Reflections on the 1st International Conference on Glycoprotein Storage Diseases

A Piece of Bad News...and A Piece of Good Luck!
by Sonja Woolley
Alpha-Mannosidosis Parent

My name is Sonja Woolley and I live on the outskirts of London in the UK with my husband Martin, our five year old son Reuben and our daughter Saffron (Saffy, Princess Peach or Nutjob – according to behaviour) who has just turned three.

We took a body blow in late February of this year when Saffy was diagnosed with Alpha Mannosidosis. Whilst we were reeling from this news my sister Paula, more pragmatically, found the wonderful ISMRD website, learned about the forthcoming conference and started correspondence with Paul Murphy. Challenged by her commitment that if we didn’t travel to Rockville she would do so on our behalf, we booked our tickets and prepared to educate ourselves in a disease that very few doctors had any knowledge of.

It should be stated that our biological, or for that matter scientific, knowledge is extremely scant. For my part I had never even heard of the lysosome and had to raise a quizzical eyebrow when a local health professional commiserated with me on my daughter’s metabolic disease – I had no idea she had one!

A quick glance at the agenda for the conference ensured us we would gain a swift and expert introduction to the specifics of Saffy’s condition, but for us the greatest pull was the chance to meet the other Alpha Mannosidosis children and their families. The state of Saffy’s glue-filled ears made a pressurized cabin quite out of the question, so we reluctantly left the children at home.

Conference Highlights

Moments of hope

• Charles Peter’s presentation on the positive effects of BMT’s on Alpha Mannosidosis children felt like someone had just turned the lights back on.
• Learning that the mental deterioration had been halted and some of the physical symptoms lessened amongst his patients started a dream which still gets me out of bed every morning.
• Emil Kakkis’ presentation about the fantastic results of Enzyme Replacement Therapy in MPS kids gave great hope for the future ….. and brought home just how important having money is, even where it should matter least.
• Meeting Danielle Forsman, whose daughter has Alpha Mannosidosis, is a year older than Saffy and is now over 6 months post transplant. Danielle was a fantastic source of information and inspiration!
• Morton Cowan gave a presentation which simplified the bone marrow process and then had the generosity to sit with myself and Martin for over two hours while we fired questions at him!

Moments of awe

• Being told that the gathering of 16 parents/relations/carers of Alpha Mannosidosis children was the largest ever in the world was staggering. Our 5 week thirst for knowledge paled into insignificance by the stories we heard of misdiagnosis, bungled opportunities and misplaced advice.
• Marc Patterson and Dag Malm giving brilliant presentations to the family conference on the more practical issues of actually dealing with our children’s diseases day-in and day-out.
• Kelley Moreman being smart enough to make us all think understanding storage diseases isn’t that hard!
  

Moments of mirth

• Following the first morning of advanced bio chemistry we were able to assure the French mum, Anne Grégoriadès, sitting behind us that her lack of English may not be the barrier she anticipated – we hadn’t understood a word that had been said either!
• And finally, and undoubtedly at the forefront of my mind John Forman serenading myself and Martin in the Doubletree bar with an unmatchable edition of “You’ll never walk alone” – ably accompanied by the giggles of Jenny and Paul Noble! Thank-you John!

Our recent diagnosis, Saffy’s age and relatively mild symptoms to date all put us in a unique position at the conference. We had come seeking the answers to many questions and we had found them. We had boarded the plane to Washington D.C. considering ourselves unusually unlucky and very isolated by the rarity of Saffy’s condition. Six days later (and with considerably more luggage courtesy of Toys-R-Us) we started our trip home feeling that the hard work of the scientific and medical professions meant that we had options to vastly improve Saffy’s life. Mainly we knew that the commitment and dedication of a group of parents in realising this conference, some that have been cruelly denied our options by time alone, had left us with a debt we will never be able to repay.

Postscript: Upon returning to England following the conference Sonja and her husband, Martin, began the process for Saffy to undergo a Bone Marrow Transplant. The transplant was performed at London's Great Ormond Street Hospital on December 8, 2004, a little more than nine months after Saffy was diagnosed with Alpha-Mannosidosis. You can read a chronicle of the BMT online at Saffy's BMT.