Goodin Family

My husband and I thought 2016 would be the hardest year in our life.  Grace was diagnosed with mild autism.  Grant was diagnosed with a growth hormone deficiency (which required nightly injections) and severe obstructive sleep apnea, requiring him to be on a CPAP machine at night. We learned to manage these things, thinking life would get better from here.

Grace started seeing Grant’s endocrinologist, and after following her for a while, we were leaning towards testing Grace for a growth hormone deficiency (since Grant has it). Before going through such invasive testing, the endocrinologist decided to get a genetic panel on Grace.  The news would change our life forever.
Grant Us Grace was started in 2019 after the unthinkable happened to our family.  Grant and Grace were diagnosed with an ultra rare genetic disease called Multiple Sulfatase Deficiency or MSD.   MSD is a terminal disease with no treatment or cure, with life expectancy only to age ten.  One gene mutation (SUMF1) gives 17 enzyme deficiencies, inhibiting the body’s ability to clean out cellular waste. This eventually causes a progressive loss of mental abilities and movement, including hearing and vision loss and the ability to walk, talk, and swallow.  MSD also causes symptoms much like having Alzheimer’s, Muscular Dystrophy, and Cystic Fibrosis.  All children eventually regress with this disease.  This disease will ROB our children of all their precious abilities, making them a shadow of who they are today before it takes them from us completely.

MSD is rarer than one in a million.  There are 100 cases reported worldwide and there are 20 known cases in the United States.  How could I have two of those children?  I will never forget getting the dreadful phone call that changed our life forever.  Life as we knew it ended that very day, and it would never be the same.  MSD stole our ability to plan for graduations, weddings, & grandchildren.  In fun times of laughter and in the tender moments of enjoying my children, it’s hard to mentally block out that they have an enemy lurking within them.  MSD has always won, but it has now picked on the wrong family.

Our local metabolic genesis told us there was nothing we could do for our children.  There were no treatments available.  They connected us with their “Journey Team” that would help us in these uncharted waters, and then help us with HOSPICE when it was time.  Even in my heartache, for some reason, I felt like our family would do something BIG!   I had an unexplainable calmness, and I had an intuition that I needed to trust GOD for what our future held.

Before going to Mexico in March 2019, we sat our children down to let them know about their rare disease, but they were too young to let them know the true devastation MSD would cause in their life.  My husband and I truly grieved for our children on the beautiful beaches of Mexico.  We would push hard for Grant and Grace to have the best lives possible, ever how long that would be.

We visited MSD doctors at CHOP for the first time, and we learned that Grant and Grace were the highest functioning ever found for their age with MSD.  Our children hadn’t experienced a regression, and they had more than multiple words. They could speak in long sentences and ask questions.  This form of MSD had never been seen.  Typically, a regression would have already happened before this age.

Numerous MSD children have initially been diagnosed with autism, but were later given the diagnosis of MSD.  GeneDX added the SUMF1 gene to the autism genetic screening panel after Grace was diagnosed with MSD.  This will give earlier detection to help save lives.

We have been blessed to connect to MSD families across the world. In February 2020, right before the pandemic, we attended the WORLD Symposium, an annual research conference dedicated to lysosomal diseases.  We attended with four other MSD families (three from the other side of the world) and two of our MSD doctors.  During the conference, a MSD doctor asked if we would consider bone marrow transplants (BMT) for our children.  We did not realize this was something we COULD consider.  We were introduced to one of the best doctors in the BMT industry (Dr. Paul Orchard). After seeing a photo of our children and hearing about them, he could not believe they had MSD.  He thought BMT could be an option for them (especially since there were no other treatments available), and they seemed healthy enough to try.  BMT had never been done before on an MSD patient, but it is actually used to treat some of the same enzyme deficiencies that we have with MSD.  We knew that it may or may not work, but we were excited to take the steps forward.

In May 2020, covid had eased enough for our family to travel to Minneapolis to meet all the doctors in person that were necessary to make our BMT decision.  There were many emails with the BMT doctor and conference calls with our MSD doctors that urged us to move forward. quickly, before a regression took place.  Thankfully, our health insurance was willing to pay; there were no battles there.  We all decided that Grace would go first since she was the oldest, and Grant would follow soon after.  After learning of all the details and commitments necessary, we were ready to fight for our children’s life.  We would do anything to save them.  We would make our family vulnerable with the hopes of creating a treatment for MSD.  We would undergo BMT to hopefully save our children and others with MSD.

September 14, 2020, Grace and I said incredibly hard goodbyes to our family.  Tears were everywhere.  I could not hug my husband, my oldest daughter, or my son LONG enough. I did not want to let go. Grant was only eight.  How could he understand me leaving him?  Moms aren’t supposed to leave their kids.  I drove away, leaving the ones we love in the driveway, not knowing if our family dynamic or life at home would ever be the same.  Every single part of me wanted to turn the car around, but I knew I was doing the right thing.  God carried me each mile to Minneapolis, and I knew this was my children’s chance at having a future.

The first few weeks in Minneapolis were extremely busy.  Grace had every test, every scan, to make sure her body was healthy enough to endure what lyed ahead.  She passed her pre-bone marrow transplant evaluation.  Grace would be the first child in the world to have a bone marrow transplant for MSD.  My child…deep breath!  Grace then went into surgery for a central line catheter, a g-tube (only for BMT), and lumbar puncture for research.  The central line was needed to give aggressive chemotherapy, medicines and the NEW CELLS to give her a second chance at life.  The g-tube would give access for the many medications and nutrition needed to sustain life through this process. The CSF fluid from the lumbar puncture would give important transplant data when compared to post transplant CSF, hopefully proving the transplant was successful.

Grace willingly walked into the hospital for BMT with her Scooby Doo backpack full of her favorite things.  Our happy and healthy child was about to endure one of the riskiest medical treatments available.  Grace loved showing the hospital staff her dancing skills, even with all the medication lines hooked up to her.  It was impressive!  She shocked everyone by dancing after her body had been filled with days of chemotherapy.  It gave us many smiles and laughs, but the chemotherapy would take its toll soon enough.

On October 16th, 2020, Grace received a second chance at life from her donor.  Her room was decorated with rainbows (to remind us of God’s promises), and the first snow of the season began to fall right before fresh, new cells were released through her central line.  A 24 year old female, a donor off the German registry, had no idea that her cells would be shipped across the world to be used in the very FIRST transplant of its kind.  So MANY doors had to open for our family for this transplant to take place.  Grace slept through most of her transplant.  The IV Benadryl would make her sleep quickly every time, but we had a beautiful cake to celebrate when she woke up.

Two weeks after chemotherapy are when major side effects typically hit.  Grace was bruising and bleeding easily.  Grace was never ready to lose her LONG hair.  She was given the option to cut her hair shorter or to dye it a fun color, but she was NOT interested.  She thought that she could just WISH not to lose her hair and that would keep it from happening.  Sadly, that was not the case.  When the time came, Grace was incredibly brave.  She loved her hair, but she asked her daddy to shave it.

Grace showed incredible strength many weeks later.  She asked me when her hair would come back.  I told her that it would be a long time before she would have long hair again. I asked if that bothered her, and she said, “No, I just ignore it.” Ignore it?  What?  How impressive!  I wish I could be more like that as an adult.

I tried to FaceTime my husband and son at least daily in-between caring for Grace. I was missing my son fiercely since I had not seen him since leaving home.  My husband would come up every other weekend, staying over two weeks during transplants.  Back at home, he was managing work and my son (his mom was also there to help).  Goodbyes with my husband were hard, not knowing what the situation may be like the next time he arrives to Minneapolis.  This was all during a PANDEMIC.  Patients could only have the same two visitors, and the hospital BMT family lobbies were NOT open to meet other families going through the same process.

Grace was released from the hospital on Day +39.  It was emotional to walk out of that hospital knowing what she had endured…and survived.  What a joyful day!  Grace and I stayed in our bubble, close to the hospital in Minneapolis. This is required until being released from BMT around Day +100 if there are no complications.  We daydreamed of every detail back at home, we daydreamed of being with everyone and of going to fun places like Target.

On December 23, 2020, Grant and I united after not seeing him for 100 days.  I had dreamt of this moment for months, and now I could finally TOUCH and squeeze him.  As happy as I was, my heart hurt because I knew it was now time to get ready for Grant’s bone marrow transplant.  We were so excited to celebrate Christmas as a family, in the “bubble” of course.  Before we rang in 2021, we found out that because of our family’s story, the very first bill for MSD was passed by the House, the Senate, and signed by the President of the United States.  This bill requires the NIH to give the appropriations committee an account of their MSD research going on each year.

My mother-in-law was staying with us in Minneapolis.  She would now provide full-time care for Grace since I would need to be at the hospital with Grant.  I was back to a busy schedule all over again, but this time with Grant.  Grace also made sure to fill Grant in on all the BMT details she could remember.  Grant passed his pre-transplant evaluation.  Our health insurance gave his BMT a GO, and then Grant went into surgery for his central line, g-tube, and lumbar puncture.  This process did not feel much easier the second time around, but I had to TRUST!   After a few weeks of healing, it was time for Grant to enter the hospital for BMT.

Grant entered the hospital with a smile on his face, carrying a box of bey blades and his Toy Story backpack full of his favorite things.  Grant has always been a comedian, and I knew he would give great pleasure to those around him in the hospital.  In the beginning, he would hit his “nurse call” button every time I left his room, asking his nurses to come play with him.  Once his lines were hooked up and he was connected to the pole, Grant told me, “I feel like a dog on a leash.”  That was a great way to look at it, but this would be a way of life for a while!

It was time for Grace’s Day+ 100 celebration in the BMT Journey Clinic.  This is a time to celebrate the accomplishments and the hardest, most dangerous part of the BMT process being behind you.  Grant had only been admitted for two days, having his first treatments the day prior.  Grant did not have any treatments on this day, so I had a nurse come watch Grant while I went to the other side of the hospital to celebrate 100 days with Grace.  It was a beautiful milestone to celebrate…such a big deal… and there I was AGAIN, going through the same BMT process upstairs with her brother.

On February 1, 2021, Grant’s BMT room was filled with over 40 foil star balloons.  Stars were the BMT theme for Grant.  His room looked stunning, and after enduring a hard week of chemotherapy, he was ready to receive the most precious gift ever given.  Grant’s donor was a 39 year old male from the US that was eager to give him new life.  Grant’s received so many donor cells that his bone marrow transplant was split into two different times: morning and evening.  The smell of creamed corn never left his room for days.  The smell comes from the preservatives used to freeze the cells.

Grant had many ups and downs during his BMT.  His heart was angry from the chemotherapy.  He had reactions to many of the medications.  The nurses would kept anaphylaxis treatment close to his hospital room in case it was needed.  Grant spent many days under the covers, but he would always perk up when it was time for hospital bingo or when a child life or the music therapist would come into his hospital room.   Grant also really loved the hospital’s gaming systems and movies!  A few of the doctors and nurses would stop by to game with him.  We would FaceTime Grace, and I would rush over to see her in person when I could.  I would often meet her in the BMT clinic across the hospital or to give her a hug before she left therapy at the hospital.

Grant left the hospital on Day+50.  The hospital staff gave us a huge cheer as we left the BMT floor.  I was beyond excited to have Grant and Grace together again. I was overcome with happy tears as I drove Grant and I back to the Ronald McDonald House to join Grace again.  I also realized how blessed I was to have two children survive BMT.  Sadly, some of our friends were not so lucky.

Grace and Grant suffered a lot during their transplant processes, both getting pneumonia and hemorrhagic cystitis.  Grant also got a plural effusion, an injury to a kidney, and VOD (his liver wasn’t working properly).  Even during these complications, Grant and Grace both showed incredible strength and bravery.  We all stayed in Minneapolis until after Grant’s Day+ 100 celebration.  We were thankful to the population masking to help keep us safe during covid. My hair had not been cut or colored in eight months, nor had we gone into stores or restaurants.  We could not be more thrilled to go home.  We would talk about what we would do first once there and what we would do after that.  We were all so excited for the little things in life, but it was also strange to leave behind the hospital and staff that had become our new normal.

May 29, 2021, was the big day. We were finally back at home as a family.  We had a huge welcome home sign in our yard, beautiful green grass, five acres to run, fresh strawberries growing plentiful in the garden, a full kitchen to make whatever we wanted to eat, and bedrooms full of things missed were graciously awaiting us.  We had waited for this moment for so long.  This was the closest experience to Heaven on earth!

Grant and Grace are happy and healthy at home, showing only a few signs of what they have endured.  We have recently come out of the tight isolation bubble.  Grant’s immunity climbed enough for them to start back to school at the end of March.  This was the most excited they have EVER been about school.  They were all smiles and so happy to be with friends again.

Grace and Grant have stated receiving all of their re-immunizations.  This is not for the faint of heart!  We have since traveled back to MN three times for check-ups.  Grace’s engraftment numbers are going up and down; Therefore, she is being monitored closely to make sure she does not need a boost in stem cells.  I TRUST that the Lord did not open so many doors for Grace, just to take her transplant away.

Now our kids have an extra birthday.  Grant has celebrated his one year transplant birthday.  Grace’s two year BMT anniversary will be in October.

The kids have asked me if their BMT cured their MSD.  I have been honest with fact that they will likely always have MSD, and that we do not know what the transplant will do just yet since they were the first in the WORLD for these procedures.  I pray these transplant birthdays will end up being a celebration of a treatment being created for MSD.  My children are literally walking research. 

Back to where it all started, the World Symposium in February 2022, the most current scientific data from Grant and Grace’s transplant was presented on a poster.  “Patient 1 and Patient 2,”  I learned at the same time as the rest of the world, what transplant is doing for MY children.  Transplant data looks promising and we are excited for the data that is to come.  I am hopeful to advocate for MSD newborn screenings in the near future.

We are forever grateful for the hard work and dedication of the physicians at M Health Fairview University of Minnesota Masonic Children’s Hospital, to our MSD doctors at the Children’s Hospital of Philadelphia (CHOP), and to our health insurance for making these bone marrow transplants a possibility.

RARE disease life has taught us to live life to its fullest, to savor each precious moment, seeing beauty in life’s details, because we do not know what tomorrow may bring for our children.  We will trust that GOD is writing this book.