Other people’s lives always seemed more effortless, but it took my daughter’s autism diagnosis to realize why.

I had no idea I was autistic. I knew I was different and I had always been told I was too sensitive. But I don’t fit the dated Rain Man stereotype. I’m a CEO, I’m married, I have two children. Autism is often a hidden disability.

I always operated with some level of confusion. I was able to achieve a lot and I used to attribute this to the strong work ethic I inherited from my dad but now I have no doubt that he was autistic, too.

My mind is always going a million miles an hour and I don’t really have an off switch. I need to finish what I start at any cost. I also used recreational drugs to smooth me through the challenges of social communication because I couldn’t do the chit-chat.

Autism is characterised by a need for repetitive patterns and challenges with communication. With every interaction, verbal or written, I go through a mental checklist: is my response appropriate? is it relevant? is this something only I am going to find interesting? is my tone right? Trying to follow social rules and adapt to an allistic [non-autistic] world is exhausting. No one sees what is going on inside my head.

I have to work really hard at friendships. I’m good at making friends but not so good at keeping them. Misunderstandings in communication can blow up quite quickly. I have very high expectations of myself and others, and my friends tell me that that can feel like pressure. The trade-off is that I am 100% dependable, very loyal and a lot of fun when I am feeling social. Autistic people have a high divorce rate. My husband is a very calm, grounded person, which is a good balance for me.

Originally from England, I spent a year in India looking for answers then I headed south to Australia. It is no coincidence that I moved to the opposite side of the world to try to find out where I belonged, where I would be accepted. My greatest fear is not understood why I am not like other people.

Like many adult women, my diagnosis came through the diagnosis of my child. It’s an increasingly common story. My daughter had behavioural differences and sensory sensitivities from quite a young age and she was diagnosed with autism at age seven. A year ago, I set up Autism Camp Australia, a charity for autistic children and their families. I was studying autism every day, constantly talking to parents, and it became very clear I had many of the symptoms myself. Even before I had my diagnosis confirmed by a specialist, I knew I had found the answer.

Suddenly so many things made sense. I was able to look back at situations and misunderstandings and understand what had happened. I’d been told my communication could be “off” sometimes – a bit intense, a bit abrupt. Having an understanding of my autism, I have been able to take care of myself better. I understand the differences between allistic and autistic communication, and when I need to rest and recoup.

Autism is mostly an inherited condition. The largest study of its kind, which involved 2 million people across five countries, suggests that autism is 80% determined by inherited genes. It’s not caused by bad parenting or by childhood vaccinations. It’s not a mental illness. Autistic children are not unruly kids who choose not to behave.

I hope my story would inspire others to seek out early diagnosis.

A few years ago, Muthamia was getting ready to welcome her second child. The pregnancy had no complications at all and her son Ferdinand Mutugi born very healthy.

All was fine in the Njuguna household until the boy developed a peculiar walking style.

“He would push his left foot ahead while walking and he didn’t seem to quite stand up straight,” Muthamia says.

Later, Ferdinand began falling while walking. He also started having a hard time standing up from a sitting position. Climbing stairs became a hardship and he couldn’t run as fast as he used to.
He would get tired very fast and even started walking on his toes. They took him to several hospitals and he was diagnosed with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD), is a genetic disorder characterised by progressive muscle degeneration and weakness due to changes in a protein called dystrophin that helps keep muscle cells intact.

Not ones to lose hope, the determined parents began taking Ferdinand for physiotherapy, hopeful that they would salvage the situation. In her free time, Muthamia would comb the internet seeking more information about the disease that was ravaging her son.

When Ferdinand was 10, the disease got more intense. He couldn’t walk on his own and would support himself on walls and nearby items in order to move. Eventually, he had to be confined to a wheelchair.

Getting the wheelchair for Mutugi was a particularly difficult decision for Muthamia. It hurt her deeply that her son who was once a playful and healthy boy was now deteriorating in front of her and the worst part was making him understand his condition and the changes he was experiencing. The struggles did not stop there, as teachers and people around him also did not understand his condition.

Today, Ferdinand at 15 is a calm teenager who excels in academics. Every year since 2013, Ferdinand has been going twice a year for Stem Cell Therapy. The treatment helps boost the vitality of his muscle cells. The stem cells are injected into the affected areas and this prevents the condition from getting worse by delaying the progression of the disease. If he had not been receiving the stem cell treatment, perhaps the situation could have worsened.

To manage the condition, Ferdinand has to do occupational therapy and physiotherapy to ensure the muscles don’t contract.

As Ferdinand grows into a young man, his mother faithfully hopes for a brighter future. “To parents with sons like mine, I ask that you don’t lose hope. Acceptance takes time. I cried for three years until I realised that the only way to help my son is to give him the care he deserves.”

Local injection of stem cells derived from autologous bone marrow shows promise in healing recalcitrant neuropathic diabetic foot ulcers.

Presenting the results at the European Association for the Study of Diabetes (EASD), Ahmed Albehairy, MD, from Mansoura University, Egypt, said: “In patients who received the stem cells, ulcer reduction was found to be significantly higher compared with patients on conventional treatment after both 6 weeks and 12 weeks of follow-up. This is despite the fact that initial ulcer size was larger in the stem-cell–treated group.”

After 6 weeks, median ulcer reductions were 49.9% and 7.67% (P = .001) in stem-cell–treated and control groups, respectively, and after 12 weeks, median ulcer reductions were 68.24% and 5.27% (P = .0001). Complete healing was achieved in one case in the stem cell–treated group.

“The healing mechanism may be due to the pure effect of injected stem cells, which is due to the ability of these cells to simulate angiogenesis in the wound bed, decrease excessive inflammation, and suppress scarring,” explained Dr Albehairy.

Nearly 10% to 15% of diabetic foot ulcers remain resistant to treatment, with up to a quarter eventually resulting in limb amputation. He noted that several types of stem cells have previously been used to promote healing in diabetic foot ulcers — broadly categorized into allogenic and autologous stem cells — and the stem cells have been used before to successfully treat diabetic critical limb ischemia.

Fibroblast cell lines derived from diabetic foot ulcer can be reprogrammed to a pluripotent state, which could provide a reservoir of autologous cells to help heal foot ulcers.

Asked whether he thought there was a future in the use of stem cells in healing diabetic foot ulcers, he was cautiously optimistic: “I think we need good properly randomized studies to explore this further.”

By study entry, 20 patients from Mansoura Specialized Medical Hospital, Egypt, with resistant neuropathic diabetic foot ulcers had already received 12 weeks of standard-of-care therapy (conventional treatment and proper offloading modalities) but had failed to respond; they were randomized (1:1) to standard of care (n = 10) or standard of care plus locally injected autologous bone-marrow stem cells (n = 10) for a further 12 weeks. Patients in both groups had a mean HbA1c of 8.3% and a mean body mass index (BMI) of approximately 33 kg/m2, and baseline ulcer sizes were 4.66 cm2 and 3.72 cm2 in the investigational and control arms, respectively.

Diabetic foot ulcers (DFUs) are the fastest growing chronic complication of diabetes mellitus, with more than 400 million people diagnosed globally, and the condition is responsible for lower extremity amputation in 85% of people affected, leading to high-cost hospital care and increased mortality risk. Neuropathy and peripheral arterial disease trigger deformities or trauma, and aggravating factors such as infection and edema are the etiological factors for the development of DFUs. DFUs require identifying the etiology and assessing the co-morbidities to provide the correct therapeutic approach, essential to reducing lower-extremity amputation risk. This review focuses on the current treatment strategies for DFUs with a special emphasis on tissue engineering techniques and regenerative medicine that collectively target all components of chronic wound pathology.

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Imagine your newborn child needing medical intervention to sustain his life. Imagine then having to navigate a labyrinth of health insurance policies just to bring that child home with sufficient nursing care. It might quickly become apparent that overcoming new and daunting hurdles may be the new normal. For Wilton residents, Kerrie Scofield and Emily Humiston, in fact every day presents a new challenge, and unforeseen miracles, in caring for their three-year old son, Jack.

Born six weeks premature, Jack received a tracheostomy for breathing and a g-tube for feeding immediately after birth. He spent the first five months of his life in the Neonatal Intensive Care Units at Norwalk, Yale and Boston Children’s hospitals. It would be almost two years before he was diagnosed with Hypotonic (floppy) Cerebral Palsy. Hypotonia is low muscle tone condition that makes every day movements, like sitting up and walking, difficult and exhausting.

The ensuing struggle to secure hospital-mandated home care further intensified their heartache over Jack’s unexpected and extensive medical needs. As Kerrie describes it, they did not qualify for Medicaid and would have to cover the estimated $9,000-per-week cost. Any hope of receiving Medicaid assistance would force them to make a choice: get divorced so Jack was part of a single parent lower-income household; uproot their older daughter Dana and move to New York or Rhode Island where Medicare is available regardless of income; or keep Jack in the intensive care unit at Yale while they waited five to six years the for Katie Beckett waiver, which grants families Medicare regardless of income.

Kerrie, and Emily, who is a life-long Wilton resident and Wilton business owner, instead, made another Sophie’s choice-like decision together: Kerrie would quit her job. “We were bringing Jack home no matter what,” Kerrie says as a matter of fact.

Never, Ever Give Up

In the few years prior to his diagnosis, Jack underwent extensive testing, and yet doctors were initially stumped, offering no definitive answers.

“They told us every unimaginable and horrible thing,” Kerrie recalls, including that Jack might never eat. “Jack had no gag reflex. I’m Italian. I envisioned big feasts and here they were telling me that my baby may never eat.”

When Jack finally came home from the hospital, a motor therapist began working with him. “She said we would just keep working and see what happens,” Kerrie explains. Less than a year later he had the trach removed and has learned to eat pureed food by mouth.

This and various other milestones reaffirmed something critical for Kerrie and Emily. “You never give up. You never, ever give up,” Kerrie avows. “People will tell you, ‘You can’t do this,’ or, ‘Jack will never do that.’ They will even say, ‘You will never afford that.’ Well, we are doing it. Jack is doing it. We will never stop trying to move forward.”

The couple’s optimism is grounded in the tremendous strides Jack already has made in his young life. In the hopes of further increasing Jack’s independence, Kerrie and Emily decided to pursue stem cell therapy to complement the vigorous multitude of therapies he receives on a daily basis. Kerrie started researching stem cell therapy on the clinicaltrials.gov website at the suggestion of a Boston Children’s Hospital neurologist. But for a variety of reasons, Jack did not qualify for any of the studies or trials at various institutes and universities in the United States.

“They either needed older patients, or patients with a different type of CP. Nothing ever matched,” says Kerrie, who, disappointed but determined, continued to research alternative stem cell therapy options.

She soon discovered a Facebook group with story after story about children who experienced very positive results from stem cell therapies outside the U.S., in Mexico and Panama. Ironically, it was a warning from the neurologist at Boston Children’s that led Kerrie to even consider international options.

“The doctor said, ‘Whatever you do, do not leave the country.’ He planted the seed. Telling me not to go is what put the idea in my head.”

Kerrie continued her exhaustive research, learning that Bioss Stem Cell, located in Monterrey, Mexico was a safe, reputable alternative with excellent care. Bioss opened in 2009 and focuses on regenerative medicine, offering Umbilical Cord Blood Banking, Platelet Rich Plasma and Stem Cell Therapy.

Dealing with challenges foreign to their previous life now will involve travel to a foreign land. After years of extraordinary measures to meet ordinary needs for Jack, Kerrie plans to travel with Jack to Bioss Stem Cell in Monterrey, Mexico–the furthest they have traveled to date. “From the beginning we said we have to try anything and everything. We are not going to let anyone or anything stop us,” Kerrie says.

In Mexico, Jack will undergo a week-long stem cell therapy during which he will receive stem cell stimulation shots the first three days, and on the fourth day, Jack’s own stem cells will be extracted, processed and reinserted by intravenous and intrathecal (spinal canal) administrations. The advantage of intrathecal administration is that the stem cells gain direct access to the spinal cord and travel into the brain. During the final days of therapy Jack will be observed to ensure that there is no infection or rejection of the stem cells.

While there is no scientific guarantee that the treatment will be effective, it is an undertaking that Kerri and Emily are more than eager to take on. “We are going into this with an open mind. Some patients have seen results right away, even the next day. Others have seen results within a few months. I’m trying not to get too excited. We know there is no guarantee,” says Kerrie.

Emily echoes these sentiments, “It’s so hard not knowing. This may be effective. It may not–but we have to try. We can’t wait three years for a study that may not ever become available to us.”

The Resolve–and Costs–are Ever Increasing

There are multiple hurdles in Jack’s path: Cortical Visual Impairment, auditory neuropathy and more recently seizures. He is non-mobile and non-verbal. The Scofield-Humiston family pursues multiple therapies, including physical, occupational, speech, oral motor (feeding), and Angelfish swim.

After his stem cell therapy, Jack will return to the Early Learning Center preschool at Miller-Driscoll, where he receives occupational and physical therapy three days a week. He will also continue to travel to Keep Moving Forward, an intensive physical therapy outpatient center in Long Island where his therapy is done with TheraSuit/Universal Exercise Unit (right), a body-positioning bracing suit that aligns the body as close to normal as possible in order to normalize muscle tone, and sensory and vestibular functions. Kerrie says the TheraSuit has been transformative therapy for Jack.

“The first day of his TheraSuit therapy he could not do anything on his own. But in that suit now he can stand in the corner by himself for two minutes, go from sit to stand, and walk with support. That is mind-blowing stuff for us to see!”

Of course the costs of all the efforts are prohibitive, but Kerrie and Emily couldn’t imagine not trying to do everything they can to help Jack. They acknowledge that the bad days come, just as they do for any parent, but their resolve and joy is as strong as ever.

“We were not expecting any of this. But even when we are tired and emotionally drained, we give ourselves the minute then begin again. You have to keep going. Jack is pure love–he inspires us every day.”

To learn more about Jack Scofield and how you can support him through a GoFund Me, please visit the “Love is Jack” Facebook page.

After tearing his shoulder in April, Owen Franks’ Rugby World Cup hopes looked to be all but over.

With surgery the recommended option, Franks was facing a recovery period of up to six months which would have put him in a race against the clock to get fit for selection.

Antiretroviral treatment is unable to cure HIV infection due to viral reservoir, consisting of HIV-infected cells that remain latent and cannot be detected and destroyed by the immune system. Now, researchers from the IrsiCaixa AIDS Research Institute (Barcelona, Spain) and the Gregorio Marañón Hospital (Madrid, Spain), point out certain mechanisms associated with stem cell transplant that might contribute to HIV reservoir eradication, after 5 patients who received a stem cell transplant have undetectable HIV reservoir and HIV antibodies are no longer found in one of them. These findings could serve for the design of less-invasive HIV cure strategies, since stem cell transplant is exclusively recommended in life-threatening haematological conditions. The study, published in the journal Annals of Internal Medicine, has been performed by the IciStem consortium, which was constituted in 2014 with funding from The Foundation for AIDS Research, amfAR.

The study was built upon the case of The Berlin Patient: Timothy Brown, a HIV-positive man who received a stem cell transplant to treat leukaemia. The donor had a mutation called CCR5 Delta 32 that made his blood cells nearly immune to HIV because it averts the virus entry. Brown stopped taking HIV medication and today, 11 years later, the virus is no longer found in his blood. He is thought to be the only individual cured of HIV.

Since then, scientists investigate the mechanisms of HIV eradication associated with stem cell transplant. The IciStem Consortium has built a unique worldwide cohort of HIV infection individuals that underwent through a transplant to cure their haematological disease, with the ultimate goal of designing new cure strategies. “Our hypothesis was that, in addition to the CCR5 Delta 32 mutation, other transplant-associated mechanisms had a strong influence on HIV eradication,” says Maria Salgado, PhD, researcher from IrsiCaixa and co-first author of the article.

The study included 6 participants who had survived for at least 2 years after receiving the transplant. All donors lack the CCR5 Delta 32 mutation on their blood cells. “We selected these cases because we wanted to focus on other potential causes that might contribute to eliminate the virus”, explains Mi Kwon, MD from the Gregorio Marañón Hospital and co-first author of the paper.

After the transplant, all the participants maintained antiretroviral treatment, no longer had immunosuppression and achieved remission of their haematological disease. Five of them had undetectable reservoir in blood and all analysed tissues. This is relevant because these parameters are always detectable in HIV-infected people, despite effective antiretroviral treatments. Moreover, in one of the participants, viral antibodies fully disappeared 7 years post-transplant. According to Salgado, “this could be a prove that HIV is no longer in his blood, but this only can be confirmed if we stop antiretroviral treatment and we don’t see evidence of viral rebound.”

The only participant with a detectable HIV reservoir received a cord blood transplant –the other cases had a bone marrow transplant– and showed delayed achievement of complete replacement of his cells by donor’s cells (18 months). “This process can take from 1-2 months to over a year and we have observed that the shorter, the more effective the reduction of the reservoir is”, explains Kwon.

Another point of interest is graft-versus-host disease, which occurs when cells from the donor attack the recipient’s cells, and that was not developed by the only participant with detectable reservoir. “This suggests that if we manage to control it so that it is not fatal ­–says Jose Luis Diez-Martin, haematologist from the Gregorio Marañón Hospital and co-leader of the study–, not just tumor cells from the recipient are destroyed, but also other cells including those of the viral reservoir.”

These findings could serve for the design of less-complex and invasive HIV cure strategies, since stem cell transplant presents a high mortality risk and is only recommended in life-threatening haematological conditions. “Our goal is to elucidate the factors that help to eradicate the virus after transplant, and then mimic them with safer alternative strategies than this intervention,” concludes Javier Martínez-Picado, ICREA research professor at IrsiCaixa and co-leader of the article. Martínez-Picado is also co-director of the IciStem consortium together with Annemarie Wensing, clinical virologist from the University Medical Center Utrecht (Netherlands).

The next step will be performing a clinical trial that combines new immunotherapies with medically supervised removal of antiretroviral drugs in some of these patients, in order to know if there is viral rebound and confirm whether the virus has been eradicated from their bodies.

In 2019’s current health and beauty focused climate, people are on a quest to fight the signs of aging (or prevent it altogether) and many have begun looking for alternative ways to roll back the clock. With advancements in stem cell and platelet-rich plasma (PRP) therapy, more people are ditching standard procedures like facelifts for newer, regenerative treatments to reverse aging starting at the cellular level. Even athletes are seeing the effects of stem cell therapy to heal injuries and stimulate growth factors. But are these treatments really worth the cost? Are they effective enough to ditch your Botox? Board-certified plastic surgeon Dr. Sean Kelishadi discusses new cell-based treatments, traditional fillers and fat transfers to tell us which might be right for you.

How do stem cells work, what is stem cell therapy and how are people using it in the cosmetics field now?

First, we should distinguish the difference between adult and embryonic stem cells. Embryonic stem cells are derived from an embryo and can become all types of cells within the body. They don’t have a specific function other than to be a manufacturing plant to create other types of cells. As we develop into a child these cells become more specific, called adult stem cells or multipotent stem cells. We have many of these cells as youth, but slowly, over time, lose them as we age. Because of this, we take longer to recover from a sports injury or a wound as quickly. Several years ago, it seemed like there was no way to turn the clock back, until now. Recent research has discovered methods in which we can turn these cells back on or take them from one part of the body and place them in another. We are currently able to take blood and prepare it in a way to concentrate the platelets and white blood cells to turn these cells on for a while to reverse or slow aging or speed up the healing cascade. There are also methods of taking your fat, which was recently discovered as a storehouse for adult stem cells, like bone marrow, where we can transfer prepared fat to other parts of the body, like the face, to slow or reverse the aging of the skin and restore lost volume.

Is it possible to isolate the functionality of what you want those stem cells to do? For example, using them to repair sun damage, is it possible to isolate their functions for a specific purpose in the body?

The scientific evidence being published of late has shown we can take adult stem cells and cause them to form certain types of cells. For instance, adult stem cells from your fat can be grown into bone, cartilage, muscle and skin. This is all groundbreaking for the field of reconstructive surgery. For example, our cancer patients would get mastectomies and have their whole breast tissue removed and have implant reconstruction. They would just have a bag of skin over an implant, which would look unnatural as there’s really no fat and all you could see were the ripples and the deformities from the implant. Some surgeons really thought ahead and decided to take some fat from the patient and put fat where these ripples were to lessen the appearance of the deformity. They also noticed that by doing this, the patients recovered faster from the procedure.

In contrast, there were some doctors and scientists that thought we shouldn’t inject fat in the breasts of breast cancer patients because the stem cells in the fat could potentially enable breast cancer to develop again. It was kind of taboo to talk about this for a while. Fortunately, recent clinical studies have proven otherwise. What they also discovered is that with fat transfer on breast cancer patients with radiation damage, the damaged skin would also become soft and get better largely due to the stem cells found in fat. Just picture people who had radiated skin that looked like leather, and it healed. They realized there was a serious correlation between fat transfers and inadvertent repair and reproduction of healthy cells via innate stem cells in the fat. That’s where a lot of my interest started in this research.

ElNorte   Reporter: Daniela de la Mora  Photography: Velia de la Cruz

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Isabella Lombardo is a 6 year old girl with cerebral palsy who lives in Australia. Until a few months ago, the little girl could not digest, move her arms or legs and it was difficult for her to communicate with her parents.

However, after a treatment with stem cells in Monterrey, his condition and quality of life improved.

Now, seven months later she returned to the city with his father to undergo his second treatment.

“When we learned that she had cerebral palsy, the doctor said she would not walk, that she would be in a wheelchair, and what she did before age 5 that would be his best moment,” says Joseph Lombardo, Isabella’s father.

“We were very worried because she could not use his hands, she could not walk,could not turn around, she could not do anything. We had to find a way to help her “.
His wife and he, he says, spent two years searching the world for a medical option for their daughter.

“We came to Monterrey for the therapy of stem cells they have, which is using my daughter’s own tissue,” he says. “We found out about studies that show that children improve when using stem cells.

“My family and I have always wanted Isabella to be as independent as possible, is everything that the human being wants. Yes, it would be fabulous if she could walk, but right now we are on the way to becoming her independent, that can communicate and move “.

The treatment was carried out by specialists from Bioss Stem Cells, a company specialized in research and development of regenerative medicine with stem cell treatments.

CELULLAR CONCENTRATION

Guillermo Aguirre, head of clinical services of Bioss Stem Cells, explains that the treatment consists of stimulating the bone marrow for three days to obtain a greater quantity of stem cells through a daily injection in the arm.

“We do bone marrow extraction in an operating room the next day, and the patient goes to recovery. Then in the laboratory we separate the sample or the stem cells, and that cell concentrate is applied intrathecally.

“We go directly to the central nervous system and we apply the stem cells and another part intravenously,” he says.

“It’s a treatment that is not done in Australia, and Bioss Stem Cells is one of the pioneers. We serve people with autism, infantile cerebral palsy, who have
suffered a cerebral infarction or a cardiovascular accident “.

Ana Carolina Ramírez Cazares, hematologist of the medical staff of Bioss Stem Cells, says that after the first session, Isabella increased her muscular strength, achieved more extension of the movements in her extremities, already walks a couple of steps and can digest food better.

“Cerebral palsy is a condition where there is an interruption in the neuronal and motor development that conditions certain symptoms, such as the total decrease in movements and decrease in the ability to swallow.

“After a therapy with stem cells does not go back to its previous state, what wins accumulates, is not lost, and in a second therapy we hope there are still improvements,” he says.

Nadal’s team opened up about his use of platelet-rich plasma therapy (PRP) during his knee rehabilitation. The treatment involves taking a small vial of a person’s blood, spinning it in a centrifuge to separate the platelet-rich cells, which carry growth factors that have a regenerative effect, and reinjecting those cells into the site of the injury to speed up recovery.

Bloomberg estimates that thousands of athletes have undergone the procedure, including Tiger Woods, Kobe Bryant and Troy Polamalu.

The PRP may have much wider benefits to performance. Doctors Amy Wasterlain and Jason Dragoo found that Human Growth Hormone ‘increases dramatically within the first 24 hours after PRP infiltration’. They said that their trials had shown its effects can include ‘rocketing both anabolic and catabolic growth factor release’.

“The feeling on the knee is not 100 percent perfect,” he said. “But the feeling on the knee is very good for me because the pain is not limiting my movements. That’s the most important thing. I am playing with no limitations. I am free when I am playing.