Ontario Medical Lab Discovers FHS Gene
by Dr. Meghan Connolly
Dr. Kym Boycott’s lab in Ontario, Canada recently discovered “SRCAP” as the gene which causes Floating Harbor Syndrome (FHS), a condition characterized by short stature, delayed bone age, speech delay and distinct facial features. While we are still learning a lot about SRCAP and its role in the body, Dr. Boycott’s team found that mutations which cause FHS are clustered in on a specific part (exon 34) of the SRCAP gene. This suggests that this is a very important part of the gene for its function. While everyone has two copies of the SRCAP gene- one inherited from their mother and one inherited from their father- individuals with FHS have a change or “mutation” on one of their copies of SRCAP, making it unable to work properly. Having a mutation in one copy of the SRCAP leads to the features seen in individuals with FHS. To date, all SRCAP mutations reported have been “de novo” or “of the new.” This terms refers to the fact that the mutations were not seen in the parents of the individual with FHS, and therefore, the gene mutation was not inherited from a parent. Instead, de novo mutations occur spontaneously, or by chance, at the time of conception of the individual with FHS. These SRCAP mutations are not caused by environmental insults (what parents ate, or did) but rather just happen by chance. Because of this, it is very unlikely that parents of a child with FHS will have another child with FHS. However, when individuals with FHS have children, because they already carry the SRCAP mutation, they have a 50% or 1 in 2 chance of having a child who also has with FHS. There are genetic testing options to test pregnancies to see if they carry a FHS mutation.
So what does this discovery mean? It means that now families with a suspected FHS diagnosis can have a genetic test to confirm the diagnosis of FHS. It also means that we can better define FHS and over time will be able to better describe that the life of a person with FHS may be like.
Editor’s Note: Dr. Connolly is a genetic counselor at the Manton Center for Orphan Disease Research at the Children’s Hospital Boston.
Ewan, 28 years old, UK
This year has been quite a challenge in many ways for Ewan. He is now 28 years old and a real character! He lives in a semi-sheltered accommodation (group home) in Oxford which is some miles away from where we live, but he is able to make the journey by bus to our house and to his part-time job easily. He does enjoy his own space but needs lots of help to venture into any social situation apart from those with family members. He loves film and computer games.
His main successes this year have been in his developing confidence and in his ability to look after many of his own daily living tasks effectively, albeit with some support. He has had some health issues and a paper was written about him. He has Adult Polycystic Kidney Disease (APKD) which was discovered after several kidney infections and raised blood pressure were noted. The outcome of the paper was the suggestion that cases of Floating Harbor should be routinely monitored for this disorder on diagnosis and then subsequently. Our other main worry is his teeth. They have given him the most problems this year. They are very small and in very poor condition needing frequent dental intervention, however Ewan himself manages all this issues well and as an adult is more cooperative with the help!
It is really helpful to have your magazine and I just wanted to say a big thank you as it is so important to see other people with the same condition and hear their stories.
Regards, Barbara Harker
Anna Maria, 10 years old, Portugal
Anna (left), and Anna (on right) with her sisters
My daughter received the diagnosis of FHS three years ago at age seven. She can read and knows her numbers. She has no notion of days and has mild mental delay. I need you guys!! She is behind in school. She is learning to use her glasses. She gets medical help here in Brazil. She is 1.10 meters tall (3 feet 7 inches).
Jacilene Maria, Anna’s mother
Debbie Wood, 31 years old, UK
Good morning from the land of castles. Debbie is 31 in April. She is about to open her own shop and employ a couple of people. You will see in the picture of her and "JAWS" 2 (above) she has been working as an EMT (emergency medical technician) for her brother’s ambulance firm. She is starting to talk about having Floating Harbor, but only with her family and close friends. She had so much prodding and poking from doctors she thought she was part of a freak show!
She holds a job down, she drives and her speech is getting a lot better. She still has a few medical problems like her curvature of the spine (back problems). She has won gold awards from all over the world for the beautiful cakes she makes.
She goes around the UK teaching sugar craft (cake decorating).
So what I am basically saying is “Tell all the parents of Floating Harbor children there is light at the end of the tunnel”. I, like many, have had sleepless nights thinking what will happen when she gets older. but this proves that all FH children will find their level.
The only regret I have is that I sent her to a special school as I thought she would not survive in main stream school because she was so little. If I could do it again I would put her in a main stream (regular) school. I hope this might help other parents.
All the best, Dennis Wood, Debbie’s father
Connor Robinson, 8 years old, UK
Connor is now eight years old although he still wears five to six-year old clothes
He is 1.1 metre tall (3 feet 7 inches) and weighs about 22.5 kg. (49 pounds). Although he doesn't yet talk he has picked up the key words he needs to be understood. Makaton sign language plays a part of everyday life at home and at his school where only children with special needs are taught.
He spends his free time listening to music and playing on game stations like any other child. He has a gluten-free diet which has kept at bay a lot of the problems he once had. He suffers with bouts of aggressive behaviour when he is frustrated or unable to have things his way. His general quality of life is good and he brings much laughter and happiness to the family.
Steve Robinson, Connor’s dad
Hello FHS Support Group!
I thought it might be good to share our experience with looking into the idea of having our FHS son Pete IV take Risperdal. He is 18 years old and is a Senior this school year.
Pete IV has had some really bad days at school. His emotions would get the best of him and he would have tantrums. I asked his teacher to try to keep a list of his tantrums so we could see if he was being disruptive too many times and so we would have a written account of tantrums to compare with if we used medications.
Pete and I also regularly visited a counselor at Seattle Children's Hospital . We discussed the fact that he was disrupting class, taking time away from class curriculum for both himself and his fellow students, and Pete was not trying to use any of the coping techniques the counselor had taught him.
We had an appointment with the clinic nurse. She explained that the medication is designed to block some of the testosterone from reaching the brain, hopefully with the effect of quieting the emotional surges. Then she explained that Pete IV would have to have blood drawn every 6 months to test for organ problems.
Pete IV had a bad day at school and I needed to talk with the vice principal before I brought him home. The vice principal told me that Pete IV had three tantrums in less than two weeks. I talked with Pete IV's teacher and I found out that he had not had tantrums for quite some time.
So we decided not to have Pete IV try the medication for a few reasons.
I had been getting incorrect information from about how many tantrums Pete IV was having from school employees that are not with Pete IV on a regular basis.
Pete IV had been experiencing less tantrums as the school year progressed, documented by Pete IV's daily teacher.
The medication can cause organ problems. No body fat is a symptom of FHS, and with no body fat in Pete IV's body, there is no buffer area in his body for this medication and everything would go straight to his organs. There would be no buffer to help displace any bad side effects.
Pete IV is 5' 3 1/4" tall. Each time we go to the doctor and he is measured, he tells me that I can not do the happy dance. But when we are out by the car after the appointment, he says I can do the happy dance. And I think he is 115 pounds.
Pete IV enjoys participating in Special Olympics Unified Soccer & Basketball. The Unified sports are programs implemented in the schools that have both special needs athletes and regular education partners/athletes, so each team has both athletes and partners. Unified Soccer was brought in three years ago and Unified Basketball was implemented this year.
Pete IV has participated in his high school cross country and track teams. He has participated for three years in cross country and two years in track. He has been team manager for his high school girls’ basketball and boys’ baseball teams. He really wants to try out for football, but his father who played football for his high school said “no”. There is a lot of tackling and hitting, even in tryouts. And I am a happy mom. I do not have to worry about my boy getting muffed up trying out for football.
We hope everyone is doing well!
The Williams Family
Ben Sinclair, UK
My brother Ben is 27 and has FHS. He is a very happy man. He has a girlfriend and a job and loves to travel around London on the trains. Our mother was a support worker for people who are effected by FHS, but sadly she passed away when ben was just 15 and we haven't had any support or information regarding the condition since then. Recently Ben has asked me to help him find out more information regarding his condition and I was lucky enough to stumble across the FHS webpage. If anyone would like to contact me regarding Ben then please feel free to do so.
Nicola Sinclair
Jodie Webb
Jodie passed away in March. She had what was described as a “catastrophic bleed in the head caused by an undetected aneurysm”. I understand that one-third of the population have aneurysms of one sort or another. Of these people one-third will die from them, one-third will survive with varying degrees of problems and the others won't even know they have an aneurysm. Jodi lived life to the full and as was testified by a lot of people was very well thought of.
We thought about sixty people would come to the funeral. We had a little chapel at the cemetery that only held seventy. They squeezed 200 in and there were still people outside! Many people came including her old headmaster from the special school, pupils, her old doctor, old friends from a one hundred miles away -- it was staggering. Her Dentist also wrote and read a tribute to her. The joy our Jo bought to all these people’s lives was unbelievable. The common views were that she had a beaming smile, a hug, a chat, and was then gone.
This has left a huge hole in our family’s lives which we are still trying to come to terms with.
If you look on Jo’s Facebook page you will be able to read some of the comments. (Jodie Webb)
The only thing we can say is that there were subtle changes to Jo's demeanour for three to four months before. We put this down to the fact she had a steady partner and were so very happy together.
Unfortunately the damage in Jo's head was so bad they couldn’t tell if there was any damage prior to the event. This has all been logged with the geneticists at Great Ormund Street who are in contact with the Canadian group looking into Floating Harbor.
Best Wishes to everybody Andy & Emmy Webb
Jodie's Mum & Dad
Editor’s Note: Brain aneurysms are not related to FHS per se, and this is the first reported known case in more than thirty years. Aneurysms occur in the general populace, and as to date it is not believed that they have anything to do with FHS.
Andy and Emmy- Thanks for sharing. Our hearts go out to you in your loss.
Initiative to establish a medical registry
for Floating Harbor Syndrome
for Floating Harbor Syndrome
July 9, 2013
Dr. Matthew Deardorff, a geneticist at Children’s Hospital of Philadelphia (CHOP) in the United States, has offered to investigate the potential for a medical registry for Floating Harbor Syndrome (FHS).
What is a medical registry? It is essentially a database that would serve as a repository for interested patient families and their clinical information. In the situation of rare disorders, like FHS, any one clinician may see only a few patients and have only a small amount of information regarding the clinical features and complications that might be seen by individuals. By creating a registry, it can allow a better understanding of the range and frequency of features and serve as a central hub to identify families who may be interested in helping to answer emerging questions regarding FHS.
How will the registry help my child? This central database/registry would help track FHS patients over time. Families and patients would voluntarily register and supply information that could be used to understand health issues and improve quality of care. The registry would also serve as a resource for further research. For instance, families might be asked to complete questionnaires and be surveyed about various topics related to the syndrome. If other groups are identified worldwide who are researching FHS, Dr. Deardorff’s team will work to coordinate with them and make a research network.
In the past, their hospital has been able to facilitate gatherings of families of children with genetic syndromes to allow parents to meet each other and share information.
The geneticist is Dr. Matthew Deardorff, whose biography is here: http://www.chop.edu/doctors/deardorff-matthew-a.html
Who will have access to my child’s medical information? Only relevant hospital personnel and other medical researchers
Who may join? Any person of any age worldwide with Floating Harbor Syndrome may register.
Is there a cost to families? No. The research team will identify means to fund the project.
How do I participate? At this point, send only your name and email address with a note of your interest to volunteer parent liaison Karen Mancinelli, an FHS mom, at kmancinelli@optonline.net. Do not send medical information. If you have questions, please ask.
Why is a third party collecting contact information? Dr. Deardorff is unable to collect names for the registry until he has approval for the research project from CHOP’s research project approval board. Because FHS is so rare, FHS parents Karen Mancinelli and David Paige are conducting a headcount to estimate how many people might be interested in joining the registry. This information will be included in the application.
With a quick response, it’s possible that the registry could be up and running by the end of 2013.
Left to right: Levi, 9; Mary, 12; and Jesse 19
From the Editor
Everyone who wrote an update, thank you so much for sharing your stories with us. In the beginning there were just a few of us and all the children were eight years old or younger. It is so nice to hear about experiences from parents of older children and adults, and it is encouraging to read how they are able to function in society.
I encourage everyone to sign up for the medical registry by contacting Karen. We have already done so ourselves, and it will only help for us to share information so that we have more collected over the years, thus enabling the medical community to better serve us. Knowledge is empowerment!
Jesse is nineteen and will turn twenty in just two months. He is the official janitor at our school and church. He goes to school with us each day and takes out the trash, sweeps, mops, makes copies, and just about any other simple task we give him. He occasionally gets upset at something, but there is a little office in the back where he can have some “alone time” and cool down. I have also noticed that he takes several naps or rests during the day where he doesn’t necessarily sleep, but lies down and rests for an hour or so. I think this is because of the lack of fat storage and metabolism issues. He does eat and sleep well.
I encourage any group members with a confirmed FHS diagnosis to send an email with an update and pictures of your children, along with written permission for me to share them with the group.
And as usual, please let us know if there is any new or unusual condition your child has or was recently diagnosed with. Also feel free to ask any questions. There is probably someone else who has experienced the same things you are experiencing and may have suggestions to help you.
Sincerely,
Deana Swanson, FHS Support Group, Jesse’s mom
