1 in 150 million

One family’s story of an ultra-rare diagnosis, advocacy, and hope

The Diagnostic Odyssey…

Our 10-year-old son, Connor, has Snyder-Robinson syndrome . “What in the world is that?” you may ask. We asked the same question when we first heard about it.

SRS Foundation

Connor has been through a great deal in his decade of life – starting at 2 weeks of age when he was hospitalized with failure to thrive.  He underwent occupational therapy and wore a splint due to camptodactyly (bent fingers). At 3 months of age, he was still not able to hold his head up or to roll and his head became misshapen (plagiocephaly) due to hypotonia (poor muscle tone) and torticollis. He started PT at four months and wore a helmet for skull shaping until his first birthday.

Around 6 months, Connor was clearly not meeting milestones. Lifting his head up while on his stomach was impossible. He would not bear weight on his legs. He hadn’t rolled over and could not sit up.

By the time he was a year old, his pediatrician referred him to a neurologist.  That visit started the seemingly endless series of tests to determine the reason for his low muscle tone (hypotonia) and global developmental delays.

When he was almost 2, he had his first seizures.

With intensive therapy, Connor began to talk at 3 years of age, and eventually was able to take his first steps at 4 years of age. He still requires weekly therapy to maintain his ability to walk, to help his speech and to perform activities of daily living.

We spent countless hours researching Connor’s medical issues to try to get a clue – any clue – about what may be happening with our son.

Connor was examined and tested by at least eight geneticists from four top-notch institutions over the course of our diagnostic journey. Most geneticists agreed that he must have a very rare genetic syndrome, but diagnosing it was not possible.

Finally, when he was 5 years old, his geneticist told us about a new test called whole exome sequencing or WES. WES examines the coding regions of all of the genes, looking for a mutation wherever it may be. Maybe this would finally be what we had been hoping for.

The week before Connor’s WES test results came back, we had agreed that we would stop searching for a diagnosis for a couple years if the WES test did not provide an answer. The roller coaster of emotion had proven too much, and we were ready to take a break.

The diagnostic journey had been exhausting, filled with highs and lows. The highs were a result of finding out that he did not have a whichever condition he was being tested for at the moment. The lows stemmed from the utter disappointment of not getting an answer after every test result came back. The lows were also caused by never knowing if we were doing enough. Were we taking him to the right doctors or institutions? Were we asking the right questions?

Shortly before his test results came back, Connor fell and broke his arm, both bones just below his elbow, in half. It wasn’t his first, he had a skull fracture at age 2, and foot fractures at 3 and 4. The ER doctors who treated him searched our faces and found true anguish, or they would have called child protective services. A break like that normally didn’t happen from tripping and falling, as we had claimed. We did not know he had severe osteoporosis. A week later we found out that his bones are as fragile as those of a hundred-year-old woman.

Four months after the WES test was ordered, the test results came back and showed that he had a mutation in the SMS gene which causes Snyder-Robinson Syndrome.

The end of the diagnostic odyssey. The beginning of hope…

To us, not knowing what your child suffers from is more painful than finding out that he has an ultra-rare genetic syndrome for which there is no cure or treatment. Connor was the 21st person to be diagnosed with SRS in the world. We were the 3rd family in the United States. His diagnosis has changed our lives and taken us in a completely different direction, as a family and as individuals. We now had something to focus on to be able to help our son overcome some of his many challenges.

 It had a name, and it could be researched. That, in and of itself, seemed like a miracle.

Once we knew Connor had SRS, we immediately learned that Dr. Charles Schwartz and Dr. Roger Stevenson at the Greenwood Genetic Center were the leading SRS experts in the world. I remember the day we reached Dr. Schwartz like it was yesterday. We spoke to him and soon planned a trip to Greenwood, SC to take Connor for evaluation and to meet the first family to be diagnosed with SRS. The day we met the other family and our sons interacted for the first time was incredible!

Within a year of Connor’s diagnosis, we, along with the parents of five other boys diagnosed with SRS, formed the Snyder-Robinson Foundation  (SRF). Our mission was to advance medical and scientific research of SRS. Three years later, the SRF has helped to fund four SRS research grants and a pre-doctoral fellowship, and we’ve launched a Natural History Study. The SRF also was able to, through its website and social media, bring people with SRS together from all over the world. There are now approximately 50 people diagnosed with SRS in over 16 countries.

Our work with the SRF provides a vehicle by which we can dare to hope for a treatment or cure for SRS. The SRF is the only patient advocacy organization for SRS, and within a short amount of time, it has accomplished quite a bit. We are very fortunate that the parents and family members who serve on the Board of Directors of the SRF are extremely dedicated and talented individuals. We are proud of the work that we do, we are happy to be a resource for newly diagnosed families, and we are extremely hopeful that one day there will be a treatment that will help everyone diagnosed with SRS.

What SRS means to our family

SRS impacts us as a family in many ways. First, we now spend a lot of time working on the Foundation, going to conferences, fundraising for SRS research and reaching out to newly diagnosed individuals.

On a more personal level, our family dynamic is very different than most families. One of us is constantly caring for a child with unique medical needs, which can be daunting at times.

We do manage to travel sometimes, though our experiences are limited to what Connor can also do and what he can tolerate. Connor’s needs have to come first in almost every situation. This can take an emotional toll on a family, trying to maintain parity among siblings can be difficult.

We are also in a constant state of vigilance, trying to maintain Connor’s safety in different settings- at school, with caretakers, while traveling and in our home. He requires almost constant supervision and needs assistance with all activities of daily living – bathing, dressing, toileting, eating, etc. When he is ill, this is only heightened and can be frightening because there is so much that is unknown about SRS.

Despite these limitations, we try our best to provide as normal a life for all of our children as we can. We do what most parents do – we love our children unconditionally and try to provide for their needs while keeping them healthy and happy.

Moving Forward Towards a Cure

In December of 2017, the Greenwood Genetic Center tried something new. They gathered brilliant scientists, doctors and researchers together for a day and a half to brainstorm and collaborate. Such an event is unprecedented in the rare disease world, to my knowledge. The workshop was followed up with the white paper detailing action steps toward a treatment or cure.

When your child’s rare disease is 1:150,000,000, it is truly astounding that this event came together with such promising results. 

We are so grateful to Drs. Charles Schwartz and Roger Stevenson who have gone above and beyond expectations for championing SRS throughout the years. After we received Connor’s diagnosis, our visit with them at GGC felt as if it were a homecoming of sorts. They had arranged for us to meet the other family with SRS and to spend time with them at a pool to get to know one another. This was a tremendous experience, knowing we were not alone in the world – that our son was in great company.

Ever since that meeting, Charles and Roger have persevered in their SRS research and connecting with families worldwide. We met them a year later when they were on their way to visit a newly diagnosed family far away from GGC.

Their dedication is almost as rare as SRS, in my opinion.

SRS Foundation

If your child is diagnosed with an ultra-rare genetic disorder, you could not be more fortunate than to have experts like Drs. Schwartz and Stevenson working on the disease research. We thank them profusely for their past work and their current ground-breaking work, and are so very hopeful to see where their collaborative projects with the others involved in the workshop will lead.

Michael Raymond and Katia Luedtke are Connor’s parents. Michael serves as the Executive Director of SRF and Katia is the Legal Counsel and Secretary of the SRF. 

Are you taking your folic acid?

Are you taking your folic acid?

Supplement in vitamins

Well, maybe not, according the results of a recent SC telephone survey by the SC Birth Defects Prevention Program. In 2017, the Program conducted a random telephone survey of 1008 women of childbearing years (ages 18-45) to assess their knowledge of folic acid and use of multivitamins finding that only 30% of women surveyed knew about the importance of folic acid and were taking it regularly. That is a significant decline from 54% of women in a similar survey done just ten years ago.

Let me back up – for those who aren’t familiar with folic acid – it’s a B vitamin, naturally present in foods like leafy green veggies, beans and avocados. It’s generally good for you with all sorts of benefits including improved cardiovascular and mental health. But the main reason to know about folic acid is its ability to prevent birth defects.

Woman eating salad

In the 1980s, Dr. Dick Smithells, a pediatrician in the UK, discovered that folic acid significantly lowered the risk of recurrence of severe birth defects of the brain and spine among women who had a previously affected infant. These defects are known as neural tube defects or NTDs (spina bifida, anencephaly, and encephalocele). It was later demonstrated that women who take a supplement with folic acid can prevent not only a recurrence of NTDs in their future children, but that low risk women can prevent the first occurrence by taking this vitamin.

Further studies confirmed Dr. Smithells’ work, though for over a decade it was thought by the medical establishment to be too simple of an answer to be an effective prevention.

In the early 1990s, the utility of folic acid for birth defect prevention was accepted, and the CDC funded prevention programs in both SC and Texas, two states with a high incidence of NTDs. Through educational outreach programs encouraging all women of childbearing age to take 400 mcg of folic acid daily (and even more if they had a prior affected pregnancy) the SC program, based at the Greenwood Genetic Center, has reduced the incidence of NTDs in the state by 60%. Saving millions of healthcare dollars each year and even more importantly, leading to 70 more healthy babies in our state annually.

So back to the survey, if fewer women are taking folic acid, are the rates going back up?

Well, no, and that’s great news! But why not?

Well, there’s more to the story. GGC co-founder, Dr. Roger Stevenson, and others worked with the FDA to mandate the fortification of cereal grain flour with folic acid. So since 1998, folic acid has been added to breads, pastas, cereals, etc. The amount in the fortification (140 mcg per 100g of milled flour) doesn’t meet the recommended 400 mcg, but apparently it has been making an impact. So it seems that a combined effect of folic acid supplementation (with multivitamins) and folic acid fortification (in grains) is doing a pretty good job.

However, while the rate of NTDs has declined significantly thanks to folic acid, there are still some potentially preventable NTDs occurring, so we can’t rest. We are still focused on educating women about the importance of folic acid. That’s where the telephone survey comes in. here’s what we learned…

  • Black women were least likely to have heard of folic acid (44%, compared with 59% of white women and 48% of women of other races)
  • Age effects – Women over 30 were more likely to know about the protective benefits of folic acid and those 30-39 were most likely to be taking supplements (71%). The lowest rate of supplementation (14%) was in women 40 and older.
  • Education was a factor – Women with education beyond high school were more likely to know about folic acid and much more likely to be taking a supplement (69%) compared with those with a high school education (24%). Only 7% of those with less that a high school education used folic acid supplements.
  • For those who did know about folic acid, the majority (55%) had learned it from their healthcare provider, compared to just 26% in the earlier years of the program.
  • Additional data from a different 2017 study by the March of Dimes showed that most women knew that folic acid was important for the health of the baby, but did not know when to take it, how much to take, or why it was important.

But even more, lots more, of those polled in the SC survey knew about the Zika virus and its association with birth defects, most notably, microcephaly or small head size. Of course Zika is a newer risk and has gotten a great deal of press in the past year. As expected most women (80%) had heard of Zika, and 70% knew of its association with birth defects. Of those who knew about the virus, most (60%) learned about it from television.

So how does this help?

We’re getting the message out to healthcare providers to share this with their patients. We target these providers with information and resources to share and will continue to do so. This data also helps us get an idea of which populations that our message has been missing, so we can adjust accordingly, as well as specifically what kinds of information (dosage, timing, etc.) they are lacking.

As we celebrate Birth Defects Awareness Month every January, we look to refine our role – how can we best get this life-saving message out to those who need it most. We resolve, as 2018 begins, to continue with what’s working and to adapt and fill the gaps ensuring that fewer families are touched by these preventable birth defects.

For more information about folic acid or the SC Birth Defects Prevention Program, contact Jane Dean, RN at jane@ggc.org or 1-800-676-6332.

My DNA went to the lab and all I got was this lousy VOUS!

GGC-Images-69

Genetic technology has made rapid advances in recent years. We are nearing the era of the $1,000 genome, making genetic and genomic technology more affordable and accessible than ever before. We now have the capability to sequence the entire genome, all 3 billion (yes, billion with a b) base pairs, and identify more and more genetic changes or variants.

These advancements are tremendous and have provided answers for families who have been searching for years, and even generations, to identify the cause of the disorder in their family. With a diagnosis we have been able to point patients toward effective therapies, offer accurate risk assessments, and provide hope through clinical trials.

But as the technology is better able to find these genetic changes, we are coming across many novel, unreported changes in genes and are unsure what to do with them.

We all have genetic variation – just look around. This variation is responsible for much of the diversity among our species and helps create healthier offspring. Genetic variation is a good thing.

When the lab finds a genetic difference, something that is unexpected or different from the “normal” gene sequence, the question becomes…

What does it actually mean?

For example the typical sequence of AACTTTGA may be expected, but the patient’s results show AACTTTGC. Is this something benign like the difference between blue eyes and green eyes? Or does that single letter change cause a fundamental defect in the resulting protein leading to disease? After all, many genetic disorders, including sickle cell disease and achondroplasia, are due to a single letter change in the disease causing gene.

If it’s a change we have seen often in patients with similar findings or has been proven in the scientific literature to be disease causing, we have our answer. But what if the change we see in a patient sample is new to us and has not been reported before? The challenge for diagnosticians is what to do with those variations – how do we report it and what do we call it?

Thus we have coined the term ‘variant of uncertain significance,’ also known as a VOUS or VUS. VOUS has become a four-letter word in genetics, and unfortunately, they are common. As we look at the DNA sequence through single gene testing, panels of genes, or even whole exomes or genomes, we are occasionally going to find changes that we don’t know what to do with. It’s frustrating for laboratory geneticists and clinicians, and complicated and confusing for families.

Genetic counselors discuss the possibility of VOUS results with patients before testing is ordered, making the family aware in advance of all potential results and what they could mean. But that preparation still doesn’t make it much easier to disclose VOUS results to patients. “What do you mean you found something, but can’t explain it?” “A change is bad, right?”

So, how does the lab investigate these new changes?

One way is to look at the parents. If the change is new or ‘de novo’ in the patient, meaning that it is not present in either parent, we become more suspicious that it is significant.

Diagnosticians also research the scientific literature and various databases to see if the change has ever been reported before, and if so, did that patient have findings similar to our patient?

Other ways to evaluate the significance of a change include more study and analysis of the specific change including…

  • What is the function of the gene that contains the variant?
  • If that gene were disrupted, would we expect the features that we see in this patient?
  • Is this variant in a part of the gene that is likely to disrupt its function?
  • Does the variant alter the resulting protein structure or halt it altogether?

There are numerous computer algorithms and methodologies that help answer these and other questions, and can predict whether a specific change is likely to be disease causing.

GGC’s Dr. Charles Schwartz has recently published a paper on a new technique that is helping to clear up some of these answers in a gene called KMT2D which causes Kabuki syndrome. Dr. Schwartz and his colleagues in Ontario were able to analyze this gene’s expression and through a new scoring system, could identify which VOUSs in that gene were actually causing the disorder. Research like Dr. Schwartz’s is happening around the globe and new methods such as this are providing clearer evidence of what many VOUSs actually mean.

We must, however, use caution in evaluating and interpreting all of the available evidence. It would be reckless to identify a benign change as disease-causing without firm and complete evidence – providing false answers and the potential for ineffective, or even harmful, procedures or treatments. It would be just as dangerous to call a harmful change as benign – offering false reassurance and potentially altering medical management incorrectly.

So for the time being, VOUSs aren’t going away. While laboratory technologies so far have outpaced our ability to understand these changes, a recent explosion in bioinformatics tools and research such as that Dr. Schwartz’s team is conducting, is bringing that understanding closer each day.

A VOUS today is not likely to stay a VOUS forever.

Breathing Easier

When you think genetics, what’s the first condition that comes to mind? It may be a chromosomal disorder like Down syndrome or a single gene condition such as sickle cell disease. But as the fields of genetics and genomics grow, we are learning more and more about more common disorders, many of which are adult-onset conditions, and how genetics plays a role. One of those conditions is pulmonary fibrosis.

Julie Jones, PhD, of GGC’s DNA Diagnostic Laboratory recently had the opportunity to attend the Pulmonary Fibrosis Foundation (PFF) Summit in Nashville with nearly 900 patients, caregivers, clinicians and researchers.  Below is her experience interacting with this population of patients and families who have more recently come to the attention of geneticists…

What is Pulmonary Fibrosis?

Pulmonary fibrosis (PF) – not to be confused with cystic fibrosis, a very different hereditary lung disease that presents in infancy – is a chronic and progressive lung disease that affects 200,000 Americans and causes more than 40,000 deaths each year. Fifty-thousand new cases are diagnosed annually. There is no known cure, and from the time of diagnosis the average life expectancy is 3 to 5 years.  Symptoms of PF may include dry cough, shortness of breath, discomfort in the chest, fatigue and weakness, and unexplained weight loss.

Pulmonary fibrosis is part of a family of related disorders called interstitial lung diseases.  In PF, scar tissue builds up in the walls of the air sacs of the lungs, and eventually the scar tissue makes it difficult for oxygen to get to the blood resulting in shortness of breath.  As the disease progresses, patients may require supplemental oxygen to breathe.  Ultimately, the continual irreversible scarring results in respiratory failure and death.

What causes PF?

Pulmonary fibrosis may result from environmental or occupational exposures such as bacteria, molds, asbestos, silica, and coal dust.  It can also be caused by certain medications and radiation treatments.  Many medical conditions including systemic lupus erythematosus, sarcoidosis, scleroderma, rheumatoid arthritis, and pneumonia can lead to PF. 

So how does genetics play a role?

Approximately 10-15% of individuals with PF have a relative who is also affected by the disease.  A number of genes have been associated with pulmonary fibrosis, and a pathogenic alteration within one of these genes can lead to the familial form of PF.  Genetic factors have also been shown to play a role in sporadic cases of pulmonary fibrosis.  If a specific cause of PF is not identified, the disease is labeled as idiopathic pulmonary fibrosis.

What happened at the PFF Summit?

At the PFF Summit, individuals from 46 states and 12 countries attended sessions on topics ranging from the role of genetics in PF to the critical need for earlier diagnosis of patients with this devastating lung disease.  I had the chance to speak with many of the patients, and they all shared a similar experience of having symptoms for many months and even years before they were finally diagnosed with the disease.

Early diagnosis is crucial so that patients have access to medications that have been shown to slow progression in individuals with mild to moderate disease.  Accurate diagnosis relies on high resolution CT scans and, in some cases, surgical lung biopsy (SLB); however, the risk of mortality associated with SLB must be weighed carefully.  Alternative, less invasive diagnostic procedures are needed so that a SLB may be avoided.

For approximately 20% of patients with PF, genetic testing may aid in the diagnosis and possibly eliminate the need for SLB.

What about treatment?

One of the other topics highlighted at this year’s PFF summit was personalized medicine.  There is a growing body of evidence that genetic variants influence the risk of developing PF as well as disease progression and response to therapies.  In future clinical trials of treatments for PF, it will be essential to account for genetic variation in order to determine the relationship between genotype and therapeutic response.  This will be crucial in improving and personalizing treatments for pulmonary fibrosis.

Should I have genetic testing for PF?

I attended the PFF summit in order to inform and educate clinicians and patients about genetic tests related to lung disorders.  GGC’s Comprehensive Pulmonary Panel tests for variants within 93 genes associated with inherited lung diseases.  A subset of these genes are linked to pulmonary fibrosis.  As new genes are identified as being associated with pulmonary fibrosis, they will be added to the panel so that patients will have access to comprehensive genetic testing.  As with any genetic testing, it is important to discuss the potential risks and benefits of having this panel run with a qualified genetic counselor and your clinician.

For more information regarding pulmonary fibrosis, please visit http://www.pulmonaryfibrosis.org.        

JulieJones
Julie Jones, PhD, of GGC’s DNA Diagnostic Laboratory

 

Answers to Six Important Questions about Genetic Counseling

Answers to Six Important Questions about Genetic Counseling

The Greenwood Genetic Center is home to 14 genetic counselors based across South Carolina to providing services for patients and families for a variety of reasons. But what exactly do they do and how can they be helpful to you? On this first annual Genetic Counselor Awareness Day, read the post below from the National Society of Genetic Counselors for answers to those and other questions about these healthcare providers…

Hannah and Ash, Genetic Counselor and Patient
Hannah Warren, MS,CGC a clinical genetic counselor in GGC’s Greenwood office, enjoys a visit with patient, Ash Huffman.

Social and regular media are filled with information about all the genetic tests available and the latest genes discovered by researchers. You can’t help but wonder whether you should be tested and what the results might mean. So where do you turn? Genetic counselors are the professionals who can help guide you.

Wait, genetic what?

“Many people are confused about what a genetic counselor does, and many who might benefit from seeing a genetic counselor may not know we exist,” said Mary Freivogel, president of the National Society of Genetic Counselors (NSGC). “Simply put, genetic counselors have advanced training in medical genetics and counseling and can be a vital part of your healthcare team by helping you understand how inherited diseases and conditions might affect you or your family. We can provide guidance on whether genetic tests may or may not be right for you and help you make informed choices about your healthcare.”

Genetic counselors work in many areas of medicine, including cancer, prenatal, cardiology, neurology, infertility, pediatric and adult. Many work directly with patients in various healthcare settings, while others do research or work in education, public health or in industry settings.

Nov. 9 is Genetic Counselor Awareness Day, the perfect time to answer some questions about this growing and important profession.

Q: My doctor knows my family history. Can’t he or she provide the same kind of guidance I would get from a genetic counselor? 

A: Genetic counselors are a part of the healthcare team and work collaboratively with you AND your doctor. Depending on the specialty and training of your doctor, he or she may not have the time and expertise to help you fully understand how genetic diseases and conditions might affect you or your family. Genetic counselors are experts at interpreting and explaining complex genetic information to both you and your doctor while also providing emotional support when necessary. If your genetic counselor and doctor are not in direct contact, be sure to provide any information you learn from a genetic counselor to your doctor so it can be included in your personalized medical management plan.

Q: Can a genetic counselor tell me whether I’ll get a certain disease?

A: Nobody can you tell you if you are going to get a disease or guarantee that you will not get it. Many things can influence your risk for a disease, and your genes are only one of them. A genetic counselor can help you understand your chances of developing a disease or condition. Regardless of your risk level, a genetic counselor can work with you and your doctor to develop a plan, including screening and prevention options.

Q: Is the right time to meet with a genetic counselor after I’ve had my genetic tests? 

A: Many people benefit from meeting with a genetic counselor before undergoing a genetic test. A genetic counselor can help you explore whether getting tested is right for you and if so, which test is appropriate and what laboratory should do the test. A genetic counselor can explain what the test can and cannot tell you and can prepare you for the results, which may impact not only you, but members of your family. In some cases, patients choose to decline genetic testing after meeting with a genetic counselor, but still benefit from receiving personalized information about their level of risk, based on their family history and other factors.

Q: Will a genetic counselor tell me what to do based on my test results?

A: A genetic counselor can provide personalized information, guidance and emotional support through the decision-making process but will not tell you what decision to make. Rather, a genetic counselor will help you understand complex genetic information and provide useful insight and perspectives and support you as you make an informed decision about what makes sense for you and your family.

Q: If I need counseling, shouldn’t I see a psychologist or psychotherapist?

A: Genetic counselors counsel, educate and guide patients about their personalized risk for disease, their options for genetic testing and their thoughts and feelings about what they want to know. Genetic information not only affects the individual, but also family members. Some patients can benefit from a genetic counselor’s guidance on how to navigate complex family dynamics when communicating information to relatives.  Genetic counselors are not licensed therapists or psychologists but can certainly refer patients for this type of support when necessary.

Q: I think I might benefit from working with a genetic counselor, but what if I can’t afford it?

A: Health insurance often pays for genetic counseling. In many cases, insurance also will pay for a genetic test if it is recommended by a genetic counselor or a doctor. However, you should check with your insurance company to find out if it will pay for the specific test you are considering. A genetic counselor can guide you on how to do this. Your insurance plan may cover certain tests, but not others. An advantage to having genetic counseling is that after you receive the information and insight, you may decide you don’t want or need a genetic test, which can save you money.

Genetic counselors are healthcare providers with unique, specialized skills and knowledge. In the world of genetics, where things are constantly changing and evolving, genetic counselors will guide and support you as you seek more information about how inherited diseases might affect you and your family. To find a genetic counselor near you, visit findageneticcounselor.com.

Kellie Walden, Genetic Counselor
Kellie Walden, MS, CGC is one of GGC’s laboratory genetic counselors providing assistance to healthcare providers who are ordering testing.

Want to learn more about what a genetic counselor does? This video from NSGC is a great place to start!

New Book on Rett Syndrome

New Book on Rett Syndrome

Rett syndrome Book

Rett Syndrome Awareness Month officially ends today, but we encourage everyone to continue to learn more about this genetic disorder and support this amazing community which includes families such as the Gunns  and the Croissants . We continue our research and clinical care and are excited to also share information regarding a new book on the subject.

Dr. Walter Kaufmann , Director of the Center for Translational Research and Ravenel Boykin Curry Chair in Genetic Therapeutics at the Greenwood Genetic Center, has edited a book on Rett syndrome. The book, Rett Syndrome, is part of the Clinics in Developmental Medicine Series from MacKeith press.

This book is aimed at clinicians and researchers as an overview of the clinical and genetic features of Rett syndrome as well as current status of therapies. Dr. Kaufmann discusses the book below.

Rett Syndrome can be purchased from MacKeith press at  www.mackeith.co.uk/shop/rett-syndrome/.

Aging Out

Aging Out

When your child with disabilities becomes an adult with disabilities

Our daughter, Kelsey Croissant is 25 years old. Like many women her age, she loves country star Luke Bryan. And like many women her age, she’s not into her parents’ favorite music (which happens to be classic rock). She enjoys traveling to bluegrass festivals, visiting family, swimming, taking long walks in the park, and touring art museums.

But unlike many women her age, Kelsey isn’t celebrating earning her degree, getting settled into her first job, or navigating the dating world. Kelsey is nonverbal. She is unable to walk. She has seizures. She has lost all purposeful hand movements and requires constant care.

Kelsey has Rett Syndrome.

CroissantKelsey9

What is Rett syndrome?

Rett syndrome affects approximately 1/10,000 females. Girls with Rett syndrome experience normal development until 6-18 months followed by a period of developmental regression. The features of Rett syndrome include intellectual disability, seizures, absent or reduced speech, and stereotypical hand movements, as well as breathing and digestive issues.

​We first suspected something when Kelsey was about a year old.  She was not crawling well and had not begun to pull to stand on her own.  But she did have a 20 word vocabulary and was self-feeding.

At 14 months old, we saw a developmental physical therapist who said that cognitively and socially she would be fine, but she had low muscle tone. We began physical therapy three times a week. That was difficult for a young couple living far away from family, but, as parents you do what is necessary, and we made it happen.

As Kelsey’s challenges became more worrisome we embarked on a diagnostic journey, bouncing from neurologist to neurologist until finally around age 2, we received the diagnosis of Rett syndrome. Shortly afterward, her developmental regression began. Our baby girl was losing all purposeful hand movements and the few words that had made us beam with pride at one year were gone.

Kelsey’s diagnosis has plunged us into a world we never knew existed. Living with Rett syndrome is a roller coaster –there are ups and downs.  As a family we have really learned to appreciate the blessings of each day. We are grateful for the support of the experts at UAB and GGC. That’s where we can ask all of our “crazy” questions that you feel like no one else can possible understand! And Kelsey is doing her part to advance research by participating in the Rett Syndrome Natural History Study.

CroissantKelsey5

Where do we turn now?

We can’t say that these past 25 years have been easy. But we remember that our girl is Kelsey first and foremost, and we do not define her based on her diagnosis. She has her own personality and likes and dislikes.  We never limit her due to her disability.  She has been water skiing, flying in a two seater airplane, bowling, boating, and fishing.

But now, as a young adult, Kelsey has aged out of many of the programs that have supported her. There are a great deal of resources for families with children with special needs, but once they reach adulthood, the challenges are different and the opportunities for inclusion are much more limited.

That’s why we have become actively involved with a grassroots movement in Columbia to develop a mixed-use community for adults with disabilities to live independently, but with support. We are early in the planning process and welcome the involvement of anyone with an interest and a heart for ensuring a future for Kelsey and all men and women with disabilities.

October is Rett Syndrome Awareness Month. To learn more about Rett syndrome, visit www.rettsyndrome.org .

To become involved with the Croissants in their community plans, contact sharoncroissant10@gmail.com

Robert and Sharon Croissant

Columbia, SC

Communicating Without Words

Mommy.  Daddy.  I love you.

One of the joys of parenthood is hearing your child say these words and phrases for the first time.  Toddlers and teenagers alike are notorious for having their own opinions and preferences.  Being able to share these thoughts and control some parts of their world is an important step in child development.

But what do parents do when their child isn’t able to talk?  When sign language isn’t an option?

Rett syndrome awareness month

Rett syndrome, and other similar neurodevelopmental disorders, robs individuals of the ability to communicate.  When verbal communication is no longer an option, families develop incredible means to communicate.  Spend time with a family of a girl with Rett syndrome, and you will witness the incredible bond between parent and child.  Parents can tell you which look means “I’m hungry,” which sigh says “I’m bored,” which laugh says “This is so much fun,” and which glance is a request for a favorite movie.  The love and trust that a child feels for a parent or sibling shines through without speaking.  Excitement over a new toy or skill is palpable.  Just as parents of infants can interpret a cry, parents of older nonverbal children learn what different sounds and expressions mean.  As one mom shared, “The instinct just grows.”

Devices have been developed to improve communication for those who are nonverbal.

Rett_communication
Rettsyndrome.org

Called augmentative communication devices, these can be as simple as a cards with the words “yes” and “no” to as complex as a computer that can track eye movements.  These options have obviously been a positive step forward.  Amazingly, some parents and families have developed their systems that can be quite complex and attempt to give their family member the ability to communicate more complex ideas.  As wonderful as these systems and devices can be, there are parents who say that their daughters connect with them better than devices.  Additionally, communication on the go is faster and easier without carrying around pictures or computers.

As incredible as this unspoken communication may be, parents of children with Rett syndrome continue to fight for their daughters.  Augmentative communication devices, medication to ease seizures and breathing irregularities, speech therapy, and, most importantly, a CURE.  These families continue to fight.  Fight for the awareness that being nonverbal doesn’t mean that you can’t understand what is being said to or around you.  Fight for their daughter’s right to advance in school and prove her ability to learn.

October is Rett syndrome Awareness Month. 

Previous social media campaigns have been built around #notspeaking and #LOUD to highlight the difficulties of those who are nonverbal.  Advocates for Rett syndrome continue to use their voices for those who can’t.  Maybe you can too.  And we can all work together for the day that a girl with Rett syndrome can say “I love you” out loud. You can learn more by visiting www.rettsyndrome.org.

“There are some people who could hear you speak a thousand words and still not understand you.  And there are others who will understand without you even speaking a word.”—Yasmin Mogahed

Lauren Baggett, MS, CGC
Genetic Counselor

October is Rett Syndrome Awareness Month

October is Rett Syndrome Awareness Month.

Rett Awareness Month SCThanks to Gov. Henry McMaster, SC is officially joining with the Rett syndrome community in honoring those families who face these challenges every month of the year. Join with us in supporting families like the Gunns, whose story is below. Learn a little about Rett syndrome and be a part of advancing research toward a cure!

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.  

At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early intervention program. Our BabyNet caseworker recommended that she be evaluated by the Greenwood Genetic Center.

We met with Dr. Mike Lyons at GGC’s North Charleston office. He evaluated Makayla and suggested some genetic testing. A few weeks later, he broke the difficult news of Makalya’s diagnosis in a most gracious way.  He also immediately recommended we meet with Dr. Steve Skinner in the Greenwood office, who is an expert in Rett syndrome. Though we were overwhelmed at all we needed to know, Dr. Skinner, Fran Annese, and the whole staff were wonderful at that first meeting, giving us all the time we needed to ask questions.  Their compassion for families like ours really showed through that day and continues to this day.  They have remained accessible and informative, staying up to date on any changes or developments related to Rett syndrome and sharing those as appropriate. They have been so encouraging for our family as we navigate through what, for us, are uncharted and scary waters.  We have also enrolled in the Rett Syndrome Natural History Study through GGC.

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But, Rett Syndrome does not define Makayla.

Despite her diagnosis of Rett syndrome, Makayla is a happy little girl.  We are blessed that she can do the things she can do!  She can still walk, unlike so many girls with Rett syndrome, but she also skips and runs in short distances when she is excited.  She loves being outside, and her favorite thing to do is play in water, at the pool, the beach, and even in the bathtub.  Close behind that is riding her rocking horse, which she would stay on for hours if we let her.

She also loves to watch sports, particularly basketball and football.  With four older brothers, she has had many opportunities to watch games!  And, she loves to dance, especially to Michael Jackson and Johnny Cash!

Makayla’s diagnosis has been an incredible challenge for our family, but learning about and dealing with Makayla’s condition has done a couple of amazing things.  First, it has drawn us closer together as a family.  Second, it has brought out a love in each of us that we just did not know was there.  I do not think there is any sweeter sound than when Makayla gets tickled and laughs and laughs.  Our boys at times even vie for a turn at holding her, and often we have to kick them out of her room at bedtime!  She has and continues to bless our family in so many ways.

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To learn more about Rett syndrome visit rettsyndrome.org

Hollis and Julie Gunn
Mt. Pleasant, SC

Not just the ‘PKU test’ anymore!

Not just the ‘PKU test’ anymore!NBS Awareness Month

Many healthcare providers still refer to newborn screening as “the PKU test”, since PKU (phenylketonuria) was the first and only condition screened for beginning in 1965. Thanks to the development of the blood spot card in 1963 by Dr. Robert Guthrie , all babies have a few drops of blood taken from their heel shortly after birth. We started out by looking for only PKU, and in the past 50 years, countless individuals with PKU have been identified and started on treatment – treatment that has prevented intellectual disability, seizures, and growth problems, and that’s amazing!

But newborn screening didn’t stop there!

Today’s test is so much more thanks to a combination of new technologies and new treatments. Technology has rapidly advanced in the 50-plus years of the newborn screening era, allowing us to detect many more disorders. A lot gets done with those few drops of blood – metabolic testing, hemoglobin testing, and more. Testing for some of the newest additions to the newborn screen, lysosomal storage disorders, only requires a tiny fraction of the blood collected from each baby, but requires new, high-tech instruments in the laboratory. Newborn screening now goes even beyond the blood test with non-invasive equipment used to check hearing and pulse oxygen (to identify heart disease).

Thankfully, along with advances in diagnosing these conditions, progress is also being made in the development of effective treatments.

The original treatment for PKU was (and still is) dietary management. With the right advice from geneticists and metabolic dietitians and a lot of careful attention to food intake from the family, the adverse effects of PKU can be avoided. This is not extraordinarily high-tech, but is very effective .

NBS Awareness Month

Many other conditions detected by newborn screening can be managed with diet and supplements or with a single medication (like thyroid hormone replacement for patients with congenital hypothyroidism). Patients with hearing loss identified at birth may benefit from the early use of hearing aids or cochlear implants, leading to not only better hearing, but also improved development and speech. Congenital heart defects that may have gone undetected for months, or even years, can often be surgically corrected right away. Other disorders, like cystic fibrosis and sickle cell disease don’t have a single treatment yet, but do have improved outcomes with early detection and comprehensive medical care.

For some of the most recent additions to our newborn screening panel, patients are unable to make a needed enzyme, so novel treatments like enzyme replacement therapy (replacing the missing enzyme with a medication) or bone marrow transplant (introducing healthy cells that can make the missing enzyme) are improving symptoms and quality of life.  Advancing technology has made these medications and procedures available and they can be life-saving for patients with these rare diseases.

So, how did we get to the 50+ conditions that South Carolina currently screens?

Each state determines which conditions are on their newborn screen, but all states now try to follow the national Recommended Uniform Screening Panel (RUSP)  of 34 core conditions and 26 secondary conditions. Anyone can nominate a condition for the RUSP, and often this is a combination of parents/advocates and researchers. Conditions are added to the RUSP after a committee reviews the scientific knowledge about the condition and the screening test. The reviewers are looking for an overall benefit of screening and whether it can be practically implemented, including things like:

  1. The condition is a serious health issue
  2. Enough is known about the rare disorder to be certain about the diagnosis
  3. An effective treatment exists
  4. Screening can provide quick results
  5. States can provide the screening with reasonable expenses
  6. Most or all babies with the condition will be detected, without too many false-positive results

Not all conditions will be approved, but as we continue to better understand how these conditions can be diagnosed and treated, the list is sure to keep growing. For example, Pompe disease was initially declined because of a few pieces of lacking evidence, but about 5 years later it was added to the RUSP. Soon newborns in South Carolina will be screened for this condition and given the chance to receive early treatment with a synthetic enzyme that will improve survival and quality of life.

Where are we going from here?

As new testing methodologies and treatment options become available, more and more conditions will be recommended and approved for newborn screening. It is truly an exciting time to be in genetics, as we are in the midst of amazing research and discoveries that are not only treating patients after symptoms develop, but with early detection, can prevent children and their families from the devastating effects of many of these conditions.

Dr. Guthrie likely couldn’t dream of the number of lives his innovation would save! The ‘PKU test’ has come a long way, and we are excited to see how families will continue to benefit as progress continues.

Jennifer Stallworth, MS, CGC