more involved in what I believe is truly where my heart is destined to be. We have the resolve to be globally connected and become an even stronger voice within the research community, if we can all just work together and do our part. I hope that everyone will take a few minutes to check out the Café and see just how much it has changed and how much support it can offer your family. I truly feel that we can achieve great things through ISMRD, which to me is a vehicle of hope and future flight for all of our beloved penguins!