A Mother’s Road to Diagnosis

I’m Sandra, and my story began 20 years ago.

My first drive to the ER with my daughter was one of my most scariest moments. She was covered in hives and went into anaphylaxis. What was happening to my daughter? Did she eat something she was allergic to? Did she use a new shampoo, lotion, laundry detergent? So many thoughts raced through my head as I was racing to the ER, trying to keep my 11 year old conscious.

As we arrived to the ER, staff worked very quickly and saved my daughter. I was swamped with a million questions, and my big questions was, “why did this happen?”. We were discharged and told to see an allergist.

My daughter appeared to be fine and I hoped this episode was a fluke thing. Two weeks later she was in dance class and started to get hives again. I treated her with Benadryl and the hives eventually disappeared. The following week we saw an allergist, who gave us a prescription for an epi pen. He gave us instructions on how to use it. Little did I know this was a very important lesson, that was going to be the start of long, long road! My daughter got worse and worse. Eventually she was going into anaphylaxis a couple times a week.

“We were referred to doctor after doctor, specialist after specialist! No one knew what was wrong with my daughter.”

Moving forward, my daughters life was constant epi pens, trips to the ER and several hospital stays. She had to finally withdraw from her competitive dance team, and school was a struggle. She was out of school more than in school. We arranged for her to be schooled at home.  She went from a 100 pound competitive dancer, to 190 pound sick child. She was on 18 pills a day and on and off steroids. No one seemed to be able to get her under control as she did not follow the cookie cutter anaphylaxis. She would lose muscle control, couldn’t speak, sometimes was covered in hives and other times no hives. It became so hard for others to recognize, and I had to be with her at all times! Caring for her was starting to consume our whole family. I had to cut back my hours at work, and her 5 year old sibling had to grow up fast.

Eventually, years down the road, I started to see my bubbly, social, energetic child, start to with draw. I worked closely with the school nurse and Board of Education to put a med plan in place and get my daughter back with her peers and in school. We were beyond grateful to have their support and a full time nurse to be with her at all times. She not only attended high school, but was now a high school graduate!

At this time, we found “our miracle doctor”. He was able to tell us she had some kind of mast cell disease, and placed her on a trial of a med that was primarily used for asthma (xolair). She started to slowly improve!

Great things were happening.

The high school had  recommended online course for her for college. We visited the community college. Once we put a plan into place, we visited the disability office and was directed into many different offices! Basically no one could help with resources for my daughter to attend community college. So we registered her and I went to every one of her classes for 2 and half years. I sat outside every classroom to make sure my daughter was safe. In these 2 and half years my daughters health started to improve! The xolair and her other medication were starting to work. Slowly I was able to let her attend class alone. Then she was able to get her drivers license and drive herself! She found her niche and applied for the Occupational Therapy dept. She did not get in the first time, but she continued classes and applied again! She got into the program. Only 30 students were accepted out of 150! My daughter was one of the 30! Again she persevered!

“During this time MCAS became came a diagnosis. A real name.”

After 5 years my daughter received her O.T.A. Certification and found a job. I was one proud mom. Her health was much better. She was off Xolair and in remission!

Then just as fast as this disease robbed my daughter the first time, it came back. My daughter had 4 epi pens in a weeks time and we both knew something was wrong. She had to go out on FMLA and continued to get sicker and sicker, epi after epi. Then, we were informed that there was black mold epidemic found at her work. Her miracle doctor told us this is why she was in a flare! He decided to try her on a new med. It was an injection put us on a fast track yet we still hadn’t had it approved by the insurance. This injection cost $10,000 an injection. The nurse came out to show us how to administer at home on a Friday. I called our doctor to tell him she received the injection and he said to see how she does over the week end and to call him on Monday.

Devastation hit when mid-afternoon we received a call that our miracle doctor of 12 years had suddenly passed away. She had just started a new medication we knew nothing about, and my daughter got sicker and sicker with no specialist to go to. My daughter ended up in a wheelchair. She had muscle weakness and no one knew why! And she continued with weekly anaphylaxis.

We had started the process to get into Brigham and Women’s Hospital in Boston several months, before her doctor died, as we had heard word of a new specialist for MCAS. After a 2 year process we were accepted in as one of her patients. My daughter has since, 3 yrs later finally been able to walk using a walker only for long distance, and her anaphylaxis has slowed down.

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