A letter from Professor Alfried Kohlschuetter

I am very grateful for the magnificent work that Elisa Seeger, Jean Kelley, Janice Sherwood, Gina Cousineau and many others are continuing to do in getting New Born Screening (NBS) for ALD throughout the United States and the resultant success. The rest of the world is awake and working on their individual country’s requirements to achieve NBS.

Professor Kohlschuetter and I have been steadfastly working on overcoming a major issue in regard to this program. There is a global tendency to only want NBS if there is a known cure. I have attached a letter that has been developed to give us some powerful patient data to resolve this issue.

We desperately need your help please! Will each of you read this letter and respond in a frank manner to either or both of the mentioned contacts please. I implore you to take a few minutes to give us your thoughts as it will contribute to the NBS programs in other countries around the world.


To Be of Use

To Be of Use

by Marge Piercy


The people I love the best

Jump into work head first

Without dallying in the shallows

And swim off with sure strokes almost out of sight

They seem to become natives of that element,

The black sleek heads of seals

Bouncing like half-submerged balls.


I love people who harness themselves, an ox to a heavy cart,

Who pull like water buffalo, with massive patience,

Who strain in the mud and the muck to move things forward,

Who do what has to be done, again and again.


I want to be with people who submerge

In the task, who go into the fields to harvest

And work in a row and pass the bags along.

Who stand in the line and haul in their places,

Who are not parlour generals and field deserters

But move in a common rhythm

When the food must come in or the fire be put out.


The work of the world is common as mud.

Botched, it smears the hands, crumbles to dust.

But the thing worth doing well done

Has a shape that satisfies, clean and evident

Greek amphoras for wine or oil,

Hopi vases that held corn, are put in museums

But you know they were made to be used.

The pitcher cries for water to carry

And the person for work that is real.


Words for the New Year

Another year has come around and like all New Years it brings many changes, hopes, fears and opportunities. As an almost silent contributor I would like to change that this year and particularly for those with any Leukodystrophy or life restricting disorder or disease. For those who have recently received the news that themself, or a loved one or ones have been diagnosed with an incurable disorder I send you the promise that you will be supported and loved now, during and always. There is nothing fair about this diagnosis; nor are there words to act as an analgesic for your indescribable pain.

For all those who are struggling tenaciously with the day by day, hour by hour, and minute by minute acts of love, which keep your loved ones, clothed, fed, medicated and nurtured I honour you. Whilst you would have it no other way and feel that it is the least you can do, it is very tiring both physically and emotionally. I would that you receive sustenance from all those that love you.

There are also many whose lives are now committed to discovering a new place to find their loved one. It is not a short sojourn but a progress with much pain, tears and an eventual destination. It is one that is taken individually but shared collectively.  The fare is the price of your love.

I, the Australasian Leukodystrophy Foundation and the Leukodystrophy Resource & Research Organisation Inc. commit to supporting you at every level that you experience. There is a very strong base of knowledge that can support you emotionally, financially, spiritually and with an enviably high level of knowledge of all the Leukodystrophies throughout Australasia.

ALDConnect Announcements – 11.12.2015

Has your child with CCALD received an allogeneic HSCT in the last two years?


If so, please ask your physician about the ALD-103 Study (Protocol), a new data collection study that is now open. The purpose of the ALD-103 Study is to better understand the safety and efficacy outcomes of the standard of care treatment for CCALD–allogeneic hematopoietic stem cell transplant (HSCT).

Participation in this study should not be burdensome to patients or their families since it is focused on data collection.

Rememebr- November is ALD Awareness Month!

Change your profile picture on social media to the ALD awareness month image in support of ALD and to help raise awareness.

To download and save the image, click here.


If you do not know how to change your profile picture, click here.

Next Patient Learning Academy

If you have not yet taken our survey for the next Patient Learning Academy planned to take place in February 2016 in Texas, please take a moment and fill out this short survey.

Please share this with anyone who may be interested.

Click here to take the survey

If you have any questions, comments, or concerns regarding content presented in this message, please contact us at admin@aldconnect.org

ALD Connect | 617-643-4218 | admin@aldconnect.org | www.aldconnect.org

ALDConnect Announcements – 10.22.2015

ALD Connect 2015 Annual Meeting is up on line!

Watch all presentations now and ask us questions on Monday 11.02 at 2pm EST during our annual meeting follow-up webinar.

Presentations given at the ALD Connect Annual Meeting are now available for viewing on the ALD Connect website.

To view items from the annual meeting Click Here

ALD Connect will be holding a webinar on Nov. 2nd at 2pm EST to allow for more question & answer time for those who could not attend the annual meeting in person or watch in real time.


Monday, Nov.2nd at 2:00pm EST


October 22 – Regulatory, Scientific, and Operational Advantages of Collecting Clinical Outcome Assessments (COAs) Electronically in Clinical Trials

ERT scientists will review the benefits of collecting clinical outcome assessments (COAs) in clinical trials electronically rather than on paper.

Learning Objectives:

  • Address some common objections to using eCOA systems
  • Review the regulatory, scientific, and operational benefits of choosing an eCOA data collection strategy
  • Summarize the growing evidence and experience from pharmaceutical companies that have successfully used eCOA to support labeling claims

October 28 – From Standards to Risk-Based Monitoring-Executing a Successful Spirometry Trial

As respiratory clinical trial protocols become more rigorous, and sponsors increasingly strive to meet regulatory requirements for precise endpoint measurement, how can technology and process optimization ease site burden, enhance efficiency, control costs and generate the highest quality data? Join us in this informative webinar to explore how the right mix of software, training, central overread, risk monitoring and other elements seamlessly come together to empower investigators and clinical trial stakeholders.

A case study based on historic and ongoing Asthma and COPD clinical trials conducted by a large global pharmaceutical company will be presented, demonstrating how high quality spirometry, cardiac safety, clinical outcome assessments (COA) and other critical endpoint data is being captured, optimized and leveraged. ERT’s historic performance against Metrics Champion Consortium key respiratory trial performance metrics will be shared, along with a live online demonstration of ERT Insights Cloud and our Centralized Surveillance for Respiratory Risk-Based Monitoring solution.

Register Now Oct. 28, 2015 – 10:00AM EDT

If you have any questions, comments, or concerns regarding content presented in this message, please contact ALD Connect at info@aldconnect.org

Gene Therapy — The time is now: Nick Leschly at TEDxBoston

“Forget the price. What’s the value of that treatment?”

What if we could fix a patient’s own cells and cure their disease once and for all instead of treating a chronic illness over their lifetime? The solution exists, but it’s expensive. Nick Leschly, chief bluebird, explains how biotechnology can deliver corrective genes into a patient’s diseased cells and disrupt the medical and insurance industries along the way.


Nursing Research Topics

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ALDConnect One Page Summaries

What is ALD?

  • ALD stands for Adrenoleukodystrophy
  • This combined word is made up from – Adreno – Leuko – Dystrophy
  • Adreno refers to the Adrenal Glands which are found on the top of each of our kidneys
  • Leuko is the Greek word for “white”
  • Dystrophy means a medical condition in which part or parts of our body become weaker
  • ALD is a genetic disorder which we mainly inherit from our mother as it is X-linked which means that it comes from an X Chromosome. It can be inherited from the Father however they can only pass it on to their daughters. Mothers have two X Chromosomes  whilst fathers have one X and one Y *
  • ALD is a genetic medical disorder which is caused by a faulty gene (mutation) that cannot complete its task as it should and this causes an abnormally large build up of Very Long Chain Fatty Acids (VLCFAs) in our Adrenal Glands (Adreno), Brain (Cerebral) and Blood Cells. Our brain cells (Neurons) which send messages to our body have a protective white (Leuko) coating on them which is known as Myelin and it is destroyed by the very high amount of these acids which also causes the nerve cells to die
  • ALD has a number of forms which can affect both male and female. Cerebral ALD can affect young boys, male teenagers and male adults, however it is mainly found in young boys
    • Childhood Cerebral ALD (CCALD) which mostly affects the brains of our children aged between 4-10 years
    • Adrenomyeloneuropathy (AMN) is the name that ALD is known by when it affects males from teenhood up to adulthood. It chiefly affects the spinal cord and rarely the brain
    • Female ALD is also known as Adrenomyeloneuropathy (AMN) and affects only those mothers that carry the faulty gene. Its symptoms are serious but much less severe than the male form of AMN and can occur from late teens onwards **
    • Addison’s Disease is caused by the damaging build up of those Very Long Chain Fatty Acids (VLCFAs) in our Adrenal Glands which stop them making the necessary amount of chemicals ( hormones ) for our body to operate properly. 80% of males with ALD will have Addison’s Disease whilst 10% will actually be diagnosed with ALD because it was identified by their doctor.

*Please refer to Information Brochure How is the ALD Gene Inherited for more detailed information

**  Please refer to the information Brochure Symptoms for more detailed Information

Read more

ALDConnect Announcements – 9.16.2015

Early registration for the ALD Connect Annual Meeting ends TODAY!

Wyndham Boston Beacon Hill Hotel
5 Blossom Street, Boston MA 02114

Meeting Agenda

Patient Hotel Scholarship

Patient Travel Scholarship

*Registration fees will increase starting September 17th, 2015.


To book your discounted hotel room
please call 617-724-7630 and reference
‘ALD Connect’ for the discounted price
or CLICK HERE and book online.

*Discounted hotel room block extended
a second time until Thursday, 9/17

ALD Connect

ALD Connect Webinar – Where are we now? What will 2016 bring?

This ALD Connect webinar will review ALD Connect structure, progress, and future plans. The webinar will cover work achieved and planned by all of the work groups and will be open for attendee questions & feedback at the end.

When: Friday September 25th 4:00pm EST.

CLICK HERE to register for the webinar.

Community Congress

Community Congress: Newborn Screening Working Group Webinar

This ALD Connect webinar will review ALD Connect structure, progress, and future plans. The webinar will cover work achieved and planned by all of the work groups and will be open for attendee questions & feedback at the end.

When: Wednesday, September 23, 2015 2:00 PM – 3:30 PM EDT

CLICK HERE to register for the webinar.


Support Amanda- a mother with a son affected by Krabbe, by getting your own fun Jamberry nails!


My name is Amanda and I am a stay at home mother and caretaker. I have two children, and couldn’t love them more. My husband is my best friend and I just take life day by day. I look so forward to assisting you with shopping for Jamberry wraps and whatever else you may need. My son Blaine has a rare and fatal disease called Krabbe Leukodystrophy. I am his caretaker. He has helped me understand the true meaning of life. <3

Nails designed by Amanda for leukodystrophy month!

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Get Jamberry nails!