Karen’s Story

Our Life with SMA Our Family Life changed forever the day Rose (9 months old ) was diagnosed with SMA. Every dream and hope we had for our two girls were crushed with the words of her Consultant Neurologist, Dr. Niamh McSweeney, “I am sorry, but unfortunately Roses genetic blood test has confirmed she has SMA”. That was an extremely difficult time in our lives, I remember on the day of her diagnosis, I could not bear to look at my beautiful girl. My perfect, beautiful, happy little girl. My heart broke into a million pieces wondering what had this world in store for her? I had to grieve for the future that she had lost, a grief I will always carry with me.
After the initial blur of those words, many questions circled around my head, including:
Where do we go from here? What do we do now? What does the future hold for my beautiful Rose? Dr. Google gave very grim answers to these questions. All the data was outdated because, unknown to us, a new wonder drug was just after being approved. SPINRAZA literally saved Roses life, before Spinraza was developed, SMA Type One children had a life expectancy of two years. Rose was very lucky to qualify for the Expanded Access trial for this treatment under the care of Dr. Declan O’Rourke, Temple Street Children’s Hospital. At 11 months old Rose began her treatment with four loading doses of Spinraza in 8 weeks followed by a maintenance dose every four months for the rest of her life. This is administered through Lumbar Puncture. Spinraza will not reverse all the damage done to her body but it will halt the progression of the disease and hopefully she will continue to gain some strength from the treatment. Roses secondary diagnosis to SMA is Scoliosis of the spine. She will undergo many future surgeries to correct this. The future for Rose is very unclear as there is no data on the long term benefits of Spinraza. We are extremely thankful for Spinraza however the difficulties we face in the future are many. There is hope, hope that was not there a number of years ago. We will never give up hope that some day Rose will walk aided or unaided.
The day to day care of Rose is very different from my experience with my first daughter, Kate. Rose is now four years old and she has many additional around the clock needs. These needs include:
• Help in sitting up from a lying position

• Transfer to her many chairs ( Car Seat, Table seat, Scoot (mini Wheelchair) etc.

• Getting dressed every day, putting on her DMO suit. ( This suit is to help slow the progression of her scoliosis curve while she awaits corrective surgery) This suit is particularly uncomfortable in the warm summer weather. We have a battle every morning to put it on.

• Changing her nappy. ( She cannot be potty trained as we do not have a suitable downstairs toilet to train her at the moment.)

• Lifted everywhere and this is getting physically harder as she gets older and heavier.

• Must be turned several times throughout the night to alleviate discomfort on her spine as her mobility to maneuver herself is severely restricted.

We have a full calendar of appointments for Rose. These all take place after her preschool day when all she wants to do is go home and play with her own toys. She attends, personally funded, Physiotherapy twice a week, Craniosacral, Hydrotherapy and various services in Enable Ireland. Rose also has regular appointments with her Neurologists, Orthopaedic & Respiratory Consultants who are based in Cork & Dublin. We live in Kerry, so these appointments entail a lot of travel for Rose, which are very uncomfortable and tiring for her, given her scoliosis curve.

My Winter Worry

This is a very worrying time of the year for us. Winter time with SMA is not easy with cough, cold and flu season. As SMA affects her respiratory muscles, we must be extremely careful of winter bugs. These simple infections on her system can be detrimental if not treated and managed quickly. Rose has a weak cough and is unable to clear her airways effectively. For this reason, homecare may not be enough and hospitalisation is needed on occasion to help clear a simple infection. As you can appreciate, life for Rose is very different to the life of most kids her age and the majority of the time she does it with a smile on her face. We as a family ensure Rose is at the centre of everything we do at all times . However her restricted mobility is highlighted when we are in the company of children who are freely running, jumping, crawling, skipping and playing about. The look of confusion on her little innocent face speaks volumes. Her mind is ready to stand, crawl, walk, run, & jump BUT her body fails her!! Most things children her age take for granted are major obstacles for Rose on a daily basis, to name a few:

• Go get the toys she wants to play with

• Pick things up when they fall

• If she falls over from a sitting position, she will fall helplessly unable to help herself

This is where her Big Sister Kate (6yrs old) has had to adapt to life with SMA in our family. She is encouraged to be more mindful and helpful to her younger sisters needs. Kate is most definitely Roses main cheerleader in encouraging her to be the best she can. I take great pride in the watching their relationship blossom. One of Roses strength of character is her feisty attitude in getting her own way at Kates expense! Typical sister interaction, I love it!!! The emotional impact of this debilitating disease on Rose is becoming more and more apparent. As she gets bigger, so too do her questions about her condition. “Did your legs work when you were my age”? “Mommy, I will walk when I’m older, won’t I?” “Mommy, when will I hold your hand walking into school”? Recently, on her 4th birthday, she got very upset saying “l don’t want to be 4, 1 want to stay a baby forever cos I can’t walk”.
Her cognitive ability is far greater than her years and we try to answer her many inquisitive questions in an age appropriate manner.
The emotional, physical & financial impact on us as a family is taking a huge toll. We are a single income family as I am Roses primary carer. I am caring for both our girls, mainly on my own due to the nature of my husbands job as a truck driver that involves very unsociable hours. This brings many challenges for me on a daily basis in juggling the normal day to day running of a home along with numerous appointments for Rose.