Lamb-Shaffer Syndrome Research Fund

                                       Stella's Story

As a parent, there are a million things you pray and hope for your child each day. You hope they become kind, thoughtful people, who genuinely have an interest in and for others; you hope that they become smart and savvy enough to care for themselves one day, and more so become successful at it; you hope they give and receive love that empowers them and makes everyone around better for it; you hope they live a long and healthy life, filled with laughter and as little hardship as is necessary.

But one of the things that never crosses your mind, or definitely never crossed mine, was what happens when your child, your beautiful miracle of life, is not given the minimum requirements to achieve some of this, and there is absolutely nothing you can do to change this.

This was, and continues to be, the situation my husband, Matt and I found ourselves facing in October 2017 after an emotional year and a half journey of trying to find an answer for our daughter, Stella’s, significant developmental delays.

As we sat in a tiny room, cramped with as much family as we could possibly fit in there, through an other-worldly fog, we heard the geneticist try to explain something called Lamb-Shaffer Syndrome and our dreams of having a ‘normal’ child faded from view forever.

Lamb-Shaffer Syndrome is an extremely rare, non-congenital genetic disorder that was discovered in 2012. It is a deficiency of the SOX5 protein, which is made up of 764 amino acids. Stella only has 36 of these. This means that only a portion of the gene’s intended protein gets synthesized due to the inactivation of one copy of the gene. Because of this, children with Lamb-Shaffer have a form of Global Developmental Delay, an intellectual disability and other disorders associated with it. It typically manifests itself when toddlers fail to meet important developmental milestones, including walking, talking and acquiring social skills. Stella failed to meet these milestones at one year of age, which began our path to find the cause.

What happens when you get a diagnosis is equal parts relief at having some type of an answer, even if it’s not much, and pure trepidation, now that you know that ‘thing’ you thought (and prayed) your daughter might grow out of, is here to stay…and you don’t really know what it means.

Well, we REALLY want to change that.

We were so fortunate to find Dr. Lefebvre through the Lamb-Shaffer Syndrome Facebook Page. Dr. Veronique Lefebvre is a Research Professor at the Children’s Hospital of Philadelphia and University of Pennsylvania. She and her team have devoted their careers to the SOX gene family. They have contributed to demonstrate that these genes are master regulators of cells and that mutations in these genes cause severe human diseases. One of their current projects is devoted to Lamb-Shaffer Syndrome with a research goal to uncover how SOX5 participates in neocortex development; how SOX5 insufficiency affects this process; how to increase the activity of the SOX5 gene itself and the activity of genes that functionally partner with SOX5. They have started to build essential experimental platforms, namely with a mouse model for the disease, and to collect promising data on the actions of SOX5 in the brain and other organs. They are fortunate to have cutting-edge expertise and technological means needed to be able to make swift progress in this area of research and start the first step that will help with drug design and clinical trial in a second step.

We are incredibly thankful for all of the love and support we have received from everyone on this crazy journey that is just now beginning. We have been asked time and time again how you can help, so we’ve started this page to request donations to help fund these critical next steps in research to identify treatments for this condition.

Due to the unique nature of Lamb-Shaffer syndrome and the relatively small global population of people who have been diagnosed with it (Stella was diagnosed #32, today there are well over 100 others, with that number climbing regularly), currently it is getting overlooked by charitable organizations, the government and other medical research efforts. We simply can’t get the attention or dollars necessary to search for a cure unless we put our efforts into supporting it. With the increased availability of genetic testing and awareness of this disease, this condition is likely to affect many more families in the future.  Our support now will help these families and their children's future. 

We are very lucky that initial research has already been conducted by Dr. Lefebvre with significant progress being made. However, if we fail to raise the necessary funds to keep their research going, we risk losing the program completely.  It is critical we do everything we can to keep this research effort thriving. In addition, if we can help the team reach some critical milestones in their research, there is a good likelihood that they will be able to qualify for grant funding that will allow the program to go forward on a long-term basis and help many more families in the future.  

Any donation made here is 100% tax deductible. Every single dollar will go directly to Lamb-Shaffer Syndrome research at CHOP (Children’s Hospital of Philadelphia) under the care of Dr. Veronique Lefebvre and her team. Our hope is that with the funds we raise we’ll be one step closer to finding a treatment for this disease, so that when another parent sits in that waiting room and hears the same news, they’ll have more information than we had and more hope for their child's future. 

With our love,

Matt and Jen Venuto

                                                           Stella in her happy place - the pool!