MonthAugust 2014

August: SMA Awareness Month

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August is SMA awareness month. It has been amazing to see the things people have done to bring awareness of the disease!

Late in July I had written a letter responding to an article about rare genetic diseases in The New Yorker magazine. The letter briefly described SMA and our experience with the disease; it was nice that it was published in August since it is SMA Awareness Month.

By the end of the month the ALS Ice Bucket Challenge had caught fire and raised $50,000,000 for research and treatment of this disease (also called Lou Gehrig’s Disease). It is the adult form of SMA and the two diseases are closely related. Many in the SMA community took the Ice Bucket challenge, but also attempted to gain awareness of SMA by initiating a Smash SMA pie-in-the-face Challenge. Our family participated and challenged others. Rick lay in a truck bed filled with ice water for a few minutes, using a scuba tank to breathe, to make his points that the diseases leave their victims frozen and forced to rely on life support. A video of this can be found on Youtube by searching “Rick Hall ice bucket challenge.”

On the 23rd of the month Rick and I took Heidi to Mimi Yu’s SMA fundraiser in Raleigh. Mimi’s son has Type 2 SMA. It was a nice, successful event with SMA families and local newscasters present!

All in all, it’s been a successful month for SMA awareness, and at a time when treatments are finally in the foreseeable future!

Spring and Summer 2014

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Felt like we were just starting to get used to things when we were launched into the busiest summer ever! We attended the National SMA Conference in D.C. in June. There we met hundreds of other SMA families and gained valuable new information at the workshops offered there. Heidi’s clinical trial physician and pulmonologist were both there.

We met Senator Kay Hagan, a staff liaison of Senator Richard Burr, and our Congressman David Price in efforts to lobby for amends to FDA process and expansion of compassionate use of clinical trial drugs for quickly fatal diseases when the drugs are showing clear, clinically meaningful results. The SMA community grows impatient as children die when treatments are so close within reach.

After D.C. we drove up to the Shriner’s Hospital in Philadelphia. Rick wanted to see if they had advice regarding supports and motorized wheelchairs. The traffic between D.C. and Philly was awful! Hope never to have to go from D.C. to anywhere north of there on I-95 again!

We celebrated Heidi’s first birthday at the end of June! Then in July we made the trip to Florida for Heidi’s fourth clinical trial treatment, vacationing first in Venice before driving up to Orlando. We had hoped to have a van for the trip, but our Medicaid modification funding still has not come through. We had to rent a van for nearly a thousand dollars. Getting our modified van will mean a great change in our family’s quality of life if we are ever really able to get it. Heidi likes to get out and about, but it is difficult when we have no good means to secure her in a vehicle that she can tolerate for long.

The house in Venice had a huge open floor plan with a pool just off the back that seemed to have been constructed especially for Heidi’s special needs! In Orlando, while Rick took Heidi to get her dose, I watched Cassie tackle the Nickelodeon Resort’s water park with tireless enthusiasm.

The next morning before we left, Heidi had an evaluation for the trial. We met up with a couple of other SMA families at there at the hospital, one of which we had met online and in person before. The other family was newly diagnosed and had moved down all the way from Michigan to participate in the trial.

My older children just moved into an apartment in Raleigh to start the new school year. Cassie starts middle school in two days. With the summer over and school starting this week, maybe things will slow down for a bit?

Early 2014

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We begin the year adapting to our new normal, going to doctor’s appointments, and learning about therapies, programs, and assistance that can benefit Heidi. In February we made another trip to Florida for a dose of the clinical trial drug; no question it is helping! We want the treatment to be available to all parents.

The 2013 Holidays

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Celebration of the 2013 holidays was quite abbreviated. During November and December four trips to Orlando, Florida, were necessary to get Heidi into the ISIS clinical trial and get her initial treatments and assessments. We got the CoughAssist and suctioning machine just in time before she caught a cold. On December 27th Heidi had her food tube surgically placed and we were in the hospital for eleven days.

On January 6th, 2014, we left the hospital with a food pump and a BiPAP ventilator that we hoped we knew how to use correctly. We had also been hurriedly trained in percussive chest therapy and infant CPR. We entered 2014 with hopes that we had the skills and tools we would need to get through the year.

Life after Diagnosis

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Heidi was tentatively diagnosed on October 3rd, 2013. The next three weeks until we received the blood test confirmation were a hell of dark uncertainty and trying to process all the horrible things we were told by her doctors that we could expect. We faced having to use a variety of medical equipment, including BiPAP, CoughAssist, a suctioning machine, and pulse oximeter. We were told she would need to have a food tube surgically placed quite soon and within a year or two would require oxygen to stay alive. October was the most devastating month.

My health was affected; on Halloween our psychologist sent us to the emergency room for physical symptoms I was having. They were going to hold me for an ultrasound, but we made an appointment with one of my doctors to have it done, then made our escape to try our best to enjoy what we had been told could be Heidi’s only Halloween!

That night Rick assembled a wagon that had been sent by Families of SMA. We quickly understood that we had a whole new family of people who had experienced day-to-day life as we were about to learn to.