Open letter to Congress:
I Represent my Daughter Penelope and the Classic Galactosemia members. There are many adult that need advocates because they are in group homes with many disabilities. I wish I could poetically articulate their struggles and needs. I wish I could inspire a miracle. Because as this point we need one. I know what we are up against, politically, medically, and financially.
We have been at a disadvantage since my IVF days. They did a panel of genetic test but somehow missed Galactosemia which is standard on newborn screening but not IVF genetic screening. There is no standard in IVF. In addition, most Doctors will only come across 1 patient with galactosemia in a lifetime. What they know is outdated and probably one paragraph in a book published 10-20 years ago. I am a nurse and I looked it up in my old nursing books and it was a joke.
4 years ago, I thought I hung up my stethoscope. I lost my Job because I had to make the decision of going back to work or taking care of all the medical unknowns in my daughter’s life.
Our first pediatrician at 8 days old said her positive screening was probably a false positive. Looking back at that visit I realized they were clueless. They took her temp, and she was hypothermic. The doctor said it was probably a environmental cause because she was naked. I blindly trusted her. ON the scale my daughter had explosive diarrhea and I remember the nurse saying she had never seen diarrhea that bad. And from my experience when I nurse reacts like that, pay attention. I been though enough codes that nurse don’t break a sweat at anything. So, for a nurse to react that way something was wrong.
August 8th was the worst day of our lives. Our first pediatrician had no clue about Galactosemia and sent me home with a dying baby. If I wasn’t a nurse, she would not be alive. The pediatrician completed a head-to-toe newborn assessment and sent us home. An hour later she was life-less in my arms. The team at her Children’s Hospital said if you waited any longer, she would have died. I am grateful every day no matter how hard the days are that I got to take my baby home. There are many heartbroken parents that don’t get that option.
Since then, I trust no one. There have been times where nurses and Dr have made medication mistakes because her genetic disorder is so rare no EMR(electronic medical record) can explain her dietary restrictions and Galactosemia. There are 7,000 rare disease and it would be impossible to any general medical provider to underwtand and be up to date on all rare disease. Classic Galactosemic and all rare disease contribute to med errors and misdiagnoses every day. Every two years my nursing license is up for renewal and must take a CEU on the medical errors and how to avoid them. Death by medical error or accident is the nation’s leading cause of accidental death. There is no safety net for rare disease. There is no medical data base or computer that can keep her safe. I must be her medical advocate every day. I am usually polite and quiet and don’t like to make a big deal about anything. I think I’m pretty-chill. But Penelope needs me and I have to be very loud, and clear to those who don’t listen or assume they know. Those are the most dangerous people. People who assume they know or pretend to know what is going on in her rare life. Penelope and I were destined to be together and apart of this rare and wonderful community. I will advocate and be loud until we find a cure.
There are so many more details and stories that I can share on her life and the difficulties that she faces. She is only 4 and has been through more battles than some adults. She has had blood transfusions, femoral lines, feed tubes, countless EEGs and blood work. She has had bloody stools, constipation and vomiting, GERD and gastritis. She has seizures and hand tremors. She is delayed in speech and motor development. She has sensory processing disorder and at times will gag if a certain texture come into contact with her skin. She has poor muscle tone and tires easily. She also has another Rare disorder of Chiari Malformation. She had to have decompression brain surgery around her 3rd birthday. So to just tell you she has been though a lot is an understatement. She is braver and stronger than anyone I know.
And despite all this, my strength and peace come from my daughter’s joyful happy perspective of life. She can find joy in anything. She is kind and caring and deeply sympathetic to anyone having a bad day. She is everyone’s cheerleader. She loves dance, music, art, eating vegan pizza and cupcakes, just like any other 4 yo. IF you met Penelope you would never know the battles she has faced because she is just such a happy, innocent, charming, little girl.
So when Applied therapeutics came into our life is was the first break I had at carrying my heavy heart as we navigate her difficulties. As a family we weight the benefits vs risk and took our time making the decision to join the drug trial. We joined and the day before our flight it was canceled due to covid concerns. No one would know the damage that covid would cause in our community. All research was halted not just with applied but all companys working toward a cure. Years of research lost on petri dishes at the Boston’s Children hospital labs and time lost as our children and adults continue with the progression of the disease.
About 3 months after starting the drug or placebo AT-007, I started see big changes in Penelope. I kept it to myself because I didn’t want to be that overly faithful something was changing. My husband and I would go back and forth talking about how well she was speaking but really didn’t think AT-007 had anything to do with it. We know to not get our hopes up. Then one day we had a day of excitement. My husband Rocky was outside cleaning his truck. He laid out a 10x4 ft roll of brown construction paper along with some markers. I was in and out helping my husband. I was upstairs and he called up to me. I came outside and he asked if did I draw this? Looking down the entire 10-foot roll was completely covered in little drawings of people. Just a week prior she was struggling in her OT session to draw even one line. I understand psychological effect of taking a placebo, but her progress is nothing short of a miracle. I asked her teacher and speech therapist who did not know she was taking a drug if they saw any progress and they bubbled over with nothing but positive things. And yet again I know pre-k teacher is not going to tell me negative things, so I took it with a grain of salt. The next week we had an OT session. Our OT bring a bag full of projects to challenge Penelope. Christina went through her entire bag and Penelope was able to work through most of what she had. The OT was amazed when Penelope was able to push through the work. There are too many things progressing for Penelope to not think that we are on the drug and its working. So it is even more difficult to think we may lose this drug. Or to emotionally go any longer not know whether she is on placebo or AT-007.
Unfortunately to due FDA holds and financial strains we are at risk again of losing our only treatment. This hold and possible denial mean we must go on longer. It is asking a lot from a 4 yo to keep going on in a drug trail she doesn’t understand. Please do not let this progress and treatment yet again fall through the cracks. We have sent many emails to the FDA for an explanation but only get the following responds “We are not allowed to discuss our interactions with pharmaceutics companies about their products with others, but we do understand the urgency of the situation.” I am not satisfied with that answer, and neither should you. My daughter’s life and health is at risk and there is no transparency from the FDA to make an educated decision on my daughters life. If I can’t trust most Dr’s to treat my daughter how can I trust the process with the FDA. I don’t know what is going on.
In the beginning we were told that if biomarker date shows improvement that the Accelerated Pathway Approval process would be used. But for some reason the data, that shows a decrease in galactitol by 50% is not significant enough. It’s very dishearten to be facing this crisis. That is why I have called each one of your offices to help. I don’t understand what it going on? We need your help. We must be able to come up with a solution. There must be a path or middle ground that can satisfy all parties. We as a group must help the Classic Galactosemia community. My daughter continues to make endogenous galactose in her body which causes progression of the disease every day. She is at a pivotal point in her little life because she could be provided early intervention with AT-007 to reduce the toxic galactose in her body. Please help my daughter and the Galactosemia community.
Thank you for your time and consideration.
Gillian Sapia RN
