While I have never written a blog before, several people have suggested that I document our journey so others can follow it because they want to help, want to know more about Willow’s condition, or want to know how she is doing. My hope is that other families who may be going through this nightmare may see this and learn from our journey, and can avoid some of the pitfalls we have found along the way. Over the last few months, I have searched the internet for anything written by other parents whose children have been diagnosed with Multiple Sulfatase Deficiency (MSD) or any other Lysosomal Storage Disease. Though these words are often heartbreaking, they have helped us and have encouraged me to share our story.
I’ll start at the beginning.
Many Doctors and Unanswered Questions
Willow is our youngest daughter. She was born August 21, 2013 at 8 1/2 lbs. My pregnancy was normal and the C-section birth was just like my two other children. The only initial difference we observed was that while Willow was born at a normal weight, she didn’t grow quickly. She was always in the 0% percentile on the growth chart. Even now, at 3 years old, she only weighs 25 lbs. and has not gained any weight in the last year. She was dainty and petite, but otherwise seemed okay.
At 18 months, she crawled and walked. This was a little later than our other girls, Kylee 13 and Jenna 10. During the day, Willow attended daycare, so her constant runny nose and ear infections seemed typical of other daycare children. She is non-verbal, and has never talked. We assumed it was because of the ear infections, and suspected that enlarged adenoids might be blocking her ears. My family thought she didn’t talk because she had older sisters who talked for her. They figured she could talk, but she just chose not to.
In the summer of 2015, Willow saw a speech therapist. Immediately, the therapist noticed that Willow had both a tongue tie and a lip tie. We went to Hattiesburg to a dental specialist for a surgical consult, hoping that fixing the tie would allow Willow to talk. The dentist informed us that we needed to get further testing, and advised against the surgery until we knew more.
Willow’s skin was also very dry. She had cradle cap and severe dry skin on her front and back. We consulted with a dermatologist, who gave us prescription shampoo. We noted each symptom, but weren’t sure if they were symptoms of a bigger problem or just individual conditions.
In the summer or 2015, Willow had tubes put in her ears. She also had her adenoids removed right after her second birthday in August 2015. We hoped for the best. However, two months later we were back at the pediatrician’s office. Willow still wasn’t talking. She still had balance issues and her symptoms were not improving. At this point she had both a physical therapist and a speech therapist.
Our pediatrician referred us to an endocrinologist and a pediatric neurologist. The endocrinologist checked her blood for some any type of hormone issues. The report came back essentially normal. We met with the neurologist next, expecting more of the same. We live in South Mississippi, which lacks the larger medical base of larger cities. However, we are fortunate to have the best pediatric neurologist right here in our town. Dr. Lee knows a lot about genetics. I thought he was going to look at a scan of her brain to make sure she didn’t have a brain tumor. I knew nothing of genetics or genetic testing. He examined her in January 2016. We shared all of her symptoms with him, including her dry skin, small stature, non-verbal language, and developmental delays. Though he thought she seemed fine, he recommended a genetic test to make sure we weren’t missing something.
We have learned so much about genetics in the past year. Our bodies are made up of cells, and each cell contains our unique DNA. Our DNA is essentially a recipe book, made up of 20,000 genes, or pages in the book. All of us have at least 5 pages in our 20,000-page book that contain misspelling or errors. Some pages are missing entirely (called deletion). In most people, the 5-or-so incorrect pages don’t do anything. In a few people, they cause issues.
When a genetic test is ordered, the lab normally won’t test all 20,000 pages. They chose a chapter of the recipe book to test. Why? Because to test each individual page is very expensive, and insurance doesn’t cover it. Instead, the doctor has to deduct which chapter to test. This can be especially tricky, as often the wrong tests are ordered.
Thankfully, Dr. Lee ordered the correct genetic screen. It searched through all of Willow’s recipe book and looked for missing or deleted pages, as well as some other common misspellings. The screen found that Willow had a deletion of one her pages, which she inherited from Tom or I. Finally, we had some answers. Had she not had a deletion we still might not know what the issue is.
Willow’s screen reflected that she is positive as a “carrier” for Multiple Sulfatase Deficiency, or MSD. MSD is a rare Lysosomal Storage Disease. This means that cells don’t function properly, causing a build up of proteins in the lysosomes. This impairs bodily function. It is a devastating disease causing major breakdown in central nervous system, muscles, lungs, eyes, etc. Most children with MSD do not live past 10 years of age. The doctor assured us that Willow being a carrier did not diagnose her with MSD, she could just be a carrier. Her blood was drawn again and we waited 4 long weeks for another test, this time to see if Willow had MSD.
A Phone Call I Will Never Forget
On May 9th, 2016, Dr. Lee called me at work. Willow was positive for MSD. Yes, he was sure.
Dr. Lee had never seen a child with MSD. He referred us to the Genetics Department at Keesler Air Force Base. Keesler does all the genetics work for the Department of Defense (Army, Navy, Marines) in Biloxi. The next week we met with the geneticist, Dr. DeCastro. He explained to us how storage diseases work, what MSD is, and what it means for Willow. We’ll examine this more in the future. Here is a great link on how storage diseases work. https://www.youtube.com/watch?v=61DRmSFgSFA
Dr. DeCastro had also never seen an MSD patient either. Again, we were referred elsewhere, this time to Dr. Kirmse at the University of Mississippi Medical Center in Jackson. Dr. Kirmse came from Children’s National in Washington DC. While he has seen two patients before with MSD, neither one left the hospital.
It took a week to get an appointment with Dr. Kirmse. A couple of days before the appointment, I had a business meeting in New Orleans. At the meeting, I shared my experience with everyone. I was met with an outpouring of concern and grief. At the end of the meeting, my friend shared with me that his friend’s daughter had the same thing. How could that be? According to the internet, there were only 50 known cases worldwide—ever! How could I know someone that knew someone that had MSD? He gave me a phone number for the family. I asked how the little girl was. He let me know that she had died at 8 years old, about 9 months earlier.
I called the mother of this little girl. It was the hardest conversation I have had thus far. I was forced to face the reality of hearing about a little girl that had the same disease that had not made it. It was devastating. I was heartbroken for the mother who had lost her beautiful little girl. Hearing the details of the pain and agony her daughter had gone through over the years tore me apart. It was just so sad.
She also told me about a closed Facebook group her family had joined. I joined right away. I spoke with a father in Ireland whose son had MSD. He said that there was hope, there had been some new research done, and that he had personally talked to the researcher in Italy. He was fundraising and had already raised over 500,000 Euro. Finally, we had a shred of hope. We began to make a plan. Willow is one of the youngest patients, there may still be time.
We went to the appointment with Dr. Kirmse. He explained the science again, and shared that while he had looked up clinical trials for MSD, there were none currently available. There was no cure and no treatment, except to treat the symptoms as they start to appear.
We needed to get Willow an eye exam because white matter builds up. She needed an MRI because the white matter builds up in the brain, causing the central nervous system to break down. We needed a bone scan, because the bones start to grow deformed which could lead to scoliosis. She would need to continue her speech therapy and physical therapy, and we would need to add occupational therapy. Dr. Kirmse said he would reach out to the metabolic doctors and see if anyone was doing any research on MSD. We shared with him about our new friend in Ireland and what he was doing. Dr. Kirmse encouraged us, and said that was how many treatments had been found, and that many clinical trials are pushed through by parents and patient advocates.
Tom and I drove back from Jackson with Willow. We had a start. We had a plan. We had hope.
Thank you for reading this, and for sharing in our journey.