We Finally Find an Albright Hereditary Osteodystrophy Specialist
God Came Down from Heaven Today and Kissed My Son Tristan! We found an Albright Hereditary Osteodystrophy Specialist.
Late January 2010 – Last Wednesday when Tristan received his autism diagnosis of PDD-NOS, his developmental pediatrician suggested we start to see another doctor who just transferred to the Kennedy Krieger Institute (KKI) from Johns Hopkins. Her name is Dr. Emily Germain-Lee, and she is an endocrinologist who his developmental pediatrician said has a soft spot for kids with endocrine disorders like Tristan. We thought it could not hurt, and it might be nice to have a doctor who already cares about those diseases.
So, we show up this morning, and of course the receptionists give us tons of problems with our insurance. This problem seems to recur with KKI, and from what I hear, many people have the same issues with the receptionists and the billing department. We were about to leave and walk out in exasperation when the receptionist said to wait and she would ask if Dr. Germain-Lee would assume the risk of the insurance company not paying, and see us anyway. Fifteen minutes later she comes back, and gives us the go ahead. We were taken in to get all of Tristan’s vitals and then escorted to a room.
Once in the room, a nurse comes in and asks us a bunch of other questions, and then Dr. Germain-Lee walks in. She was very friendly and thanked us for our visit. She sat down and asked “So what are you here for?” Michael and I both look at each other like “What?” She could tell we were puzzled, and said, “Are you here to be seen for research or as an endocrine patient?” By this time, I thought “Okay, what in the world is going on here, and Michael said “We were never told anything about research.” Dr. Germain-Lee said, “Do you happen to know a Dr. Fred Kaplan?” Dr. Kaplan is the research doctor at the Children’s Hospital of Philadelphia (CHOP) who follows Tristan’s bone growth in the skin (osteoma cutis). We told her we knew him (see Third Protector post). Well, come to find out Dr. Kaplan had been in contact with Dr. Germain-Lee within the past month, and told her about a family who recently moved to Maryland, but he never gave her any names. So this morning when the receptionist came into her and asked if she would see us, Dr. Germain-Lee asked for our file. Once she read a bit in the file, she recalled her email from Dr. Kaplan, and decided to see us even though we would not be able to pay today. Michael then asked her again what her name was, and all of a sudden it dawned on him who she was, and said “I read all your papers on PubMed related to AHO!” Dr. Germain-Lee is the lead researcher in the US and probably the world on Albright’s Hereditary Osteodystrophy (AHO).
Dr. Germain-Lee told us how she has done trials with several patients who have AHO, and she started to talk to us more about the disorder and how it affects people in general. We had seen an endocrinologist at Johns Hopkins earlier in the month, and Dr. Germain-Lee asked if we wanted her to assume this role as his endocrinologist. Michael and I both agreed that she would take Tristan as an endocrine patient, and then see him in her research protocol on the side. You should have seen this doctor light up when we agreed to let her possibly use Tristan in her research protocol. She told us, “You do realize how rare your son is?” We said, “Yes, we had been told.” To understand more fully what she meant by rare, Tristan is one of the only known people to have the mutation occur where it did in the GNAS gene at exon 1. So, out of all the patients she has ever seen with AHO and osteoma cutis, Tristan is the only one we know of to have the mutation happen where it did. She was like a kid in a candy shop as she talked about Tristan, like Tristan’s case was the most decadent chocolate she had ever seen or eaten. I sat there still stunned that finally we sat in the same room with someone who could and would actually help us with the AHO aspect of Tristan. Dr. Kaplan is wonderful, but he does not deal with the developmental or the endocrine side of things only the bone.
She then sat with us for over two hours, and went through all of Tristan’s history from the moment he was conceived to now, how, when, where … I mean details. I felt like I opened my soul to this woman about my pregnancy with him, then his failure to thrive, his developmental, physical, occupational therapy issues, eyesight problems, and everything else related to Tristan We told her how when we found out about his osteoma cutis we read all the material on the Internet we could find, and how we literally thought Tristan would be dead at an early age. We told her we were desperate, and how Michael stopped his PhD temporarily, and did nothing but research Tristan for six months solid. Tristan owes his life to his father in my book, and by the grace of God. Without his father’s vast knowledge in science and confidence, Tristan would be dead. There is no way on this earth that people without the knowledge or capabilities of Michael would have been able to figure this out and literally directed physicians on Tristan’s care. We have three-ring binders called “The Tristan Project”, and Dr. Germain-Lee was very impressed even though to us did not seem organized. Michael was able to show her the actual sequence of Tristan’s GNAS gene, and where the coded protein had been truncated. She was ELATED. She wrote everything we talked about down, and filled pages and pages of her legal yellow note pad. She copied many documents we had in the folders. She was able to shed light on why Tristan’s toe nails curl up and why his fourth metacarpal (ring finger) has a dimpled knuckle … there is still so much to learn about our son. She also said most of her patients with AHO also have PDD-NOS. She is going to follow his endocrine issues, but she also ordered for him complete bone scans of many joints in his body to see how his bones have changed since the last one done at the National Institutes of Health (NIH) when he was a little over one year old.
She will take his blood to determine his current growth hormone levels, because most male AHO patients only grow to an average of 4’ 9” to 5’1”, and women are even shorter. Tristan is already very short for his age. We also asked her about speech therapy for someone like Tristan, even though it was not her specialty. We told her about how his county school system IEP only specified 2 hours per/month of intensive speech therapy. She literally laughed out loud, and said with the caveat that it was not her specialty, at a minimum he should probably receive that amount per week, and probably needs more if he is ever going to speak. I thought “FINALLY, I have a WARRIOR DOCTOR WHO IS GOING TO FIGHT WITH ME AND HELP ME GET MY SON HELP!”
As I write this I have chills, because what happened today was simply God kissing my family and loving my family. I have been through HELL and back for Tristan. There were days when he was a new baby, and I thought he would die and not make it. I do not know how Michael and I survived those days, but it is days like today that make it all worthwhile. Tristan is like GOLD to this woman – she feels Tristan might be able to help others by this research with Dr. Germain-Lee because of his rarity. I feel for the first time someone finally really cares besides Dr. Kaplan, and is a doctor who can truly change Tristan’s life. She will do everything she can to help us, and will follow Tristan’s condition into adulthood. When Dr. Germain-Lee finally left the room I cried, because a huge burden was lifted off my chest.
Thank you for the vested interest in my son, and the time to read my book in this email, but like I said in my Facebook post earlier. Today’s emotions are hard to put into words. If I could run a million miles or dance on the tallest mountain today then I would, and I would go through my Hell with Tristan all over again to be here today.
Dr. Germain-Lee heads the Albright Clinic at Kennedy Krieger Institute. Donations can be made to KKI specifically for Dr. Germain-Lee’s research efforts in Albright Hereditary Osteodystrophy. Thank you for your support.