When we first laid eyes on our baby girl Adalynn (Addy) it’s safe to say we, two dark haired parents were shocked to see our daughters Snow White hair.
As parents we knew it was strange that her hair was so light but we thought very little of what we thought was a little detail in our daughters life…little did we know that “little detail” was soon to change our lives. It was at Addys’ one month check up that the pediatrician suggested looking into an Albinism Diagnosis… After a few weeks of waiting the Albinism Diagnosis was confirmed by the ophthalmologist.
We soon realized we knew very little if anything at all about Albinism so we did what most parents nowadays would do we turned straight to “Dr. Google”. It was then that we learned rather quickly that genetic testing would be very important moving forward because there is potentially life threatening types of Albinism. After months of fighting for Genetic Testing May of 2020 an already crazy year, our fears were made reality.
Addy did indeed have Hermansky Pudlak Syndrome Type 1. It’s scary as a parent to be told that your baby has a medical condition that some if not most doctors and people knew very little about.
It’s even more scary to be told there is no cure at this time. Shortly after the anxiety and fear settled what little bit it could we got in contact with the HPS Network and what a game changer that was for our family. We were able to build a relationship and a family with people all over the world who knew exactly how we were feeling. A family who has been in our shoes.
A family who like our own will be by your side while you deal with the effects of the diagnosis that changed our lives forever. A family who like your own will fight to help find a cure.
Even now in the midst of the uncertainty moving forward we trust not only in the love we have for each other and the plans the Lord has for our sweet girl, our future children, and our family but we trust that we have a connection with people who will be there like family every step of the way.
My rare journey: Well, let’s start with not having a lot of answers from physicians and being on an emotional roller-coaster. I was 11 weeks old when I got the diagnosis of Hermansky-Pudlak Syndrome from my ophthalmologist Dr. Hurdle.
After a 28 day hospital admission, the ball went rolling with going to Overbook School for the Blind in Philly. Then, we found through NOAH in 1995 at one of their conferences Donna Appell who has been a life saver to our family for over two decades and so much more. Living a rare life is amazing because I get to show off my rarities along with finding new talents. Also, it means so much to me knowing that no isolation will be present. The Network is so inspirational and life-changing.
My life long journey all these years being in the network has been immeasurable. Growing up and being the youngest member brings back many many memories.
An estimated 22 people die each day waiting on a life-saving organ transplant according to the Mississippi Organ Recovery Agency, or MORA, as they celebrate National Donate Life Month. One local mother is now working closely with MORA, keeping her daughter’s memory alive as she continues on, turning tragedy into a purpose.
Ellen DuVernay is the mother of an organ donor. She said, “She was just the most amazing person you would ever want to meet, always had a smile on her face.”
But the tears freely flowed one fateful day six years ago, on September 20th, 2011, 26-year-old Brittany DuVernay Saucier’s life was unexpectedly cut short. “When I got to her, she was in a full blown seizure. I just held her in my arms. I just, I guess motherly instinct, I just knew that was it,” said Ellen.
This happened after a horrible golf cart accident. “We came to Memorial and she had a brain bleed and she lasted until the 22nd which was just two days later and the doctors said there was no brain activity.”
At that moment, facing another difficult situation, Brittany’s family decided to honor her decision after learning Brittany had already signed up to be an organ donor. Her sister, Kortney McCaffrey, said, “It didn’t surprise me at all when they told me and to me it was exciting because this wonderful woman could actually live on to make someone else happy.”
That’s exactly what she did. Five people received the gift of life, a second chance, after receiving organs from Brittany, including a woman, Nancy from Texas, who received Brittany’s lungs. “It was just amazing to see this woman full of life now and to hear her sing cracks me up because it’s such a sweet sound knowing that is possible because of Brittany’s lungs,” said Kortney.
And on this day, Brittany’s mother and sister carry on her legacy, working closely with the Mississippi Organ Recovery Agency at Memorial Hospital, encouraging everyone who walked by to sign up to be an organ donor so they could potentially save lives just like Brittany. “We were blessed with 26 of the most amazing years with her. I would want to give that opportunity to another family,” said Ellen.
Candice and Crystal Sipe’s Story
Identical twins Hema and Rama arrived in Phoenix, AZ. August 3rd, 1981 from Hyderabad India. They had just turned a year old August 1st. Hema weighed 12 pounds, Rama 13 pounds, very small for a one year old child.
Since they were Albinos, their adoptive parents, Joe and Karen Sipe chose to give them names that represented white, clear, pure, and crystal. So, Hema became Crystal Dawn and Rama, Candice Diane. They were very white with blond curls and their eyes were in constant movement. School was hard for them, and because of legal blindness, all of their books had to be enlarged. It took them longer to do their school assignments, because of the nystagmus of their eyes.
After severe illness, Candice and Crystal were diagnosed at the age of 13, with a rare disease called Hermansky-Pudlak Syndrome. It is a genetic metabolic disorder, which causes albinism, a visual impairment, a platelet dysfunction with prolonged bleeding, and progressive symptoms including pulmonary fibrosis, inflammatory bowel disease and kidney disease. Candice and Crystal’s pulmonary functions range between 65%-69%. Their pulmonologist is amazed that they are able to sing and give concerts.
When Candice and Crystal were two, their parents noticed their natural ability to sing. By age four, they began singing in their home church, where they accepted Christ as their personal Savior at the age of eight. Over the years, they have performed at many places including talent shows, school choirs, churches, fund raising events and weddings. For several years they sang with a Victorian group called “Little Women,” but felt God calling them into the ministry.
After many requests for recorded music, Candice and Crystal had the opportunity to record their first gospel CD. Many people thought the two sounded like Angels whenever they sang and that’s how they got there name. “Angels In Voice.”
Candice and Crystal never imagined that their ministry would allow them to sing in so many places. The Lord has opened many doors for them, and has given them so many opportunities to minister. It was in the summer of 2001 that the twins had the honor of performing at the People’s Genome Celebration & Genetic Alliance Annual Conference at the Smithsonian Museum of Natural History & Hyatt Regency Hotel on Capitol Hill in Washington D.C.
In January of 2004 Candice and Crystal recorded a second CD, They pray that their music will encourage people and bring many souls to Christ.
Candice has always been in and out of the hospital her whole life. Most of it has been HPS related. In April of 2005, she was diagnosed with Hepatocellular Carcinoma. (a rare form of liver cancer) She had a 12.6cm tumor along with 60% of her liver and her gal bladder removed. She spent two and a half weeks in ICU. A couple day’s after surgery, Candice took a turn for the worse. The doctor’s told Joe and Karen that it was all in God’s hands; they had done all they could do for her, and that she would only live about a year. The family was in turmoil during this time, especially Crystal. She had to see Candice go through all this. They relied on God and so appreciated their church families help during this difficult time. She was able to come home after six weeks in the hospital. We had prayed for a miracle and believed we received it, especially since the Ventilator was inserted four different times. Praise God her vocal cords were not damaged.
Candice continued to do well after her surgery. She and Crystal started ministering again in churches throughout the valley. Candice wrote a song when she was in the hospital called “Thank You Jesus.” The song tells us that we may have trials in our lives, but to remember Jesus is right there to help us every step of the way.
In September of 2006 Candice’s cancer returned. Through answered prayer we were able to seek treatment at the Mayo clinic. Dr. Mulligan sent Candice for several tests, she also saw many specialists. On November 8thshe had surgery to remove an 8mm spot on her lung. Tests showed the cancer had metastasized.
That was truly devastating for her as well as her family. Three weeks later she had a chemoembolization treatment done to kill the 5.2 cm tumor in her liver. That left her feeling very sick and weak for a couple of weeks. Since her recurrence in 2006, Candice has been following up with Dr. Mulligan every three months. As of 2013 she has been doing well.
She knows that God still has a plan for her life. She and Crystal just take one day at a time praying that the Lord will continue to use them and give them strength. The ladies were given the opportunity to record their third CD, which came out April 1st. They would like it to be a blessing to those who hear it.
Candice and Crystal give a benefit concert yearly, raising money for Hermansky-Pudlak Syndrome research. They are grateful for their ability to contribute to this worthy cause. The twins also feel so honored to be able to sing at the HPS conference every year. God has also given them the opportunity to sing in International churches in Arizona. The Eastern Indian Church (Logos Mission Church) An Arabic Church, a Jewish Church of born again believers, a Romanian Baptist Church and a Hispanic Bible Church.
Candice and Crystal thank God for blessing them with voices to sing his praises, as they glorify him, through music. They know only through his power and love, they can continue spreading his word.
Heather Kirkwood’s Story
Heather Kirkwood’s mother always suspected her children had a bleeding disorder. During their childhood Heather and her younger brother were tested four different times for suspected bleeding disorders, but every time the tests came back negative. At 21, after two years of fighting what had been diagnosed as Crohn’s disease, Heather was severely bleeding from her large bowel. Doctors felt an ileostomy was the only solution, but were concerned about the bleeding. It was then that a hematologist suggested she might have Hermansky-Pudlak Syndrome.
At the time so little was known about the syndrome, and so few people diagnosed, that the diagnosis was made based only on clinical presentation. Heather had no idea HPS was at all related to albinism, or that it put her at risk for pulmonary fibrosis.
A decade later, while seeking a second opinion for an unrelated complaint, a physician asked Heather for more information about HPS. “I’d been told it was a minor bleeding disorder and was easily treated, so I never thought much about it,” explains Heather, “I went online to do some research to answer the doctor’s questions, and it was only then that I discovered how serious this syndrome can be.”
Heather immediately reached out to the HPS Network for support, and within months, was participating in research at the National Institutes of Health. “It’s such a hopeless feeling to learn you have a disorder that, ultimately, is 100 percent fatal and for which there is no cure. Even though I was still very healthy, the anticipation of what might happen one day was overwhelming,” Heather explains, “By participating in research I had something solid to be hopeful about.”
Three years later Heather’s CT scan began to show pulmonary fibrosis. Heather entered a three-year clinical trial for an investigational medication to treat pulmonary fibrosis. While for Heather participation was an easy choice, it wasn’t without costs. For three years Heather went to the NIH every four months for a week. The visits used up vacation time that might have been spent on holidays or with family and friends. “It was worth it, “ says Heather, “Without participating in research, I know for sure what the future holds. Research is the only thing that can change that future. It gave me back some of the bitter sweet unknown about the future other people take for granted. It gave me back my hope.”
At the end of the study Heather learned she was on the placebo. She was surprised. When she began taking the medication, every alteration in her body felt like a cause for hope – a sign she might be on the active drug. The diarrhea she experienced in the beginning, some of the rashes that came along later, even an improvement in pulmonary function tests made Heather feel sure she was on the active drug.
After getting over the surprise of learning she was on the placebo, Heather says she doesn’t regret the experience one bit.
“Even though I was on the placebo, I’d do it all over again. It’s what we have to do to find better treatments someday. Without clinical trials, patients like me have no hope.”
Today Heather works as a freelance writer as well as advocate for those with HPS. She is anxiously awaiting the next opportunity to participate in another clinical trial.
Tuesday, April 6th is HPS Awareness Day!
Starting in 2019, the HPS Network designated April 6th as HPS Awareness Day. Why April 6th? That is the HPS Network’s birthday, as we were incorporated as a 501c3 on. April 6, 1995. What is HPS Awareness Day? It is our one day in the year to recognize and spread awareness regarding Hermansky-Pudlak syndrome. We encourage our members to share what HPS is, their family’s experience with HPS, and to fundraise for a cure.
How can you be a part of this great day? In previous years, our members have hosted movie nights, dinners, Just Dance parties, and Facebook fundraisers. This year we have the new tool, Donorview, which allows members to set up their own personal fundraising pages that can be shared on social media, text, and email.
You can GET STARTED TODAY!
What is that spotted ribbon? In 2019, we also unveiled our awareness ribbon, red with black polka dots. The dots represent the dense granules on the platelets that help with clotting. They are what we hope to have when we find a treatment.
On HPS Awareness Day we encourage our members and their supporters to wear polka dots and the colors red and black. This year we will hold a virtual celebration with our members, family and friends on Gatherly.
Stay tuned to details! Email email@example.com for information regarding our games night on Gatherly on HPS Awareness Day and to set up your own fundraising page.
Annual HPS Christmas Concert Jingles and Jazz 2020 was held on December 12, 2020
This year, our annual Jingles and Jazz Christmas Concert was virtual.
Spooktacular Party was on October 30, 2020. Everyone had a great time! Thanks for attending.
In this German study, attention was given to renal (kidney) disease in HPS. Zebrafish, which have similar genetic structures to humans, were used. Results showed that HPS proteins in certain types of HPS caused injury to the kidney in the Zebrafish. This study gives the HPS community an alert to monitor renal function with simple blood and urine tests. Medical treatment can slow the progression of the disease if it should be present.
Item 1-1 of 1 (Display the 1 citation in PubMed)
- Sci Rep. 2019 Nov 27;9(1):17718. doi: 10.1038/s41598-019-54058-5.Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model.
Schenk H(1)(2), Müller-Deile J(3)(4), Schroder P(5), Bolaños-Palmieri P(3)(4), Beverly-Staggs L(5), White R(5), Bräsen JH(6), Haller H(3)(5), Schiffer M(7)(8).
Author information: (1) Department of Medicine/Nephrology, Hannover Medical School, 30625, Hannover, Germany. Schenk.Heiko@mh-hannover.de. (2) Mount Desert Island Biological Laboratory, Salisbury Cove, ME, 04672, USA. Schenk.Heiko@mh-hannover.de. (3) Department of Medicine/Nephrology, Hannover Medical School, 30625, Hannover, Germany. (4) Department of Nephrology and Hypertension, University of Erlangen-Nurnberg, Erlangen, Germany. (5) Mount Desert Island Biological Laboratory, Salisbury Cove, ME, 04672, USA. (6) Institute of Pathology, Nephropathology Unit, Hannover Medical School, Hannover, Germany. (7) Department of Medicine/Nephrology, Hannover Medical School, 30625, Hannover, Germany. Mario.Schiffer@uk-erlangen.de. (8) Department of Nephrology and Hypertension, University of Erlangen-Nurnberg, Erlangen, Germany. Mario.Schiffer@uk-erlangen.de.
Hermansky-Pudlak Syndrome (HPS) is a rare disease caused by mutations in the genes coding for various HPS proteins. HPS proteins are part of multi-subunit complexes involved in the biogenesis of organelles from the lysosomal-endosomal-system. In humans, this syndrome is characterized by the presence of albinism, platelet dysfunction and pulmonary fibrosis. The renal component to the disease remains unstudied and untreated in patients with HPS. Here we demonstrate that in humans, HPS proteins have a high renal expression with active transcription of HPS1, 3, 4 and 5 in human podocyte cell culture, suggesting that impaired function of HPS proteins could directly impact renal function. Therefore, we developed a zebrafish model to study the renal involvement of HPS proteins in proteinuric kidney disease. Remarkably, knockdown of HPS genes in zebrafish causes glomerular injury with edema, proteinuria and structural changes of the glomerular filtration barrier. Moreover, reduced expression of HPS proteins in zebrafish recapitulates other important disease hallmarks, like hypopigmentation and accumulation of intracellular debris characteristic of lysosomal disorders. In conclusion, we present a valid zebrafish model that highlights the previously underestimated relevance of renal disease in HPS. This draws attention to the therapeutic options available to manage this component of the syndrome.
DOI: 10.1038/s41598-019-54058-5 PMCID: PMC6881439 PMID: 31776394 [Indexed for MEDLINE]
Conflict of interest statement: The authors declare no competing interests.