One couple’s journey
OUR STORY, OUR JOURNEY
Chrisanthy and Kosta Kamaras
When I met Kosta I had never heard of Hereditary Spastic Paraplegia. I knew Kosta had it but we never really spoke about it. I can only imagine what it would be like for people with Spastic Paraplegia but to support your partner who struggles with it every day is very hard.
Our journey together didn’t really begin until we got engaged. I had been researching HSP but really needed a professional to explain it to me so we had an appointment with a neurologist who pointed out just how severe HSP could get. HSP cannot be prevented, slowed or reversed, but treatments can relieve some of the symptoms and help the person manage day-to-day activities. It wasn’t until coming out of that appointment in tears that I knew I didn’t want my child to have this problem. Kosta always felt so strongly about not passing on this hereditary condition and we both knew there was something we had to do about it.
In Kosta’s case and in most cases, a child with HSP will have inherited the faulty gene from just one of their parents, a 50% chance that they get the faulty gene or the corresponding normal gene from the other parent. This is known as autosomal dominant inheritance. We knew we needed to locate this gene if we wanted to guarantee healthy children without HSP.
In November of 2010 we got married and then in March 2011 Kosta and his father (who also has HSP) had an appointment with a genetic counsellor at the Wollongong Hospital. Kosta and his father later gave blood to be sent to the laboratory at Concord for testing to locate the hereditary gene.
We knew this would take a long time and that there were only 3 genes they had facilities to test. We also had an appointment with the genetic counsellor who gave us our options if we found the gene and if we didn’t.
As time dragged on (and boy can I tell you did it ever drag!) waiting for result of the tests was agonising. Not knowing what your future holds was tough for both of us. We would both have downtimes but would rely on one another to get the other back up especially when you get news that the first two genes tested for were not successful over a period of approximately 9 months. We received correspondence that the last gene they could test for was going to begin testing and about a month later in December of 2011 we got a phone call from the geneticist saying they located the gene – SPG4.
The results were the best Christmas present we could have ever asked for. Now to start looking at our options, well, for us, our only option really, IVF with Pre-implantation Genetic Diagnosis (PGD). We didn’t want to risk the chance of conceiving naturally and finding out that our child has the gene as the chance is 50% each time a child is conceived. We decided the chances were too high.
We decided to go with Dr. Greening who is an IVF doctor with Genea. From Dr. Greening we met with a nurse from Genea and then following that we met with a Scientist and Genetic Counsellor. They each explained the IVF and PDG process as well as their individual roles.
We have sent away our blood samples for DNA testing in the “Work Up” Stage. At this point a probe (some kind of test) is created to identify the gene in the embryo. We are currently waiting for these results so we can get started. Looking forward to putting all into action!
What an inspirational story! My husband also has HSP and so did his father and sister. Like you, I had never heard of HSP until I met my husband. We have 3 small children ranging from 1 to 6. We fear that our 3 year old son may have HSP and have seen many professionals, however they all say that he is not showing signs of HSP as yet. His legs can be quite stiff at times and as a toddler, toe walked which is a telling sign. He can struggle with simple things like riding a bike and tends to get a little awkward when he runs on sand etc. We are very optimistic that he will have a happy and healthy childhood. We encourage him to play lots of sports which also helps with his legs. He is an amazing swimmer – call him our little fish! My husband’s HSP is quite mild at this stage although he can get quite stiff during the winter months. He leads an active life which again helps with HSP. His sister is in her mid 40’s and is in a wheelchair. His dad developed HSP in his 50’s.
I wish both you and your husband all the very best. It is quite a journey you are on and one day you will be able to look back on it and say that it was all worth it!
We are doing the same thing. Our first cycle didn’t yield any viable embryos, our second yielded one normal embryo but I had a miscarriage. So now we are on our third round and we are using a donor. After the $60,000+ investment we are really hoping the third time is a charm! We should know in a few weeks, hopefully no miscarriage this time. 🙂 Good Luck in your IVF cycles!
Hi Simone, thankyou for your kind words.
Its taken quite some time to put words on paper and share our story and it hasnt even really begun yet. Sounds like you have your hands full! Hope all goes well with your little fish!
Thanks CD, nice to hear from you. Looking forward to actually starting our first IVF cycle. Nervous but excited at the same time. Hope your third time is a success! Best of luck!
hi my husband has hsp and is peg fed now and bedbound. what i would like to know – forgot to say he is 76 now – my daughter is 52 and has arthritis right down her spine but is fine and works. can she develop this condition? thank you
Editor’s Note: The short answer is ‘yes, she probably can’. Development of HSP symptoms has been known to occur in people over 70 years old who have carried an HSP gene their whole lives without apparent effect, while others who also carry a known HSP gene occasionally never develop symptoms. And there is also the question as to whether or not your daughter has inherited your husband’s HSP gene. If she has, then there is always a chance of developing symptoms at any age.